Human Genome Research Project --- "Genes, society and the future: volume II" [2007] NZLFRRp 4

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Part One:	Introduction	1
Part Two:	Setting the Scene	11
Part Three:	Benefits and Harms in Genetic Testing of Minors	157
Part Four:	Genetic Testing of Children who Cannot Give Valid Consent	249
Part Five:	Genetic Testing of Competent Minors	287
Part Six:	Disclosure, Confidentiality and Privacy Issues	381
Part Seven:	Conclusions and Recommendations	449

... we can learn from their experiences, but decisions made in other countries will not necessarily suit our needs. New Zealanders need to make their own choices.1

In New Zealand parents have the legal right to seek and make decisions about medical treatment and interventions on behalf of their children. Such is part of the bundle of rights and responsibilities that come with guardianship. Parents exercise authority over a child’s medical treatment until the child is competent enough to make such decisions in or his or her own right.

This report looks at whether genetic testing of children raises new issues that require a different paradigm in terms of medical decision-making for children. Does genetic testing raise new issues or concerns that are not effectively addressed under existing frameworks? Who should decide whether a child undergoes a genetic test: a child; a parent; a health professional; the State? If minors generally do not make medical decisions on their own behalf, at what age are or should they be recognised as competent to do so? At what age should they be recognised as competent to consent to or refuse to consent to a genetic test?

This analysis regarding regulation of genetic testing of minors rests upon the premise that there is a need to respect the autonomy of minors, no matter what their age. This premise results in two different arguments. First, that competent minors should be genetically tested upon their own request or informed consent, in deference to their autonomy. Secondly, that minors too young to make their own decisions should not be genetically tested, in deference to their future autonomy.

The underlying principle of respect for autonomy means that the limited evidence regarding benefits and harms also favours genetic testing of competent minors upon request or their own informed consent; adults may seek and consent to genetic testing, despite the limited evidence about the effects. Notwithstanding, the evidence of benefits and harms of genetic testing of competent minors is equivocal at best, and arguably appears to support the view that more benefits than harms may arise from such testing.

The principle of respect for autonomy requires us to be more cautious in respect of younger children where there is only limited evidence regarding benefits and harms. Where the outcomes of imposed testing are unknown and may include some harm, then there is even greater reason, in terms of their future autonomy, for younger children to make their own decision about testing and for it to be respected. The need to respect their autonomy overrides any parental rights or family concerns which may prompt a request for genetic testing, unless very serious harm will come to the child as a result of not acceding to parental wishes in respect of testing.

Respect for autonomy is the fundamental principle upon which this analysis is based because, regardless of moral or ethical premises, the law protects individual rights to self-determination.

We conclude that predictive or carrier testing of children who cannot give their own informed consent is to be discouraged, primarily because it infringes the child’s autonomy, and also because of the lack of evidence about whether such testing is beneficial or harmful. However, we do not suggest that such testing should be legislated against, as has been done in Norway. There needs to be room for some discretion for those situations in which the child will be better off being tested than not, limited as those circumstances might be. It is not the State’s place to make these decisions instead of parents and health professionals.

We conclude that our existing medico-legal framework allows competent minors to give their own informed consent to genetic testing. However, we suggest that New Zealand-specific professional guidelines on genetic testing of minors, reinforcing the legal capacity of competent minors, would better protect their position, whilst also raising awareness of the ethical, legal and social implications of genetic testing amongst a wider circle of health professionals, rather than just clinical geneticists.

While there are common notions2 of what a ‘child’ is there have been various conceptions regarding to whom the terms ‘minor’ or ‘child’ apply across history, disciplines and jurisdictions. The definition or categorisation often turns upon the purposes for which it is sought.

The most important meanings of the terms ‘child’ and ‘minor’ for the purposes of this part of the report are the legal definitions. There is no single overriding definition of ‘child’ for the purposes of all New Zealand law,3 and children are given various rights, responsibilities and protections at divergent ages.4 It can thus be difficult to categorically state who is legally a ‘child’ in New Zealand. The definition very much depends on the context.5 Such variations can be confusing but also beneficial, by reflecting children’s increasing competency as they develop. Provisions requiring that children be dealt with in accordance with their age and maturity also recognise the fact that individual children mature at different times.

The most relevant definitions of ‘child’ for the purposes of this section of the report are contained within the Care of Children Act (COCA) 2004 and the United Nations Convention on the Rights of the Child (UNCROC).

Note that while both instruments set an arbitrary age limit in terms what age group is covered by the term ‘child’, they both also give significant recognition to the evolving capacities of children, and the need to involve children of all ages (where possible) in decisions affecting them.

The COCA 2004 defines a child as ‘a person under the age of 18 years’. The duties, powers, rights and responsibilities of guardianship terminate when the child turns eighteen; the child marries or enters into a civil union; the child lives with another person as a de facto partner; or it is ordered by the Court (section 28, COCA 2004).

Pursuant to article 1 of UNCROC a child means ‘every human being below the age of eighteen years unless, under the law applicable to the child, majority is attained earlier.’

Thus, for the purposes of this section of the report, the terms ‘child’ and ‘minor’ refer to children under the age of eighteen years. We in no way mean to diminish persons under the age of eighteen by referring to them by the somewhat archaic word ‘minor’

– we merely use the expression as the most appropriate term in the legal context at this time, and to avoid any confusion caused by using the word ‘child’ (which can of course also refer to adult children).

The same genetic tests that can be carried out on adults to identify gene variants or genetic mutations can also be carried out on minors.

Figure 1: Symptomatic testing
symptomatic testing
treatment available
no treatment available

Symptomatic testing is undertaken as part of routine medical care when a minor presents with symptoms of a disorder that may have a genetic basis. For example, testing for fragile X is part of a routine medical work-up for a child with developmental and speech delay.6 For some conditions such as cystic fibrosis there may be interventions available that can alleviate some of the symptoms of the disorder. For others, such as Batten’s disease (a fatal neurodegenerative disorder characterised by mental impairment and progressive loss of sight and motor skills), little can be done to halt the symptoms and progress of the disorder.7

Predictive testing can be presymptomatic i.e. for conditions with 100 per cent penetrance (such as Huntington disease), or probabilistic8 i.e. indicating susceptibility to a condition (e.g. BRCA 1 and BRCA 2 mutations and breast and ovarian cancer). Most predictive tests are for susceptibility.

Both presymptomatic and susceptibility tests can be carried out for early-onset conditions, which usually manifest in childhood or adolescence (e.g. retinoblastoma and Familial Adenomatous Polyposis),9 or late-onset conditions, which manifest later in life (e.g. Huntington disease).10

For some heritable genetic disorders there may be medical interventions available to prevent or delay the onset of the condition or to effectively manage or minimise the symptoms (‘treatment’). For others (e.g. most neurodegenerative disorders) there is often no effective medical prophylaxis or treatment available (‘no treatment’).

When a genetic mutation is not fully penetrant, and thus only indicates varying degrees of susceptibility to a disorder, the risk of developing the associated disorder varies according to a number of factors. These include the particular gene(s) or genetic variation(s) in question; the total genetic environment;11 the individual and the lifestyle involved; and environmental factors. A great deal of uncertainty lingers – further factors that might affect a person’s likelihood of getting a particular disorder remain unknown.

It is important to note that even when a genetic mutation is presymptomatic or fully penetrant, the genetic test results cannot always predict how severe the manifestation (or the expressivity) of the disorder will be in the particular person tested. That is, it currently can be very difficult to tell how mildly or severely the disorder will present in the person tested.

Additionally, there are no guarantees as to the age of onset of any of these types of conditions. There is still a great deal of residual uncertainty regarding the interpretation of presymptomatic genetic test results.

Figure 2: Predictive testing
Predictive testing
Presymptomatic
susceptibility
early onset
late onset
early onset
late onset

Carrier testing is also available to determine whether a minor carries a recessive autosomal or X-linked genetic mutation, or a major chromosomal mutation, for a condition that he or she may pass on to future offspring. Examples include cystic fibrosis, Tay-Sachs, sickle-cell disease and fragile X syndrome.

There is a difference in implication between carrying an autosomal recessive mutation, and carrying an X-linked mutation. A female carrier of an X–linked mutation has a 50 per cent chance of passing the disorder on to her son, and a 50 per cent chance of passing carrier status on to her daughter. Those who carry an autosomal recessive disorder have, at the most, a 50 per cent chance of passing carrier status on to their children, and a 25 per cent chance of bearing an affected child, only if they procreate with another carrier of the disorder. Otherwise, the risks of passing on carrier status, or the disorder, are often much lower. The degree of risk depends on the risk within the population e.g. cystic fibrosis carriers are more common in Northern European populations than in Asian populations.

Carriers are not always unaffected by the disorder for which they carry the mutation. For example, female carriers of X-linked adrenoleukodystrophy (a fatal neurodegenerative disorder characterised by learning disabilities, seizures, gait, co- ordination difficulties and progressive dementia)12 can exhibit symptoms of the disorder.13 Female carriers can also be affected by haemophilia B, Duchenne muscular dystrophy (the most common form of muscular dystrophy in children) and other X- linked disorders.14

in any enactment or instrument to an age expressed in years. In the absence of a definition or of any indication of a contrary intention, the expressions ‘adult’, ‘full age’, ‘infant’, ‘infancy’, ‘minor’, ‘minority’, ‘full capacity’, ‘majority’ and similar expressions in any enactment are to be construed in accordance with twenty being the age of majority. However, as will become apparent in the following discussion, for almost all purposes eighteen years is the true age of majority in New

Zealand. Persons of or over the age of eighteen have all the legal rights and responsibilities of adults, with a very small number of exceptions, among the most notable being that: a person must be twenty years of age to gamble in a casino (s 303, Gambling Act 2003); for persons under the age

of twenty there is a lower breath and blood alcohol limit when driving (s 11, Land Transport Act 1998); and persons under the age of twenty-five years cannot adopt a child, unless the prospective adoptee is a relative, in which case the adopter must be at least twenty years of age (s 4, Adoption Act 1955). There has been recent debate as to whether the Age of Majority Act should be amended to make the age of majority eighteen years instead. Members of the Youth Parliament 2004 spent quite some time discussing a mock amendment to the Act proposing just such a change, and voted by an overwhelming majority (104 ayes, 14 noes, 2 abstentions) to lower the age. See Fourth Youth Parliament, 2004, Parliamentary Debates, Hansard, 16–17 August 2004. Available at: www. clerk.parliament.govt.nz/Content/Hansard/Final/YOUTH_PARLIAMENT_2004.pdf (viewed

26 May 2006). Similarly, the Human Rights Commission’s submission for the Discussion Paper Responsibilities for Children: Especially When Parents Part opined that an age of majority of twenty ‘does not appear to sit comfortably with UNCROC, which defines children as being persons under the age of eighteen. This may result in difficulties in the development of global policies for children.

It is notable that New Zealand has previously been criticised by the Committee on the Rights of the Child for having taken a piecemeal approach to the development of policy relating to children, and that the Government has recently undertaken initiatives in this area. Such initiatives may be

prosecuted in the criminal courts until the age of fourteen years (s 272, Children, Young Persons and

Their Families Act 1989 and ss 20 and 21, Crimes Act 1961). A private member’s Bill – the Young Offenders (Serious Crimes) Bill – is currently before Select Committee. The principle behind the Bill, according to the explanatory note, is ‘adult punishment’ for ‘adult crimes’. If passed, the Bill would reduce the age at which young offenders could be prosecuted from to twelve. Conversely, laws relating to the purchase of tobacco products and alcohol are intended to protect children and young people from the harms those products can bring: persons cannot purchase these products until they reach the age of eighteen.

3.3.1 Autonomy	35
3.3.2 Non-maleficence	35
3.3.3 Beneficence	35
3.3.4 Family discussion	35
3.3.5 Genetic counselling	36
3.3.6 Decision-making	36
3.3.7 Parent-child conflict	36
3.3.8 Discrimination	37	II

Genetic testing of minors does not attract special regulation in New Zealand.1 Indeed, genetic testing services in general attract no special regulation. There appears to be no nationally cohesive strategy in terms of genetics services delivery, despite a number of reports and recommendations from the National Health Committee (NHC) over the last ten to fifteen years calling for a national strategy and greater co- ordination of primary, secondary and tertiary services in the area.2 There is no clear Ministry of Health policy on genetic testing services generally, let alone in respect of carrier testing, predictive testing, susceptibility testing or genetic testing of minors in particular.

In 2003 the NHC released a report, Molecular Genetic Testing in New Zealand, identifying risks for New Zealand associated with the expected increase in demand for genetic testing as genetic knowledge develops.3 The report was critical of the state of genetics services in New Zealand.

The NHC was concerned about the lack of oversight and co-ordination of genetics services delivery. The report made many recommendations relating to the assessment and evaluation of new genetic tests; quality in laboratory and clinical services; and practitioner and consumer issues. The NHC also expressed concern that clinical genetics services in New Zealand were not sufficiently well resourced to meet the expected increase in demand (partly arising from increasing interest in predictive testing). The number of clinical geneticists and genetic counsellors in New Zealand fell well short of international standards, and there were no pathways to increase capacity. ‘Unless there are sufficient trained clinical geneticists and genetic associates, there will continue to be inequitable access to safe genetic testing and this inequity will grow.’4

The report summarised the risks for practitioners and consumers of increased public demand for a range of genetic tests:

The report placed much emphasis on practitioner and consumer safety. It recognised that the increase in demand for genetic testing would mean that more general practitioners (GPs) would be involved in genetic testing. The NHC recommended that GPs, specialists and medical students have increased access to genetic education. It also suggested that more sensitive or controversial genetic testing, such as carrier testing and predictive testing, be co-ordinated through genetics services. Inappropriate ordering of genetic tests was apparently widespread, and there was no scrutiny for inappropriate ordering where test requests did not go through genetics services.6

The report noted that it was difficult to build capacity, and to ensure consistency of service provision, access to services and the dissemination of information to, and education and training of, health professionals involved in genetic testing outside the clinical genetics services, when services were regionally based and co-ordinated.7

Regardless of whether the Ministry of Health implemented a nationally co-ordinated genetics services programme, the NHC noted that protocols were urgently required to assist practitioners to assess when and how different genetic tests should be used. As an example, predictive genetic testing for disorders such as Huntington disease (HD) would be handled through genetics services only. The NHC recommended:

− the appropriateness of the use of each test for children [emphasis added]

Protocol development would address the inappropriate ordering of genetic tests and lack of confidence of primary healthcare practitioners to provide adequate information and to know when to refer. The committee would favour this approach over regulation.9

The NHC also recommended that ‘ways of making information about genetics more accessible to the public be investigated, including information about the limitations of genetic testing’,10 particularly in relation to predictive testing. It was suggested that the public needed access to sources of information other than medical practitioners.

The report discussed genetic testing of minors only briefly, noting that consent issues made genetic testing even more complex. They noted that children and young people should be involved in such decisions, but that their best interests were ‘the bottom line’. The NHC commented that genetic testing of children for untreatable late-onset disorders may not be in their best interests. However, with regard to the tension between children’s rights and the parents’ ‘need’ to know whether their children were likely to become ill, the NHC contended that parents have a legal right to consent to genetic testing on behalf of their children.

It is therefore crucial that the health professional/counsellor is equipped to explore with the parents, the implications of testing the child. However, health professionals may choose not to offer the test or refuse to order it if they believe it to be not in the best interests of the child and may take legal advice on a case- by-case basis.11

The report states that many adults choose not to undergo predictive testing for late-onset conditions, and that testing children ‘eliminates the possibility of future autonomous choice, risking stigma and discrimination’.12 The NHC observed that the American Academy of Pediatrics considered predictive testing of minors for untreatable late-onset disorders to be inappropriate, and concurred with the view that ‘parents must be fully informed of the potential for harm including psychological damage, stigmatisation and discrimination’.13

The NHC generally recommended against genetic testing of minors, except for early onset conditions or those for which beneficial medical interventions are available in childhood. The report does not mention any of the other professional position statements in respect of genetic testing of minors, or how to approach competent minors’ requests for genetic testing.

Specialist clinical genetics services in New Zealand are provided by the Northern Regional Genetics Service and the Central and Southern Regional Genetics Service. The Northern Regional Genetics Service is based in Auckland and administered by the Auckland District Health Board (DHB),14 and provides services to the central and upper North Island. The Central and Southern Regional Genetics Service is based at Wellington Hospital and administered by Capital Coast DHB. It also has an office in Christchurch, and provides services to half of New Zealand’s population: in the geographic region from New Plymouth to Invercargill.15 The Central and Southern Regional Genetics Service co-operates closely with the genetic testing group within the molecular pathology laboratory of Canterbury Health Laboratories ‘to provide a comprehensive clinical and molecular genetics service to patients and clinicians over the South Island and lower North Island’.16 There is also a clinical geneticist based in Dunedin.

Most molecular genetic testing undertaken in New Zealand is for rare heritable monogenic or chromosomal disorders, and carrier testing.17 The clinical genetics services are also used for genetic diagnoses and particularly for harder to source genetic tests. Clinical genetics services sometimes take referrals from other health professionals, and are sometimes contacted directly by families.18

Genetic tests are ordered by clinical geneticists, and also by GPs, paediatricians, physicians, obstetricians and neurologists.19 Currently, predictive and carrier testing are most likely to be undertaken within a clinical genetics service.20

However, any genetic test can be ordered by any medical practitioner, and primary and secondary care practitioners are increasingly being asked for genetic tests by their patients. Some referrals for genetic testing of children (primarily symptomatic) are made by primary and secondary health-care professionals, including GPs and paediatricians.

Informal communication with genetic laboratories showed that the majority of referrals for genetic tests come from general practitioners and that most of these referrals are to confirm diagnoses of conditions such as Factor V Leiden and haemochromatosis.21

DHB laboratories ‘tend to carry out more complex tests including the majority of genetic tests’22 and must be accredited by International Accreditation New Zealand (IANZ).23 Laboratories involved in genetic testing must also comply with the National Pathology Accreditation Advisory Council (NPAAC) guidelines.24 Research

laboratories are not required to be IANZ accredited,25 although they may provide genetic testing on a research basis.

The two main professional organisations involved with quality assurance for genetic tests in New Zealand are the Royal College of Pathologists of Australasia (RCPA) and the Human Genetics Society of Australasia (HGSA).26

District Health Board laboratories have their own protocols regarding certain types of genetic tests, stipulating that specimens for some disorders, such as adrenoleucodystrophy (rare inherited disorder causing a progressive loss of physical and mental skills),27 Huntington disease, familial breast cancer and hereditary non- polyposis colorectal cancer, will not be analysed without evidence that full risk assessment or appropriate genetic counselling has been provided.28 For example:

Women with a strong family history of breast cancer may benefit from assessment of risk. A referral to the Northern Regional Genetic Service will facilitate a risk

assessment and is mandatory before testing can be carried out. ... Genetic testing is accompanied by genetic counselling so that the implications of testing can be discussed and consent given prior to obtaining the blood sample.29

For carrier testing and prenatal diagnosis the patient must have undergone proper counselling through the established national protocol for Huntington Disease Testing. ... Referral reason plus adequate information and family history must be submitted with the specimen. 30

LabPLUS (which includes the Auckland DHB molecular genetics laboratory) also states that ‘Medical genetic consultation is available to complement all requests for DNA analysis and is particularly indicated in complex cases or in situations where the diagnosis is atypical or uncertain.’31

These protocols are in accordance with the HGSA policy, Presymptomaticand Predictive Testing for Genetic Disorders, which recommends that ‘Laboratories that perform predictive tests should develop protocols in consultation with the multi-disciplinary team governing the conditions under which samples are accepted for testing.’32

The World Health Organisation (WHO) has also noted that genetic testing requests in New Zealand ‘are reviewed as they come into the laboratory for appropriateness

Internal policies have been set by the Auckland Diagnostic Genetics Department to process certain requests (mainly those for pre-symptomatic predictive tests) only when they are received from genetic services. It is recommended that some other tests go through genetic services but this is not a strict requirement.34

When a laboratory that performs genetic testing receives a request for a predictive genetic test, which has not been referred through a genetics service, the request would usually be followed up by the pathologist. The pathologist may call the health professional who ordered the test to clarify the situation and the reasons for testing, among other matters.35 Thus inappropriate referrals for genetic testing may be detected at the pathology stage.

Although laboratories may not regard themselves as policy makers or as gate keepers, they are responsible for informing physicians who order tests about the technical appropriateness of a test. They can help to educate physicians

(including the growing number of primary-care physicians who order genetic tests) about the medical appropriateness of the testing of children of various ages.

... Some doctors may turn to laboratories for guidance. In our study, 18 per cent of the laboratories reported that physicians had consulted them about ethical issues involved in the testing of children.36

Evidence of genetic counselling is mandatory before laboratories will perform some predictive and carrier tests (see examples above).

Genetic counselling is a communication process which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family. The process involves an attempt by one or more appropriately trained persons to help the individual or family (1) comprehend the medical facts including the diagnosis, the probable course of the disorder, and the available management; (2) appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives; (3) understand the options for dealing with the risk of recurrence; (4) choose the course of action which seems appropriate to them in view of their risk and their family goals and act in accordance with that decision; and (5) make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.37

Genetic counselling is undertaken ‘by a team of health professionals, which may consist of clinical geneticists, genetic fellows, genetic counsellors, associate genetic counsellors, fetal medicine specialists, oncology specialists and social workers’.38

Genetic counsellors or genetic associates, as they are often called in New Zealand, are attached to the genetics services. They are tertiary trained, with specialist postgraduate

training in genetics and counselling, and are certified by the HGSA to provide genetic counselling in conjunction with a clinical geneticist.39

Individuals undergoing genetic testing within genetic services in New Zealand undergo pre and post genetic counselling by clinical geneticists or genetic counsellors who are accredited to carry out this work by the HGSA. This work is carried out using specified procedures, and written informed consent is obtained on what tests are being carried out, for what conditions, whether the sample will be used for research purposes, and whether (and when) results may be shared within the participant’s family/whanau.40

There is a shortage of both clinical geneticists and genetic counsellors in New Zealand. The minimum requirements would perhaps be met by having eight clinical geneticists and the same number of genetic counsellors for New Zealand’s population of 4.2 million. The reality of current staffing levels falls well short of the recommendations.41

Given that primary and secondary health-care professionals are able and apparently willing to make referrals for genetic tests, and the evidence that many GPs have a lack of knowledge about medical genetics (discussed under the heading ‘Surveys of GPs’ knowledge, attitudes and practice regarding genetic testing’), some individuals may not be receiving appropriate or effective genetic counselling, or any genetic counselling at all, when they are not dealt with through the genetics services. Indeed, as genetic testing becomes increasingly common, particularly in the primary health-care sector, the time and resources available for genetic counselling may correspondingly decrease; for more straightforward testing scenarios genetic counselling may simply involve handing over an information pamphlet.42

It is inappropriate for all health practitioners to be expected to order all genetic tests, given the level of knowledge required for adequate informed consent processes.43

Genetic testing technology has rapidly advanced and become more widely available in New Zealand. However, demand currently exceeds the ability to supply genetic testing services and an expected further increase in demand will put more pressure on a service already under-resourced. It is therefore expected that GPs will have an increasingly important role in meeting future demand in the area of genetic testing in New Zealand.44

A 2002 report for the NHC found that ‘much genetic testing is carried out outside of genetic services by both primary care practitioners and by medical specialists’.45 The

report expressed concern that ‘lack of knowledge on the part of some non-genetic clinicians may impede the quality of services received by individuals outside specialist genetic services’.46

Two empirical studies have been conducted with GPs (and other groups) in New Zealand seeking to establish their attitudes, knowledge and practice regarding genetic testing.47

The NHC commissioned a survey of 600 GPs in 2003 to find out current practice and training needs in respect of heritable genetic disorders. Responses were received from 328 (56 per cent) of the 586 eligible GPs.48 The survey revealed that many GPs had little experience or knowledge of less common genetic conditions and a lack of confidence about when to refer and to whom. Most of the respondents felt that they needed to know more about genetic testing to feel confident to deal with increasing public demand, including knowing when and for what conditions to refer a patient to genetics services, and how to discuss genetic tests and test results with patients.49

The majority of respondents (132 or 70.4 per cent) had ordered one or more genetic tests for haemochromatosis (chronic disorder involving the excessive absorption and inappropriate storage of iron)50 in the past twelve months. However, very few had ever ordered a genetic test for HD (twenty-one, or 5.9 per cent) or for myotonic dystrophy (the most common adult form of muscular dystrophy)51 (eight, or 2.2 per cent).52 Responses indicated that GPs tended to be more likely to refer patients to genetics services than to order genetic tests themselves.

GPs were presented with three clinical vignettes, relating to breast cancer, HD and cystic fibrosis. They were questioned as to risk factors for the three conditions, steps they would take if the patient were significantly at risk, consent requirements, type of genetic testing available, attitude as to benefits of testing, confidence in discussing test results and implications of test results for the patient and his or her family.

The responses to all three scenarios indicated ‘limited knowledge of genetics and the appropriate terminology and procedures’.53 Many GPs felt that they needed further information or advice before they would feel confident discussing genetic test results with their patients, particularly in respect of breast cancer and HD. The authors note that there are currently no guidelines available to assist GPs in New Zealand with decisions around when to refer patients, the conditions they should be referring and how to access tests and explain tests and test results.54

GPs indicated that their rarity made it particularly difficult for them to keep up with developments in knowledge and treatment of some heritable conditions. ‘Even a

yearly information sheet would be advantageous in providing a resource for current practice.’55 Some, particularly rural GPs, also found genetics services difficult to access. A smaller number also indicated that costs and waiting time could be a barrier to access to genetics services.56

‘What is clear though is that a substantial number of New Zealand GPs are not sure how to access genetic advice for their patients and some reported not knowing how to contact Genetics Services in their locality.57

The Report did note that GPs who had referred patients to genetics services were receiving good patient-specific advice from genetics services.

GPs appeared to be generally positive about getting involved in genetic testing as long as they had adequate resources and support.

Thus it is important that any future educational initiatives be informed by previous research, involve the various health professionals that will be delivering the services, and lead to increased access to genetic information. Possible areas of training could include information on calculating risks and communicating genetic information to patients, which this study found to be particularly problematic. However, more work is needed to validate these findings and to further explore genetic educational requirements in a New Zealand context.58

Discussing their own survey of New Zealand GPs, and other groups, Cameron et al. note that:

Although patients attending genetic testing services in New Zealand receive counselling by staff prior to indicating their testing decisions, testing preferences are likely to be well established at the time of the entry into the services. These preferences can bias perception of counselling information in ways that promote decisions to obtain testing.59

Cameron et al. contend that ‘patients place considerable weight on the opinions of their doctors when making decisions about risk assessment procedures’.60

Given that many individuals are referred for genetic testing by their GPs, these practitioners play a pivotal role as de facto gatekeepers in the genetic testing process. ... Their views may determine whether they discuss genetic testing with patients, how they present information about potential consequences and whether they encourage or discourage testing.61

Cameron et al. undertook a survey ‘to assess attitudes about genetic testing for breast cancer susceptibility held by general practitioners (GPs), medical students, and women varying in familial risk’.62 The women’s groups were made up of patients recruited from the waiting rooms of seven clinics, breast cancer survivors and first degree relatives of breast cancer survivors. Over 75 per cent of all groups (GPs, medical students and the women’s groups) endorsed the idea of genetic testing for breast cancer susceptibility.

For every question (relating to attitudes about health benefits, psychological benefits, psychological costs, discrimination, prophylactic mastectomy and prophylactic oopherectomy) the GPs or the medical students held less favourable views about genetic testing than the women’s groups.63 The authors note that this highlights ‘the need for doctors to be aware of potential attitudinal discrepancies with patients’.64

The medical students were more cautious than the GPs about recommending genetic testing, and about expecting positive outcomes. GPs were more likely to emphasise the benefits of testing rather than the psychological costs, in their discussions with patients, whereas medical students gave the two topics more equal treatment.

There was also a positive correlation between more recent medical training and a greater willingness to discuss genetic testing with patients.65 Cameron et al. suggest that genetics education in medical school promotes greater sensitivity to genetic testing issues.66 This suggestion conforms with previous research findings that more recent medical graduates demonstrate greater knowledge of genetic testing issues than older graduates.67

GPs were more likely than medical students to agree that clear guidelines for managing patients with positive genetic test results were lacking. The authors note that ‘there appears to be a need’ for genetics services to provide more information about such guidelines to the GPs in their regions.68

GPs still do not have much contact with genetic testing and there will always be problems training groups of professionals under these circumstances. In the context of the competing demands of a busy general practice workload GPs need to know how to access information about Genetics Services easily when the need arises. GPs who responded to this survey requested access to information and suggested guidelines and continuing medical education sessions as possible avenues for the delivery of information.69

It is not surprising that New Zealand’s primary health-care practitioners (and other non-geneticists) feel ill-prepared to deal with the existing requests and expected increased demand for genetic testing, given the absence of a national policy or strategy for genetics services delivery, or any guidelines for referral for testing or follow-up post-testing. Genetics services in New Zealand appear to suffer from a lack of co- ordination and resourcing. Such disorder cannot facilitate the necessary education and guidance required by GPs, paediatricians and other health professionals.

It is vital that GPs and other health professionals know more about genetic testing and genetics services in New Zealand so that they can better facilitate informed consent; recognise and acknowledge any limitations in their expertise, particularly as they will influence their patients when they discuss testing possibilities;70 know when to refer patients for genetic testing; and can offer some degree of genetic counselling, if required.

Additionally, there is some concern that as genetic testing becomes increasingly ubiquitous in New Zealand, and increasingly dealt with by primary health-care professionals, genetic counselling will be inadequate or non-existent (because of personnel shortages and training, time and resource deficits).

The co-ordinating agency for the District Health Boards (DHBNZ) has reportedly recently set up an expert group ‘to prepare for the improvement to genetic services’,71 apparently based, at least loosely, on the recommendations made in the NHC 2003 Report, Molecular Genetic Testing in New Zealand.

given that genetic testing of minors does not attract special regulation in new Zealand, or even special policy (at this stage), does it raise new issues that need to be considered by regulators?

2 Does genetic testing oF minors raise new issues From those involveD in other meDical Decision-making contexts?

Informed choice for genetic testing is more complex than most other health related information because of the simultaneous presence of a number of factors such as the direct effect on the whole family, the probabilistic nature of particularly susceptibility testing, the uncertainty of outcomes, the lack of therapeutic options and the risk of psychological and social harm.72

‘Today most persons brought into contact with a genetics clinic are children under the age of 14 years.’73 Given that New Zealand has no specific policy or regulation on genetic testing or genetic testing of minors, does this raise new issues?

Genetic testing raises many of the same issues involved in routine medical interventions for minors: clinical judgment; best interests; competence; and informed consent. However, some commentators wish to distinguish genetic information from other kinds of medical information. Some have isolated arguably unique aspects of genetic information for policy analysis,74 although they are not all necessarily relevant to this discussion on genetic testing of minors.

Mason and Laurie isolate the following features as being peculiar to genetic information: it has implications for the blood relatives of the ‘proband’; it has implications for future relatives; it can disclose the likelihood of future ill-health; it is immutable; it has a ‘perceived benefit ... in the guise of predictability’.75

Parents generally have a wide discretion to make medical decisions in respect of their children, and there is evidence that parents (and others) believe that they are also entitled to make genetic testing decisions for their children.76 Minors who are competent (pursuant to legislation or the common law) to make their own medical decisions can presumably also give legally effective consent to genetic testing. However, there is considerable debate about whether certain types of genetic tests should be performed on minors, and about the different circumstances in which such tests may or may not be appropriate. In particular, it is the familial and predictive nature of genetic tests and test results that provide the most fertile fodder for the discourse on genetic testing and minors.

The familial nature of genetic information is relevant to all types of genetic testing, for all people – not just minors. Test results indicating a heritable genetic mutation in one family member invariably reveal information about the genetic risk status of other (and future) family members. For this reason the familial nature of the health information is a new issue raised by genetic testing. The familial element is present in all types of testing for heritable genetic disorders: symptomatic, predictive, susceptibility, and carrier testing.

There are three major issues raised by the familial aspect of genetic testing, specifically in the case of minors:

Disclosure, confidentiality and privacy matters are particularly key issues raised by genetic testing of minors; these will be considered in detail, after the regulatory frameworks for decision-making in this area have been discussed.

Genetic test results for heritable disorders may reveal information about paternity. Parents need to be aware that there is a possibility that non-paternity could be revealed as a consequence of having a child tested for a heritable genetic disorder.

Such a possibility should not be a reason for not having a child tested where the test is clinically indicated as being in the child’s best interests e.g. when a child is symptomatic and there is effective medical management available upon confirmation of diagnosis. Conversely, genetic tests for heritable disorders should not be used primarily as a paternity test (not least because results may not be conclusive).

The possibility of the revelation of non-paternity raises issues around disclosure of results, and questions about in whose interests a child might be tested.

It is possible for parents to have their children tested for genetic disorders in order to learn about the genetic risks in other family members. Indeed, a family history of a specific genetic disorder is one of the primary reasons for seeking genetic testing. The more direct route to discovering another person’s genetic risk status would be to have the individual concerned tested, but there are situations in which this might not be feasible. For example, a wife may wish to discover whether her husband will develop HD, given that he has a family history of the disorder. Her husband may

refuse to have a pre-symptomatic test. The wife might seek pre-symptomatic testing of any child of the relationship in an attempt to find out whether her husband has HD. If the child is mutation-positive for HD, the father will necessarily be mutation- positive also (presuming that the wife has no family history) and will develop HD in the future. (Although if the child tested negative for the HD mutation, the mother would still not know whether her husband had the HD mutation.)77

Family members are not bound by any legally recognisable duties to keep family health information confidential,78 and thus the information from a minor’s genetic tests can be relayed to other interested family members. There is a converse issue also

Perhaps the most common reason for seeking genetic testing of a minor is the desire for certainty. People within families that carry serious heritable genetic disorders are understandably anxious that their offspring may have inherited the disorder. For some people the benefits gained from certainty may be greater than the harms potentially associated with knowing that one will develop a serious disorder in the future.79

Parents may want to know whether their child has or will develop a genetic disorder in the future for a variety of reasons not specifically related to the individual child’s well-being, including their own future reproductive decisions (knowing whether an existing child will develop a genetic disorder may assist parents in family-planning decisions), and facilitating open relationships within the family.80

Parental motives may be questioned in seeking genetic testing for a child, particularly where there may not be any immediately apparent clinical reason to test:

This issue ... calls into question any consent which – in the case of children – will often be given by someone else, usually a parent. In other words ... the rationale for the provision of parental consent may reasonably be thought to be in need of challenge, or at least of close scrutiny, since it may be designed, at least in part, for reasons which go beyond the individual child.81

Similarly, McLean has highlighted that if a competent child gives consent to a genetic test ‘the knowledge that others in the family may be affected places a heavier burden on the child than would knowledge of a non-heritable condition’. She asks, ‘Should the child share the information?’ and other questions along those lines.82 That issue

will not be discussed in any depth in this report because it is seen as part of the much wider question of whether health professionals or family members have moral or legal obligations to share knowledge of familial genetic risks.

The question of whose interests are served by genetic testing relates to one of the other more novel and controversial issues raised by genetic testing: predictive genetic testing of minors.

Carrier testing of minors can also be considered under this heading, because the information gained from a carrier test can contribute to the prediction of possible outcomes of various reproductive choices, and for that reason is sought for the purposes of future reproductive decision-making.

The predictive power of genetic information raises concerns about how genetic information is understood; in whose interests a minor may undergo genetic testing; and the best interests of the child and the child’s autonomy and future autonomy.

Genetics is a highly specialised branch of medical science, not well understood even by health professionals outside of the speciality,84 let alone the general public. Ensuring that minors and families understand not just the clinical but also the ethical and potentially social and legal consequences of having a test for a genetic disorder is of vital importance.

It is far harder to explain severe preventative treatment than to explain treatment intended to alleviate or cure problems which the child is already experiencing.85

The consequences of genetic information may be more complex than other medical information, given its ability to predict the future health of an asymptomatic individual, with varying degrees of certainty. In terms of genetic testing providing some certainty or alleviating anxiety, there is a great deal of residual uncertainty regarding the interpretation of predictive genetic test results. When genetic mutations are not fully penetrant, and only indicate susceptibility to a disorder, the risk of developing the associated disorder may vary according to a number of factors e.g. the particular gene(s) and genetic variation(s) in question; the total genetic environment;86 and environmental factors. Further factors that might affect a person’s likelihood of developing a particular disorder remain unknown.

Given the complexities in communicating genetic risk information, it remains unclear how well individuals understand disease risk ...87

There is evidence that, when a heritable genetic variation that predisposes a person to a disorder is discovered, people do not well understand genetic risk or the probability of developing the disorder.

Studies in the UK and USA have shown that women’s perceptions of the population risk of cancer and their personal vulnerability are at variance with medical perspectives. Before genetic risk counselling, a minority of women have an accurate view of the chances of developing breast cancer, and the majority either over- or underestimate [9,10]. ... Genetic risk counselling has been shown to improve significantly the accuracy of risk perception [10,11,12,14,15,16], but up to 30% of UK women and two-thirds of US women continue to report exaggerated risks of cancer.88

Even if a genetic mutation is predictive or fully penetrant, the genetic test results cannot always, at least at this stage, predict how mild or severe the expression of the disorder will be in the particular person tested. There are also no guarantees as to the age of onset, if at all, of any of these types of conditions.

Additionally, a negative test result for a BRCA 1 mutation (one of the genetic variations associated with hereditary breast cancer), for example, does not mean that the person tested will never develop breast cancer. The person tested may have another hereditary genetic variation predisposing her to breast cancer, or she may develop breast cancer independently of any known hereditary factor.

One concern about carrier testing, in particular, is that it is in a sense potentially more complex to explain. A carrier will not be ill, and generally there will be no consequences of being a carrier until reproductive decisions are to be made. There are exceptions; for example, female carriers of some X-linked disorders, such as fragile X, may be mildly affected by the disorder . However, concern remains that the mere fact of knowing that one is a carrier may confuse the person or result in increased anxiety. In their research into families at risk for Duchenne muscular dystrophy or hemophilia A, interestingly Jarvinen et al. found that:

Carrier testing was in most cases [65 per cent] correctly understood and the matter openly discussed. Our results do not suggest that testing in childhood had caused serious harm to the young individuals tested. On the other hand, we found no obvious benefits from this early testing.89

Parents may wish to harness the predictive power of a genetic test of their child to assist with the following matters, among others:

child is young as opposed to saving for his or her future expenses (such as university or overseas travel).

Much of the debate about whether children should have carrier or predictive genetic tests revolves around whether genetic testing is in a minor’s best interests; different interpretations of ‘best interests’; and questions of ‘future autonomy’ and the ‘right not to know’.

Ryan et al. have suggested that ‘[g]enetic or clinical screening of asymptomatic people is contentious as no intervention has been definitively proved to alter prognosis’.90 All that would be ‘gained’ from such testing, on this argument, might be negative rather than positive. Borry et al. put the argument this way:

This caution originates from the fear that testing in childhood or adolescence could create devastating social, emotional, psychosocial and educational consequences in minors. Some have suggested that genetic testing might harm a child’s self-esteem, create depression or anxiety, distort the family perception of a child or stigmatize a child. Authors have also stressed that testing children can breach the confidentiality and the privacy of genetic information, ignore the specific moral status of the child and downplay respect for the autonomy of the child or adolescent. Testing might also ignore the right of the child not to know and ignore recent pleas to integrate children and adolescents into medical decision making.91

The General Medical Council (GMC) gives pre-symptomatic testing a slightly warmer reception, declaring that it ‘can be an important tool in providing effective care’, but also cautions that ‘the uncertainties involved in screening may be great, for example the risk of false positive or false negative results. Some findings may potentially have serious medical, social or financial consequences not only for the individuals, but for their relatives. In some cases the fact of having been screened may itself have serious implications’.92 Thus, the GMC stresses the importance of ensuring that any purported consent is based on a truly informed decision, and that as far as possible health-care professionals should seek to ensure that the test is not against the interests of the person.

Given that there are generally no clinical indications for testing a child for a late-onset disorder for which there are no available prophylactic measures or beneficial medical interventions, it is widely considered that such testing is against the best interests of the child.93 Not only is there no medical benefit to testing, but also the child may suffer psychological and social harm from being tested for an unpreventable and untreatable disease, such as HD, as a child. Additionally, the child would lose the opportunity to decide whether she wanted to know about a possible increased risk for HD. The ‘right not to know’ that information would be lost.

When the outcome is neither obviously beneficial nor harmful, the question of whether or not the test should be offered or conducted becomes highly problematic; arguably the question again arises regarding for whose benefit the test is being conducted at all. If there is nothing urgent about the test – for example, in the case of carrier testing – it must surely be arguable that there is no self-regarding reason for the child to undertake it. Should the results be of relevance to the child, they could seek a test once they attain competence.

These issues, related to a minor’s best interests and autonomy, are explored in greater detail later in the section ‘Benefits and harms involved in genetic testing of minors’.

The issue of genetic testing of minors is far from uncontroversial. Genetic testing of minors does raise new issues from those involved in other medical decision-making contexts. Most of the concerns relevant to minors in particular are prompted by the familial and predictive aspects of genetic information. Genetic testing may have far greater personal implications for other family members than decisions made in other medical contexts.Additionally genetic information has the power to be more predictive of future health than other medical tests or interventions, which has implications for the minor’s best interests and autonomy. The limited ability of genetic information to predict outcomes is also a source of concern: genetic information can be difficult to understand and its implications easily misunderstood.

We next examine how professional guidelines, attitudes and practice have responded to the issues raised by genetic testing of minors, before looking at whether the differences are legally salient and thus require new legislative or regulatory responses.

3 ProFessional guiDelines anD Position PaPers in resPect oF genetic testing oF minors

What do the various professional guidelines and position statements on genetic testing of minors say about testing of children who cannot give informed consent, and the ability of competent minors to consent to testing? We explore the relevant guidelines on genetic testing of minors to elucidate the professional context in which health professionals are making genetic testing decisions. We discuss the professional guidance most applicable to New Zealand health professionals and also briefly outline and discuss more generally other relevant guidelines and position statements on genetic testing of minors.

There are no New Zealand-specific guidelines or professional position statements on genetic testing and minors. However, the HGSA guidelines apply to New Zealand health professionals involved in genetic testing.

The former New Zealand Independent Biotechnology Advisory Council (IBAC) (2002) document, Genetic Testing, stated that:

Except for the diagnostic confirmation of symptoms, the testing of children is generally not considered appropriate unless the child will directly benefit from the results of the test.94

According to IBAC, direct benefit was the key criterion for testing of minors. Medical benefit in particular was not specified; however, the two scenarios posited for consideration after the quoted statement suggest that the existence of medical benefits was key.

It could be unnecessarily traumatic for children to undergo tests for possible future disorders where neither clinical action nor substantial life style modification would need to occur before adulthood.95

The policy Predictive Testing in Children and Adolescents 2005 is to be read inconjunction with Presymptomatic and Predictive Testing for Genetic Disorders 2005.

Among other goals, the HGSA aims to promote the establishment and maintenance of high ethical standards and high standards of professional practice among persons working in human genetics.96

The HGSA policies deal with predictive testing, and emphasise that the benefit of testing for the child should be the paramount consideration.

The medical implications of the test at the child’s current age, the emotional maturity of the child, and the family setting need to be considered in relation to the adverse medical, psychological and social sequelae that may result both from testing and not testing.97

The policy, Predictive Testing in Children and Adolescents 2005, takes the following recommendations from the policy Presymptomatic and Predictive Testing for Genetic Disorders 2005:

The Presymptomatic and Predictive Testing for Genetic Disorders policy states that the practice guidelines are intended to guide all health professionals who undertake such testing. Professionals are advised to be aware of other sources of information and guidelines, and to note that there may be relevant Commonwealth and State laws that would take priority over the guidelines.99

The HGSA policy indicates that genetic health professionals both within Australia and internationally follow international guidelines that recommend testing of children under the age of eighteen should only be considered when the result is likely to be of direct benefit to the child through medical surveillance, use of prevention strategies or other medical interventions. The policy acknowledges that adherence to such guidelines has been challenged by some parents and writers on the basis that there may be other benefits, which do not come under the general category of medical benefits, for children and their families. Such benefits might include preparing a child for future health issues, empowering parents, avoiding professional paternalism and avoiding uncertainty for parents and children.

Prior to the statutory age at which independent healthcare decisions can be made, a child’s parents have the legal authority to make medical decisions on behalf of their child, with certain limitations specified under state laws.100

The policy categorises the underlying ethical principles regarding predictive testing in children as being autonomy, non-maleficence and beneficence, and notes that the practical application of the principles may vary depending on the nature of the genetic condition under consideration.

The principle of autonomy relates to a person’s ability to make or exercise a self- determining choice. Predictive testing in childhood removes the possibility of the child making an autonomous decision as an adult. It is for this reason that predictive testing programs usually limit testing to individuals over the age of 18 years unless there is a clear and immediate benefit to the child.101

The policy then appears to utilise a consequentialist framework of benefits and harms.

The HGSA policy sets out potential harms that might arise from predictive testing of children:

The policy omits to mention the possible psychological harms, such as sadness, fear, anger, despair or even depression, that might be visited on a child as a result of genetic testing, particularly on a child who tests positive for an untreatable condition. (However, in the section ‘Beneficence’, the policy suggests that benefits and harms can be categorised into medical, psychological and reproductive issues.)

The policy refers to the need to consider the interests of the child, parents and family; benefits and harms should be categorised into medical, psychological and reproductive issues. The policy stipulates that the best interests of the child must prevail and that the health professional must be an advocate for the child during pre- test counselling of the family and the child.

Parents should be encouraged to make their children aware, at an appropriate age, of a genetic condition in the family, and the implications, and to rear the child with this knowledge. Being able to discuss this information with the family over a number of years at different stages of maturity will ultimately enable the child to make a better informed choice about predictive genetic testing as an adult.

As a corollary, genetic counselling is also essential as a prelude to predictive genetic testing. Counselling should be provided in language and terminology that can be readily understood by the child and parents. Parents should be encouraged to view predictive test results in terms of benefits to the individual child, rather than benefits to another person or group. When parents and child conflict, the counsellor should act as an advocate for the child, whilst recognising that the child is part of the family. Counselling needs to focus on the family and child both together and separately. In some cases referral to further counselling from appropriate health professionals will be appropriate.

Predictive genetic testing of children should not be performed without a child’s knowledge and participation in the genetic counselling process. However, in some circumstances, as when predictive testing is medically indicated in young children, parents will need to make decisions alone. The Guidelines give the example of testing babies for a mutation in the RB1 gene. Mutations in the RB1 gene usually result in retinoblastoma – early-onset malignant eye tumour(s), which may lead to blindness or even death among affected children, if untreated.

Parents need to be advised before testing that genetic testing of a child can identify other family members at risk and non-paternity or adoption, and be encouraged to consider the implications and decide how such information would be handled should it arise.

It is interesting to note that where a person is unable to consent to predictive genetic testing because of mental or physical illness or disability, then the more general HGSA policy, Presymptomatic and Predictive Testing for Genetic Disorders, states that a genetic sample should only be taken ‘if it is essential to reach a diagnosis which will be of value to the individual or other family members’102 (emphasis added) and once the person’s legal guardian has given appropriate informed consent.

The rights of the ill or handicapped person should be considered as well as those of other family members.103 (Emphasis added.)

There would thus appear to be a lower threshold for conducting predictive testing on ill or disabled people than for predictive testing of children. The HGSA policy, Predictive Testing in Children and Adolescents, places the child’s interests at the apex of considerations – the benefit for the child of testing should be the paramount consideration. Whereas, from the more generalised policy, it appears that ill or disabled people can be used as a means to an end.

The Genetic Testing of Children, Report of a Working Party of the United Kingdom Clinical Genetics Society (CGS), chaired by Dr Angus Clarke, aimed to:104

The Report briefly outlined the ethical concerns raised by the genetic testing of children. The Working Party observed that an early consensus was reached, by those working in the field of predictive testing for HD, that children should not be tested.107 HD test results could be burdensome, even when they supposedly bore ‘good news’, and a sizeable majority of ‘at risk’ adults (85 to 90 per cent) did not undergo predictive testing for HD.108

The right of the child to decide in adult life whether or not to be tested would be removed if their genetic status was determined at the request of parents or others.109

The Working Party concluded that similar ethical concerns arose in respect of other adult-onset neurodegenerative disorders, e.g. Alzheimer’s disease and prion dementia.110

The Report highlighted documented evidence of discrimination on the basis of genetic status in insurance and employment, raising the concern that predictive genetic testing may have flow-on negative effects for children.111

The Report referred to two potentially problematic ethical areas in relation to genetic testing of children in particular: predictive genetic testing for late-onset (usually of autosomal dominant inheritance) conditions in which clinical manifestation was unlikely until well into adult life (and for which early treatment or surveillance for complications would not help); and testing for carrier status where there were no implications for the child’s own health, but the existence of the condition could affect offspring.112

The future autonomy of children to decide for themselves whether or not to be tested could be undermined in both of these areas. Similarly the confidentiality to which an adult would be entitled would also have been breached when results were disclosed to parents.113

Noting that many did not apply to genetic testing for early-onset conditions or conditions for which there were timely medical interventions, the Working Party listed potential harms of genetic testing of children as including:

Such testing breaches the policy of providing counselling before or in parallel with the testing process, when viewed from the perspective of the child being tested.114

The Working Party observed that there had been significant recent developments in child law. Most notable were the case of Gillick115 and the Children Act 1989, both of which had considerably altered the legal status of children. There was a new prevailing

view that parents had responsibilities for the care of their children rather than rights over them, as such, and that they were expected to exercise their responsibilities in the best interests of their children. Consequently, parental decisions were to be made according to the welfare of the children and not to alleviate parental anxiety. Courts could be called upon to settle any disputes, but occasions in which this would be necessary would be rare.116

The courts have suggested that children should be given the chance to take decisions on medical care for themselves if it is possible to wait until they are able to do so without risking their health.117

The Report contended that the law ensures that decisions about medical testing are made jointly by parents and professionals;118 although parents, in effect, have a veto because testing cannot be carried out without their consent.119

Parental consent must be obtained when children do not have the intellectual capacity to agree to treatment, and such consent may be given until the child reaches eighteen.120 The Report further states that the consent of one person with parental authority may suffice unless there is a Court order dealing specifically with the matter.

The Report charges that, although children cannot be tested without their own or parental consent, health professionals can equally not be compelled to offer care that they consider inappropriate.121 When testing is contrary to a child’s interests, health professionals may justifiably refuse to test, even if a parent requests it.122

Nor are health professionals obliged to disclose information on the genetic status of a child when they believe it would harm the well-being of the child. In principle parents are entitled to see their children’s medical records,123 but health professionals can refuse to reveal information when they believe that to reveal it would cause serious harm to the physical or mental health of the child or others.124

General principles of malpractice law also necessitate that health professionals give serious consideration to the welfare of child patients. The Report declares that professionals are negligent if they fail to practise in a manner accepted by a responsible body of professional opinion in their specialty.125

Given the general consensus that it is unwise to test children for HD, to do so might well be regarded as negligent except in very particular circumstances. In other areas, however, both testing and refusing to test would probably be acceptable providing the child’s position was considered. However, an over rigid policy might be found negligent because it was not addressed to the particular child’s needs and would therefore be unacceptable to professional opinion. Withholding testing could only leave a doctor open to litigation if it appeared to be negligent on the above test.126

The CGS noted that most disputes among family members and/or health professionals could be resolved by sensitive counselling, and recourse to the law was uncommon.127

The Report lamented the lack of evidence upon which to base policies. People’s attitudes (including those on the Working Party) were likely to be influenced by ethics, anecdotes and prejudice.

While there is real concern about the abrogation of a child’s future autonomy as an adult, and about the loss of confidentiality entailed in childhood testing, we do not know whether harm actually results from such testing.128

The concerns were that parental attitudes towards a child might change and that poor expectations about the child’s future mental, physical and emotional development could be self-fulfilling. This could result in a loss of self-esteem for the child. However, there was little evidence that testing would produce such harm. The Working Party speculated that this may have been because testing did not actually cause such damage, or because it had been of such limited scope in the past that the resulting harm had not come to light because evidence of it had not been sought’.129

The Working Party remarked that it had had to arrive at the answers ‘in the absence of adequate empirical data, relying upon our various experiences and upon our concern to maintain the generally accepted principles of medical ethics’.130

The Working Party’s consensus view was that there should be a general presumption against predictive testing, although circumstances might arise where it was appropriate. 131

The Report reasoned that there was a precedent, in terms of HD testing and children, whereby the general prohibition was based upon the likely effects of such testing rather than empirical evidence of harm. Only 10 to 15 per cent of ‘at risk’ adults chose HD testing,132 and those people underwent extensive genetic counselling in which they were required to address the effects the test results were likely to have on their entire lives (e.g. insurance, home ownership, career, marriage, reproduction).

It could be hard for parents to understand the disinclination for testing, felt by many ‘at risk’ adults, which their child too might come to experience. Sensitive genetic counselling exploring the issues would hopefully help parents to appreciate the limitations of their own perspectives and the fact that their feelings might well differ from the child’s views in the future.133

The report reiterated that there was little evidence as to any negative effects from childhood testing for HD or other late-onset disorders.

However, it is clear that predictive testing in childhood for late onset disorders, even in the context of a high risk family situation, can raise as many problems and as much anxiety as is generated by continuing anxiety about the child’s genetic status, and the knowledge that a child will develop such a disorder may, at least in some family contexts, cause worse problems than continued uncertainty. At present, we have no means of identifying those families that would be helped by having uncertainty resolved by genetic tests and distinguishing them from other families in which the results of testing would be harmful. Indeed, there is not even any agreed means of deciding whether or not a family might have been helped or harmed by such an intervention, and what time scale should be considered in coming to a judgment on this.134

The limited empirical evidence and the ethical consequences of childhood testing (loss of adult autonomy and confidentiality and the possibility of causing harm to the developing child) led the Working Party to advocate a cautious policy, tending towards the non-maleficence or ‘first do no harm’ principle.135

The Working Party argued that were also sound legal reasons for health professionals to make decisions about genetic testing based on the long-term best interests of the child. Not doing so could result in action against them for acting, even at the behest of the parents, against the child’s interests.136

However, the Report also duly noted that experience and information would increase in the future and, additionally, the apparent disadvantages of predictive testing for HD might not apply to all disorders or every case of HD.137

The Report charged that testing should clearly be available where there were health benefits to be gained, but that it was generally inappropriate to undertake predictive testing purely to satisfy professional curiosity (except in certain types of research) or to relieve parental anxiety. There may be circumstances in which such testing is justified but ‘the possible emotional harm to the child, the abrogation of their autonomy and the breaching of their confidentiality, will generally outweigh the possible benefits’ that the Working Party could see.138 The Report also noted that similar concerns could arise in terms of susceptibility testing for common multi- factorial disorders. 139

The Working Party maintained that the arguments in relation to carrier testing were less clear and there was no consensus amongst health professionals. The Working Party considered that carrier testing in children should generally be deferred. The arguments for and against could be and often were discussed in genetic counselling. Parents often saw that carrier testing could be delayed without disadvantage, and that the child could eventually participate in the decision as an autonomous person. 140

The Report addressed a number of arguments in favour of carrier testing in children:

The Report opined that this argument was only valid if the only alternative to not testing was complete silence on the issue. The Working Party did not support the idea that a decision not to test entailed not discussing carrier status risks with a child. Indeed, they surmised that discussion of carrier status might be easier without conclusive knowledge. It would not be difficult to explain to a child that the decision regarding testing was for them to decide when they were older. Such granting of control and autonomy could enhance their self-esteem, and allow them to come to terms with the possibility that they may be confirmed as a carrier when older.141

Whilst 50 per cent of children ‘at risk’ for carrier status may have their lives simplified by testing, the possible benefits for those children needed to be weighed against the possible harm to the children identified as carriers. Such knowledge could be particularly harmful in families where some children were confirmed as carriers and others were absolved from risk. (The Working Party observed that being a non- carrier could even be disadvantageous in some families.)142

The Report commented that anxiety could increase if a child tested positive as a carrier, and that testing might need to be repeated in the future as techniques improved.143

The Working Party responded that there was also no good evidence of any benefits. Some evidence indicated that carrier status knowledge could have adverse effects that may be magnified if identified involuntarily when young and if the child were labelled a carrier by the whole family.144 The Working Party claimed that it arrived at its conclusion based on the evidence currently available and the recognition that further research was needed.145

The Report also referred to problems relating to stigmatisation; fear of stigmatisation; and increased health concerns and distress amongst carriers.146

The Working Party contested that this argument relied upon presuppositions: that teenagers would want carrier testing, and that they would want prenatal testing. The report outlined practical alternatives to urgent carrier testing: the doctor could inform the teenager about the risks and refer her for genetic counselling (and possible testing) if desired; and adolescents should be given proper information about reproduction and contraception.147

The Working Party commented that giving information to the family about carrier status did not guarantee that the child would receive appropriate information at an appropriate age. (Indeed, anecdotal evidence suggested that parents found it no easier to give children information about genetic disease than to give them information about sex and reproduction.) Even when a child was tested, the CGS believed that health professionals retained a responsibility to ensure that the future adult was offered genetic counselling at an appropriate age. This would ensure that the adult had the opportunity to discuss relevant issues, and that any advances in medical knowledge, not known at the time the parents were informed, could be conveyed.148

In a social context with parental fluidity and serial step-parenting, and because of the emotional responses of guilt, blame, responsibility, and denial in relation to their genetic disease in many families, it is not possible to rely upon the effectiveness and sensitivity of intergenerational communication. In addition, to set up testing of children in this way runs counter to a core principle of clinical genetic practice, by separating the testing from the counselling by a gap of years.149

The Working Party suggested several possible ways of ensuring that a child was offered carrier testing at an appropriate age:

The Working Party was most in favour of the third option, despite the expense.150

The Report summarised the discussion as tending towards the view that carrier testing in childhood might not be appropriate, particularly where there were practical alternatives. Unintentional carrier testing should be avoided where possible,

and further research was needed to establish the psychosocial consequences, adverse effects and benefits of carrier testing in children.151

There was no clear consensus as to this issue amongst British health professionals. Decisions were to be made according to the best interests of the child; however, no blanket policy would be defensible.152

Given that the genetic test results will have no medical management implications for the child, and that the uptake of carrier and late onset predictive tests by adults in Britain is low, the arguments in favour of parental rights to demand this information are weak, although the parents may have the right to demand alternative means of ensuring that testing and counselling are offered when the child is older.153

The Working Party declared that where testing was possibly medically advantageous to a child, then medical practitioners clearly had an obligation to ensure that it was carried out. Where testing might be of interest to the future adult for health reasons or to enable informed reproductive decisions, the offer of genetic counselling and possibly genetic testing should be made when the person was mature or in early adult life (which might require establishment of an active genetic register).154

Medical practitioners need not assume a duty to instigate carrier or predictive testing and, when such testing was requested by others, they had a right to refuse if they considered it likely to harm the child or the child’s best interests.155

In circumstances when this type of testing is being contemplated, there should be full discussions both within the family and between parents and genetic health

professionals (clinical geneticists or non-medical genetic counsellors); the more serious the disorder, the stronger the arguments in favour of testing would need to be. ...

until the child is able to understand the issues and requests testing in person.

6. Because some of these recommendations (1–5) are likely to diverge from the practice and beliefs of many within the medical profession, and even within clinical genetics, it is important that further discussion and debate take place. We believe that the medical profession shouldwork towards a consensus on these issues before such tests become more widely available through commercial laboratories which may pay little respect to the goal of coupling laboratory testing with the provision of counselling and support as a package of genetic services It will also be important

to extend this work to achieve a broader consensus across the professions of nursing, social work and the law as well as medicine.”157

The Genetic Interest Group (GIG), a national umbrella organisation of more than one hundred charities, voluntary organisations and support groups, responded to the 1995 CGS report The Genetic Testing of Children. It opined that the age at which a young person became sexually active might be a better indicator of when to consider genetic testing than any fixed age, given that it was ‘the age at which genetic information becomes important in many circumstances’:

An issue that needs further consideration in this context is how to draw a dividing line between childhood and adulthood, and the consequences this might have for issues related to the genetic testing of children.159

GIG considered the United Kingdom CGS report to be ‘deficient and flawed’ in many areas, and stated that it had a different perspective, informed by the experiences of families directly affected by genetic disorders.160

GIG contended that the CGS report was overly concerned with the potential psychological harms caused by genetic testing: ‘With little evidence, this seems to reflect more the fears of doctors that they will be held responsible for negative reactions, rather than the needs of families’.161

In their experience children could cope with information about themselves from an early age and it was more frequently adults who had problems in giving information. Their main focus was to argue for the right of parents to have their children undergo genetic testing, except for late-onset conditions.162

GIG argued that there were many reasons to allow this type of testing, despite a lack of pre-symptomatic medical interventions, including ‘possible freedom from anxiety; facilitating open relationships; and the parents’ need to secure the best environment they can for themselves, the child who will develop the disorder, and other children in the family. “Best environment” might mean a house with suitable access, located near a school and hospital. It might also mean securing particular kinds of work. It is a major defect of the report that it makes little mention of the non-medical reasons for testing’.163

GIG accused the CGS report of being vague as to whether pre-symptomatic diagnosis of childhood onset conditions should be performed,164 and recommended that ‘Subject to the limitations of existing law, parents have the right to make an informed choice on whether or not to have their child tested for childhood-onset conditions’.165

... parents are responsible for the welfare of their children, and at the end of the day most of them are better equipped to decide what is in the best interest of a particular child, and the family as a whole, than are outsiders.166

GIG argued that the same arguments in favour of allowing parents to consent to pre- symptomatic testing of their child for childhood-onset conditions also ‘hold good’ in respect of carrier testing. GIG considered that in many or even most cases the issue of carrier status would be best dealt with at puberty or when the child became sexually active. However, earlier knowledge of carrier status might help a child to adjust better to the information, rather than being confronted with the information at puberty when already going through a process of adjustment. Additionally, younger children might well already be wondering whether they would be affected in some way by a heritable mutation seen in their family.167

GIG argued that the seriousness of carrier information had been exaggerated because it was new, and that suggestions that children might be treated differently if known to be carriers, or that they might be given erroneous information, were unsubstantiated: ‘the vast majority of people are better able to understand the implications than they are often given credit for’.168

While the response recommended that children should only be tested when they were of an age to be involved in the decision, the emphasis appears to remain on parents giving informed consent to testing of their child, rather than the minor giving informed consent:

After suitable counselling, parents have the right to make an informed choice about whether or not to have their children tested for carrier status. Ideally, children should only be tested when of an age to be involved in the decision.169

GIG argued that the child could still choose whether or not to use the information when making reproductive decisions as an adult.170

GIG agreed with the United Kingdom CGS that ‘Children should not be tested for adult-onset conditions for which there are no pre-symptomatic medical treatments’.171

The argument that testing of the child takes away their right to make an informed decision as an adult overrides all other considerations.172

The Canadian Paediatric Society (CPS) Guidelines for Genetic Testing of Healthy Children (Position Statement (B2003–01))173 deals with the testing of healthy children, in particular when there is no foreseeable timely medical benefit.174 The guidelines do not go into issues relating to diagnosis of symptomatic children; genetic testing for the purpose of enhancing monitoring, prophylaxis or treatment in a healthy child at risk for a genetic condition; or newborn screening.175

The position statement surmised that it was difficult to predict whether childhood testing would be beneficial to that individual in adulthood. Surveys revealed that genetic testing of minors for late-onset disorders occurred with relative frequency,176 despite research indicating that the willingness of asymptomatic adults to have genetic testing for late-onset conditions or carrier status was highly variable across individuals (although there was higher preference to be tested where prophylactic measures might be taken in relation to a disorder tested for).177

The statement contends that there is significant societal concern that stigmatisation followed by discrimination can occur against individuals and groups on the basis of genetic status.178

Although the concept of an individual right to decide about testing and control of information may be challenged when considering the duties and responsibilities one mayhavetofamilymembers, tohavetestingimposed on an individualwithout consent would be unacceptable, even in the context of a family situation.179

Studies of people at risk for HD demonstrated that a positive result in a well-prepared person might not be as devastating as might be expected. However, knowledge that one is not at risk had been shown to increase psychological stress in some cases.

The statement also referred to advantages in not knowing one’s carrier status: relational bonds could be shattered when true ‘at-risk’ status is shown. More generally, family dynamics could be affected by testing. Testing might confer a psychological impact on not only the child being tested but also the parents, who might feel responsible for a positive test result.180

Testing for carrier status was often perceived as less psychologically risky than testing for late-onset disorders, because generally carriers were and would remain unaffected. However, that was not to say that carrier testing was entirely without impact, surveys demonstrating that the impacts can variously include negative effects,181 positive attitudes182 and misunderstandings.183

The position statement contended that whilst ‘the highly sensitive nature of genetic testing and historical concerns of societal oppression’184 had meant that rights to autonomy and self-determination had underlined an emphasis on informed consent, autonomy was not an independent concept but was relationally based.

Individuals made heath-care decisions based on responsibilities to others,185 and generally ‘the interests of the family and the child are intricately related and difficult to separate’.186

The statement emphasised the paramountcy of the best interests of the child and the need to weigh the benefits and risks of genetic testing very carefully.

The practitioner needs to distinguish the need for a parent to know whether his or her child has inherited the disease-causing gene from the need for the child to know. Ideally, the decision to test should be made with the child, when the child is competent to make the decision.187

The statement stipulated that consent must be informed, voluntary and given by a competent individual.188

Whilst carrier testing may be considered less psychologically risky because the carrier will generally not be affected by the condition, it can impact a child’s right to future reproductive autonomy.

Children will grow up to be adults. Respecting them as potential adults means respecting their right and ability when they reach that state, to have autonomy over information personal to them.189

If an infant or child is tested for carrier status then the parents and anyone else they divulge the information to will know of their status, infringing their right to autonomy in the information. And, as with testing for late-onset conditions, the variability in adult uptake of carrier testing made it difficult to predict whether carrier testing for a child would be in his or her best interests.190

Parents and health-care providers who request genetic testing must have a good understanding of the ethical and social implications.

In the rare circumstance that genetic testing of a healthy child is insisted upon after the parents are fully informed of the ethical and social concerns, the best interests of the child within the family context should be considered.191

Having weighed up the benefits versus the potential harms, a health-care provider should not feel obligated to take part in the testing, where she or he sees scope for undue harm.

Although parents are the decision makers for their children’s therapeutic treatment, they do not have authority over non-therapeutic interventions, including genetic testing.192

On those exceptional occasions where it appears that not testing would be of greater harm than testing, such cases should be decided with the succor of ethics and legal expertise.193

child, the physician is not obligated to carry out testing that is not in the best interests of the child. In exceptional circumstances, not testing may create more harm than testing. In these cases, a referral for ethics or legal opinion may be appropriate. 194

In its report of 30 November 2001, Genetic Services in Ontario – Mapping the Future,195 the Provincial Advisory Committee on New Predictive Genetic Technologies196 stated that genetic testing of children in the absence of timely medical or psychosocial benefits, or when the benefits would not accrue until adulthood, could cause serious psychological harm, expose children to stigmatisation and discrimination and deny their future autonomy.197 The Committee therefore made the following recommendation:

Newborns and children should not be tested for genetic conditions where there are no timely medical or psychosocial benefits, or where those benefits will not accrue until adulthood (as in the case of carrier status or adult-onset disease).198

The Canadian College of Medical Geneticists (CCMG) position statement, Genetic Testing of Children, supports the principles outlined in the American Society of Human Genetics/American College of Medical Genetics Report. In particular:

The main justifications for genetic testing in children and adolescents should be timelymedicalbenefitto the children oradolescent, and/or substantialpsychosocial benefits to the competent adolescent, that will accrue before adulthood.

In cases where the genetic testing of children involves detecting possible risks to their offspring, rather than risks to themselves, a decision as to whether the potential harm of such testing outweighs the benefit is often complex, and the answer may not be clear. ... The age at which a child may be offered the test can be the age of responsible understanding, rather than the age of majority.199

The American Society of Human Genetics/American College of Medical Genetics (ASHG/ACMG) Report (1995), Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents,200 states that:

Although parents are presumed to promote the well-being of their children, a request for a genetic test may have negative implications for children, and the health-care provider must be prepared to acknowledge and discuss such issues with families.201

The Report focuses on genetic testing in response to a family history of disease, or parental requests, and not genetic screening (population based, e.g. newborn or school screening programmes).

The report recommends that counselling and communication with the child and family include an assessment of the potential harms and benefits of testing; determination of the child’s decision-making capacity; and advocacy on behalf of the interests of the child.203

The Report states that parental requests for genetic testing on non-medical grounds (e.g. for psychosocial reasons) are the most controversial aspect of the discourse on genetic testing of children. Some geneticists approved of such testing, whilst others did not approve where there was no immediate medical benefit to the child. There were already some protocols in place regarding the testing of children under eighteen for HD and BRCA mutations.204

As with other medical treatment, the welfare of the child is the guide to action or inaction in terms of genetic tests when the child does not have the capacity to give voluntary informed consent. Thus, decisions should be based on assessment of the possible benefits and harms, which may emerge from medical, psychosocial and reproductive issues, and may also have implications for the child, his or her immediate family, and more distant relatives.205

Treatment and prevention – Genetic tests with the potential for therapeutic benefits for children are those most likely to be supported by the public and health professionals, and of course the children themselves and their families.206

While medical benefits can sometimes be gained from childhood diagnosis, other outcomes are more contestable, and some even harmful. For example, a childhood diagnosis can result in increased tests, monitoring and treatment regimens (at a

cost) with no proven benefits (as the Report contended could be the case with pre- symptomatic diagnosis of cystic fibrosis).207

Thus, the potential for benefit of unestablished treatment and/or prevention regimes is a questionable justification for testing. Empirical verification of the benefits and harms of prevention and treatment should precede recommendations for routine testing (Wilfond and Nolan 1993; Marteau 1994).208

Surveillance – For susceptibility mutations, monitoring is sometimes associated with effective treatment (as in the case of retinoblastoma).209 However, medical benefits accruing from surveillance are less certain in other cases. The benefits of genetic tests diminish when early detection has no effect on prognosis.210

Reduction of surveillance – If a child is excluded from risk by genetic test results then he or she could benefit from a reduction or cessation of surveillance.211

Refinement of prognosis – Genetic testing can help refine prognosis when it leads to a precise diagnosis or when a genotype is well correlated with a phenotype. 212

Clarification of diagnosis – Genetic testing can help clarify an uncertain diagnosis if information from other sources is inconclusive. Testing children can also benefit other family members, when it is necessary to improve the reliability of linkage and mutation analyses.213

The report asserts that psychosocial issues could be exacerbated or alleviated by genetic test results, and that:

The presence of severe anxiety of other psychopathology should be an indication for further psychological intervention – and not necessarily an indication for genetic testing.214

Reduction of uncertainty – The Report highlights research on HD demonstrating a reduction in anxiety both in persons determined not to be at risk, and in those found to be at increased risk. The least reduction in uncertainty was amongst those who had indeterminate test results.215 Even where the reduction in uncertainty leads to knowledge that one has a life-shortening disorder, testing can lead to appropriate adjustment and preparation.216

Both parents and children can benefit from the reduction in uncertainty that testing brings: a mutation-positive result allows a family to confront the condition and issues head-on, whilst a mutation-negative result can lead to significant psychological benefits for both child and family.217

Alteration of self-image – The Report lists a number of potentially negative effects genetic testing may have on a child’s self-image: children who test positive for a disorder may lose self-esteem at a point in their lives critical to self-identity development;218 children’s understanding of disease and illness is often limited, and may result in self-blame if affected;219 potential loss of privacy in the information could exacerbate self-esteem problems; unaffected children may carry ‘survivor- guilt’, in the knowledge that one or more siblings may develop and possibly die from a serious genetic disorder.220

On the flipside, some affected children may come to ‘own’ their condition, and view it as normal, and develop positive attitudes of identification with similarly affected family members.221

For children at risk of being carriers, not testing could have unexpected benefits: not knowing the status could allow a child to assume carrier status and thus share any familial burden of the illness;222 the assumption of carrier status can provide an important source of self-identity (which could be altered if the child is found not to be a carrier).

Impact on family relationships – The Report suggests that affected children may be overindulged, rejected or treated as a scapegoat,223 or be victims of the ‘vulnerable child syndrome’ and overprotected and restricted from normal childhood activities.224 Meanwhile, unaffected siblings may feel disenfranchised by the attention and concern shown to an affected sibling.225

Genetic testing of children can also unintentionally provide predictive genetic information about other family members. This may be perceived as a benefit or harm.

Impact on life planning – The Report asserts that the possibility of serious disease or early death can affect educational goals; occupational choices; specific career plans; home ownership;226 retirement planning; obtaining life, disability or health insurance;227 possible adoption (for parents and child);228 and choice of domicile – families may wish to live closer to family, other support systems or adequate medical facilities.229

Genetic status can also lead to stigmatisation and inappropriate discrimination in a variety of areas,230 such as education, relationships, employment and insurance.231 Affected people may not be encouraged to reach their full potential and may have difficulty accessing education or employment if premature death or frailty is foreseen.232

The Report deems any reproductive benefits gained from genetic testing, such as knowledge of carrier status, to be of little value to children. The imparting of carrier-status results may be done in such a way and at such a time or age as to be incomprehensible and essentially useless for children.

However, from a parental perspective, knowledge of a pre-symptomatic condition in a child could affect their reproductive choices, in terms of utilising prenatal testing, or timing or spacing of children.

Parents generally have the authority to make medical decisions for their children. This authority may be limited if a decision is likely to cause a child serious harm without the prospect of compensating benefit. What further complicates these issues in genetic testing is the uncertainty about the putative benefits and harms.233

The Report notes that as children grow and mature, their ability to participate in decisions increases, and there may be occasions where their choices clash with the wishes of their parents. These issues highlight the need for the provider to explore both the interests of the children and the interests of their parents.234

The Report declares the presumption of parental authority a fundamental principle for families and professionals in discussions and decisions regarding the genetic testing of children.235

Limits of parental authority – However, the Report asserts various limits to parental authority. Where there are objective reasons to believe that a decision or action has significant potential for an adverse impact on the health or well-being of a child, parental authority is limited, as in child abuse situations.236 Additionally, parents are required to provide certain medical benefits for children in some cases, even when contrary to their own beliefs – e.g. newborn screening for PKU, some immunisation programmes and life-saving blood transfusions. Conversely, parents may also be restricted in choosing certain medical interventions for their children, including involuntary sterilisation, or participation in harmful research trials.237

In the clinical setting providers can refuse to participate in diagnostic or therapeutic interventions that have no or few benefits and more than minimal risks or cost (patients are not free to assert entitlements to services from third parties).238 Where this is the case the Report recommends providers issue an explanation for their refusal and offer a referral.

Children’s cognitive skills and moral reasoning abilities mature over time and at varying rates.239 As they develop they become capable of greater participation in decision-making; and, indeed, participation in important decisions can further enhance development of such skills.

The Report states that children can begin to participate in decisions by the age of seven because they have sufficient cognitive and language skills to understand some information. Therefore, in the United States seven-year-olds are entitled to give ‘assent’ to participation in research.240 The ability to ‘consent’ relies upon the competence to make an independent choice whereas the ability to ‘assent’ merely requires a rudimentary understanding of risks and benefits and a decision to participate or not.241

The Report charges that by the age of twelve or fourteen some children will have sufficient decision-making capacity to evaluate specific risks and benefits of tests and treatments.242

The supposition of the role of fiduciary requires that providers be conscientious about considering requests for testing, as well as requests for non-disclosure.

Assessing requests for testing – Whilst providers are generally meant to give non- directive advice, they may discourage actions potentially adverse to the well-being of any child concerned. Providers must ultimately balance the responsibility to the health and well-being of the child with the responsibility to adhere to the parents’ wishes. This should be evaluated by assessing the relative benefits and harms of each course of action; an assessment is rendered more difficult in situations where the factors are largely psychosocial rather than medical.243

The Report urges that, until more evidence is available about the harms and benefits of genetic testing, providers must adhere to the principle ‘first do no harm’. Where there is uncertainty it may be more prudent to avoid the possibility of harm rather than provide unclear benefits. There could be a rebuttable presumption: defer testing until the risk–benefit ratio is favourable.244

Parents may overestimate the powers or benefits of genetic testing or be unaware of risks. Sometimes the provider may need to weigh the benefits to the family versus the benefits to the child, as when parents request predictive testing for family planning or socioeconomic reasons (e.g. how much to save for college).245

The Report propounds the utility of consulting with other providers (including ethics committees) in order to evaluate harms and benefits, decision-making capacity and

voluntariness. If consensus is unattainable then a provider may refuse to participate and may refer a family to providers who might be more willing.246

Assessing requests for non-disclosure – The Report highlights the potential conflict between the parents’ interests in making decisions for the well-being of their child and the child’s interests in self-determination. Justifying requests for non-disclosure becomes increasingly difficult as a child matures, even in situations where disclosure would not promote his or her own well-being.247 Factors to be considered include age, the need for medical interventions and the need for the child’s participation in therapeutic interventions. The Report recommended that people should be informed, upon reaching adulthood, of the existence of such tests, and be given the option of knowing the results.248

The Report lists ‘Points to Consider’ when genetic testing of children or adolescents is proposed.

‘As genetic testing for children and adolescents becomes increasingly feasible, research should focus on the effectiveness of proposed preventive and therapeutic interventions and on the psychosocial impact of tests. Such data are necessary to define the empirical benefits and harms of testing before judgments about the advisability of testing are formulated.’249

The Report of the American Academy of Pediatrics (AAP), Ethical Issues with GeneticTesting in Pediatrics,250 recommends that genetic testing for adult-onset conditions, when the genetic information has not been shown to reduce morbidity and mortality through interventions initiated in childhood, should be deferred ‘until adulthood or until an adolescent interested in testing has developed mature decision- making capacities’.

Recommendation 15 of the European Society of Human Genetics (ESHG) Report, Provision of Genetic Services in Europe,251 would allow genetic testing of a minor if ‘necessary for differential diagnosis of manifest symptoms or for establishing the cause of a disease’. Predictive genetic testing for childhood-onset conditions for which there are beneficial medical interventions is also indicated. However, ‘[o]ther predictive tests and tests for carrier status should be delayed until the person is old enough to make an informed decision’.

The Act relating to the application of biotechnology in human medicine, etc. (5 December 2003, No. 5), sections 5–7, ‘Genetic testing of children’,252 states that pre- symptomatic, predictive and carrier testing shall not be carried out on children under the age of sixteen unless the test can detect a condition for which treatment may prevent or reduce damage to a child’s health. The Ministry may in special cases grant exemptions from the prohibition. The grounds upon which an exemption might be granted are not clear from the Act.

On the basis of the principles of autonomy, beneficence and non-maleficence, the World Health Organisation (WHO) issued its Proposed International Guidelines on Ethical Issues in Medical Genetics and the Provision of Genetic Services, which state that ‘Testing of children or adolescents should be carried out only if there are potential medical benefits to the child or the adolescent’.253

The World Health Organisation (WHO) Human Genetics Programme (HGP) Review of Ethical Issues in Medical Genetics comprises guidelines for testing children and adolescents. The guidelines primarily relate to children who cannot give informed consent, and recommend that:

for the test, including the name and description of the disorder (but not the name of the person on whose behalf the minor is to be tested, except with that person’s permission) should be explained insofar as possible. The minor should have the opportunity to decide, upon reaching adulthood, whether to know or not know the results’.256

The recommendations in the WHO documents are ‘intended as points of departure for genetics professionals and public health officials to develop policies and practices in their own nations’.257

A number of recurring themes emerge from the professional position statements and guidelines in respect of genetic testing of minors who cannot give their own informed consent.

All of the statements caution against genetic testing of children for late-onset disorders for which no pre-symptomatic medical interventions exist. A similarly cautionary stance is generally also taken in respect of carrier testing of children who cannot give their own informed consent.

The guidance emphasises the paramountcy of the best interests of the child. However, timely medical benefit is seen as key. Whilst there is some acknowledgement of the psychosocial benefits that may arise from genetic testing of minors (more usually in the context of testing on a competent minor’s request), and an oft-expressed desire not to have a blanket policy (to allow for an individualised assessment of the benefits and harms potentially applicable in each case), the major focus is on clinical benefits or lack thereof. This is perhaps unsurprising given that most of the guidelines and position statements detailed were formulated by and for groups of health professionals.

The principles of autonomy, non-maleficence and beneficence arise frequently in the position statements as being those most relevant to decision-making in respect of genetic testing of minors.

Most of the statements take it for granted that predictive testing in childhood for a late-onset disorder, or carrier testing, infringes the minor’s autonomy. Robertson and Savulescu have argued that predictive testing of minors is not necessarily a violation of a child’s future autonomy, and may in fact facilitate the development of autonomy in a maturing child.258 This idea and their arguments are discussed in greater detail in the ‘Benefits and harms’ section of this report.

Many of the more in-depth statements or guidelines list purported benefits and harms of genetic testing of minors, focusing on psycho-social consequences of

testing (as the focus of these statements is frequently on genetic testing for non- medical reasons). Similar benefits and harms are catalogued by the various groups. The ASHG/ACMG ‘Points to Consider’ section also offers some comments on the likely medical benefits and harms of genetic testing of minors, including prevention or treatment, and increased or reduced surveillance.

Concerns about the minor’s right to confidentiality and possible discrimination are recurring motifs related to both autonomy and the wider benefits and harms of testing.

Many statements lament the lack of evidence of the effects of genetic testing of minors. Some call for more empirical research to assess the benefits and harms consequent upon predictive testing, e.g. medical interventions, psycho-social benefits and harms and the effectiveness of non-medical interventions (such as training a child or adolescent for adult-onset blindness).259 When referring to purported harms of testing, some of the statements mention the body of evidence relating to predictive testing in adults for the HD mutation in particular, because of the lack of child- specific evidence on the effects of genetic testing.

Most sets of guidelines discuss the child’s interests within the milieu of the family. Recognition of the inseparability of the child from the family leads most of the professional bodies to recommend a non-adversarial, open, communicative and supportive approach to handling parental requests for genetic testing of minors. Particular emphasis is placed on genetic counselling of the parents and the child, in order to examine the consequences of testing for the particular child within the family context. Both the HGSA and the ASHG/ACMG guidance note that the role of the genetic counsellor is that of advocate for the child.

Ideas about parental rights and responsibilities, and the evolution of the law in this respect (from parental rights to make all decisions for their children, to their responsibility to make decisions in their best interests), are prominent, particularly in the United Kingdom CGS report and the ASHG/ACMG ‘Points to Consider’. Most guidance, particularly that from GIG, recognises that parents generally do know and act in accordance with their children’s best interests.

The position statements refer varyingly to parental rights to make their children’s medical decisions, from mentioning non-specific legal limits on their rights (HGSA, CGS), to specific limits (ASHG/ACMG), to outright denial of their rights to make non-therapeutic medical decisions for children (CPS).

Although parents are the decision makers for their children’s therapeutic treatment, they do not have authority over non-therapeutic interventions, including genetic testing.260

The nature or specifics of the genetic condition for which testing is sought does not always seem to be important, except to the extent that it is treatable or non-treatable. The focus in most statements is on testing for late-onset disorders, rather than those with childhood onset, even when the latter cannot be prevented or treated. Huntington disease is frequently used as the exemplar of an untreatable late-onset disorder for which children should not be tested. Thus it is frequently not clear to what extent any recommendations apply to genetic testing for untreatable childhood- onset conditions.

In terms of guidance on predictive testing compared to carrier testing, the HGSA has not promulgated guidelines on carrier testing and the ASHG/ACMG guidelines focus predominantly on predictive testing. The United Kingdom CGS report goes into both predictive and carrier testing in some depth, and seemingly treats carrier testing of minors with a little more leniency.

... guidelines should always be assessed in the particular local legal context and cannot always be translated to another cultural setting.261

Having conducted a systematic review of twenty-seven sets of professional guidelines or position statements on genetic testing of minors, from thirty-one different organisations (issued between 1991–2005), Borry et al. conclude that there is a remarkable degree of unanimity:262

The main justification for presymptomatic and predictive genetic testing was the direct benefit to the minor through either medical intervention or preventive measures. If there were no urgent medical reasons, all guidelines recommend postponing testing until the child could consent to testing as a competent adolescent or as an adult. Ambiguity existed for childhood-onset disorders for which preventive or therapeutic measures are not available and for the timing of testing for childhood-onset disorders. Although the guidelines covering presymptomatic and predictive genetic testing of minors agree strongly that medical benefit is the main justification for testing, a lack of consensus remains in the case of childhood-onset disorders for which preventive or therapeutic measures are not available.263

Many of the guidelines that Borry et al. reviewed did not distinguish between genetic testing for early-onset or late-onset disorders. Of those that did not make the distinction, the consensus was that predictive testing should only be undertaken with persons legally competent to make their own decisions, unless preventative or therapeutic actions could be initiated as a result of testing. 264

The failure to differentiate between testing for early-onset versus late-onset disorders was notable because different issues arose as a consequence of each kind of testing, which might lead to different recommendations being offered (particularly where there were no medical interventions available). Borry et al. suggest that the lack of differentiation may have been as a result of an early focus on adult-onset conditions (HD in particular), or because there may have been difficulties in reaching consensus in respect of testing for early-onset conditions. 265

The eleven position statements that did differentiate between early and late-onset testing made the same recommendation in respect of predictive testing for late- onset conditions. However, it was ‘less clear for childhood-onset disorders for which preventive or other therapeutic measures are not available’.266 Five of the statements considered genetic testing of minors appropriate in these circumstances because of the importance of parental discretion, given the uncertainty about the benefits and harms. That is, genetic testing of minors was permitted if there were useful medical interventions available or the condition was early onset (only one of the criteria need be met).

For these guidelines, testing was considered appropriate on the condition that ‘testing would be in the child’s best interests.’ Because ‘best interests’ cannot be understood in this context as a medical benefit, it should be understood here as a psychological or social benefit.267

Borry et al. note that genetic testing of minors for early-onset conditions for non- medical reasons would not occur if the same rationale requiring clinical benefits were applied as is applied to testing for late-onset disorders.268

Borry et al. note that there are more professional guidelines or position statements on predictive testing of minors than there are about carrier testing. They reviewed fourteen sets of professional policies or guidelines in respect of carrier testing, from twenty-four different organisations.269 Borry et al. intimate that there may be more statements on predictive testing because there is more consensus in respect of predictive testing, or because it is considered more controversial and ‘in greater need of clear recommendations’.270

All of the position statements that they reviewed in respect of carrier testing recommended that carrier testing not be performed on children and that it be deferred until the child could give informed consent to testing. However, the guidelines varied in their statements on: ‘(a) the role of genetic services in ensuring that children are informed about their carrier status and associated risks when they are older; (b) exceptions to the general rule of withholding or deferring carrier testing; and (c) the communication of incidentally discovered carrier status’.271

Borry et al. contend that the child’s autonomy and right to make the decision about testing was the primary ethical principle at stake in the guidelines on carrier testing. Carrier testing could be deferred because it only affected the future of the child concerned and not her parents or guardians. Some guidelines also noted that the child’s right to the confidentiality of the information would also be infringed by being tested as a child.272

Despite the lack of conclusive evidence that carrier testing performed during childhood harms children psychologically, the great majority of genetic testing guidelines espouse the premise that carrier testing might be detrimental to the mental well being of tested children, and as such, should be disallowed in children. Both the BMA and GIG, however, acknowledge that available evidence (that testing is neither beneficial nor detrimental) is insufficient to warrant the global prohibition of carrier testing of children.273

A few of the statements reviewed suggested that children could be carrier tested if this were the only way to discover critical information that would medically benefit a relative. However, the BMA and GIG statements presented a more flexible view of the testing of children:

These two guidelines primarily focused on family dynamics and the individual concerns of family members, stressing that the interests of a child cannot be considered separately from those of his patents and other family members. These guidelines posited that, in the vast majority of cases, agreement to defer carrier testing will be reached after healthcare professionals and parents openly discuss the positive and negative consequences of testing. These guidelines also underscored that the obstinate refusal to comply with a parental request for the carrier testing of a child (e.g., in cases where the parents cannot deal with the anxiety of not knowing the carrier status of their child) may have a more negative impact on the child and his family than would complying with the request. Both stated that having knowledge early on of one’s carrier status could help a child to cope with this information starting in childhood and could reduce the anxiety and uncertainty experienced by parents about their child’s carrier status.274

Most of the guidelines did not deal with informing children of their risk status. The assumption seemed to be that ‘parents, being inherently responsible for the welfare of their children, are also responsible for informing their child of his genetic risk’.275 However, the United Kingdom CGS ‘assigned a clear responsibility to genetic counsellors, stressing that it is the responsibility of both the family and the healthcare system to ensure that carrier testing is offered when the child is older’.276

The position statements and guidelines reviewed above, and those reviewed by Borry et al., take a generally prohibitive stance towards genetic testing of minors (who cannot give their own informed consent) for untreatable late-onset disorders. Medical benefits comprise the main justification for any genetic testing of children, although special circumstances in which testing may result in other psycho-social benefits that outweigh harms are also considered. There is some ambiguity about the approach to be taken to parental requests for genetic testing for early-onset conditions for which no prevention or treatment is available. There appears to be less consensus and there are certainly fewer recommendations in respect of carrier testing of minors. Those recommendations that exist appear to take a slightly more lenient view of such testing than of predictive testing for untreatable late-onset disorders.

What do the various professional guidelines and position statements on genetic testing of minors say about the ability of competent minors to consent to testing?

There is a clear cautionary stance in the New Zealand Independent Biotechnology Advisory Council statement that ‘the testing of children is generally not considered appropriate unless the child will directly benefit from the results of the test,’277 but no reference to the age at which a child might be able to make the decision regarding testing for him or herself.

The Central Regional Genetics Services Protocol for Pre-Symptomatic, Diagnostic, and Prenatal Testing for Huntington Disease (2001) contains the following statements about pre-symptomatic testing of adolescents in particular (at 8):

We have also had requests for pre-symptomatic testing from people under the age of 18 years. So far these requests for testing have been delayed until the consultand turned 18 years. This group requires special care and planning of support. Genetic Services have decided that the lower age limit for pre-symptomatic testing is 18 years of age. Under very special circumstances younger individuals may be tested. Such potential exceptions should always be discussed with the team prior to expectations of testing being raised with the consultand. Potential exceptions may include:

The Predictive Testing in Children and Adolescents 2005 policy acknowledges that different states and territories within Australasia stipulate different ages at which individuals assume personal responsibility for their own health care. Thus while the thrust of the guidelines’ recommendations apply to those under the age of eighteen, the policy recognises that legislation in some regions permits children to make independent health-care decisions at a younger age. The policy further specifies that prior to the statutory age at which independent health-care decisions can be made, a child’s parents have the legal authority to make medical decisions on behalf of the child.

Section 36(1) of the Care of Children Act 2004 permits sixteen and seventeen-year- old minors in New Zealand to make independent health-care decisions. Note that the HGSA policy refers to ‘legislation’ and the ‘statutory’ age at which a person can make health-care decisions. In New Zealand, the Code of Health and Disability Services Consumers’ Rights and Gillick278 give the same right to minors under the age of sixteen who are competent to make their own medical decisions.

The HGSA policy states that when a child under the age of eighteen (or the statutory age of consent)279 requests predictive genetic testing for a late-onset disorder, the health professional must seek to establish whether the child is competent to make an appropriate decision regarding the test, and outlines points to consider when assessing competence (including consultation with medical geneticists, genetic counsellors and psychologists).

The policy appears to support predictive genetic testing of minors under the statutory age of consent who request testing, provided that the minor is competent to make an appropriate decision.280

Autonomy is categorised as one of the underlying ethical principles in respect of predictive testing in children.281 It acknowledges that some adolescents have ‘sufficient maturity’ to make their own decisions about predictive testing. Thus there is a need for flexible consideration of the age at which children and adolescents will be ready for information which will help them in decision-making about testing.

The policy recommends that parents be encouraged to inform their children, ‘at an appropriate age, of the genetic condition in the family and the implications’ so that the child can be raised with knowledge. The policy also states that genetic counselling, using language and terminology that can be readily understood by the child and parents, is an essential prelude to predictive genetic testing. When parents and the minor are in conflict, the counsellor should act as an advocate for the minor, whilst recognising that the minor is part of the family. Counselling needs to focus on

the family and child both together and separately, and it must be recognised that a child may not be able to exercise free choice in the face of strong parental opinions or discord.

Carrier testing is not specifically mentioned by the HGSA guidelines, which focus on predictive testing of minors. There are no HGSA guidelines on carrier testing of minors. There thus appears to be no New Zealand-specific professional guidance on carrier testing of minors. However, the same principles as those espoused in the HGSA policies on predictive testing presumably apply.

The HGSA policies state that predictive genetic testing of minors under the age of eighteen should generally be restricted to testing which has a direct medical benefit to the child. However, both policies explicitly note that there may be relevant law that takes priority over statements in the policy: ‘allowance must be made for legislation

... which permit independent healthcare decisions to be made at a younger age’. Thus, those of or over the age of sixteen in New Zealand can consent to or refuse to consent to predictive genetic testing pursuant to the HGSA policy (and section 36(1) of the Care of Children Act 2004).

The Predictive Testing in Children and Adolescents policy acknowledges that some adolescents may have sufficient maturity to make their own decision about predictive testing and sets out guidance for health professionals in assessing the competence of a child under the statutory age of consent to make an ‘appropriate’ decision regarding testing. The HGSA policy therefore permits minors under the age of sixteen to consent to and refuse to consent to genetic testing if they are competent to consent (in line with our statutory, regulatory and common law as discussed later).

Further guidelines, position statements, policies and recommendations are not necessarily applicable to New Zealand health professionals, but they may be persuasive, and they provide a wider context regarding the way in which requests by competent minors are to be viewed in the clinical genetics setting.

The ASHG/ACMG Report, Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents, 1995,282 frequently refers to the importance of listening to and taking into account the views of competent minors. Indeed, most of the ‘Points to Consider’, recorded at the outset of the document, refer to the need to consider testing requests from competent minors. There is a heavy emphasis throughout the Report on respecting such requests.

The Report opines that there might be ‘strong psychological and philosophical justifications for a more nuanced understanding that grants some level of decision- making authority to children < 18 years of age’.283 It recognises that, as decision-

making capacity increases, greater consideration should be given to the child or adolescent’s wishes, regardless of whether they accord with their parents’ wishes, or their own best interests, and that minors might have a genuine interest in career or child-bearing choice, despite their still being vulnerable to coercion, stigmatisation and altered self-image.284

There are additional considerations when adolescents themselves request genetic testing. For example, if an adolescent requests a predictive HD test the provider must question whether the request is coming from the adolescent or the parent. Where there are uncertain benefits and harms there must be individual assessment of competence and voluntariness.285

Carrier testing is not a specific focus of the ASHG/ACMG ‘Points to Consider’. The Report does mention that the reproductive benefits of genetic testing are of minimal value to children – even to sexually active adolescents, who are apparently unlikely to make family-planning decisions primarily on the basis of their genetic status.286 However, the Report states that exceptions to the principle of deferring carrier testing ‘might occur when the adolescent meets conditions of competence, voluntariness, and adequate understanding of information’.287 More generally, the ‘Points to Consider’ can be applied to decision-making regarding carrier testing.

As with the HGSA guidelines, the ASHG/ACMG Report stipulates that the primary goal of genetic testing should be to promote the well-being of the child. This primary goal could justify the genetic testing of a competent minor upon request, in order to alleviate anxiety and uncertainty, and to enable better decision-making:

Substantial psychosocial benefits to the competent adolescent also may be a justification for genetic testing. The benefits and harms of many genetic tests are psychosocial rather than physical. Relevant issues include anxiety, self-image, uncertainty, and the impact on decisions relating to reproduction, education, career, insurance, and lifestyle.288

However, there is also a great deal of vacillating between the requirement of ‘primum non nocere’ (‘do no harm’, see point 5 under ‘Points to Consider’) and the evident importance of respecting the increasing competence and autonomous choices of minors. This irresolution is perhaps to be expected given that the Report is not a set of guidelines or standards for clinical practice; it sets out points to consider regarding the ethical, legal and psychosocial implications of genetic testing of minors. It gives providers a starting point for acknowledging, and discussing with minors, parents and families, the ethical implications of testing. The final decision regarding whether or not to respect a competent minor’s request for predictive genetic testing clearly may depend on a range of factors, and will be for the provider to decide, with the assistance of other professionals where necessary.

Alternatively, the oscillation between the principle of non-maleficence and respect for autonomy may result from the failure to distinguish clearly at which point the Report is referring to testing of younger children on the basis of parental consent, and when it is referring to requests by competent minors e.g. ‘... the provider’s guiding principle continues to be primum non nocere – first do no harm. Thus, when faced with uncertainty, the provider may be obligated to avoid the possibility of harm, rather than to provide unclear benefits. ... On the other hand, in specific cases where the benefits and harms ... are more uncertain, more weight should be given to the wishes of the competent adolescent’. The first part of this paragraph may well be referring to testing upon parental request, when the benefits and harms are uncertain, and the latter part to testing upon an adolescent’s request when the benefits are uncertain.

The AAP statement, Ethical Issues with Genetic Testing in Pediatrics,289 does not support ‘the broad use of carrier testing or screening in children or adolescents’. However, it states that carrier testing for pregnant adolescents or others who are planning pregnancy might be appropriate if they have been fully informed of the benefits and risks of testing.

The United Kingdom CGS Working Party report, the Genetic Testing of Children,290 focuses predominantly on genetic testing in younger children. However, it clearly states that a child below the statutory age of consent will be able to give consent on the child’s own behalf if the test and its significance can be understood.291

The Working Party observed that there had been significant recent relevant developments in child law. Most notable were the case of Gillick292 and the Children Act 1989, both of which had considerably altered the legal status of children.

Older children can give their own consent if they have sufficient understanding of the issue to make a choice: Gillick and section 2(4) of the Age of Legal Capacity (Scotland) Act 1991. There is a statutory presumption that children of sixteen have sufficient capacity: section 8, Family Law Reform Act 1969 and section 1, Age of Legal Capacity (Scotland) Act 1991. If a minor below that age can understand a test and its significance then that minor will also be able to give consent.294

The Report goes on to highlight the fact that the English Courts had recently held that, even when a child was mature enough to give consent, parents could still authorise treatment against the child’s wishes (see discussion on Gillick).295

However, even if it is legal to do so, it may well be considered unethical to test for genetic status against the wishes of a child with a good understanding of the issues.296

The United Kingdom CGS Working Party Report considers that carrier testing can usually be deferred without any penalty to allow the minor eventually to participate in the decision as an autonomous person. It too states that sexual activity is not a reason for genetic testing and that it should not be assumed that a pregnant teenager at risk for being a carrier would want carrier testing and possible prenatal testing. The Report recommends raising the question of genetic risk with the adolescent either within the family setting or through their family doctor, and that a referral be arranged for genetic counselling when and if the minor so chooses. ‘To push such counselling or testing upon an adolescent (or anyone) is unacceptable, and it is likely to generate more problems than it “solves”.’297 The Report also recommends that, like all adolescents, adolescents who may be carriers should be fully informed about human reproduction and contraception.

The United Kingdom Joint Committee on Medical Genetics recently endorsed the United Kingdom CGS recommendation that testing for adult-onset disorders or carrier testing should be postponed until the child demonstrates Gillick-competence to make a decision.298

The GIG Response to the Clinical Genetics Society Report299 indicated that the issue of ‘how to draw a dividing line between childhood and adulthood, and the consequences this might have for issues related to the genetic testing of children’ was an issue in need of further consideration. GIG suggested that the age at which minors became sexually active might be a better indicator than any fixed age: ‘It is certainly the age at which genetic information becomes important in many circumstances’. 300

With regard to predictive testing for adult-onset conditions in particular, GIG considers that the rights of the affected individuals to make an informed choice at a later date have to be held paramount. It does not elaborate further as to the age at which individuals may be able to make such an informed choice. However, the response does note that in their experience ‘children can cope with information about themselves from an early age and that it is much more often the adult who has a problem in giving information’. 301

In contrast to the United Kingdom CGS, the GIG considered that in many or even most cases the issue of carrier status will be best dealt with at puberty or when the minor becomes sexually active. ‘The child, or young adult, as s/he will then be, would discuss the issues with parents and professionals, and make a decision based upon this.’302

The Nuffield Council on Bioethics 1998 Report, Mental Disorders and Genetics Ethical Issues, noted that section 8(1) of the Family Law Reform Act 1969 allowed minors of sixteen and seventeen years of age to give valid consent to ‘treatment’ as if they were adults: ‘It is probable that only diagnostic testing and perhaps, very rarely, carrier detection would be so regarded’.303

may fall in a novel category raising such complex issues of benefit and possible harm that additional caution should be exercised before leaving the decision solely to the child (particularly if the child is below the age of 16). On the present state of the authorities it is unclear whether, in the case of children under the age of 16, they would be regarded as capable of giving reliable, valid consent to testing which is of no diagnostic benefit and cannot be categorised as treatment.304

In its conclusions and recommendations the Council states that the issues raised in the context of genetic testing for children able to give consent to medical treatment are comparable to those for adults. However, for genetic testing that could not be considered medical treatment, the Council considered that it was unclear whether those under sixteen, in particular, would be regarded as being able to give valid consent to testing.305

The ACGT Report on Genetic Testing for Late Onset Disorders (1998) stated that:

Requests for adolescents themselves regarding presymptomatic genetic testing of late onset disorders deserve full and sensitive discussion, taking into account the individual and their family. If the adolescent is competent to give consent but there are no clear benefits, whilst some may suggest that ideally testing be deferred until the age of majority is reached, we recommend that they are entitled to make a personal decision on this matter after a full discussion and exploration of the issues.306

The ACGT (now subsumed by the HGC) noted that adolescents would greatly vary as to their emotional and mental maturity regarding complex issues for later life. While currently requests from adolescents were rare, they required full discussion with an experienced professional. Certain situations in which testing of adolescents upon request needed to be considered included pregnancy; testing for FAP; and testing for disorders such as familial cardiomyopathy where there may be a history of sudden death in young family members. ‘The situation for each disorder requires careful consideration.’307

The CPSGuidelinesforGeneticTestingofHealthyChildren308 statethatfullunderstanding of the nature and consequences of agreeing to or refusing medical management does not occur until early adolescence, or later. The capacity to understand abstract ideas

of social risk, including loss of privacy, social stigmatisation and potential insurance or employment discrimination may require even greater insight. It is also noted that many adults have difficulty understanding probability and risk in terms of genetic test results.309 The Guidelines acknowledge that ‘It does not seem justified, however, to refuse testing to a fully informed, competent adolescent who is requesting it’,310 and that restricting predictive testing to persons of or over the age of eighteen might infringe individual rights and threaten reproductive autonomy.311

A request for genetic testing by a competent, well-informed adolescent for the purpose of reproductive decision making should be considered, accompanied by appropriate counselling. The decision to include his or her family in the decision making should be made by the adolescent.312

The CPS Guidelines for Genetic Testing of Healthy Children caution that despite the perception that carrier testing may be of low risk because the person tested will not manifest the disorder ‘the child’s right to future reproductive privacy is an important consideration’.313

No age brackets are given in terms of when children might become competent; it is merely noted that ‘full understanding of the nature and consequences of agreeing to or refusing medical management does not occur until early adolescence, and maybe later’. It is thus a maturity or understanding-based competency test. The premise that ‘The ability to understand the abstract concepts of social risk, including loss of privacy, social stigmatization and potential employment or insurance discrimination may require even more sophistication’ is questionable. Adolescents of high school age may well understand the risks involved in loss of privacy and the concept of social stigmatisation, given the environments in which they exist. Health professionals must assess the minor’s competence as an individual and not on a generic concept of what minors are presumed to understand or not understand.

The CCMG Position Statement on Genetic Testing of Children supports the principles outlined in the ASHG/ACMG ‘Points to Consider.’ It further adds that ‘The age at which a child may be offered the test can be the age of responsible understanding, rather than the age of majority’,314 explicitly acknowledging that a competency-based assessment of minors is the appropriate approach.

In Norway, the law prohibits pre-symptomatic, predictive and carrier testing of children under the age of sixteen unless the test can detect a condition for which treatment may prevent or reduce damage to a child’s health.315 The Ministry may in special cases grant exemptions from the prohibition. Predictive testing of children for non-medical reasons is thus against the law in Norway, unless one has an exemption

from the Ministry. It is unclear from the Act whether a competent minor might be able to get an exemption.

Recommendation 15 of the ESHG 2001 Report, Provision of Genetic Services in Europe,316 would allow genetic testing of a minor if ‘necessary for differential diagnosis of manifest symptoms or for establishing the cause of a disease’. Predictive genetic testing for childhood-onset conditions for which there are beneficial medical interventions is also indicated. However, ‘Other predictive tests and tests for carrier status should be delayed until the person is old enough to make an informed decision’. There is no reference to the need for the person to have reached a statutory age of majority – the test is competency based. Therefore, presumably, pursuant to the ESHG policy a competent minor could give informed consent to a predictive genetic test.

The 1998 WHO Human Genetics Programme Proposed International Guidelines on Ethical Issues in Medical Genetics and the Provision of Genetic Services state that, on the basis of the principles of autonomy, beneficence and non-maleficence, ‘Testing of children or adolescents should be carried out only if there are potential medical benefits to the child or the adolescent’. However, the document does note that ‘presymptomatic or susceptibility tests for adult-onset disorders are usually best postponed until adulthood, when the young adult can make her/his own decision’, arguably leaving room for a competent minor to make the decision.317

The guidelines for testing children and adolescents in the 2003 WHO Human Genetics Programme Review of Ethical Issues in Medical Genetics primarily relate to children who cannot give informed consent. With respect to older children:

If the law permits testing of minors, the minor should be the primary decision- maker. Professionals should probe to discern whether the minor is acting on her/ his own behalf (perhaps in agreement with parental suggestion), or is merely carrying out parental wishes without actually desiring to be tested. ... The age at which the emotional and legal maturity required for consent appears is highly variable and also depends on the seriousness of the genetic disorder. Most often it will be advisable to defer testing until adulthood.318

This is a more cautious approach to testing of competent minors than is seen in most of the other guidelines and position statements. However, the recommendations in the WHO documents are ‘intended as points of departure for genetics professionals and public health officials to develop policies and practices in their own nations’.319

All of the guidelines and policies that we have read make a clear distinction between predictive testing of minors for conditions for which there are medical benefits

available, and those for which there are not. Most of them recommend that genetic testing for conditions for which there are no beneficial medical interventions available in childhood should generally be deferred until majority. However, despite the claim that ‘opposition ... exists as the default position in existing guidelines’,320 most of the more prominent guidelines are receptive to the possibility of competent minors requesting and giving informed consent to predictive genetic testing.

The guidelines generally do not explicitly state an age at which competent minors may make such decisions. The lack of an arbitrary stipulated age is to be expected and commended given the emphasis on competence and maturity-based assessment of minors, which is in line with the principles of UNCROC, Gillick, and our Code of Health and Disability Services Consumers’ Rights (all of which are discussed in detail later).

Some of the guidelines and position statements are explicit in their support for the competent minor’s ability to make decisions in respect of genetic testing, most notably the CCMG, CPS and United Kingdom CGS guidelines, and the United Kingdom ACGT Report on Genetic Testing for Late Onset Disorders. However, comments relating to competent minors are often in the commentary or discussion on the guidelines or recommendations, rather than in the actual recommendations themselves. This is presumably because the focus is usually on testing of minors who cannot give informed consent.

The systematic review of twenty-seven papers dealing with guidelines or position papers on predictive genetic testing of minors conducted by Borry et al. revealed not only ‘a remarkable degree of unanimity’321 but also a finding that no guidelines used a person’s eighteenth birthday as a ‘strict rule for accepting or refusing genetic testing for adult-onset disease’.322 All of the guidelines emphasised that age should be given flexible consideration, and that genetic testing should be deferred as far as possible until minors were competent to make their own informed decisions. However,‘several guidelines recommend that assessments of competence and maturity in young people should be made, but little advice is given about how to make such assessments’,323 except for rather vague allusions to, for example, ‘the degree of maturity and state of development’ of the minor.324

In many of the guidelines and statements there is clear support for carrier testing of adolescents who are making reproductive decisions, or who are already pregnant (although the United Kingdom CGS Report cautions against assuming that at-risk pregnant teenagers will want carrier testing and prenatal testing).

As discussed in the section on genetic testing of minors who cannot give a valid consent, Hogben and Boddington take issue with the distinction frequently drawn between testing minors for carrier status, and testing them for late-onset disorders.325

Professional societies and associations have clearly devoted more attention to predictive and presymptomatic genetic testing in minors than to carrier testing. On the one hand, this might be due to the fact that more consensus exists on the policy regarding predictive testing of minors than on carrier testing of minors. Some commissions might indeed have decided to decline discussing carrier testing of minors in their statements because no agreement could be reached. On the other hand, predictive and presymptomatic genetic testing in minors might be considered more controversial than carrier testing in minors and in greater need of clear recommendations.326

Borry et al. also recently conducted a systematic review of guidelines and position papers relating to carrier testing.327 In contrast to Hogben and Boddington’s argument that autonomy takes a backseat to concerns about benefits and harms in the carrier- testing discourse,328 Borry et al. identified the child’s future autonomy as the main ethical argument at stake in the fourteen sets of guidelines on carrier testing that they analysed.

They stated that all guidelines agreed implicitly that eighteen years of age represented the legal borderline between childhood and adulthood, while noting that many guidelines also drew a distinction between childhood and adolescence (without attaching specific ages to the distinction). The differences that distinguished children from adolescents included the gradual development of cognitive skills and moral reasoning, and increasing capacity for participation in decisions about their own welfare.329

Adolescents who met various tests of competence, voluntariness and adequate understanding; decision-making capacity; maturity to take control of their own health care; or ability to participate in decision-making as autonomous individuals were considered competent to request a carrier test. There was also a strong sense that the minors should have parental support in their decision.

... all guidelines recommend delaying carrier testing until the minors can participate themselves in these decisions that are affecting them. Several guidelines state that minors could request a carrier test from the moment they meet conditions of competence and have decision-making capacity.330

The guidelines outlined earlier (and those considered by Borry et al.) do not appear to treat carrier testing less seriously than predictive testing, at least in respect of competent minors. Carrier testing of minors is generally advised against, and the same threshold of competence must be met before minors can give their own consent to testing.

There are some differences amongst the guidelines regarding whether puberty or the time at which a minor becomes sexually active is an appropriate time for minors to be able to give their own consent in respect of carrier testing, given that genetic information about carrier status is almost exclusively related to reproductive concerns. Some statements (e.g. from the AAP and GIG) explicitly note that carrier testing should be provided when the child is becoming sexually active or making reproductive decisions. Others (ASHG/ACMG and CGS) consider that sexual activity is not a reason for carrier testing per se.

It is important to note that minors at risk for late-onset disorders are also at risk for passing a genetic mutation on to their offspring. Any argument that sexually active minors must be able to access carrier testing would also justify their access to predictive testing.

The HGSA guidelines, Predictive Testing in Children and Adolescents, would allow competent minors in New Zealand to give informed consent to predictive genetic testing. Given that there is no professional guidance in respect of carrier testing in New Zealand, presumably the same principles as those espoused in the HGSA guidelines would apply.

Many of the other prominent position statements and guidelines from professional groups in other jurisdictions also provide that minors can make their own decisions about genetic testing, provided that they meet varying standards of competence, understanding and voluntariness. Arbitrary age restrictions are rarely set down.

Given that genetic testing of children is seldom legislated against but that professional groups recommend against it, what evidence is there of particular attitudes towards genetic testing of minors, and what evidence is there of particular professional practice? We next examine professional practice and the attitudes of health professionals and other groups in respect of genetic testing of minors, in the context of the genetics services and testing milieu in New Zealand.

While statements by professional organizations and government task forces are influential, such recommendations may not parallel medical professionals’ and consumers’ beliefs and practices.331

Unsurprisingly, given the dearth of evidence regarding the effects of genetic testing of minors,332 there is a not a great deal of evidence about professional practice in relation to such testing. However, a few overseas studies from the past decade and a half have revealed conflicting information about different groups of health professionals’ attitudes, awareness and practice in terms of genetic testing of children, despite international and national guidelines against screening children for late-onset conditions with no effective medical management. For example,

Recent work demonstrates that pediatricians appear to be relatively receptive to parents’ wishes, while many geneticists express more caution about performing tests that will not yield information needed for the immediate medical management for the child.333

There is a great deal more information about professionals’ and others’ attitudes regarding genetic testing of minors than there is about the practice of testing.

Duncan et al., in a discussion about predictive genetic testing of young people for non-medical reasons,334 noted that almost half (45 per cent) of the professionals who indicated that they had performed a predictive genetic test on a minor under the age of fourteen years for non-medical reasons cited the parents’ desire to know as the main reason for testing (45 per cent). A further three clinicians (14 per cent) indicated that the opportunity for planning was a reason for their provision of the test to the child.335

The most common reason articulated for providing predictive genetic tests for non- medical reasons to a minor aged fourteen years or over was to resolve uncertainty for the young person (thirteen respondents (48 per cent) cited this as a reason). A further six respondents (21 per cent) indicated that the opportunity for planning was a reason for their providing the test to the minor. Two clinicians (7 per cent) provided tests (on parental request) because of parental anxiety, and two (7 per cent) tested for reproductive reasons.

More than half of the respondents (53 per cent, or 159) had refused to perform a predictive genetic test, for non-medical reasons, on more than eight hundred occasions. Many clinicians gave more than one reason for refusing to test. Reasons included to protect the autonomy of the young person (n=75, or 47 per cent); testing did not provide a medical benefit (n=53, or 33 per cent); the possibility of harm (n=23, or 14 per cent); counselling had resolved the issue (n=8, or 5 per cent); and eight respondents (5 per cent) cited policy as a reason for refusing testing. One cited privacy as the main concern in refusing testing.

Duncan et al. questioned respondents as to how much they agreed with the existing guidelines concerning predictive genetic testing in young people. Just over a third of the respondents (104 or 35 per cent) strongly agreed with the guidelines, 141 (47 per cent) agreed, 15 (5 per cent) disagreed, 5 (2 per cent) strongly disagreed, 10 (3 per cent) indicated that they did not know, and 26 (9 per cent) did not answer the question.336

Of the 230 respondents who gave reasons for their views, 99 (43 per cent) cited the need to consider each case individually as a justification for the extent of their agreement with the existing guidelines. For example,

I don’t believe in a rigid cut-off age ... as I believe obtaining maturity to gain informed consent is a gradual process.

I agree for most families but for a minority of cases it is appropriate to test and this should be done on an individual basis.

Each family has its own needs, and no simple absolute rule can accommodate all of these.337

Eighty-eight respondents (38 per cent) commented that the need to protect autonomy was a justification for their view, 74 (32 per cent) cited the weighing up of benefit and harm, and 34 (15 per cent) cited the logic of the guidelines. For example,

The guidelines are well written, make sense and, in my opinion, promote the welfare of children, families and communities.338

Nine respondents (4 per cent) felt that it was inappropriate for clinicians to make the decisions about testing, as opposed to the family making the decisions: ‘Refusing testing is paternalistic’.339

Wertz documents results from a thirty-seven nation survey of 2903 geneticists, and surveys of 499 United States primary care physicians, 409 parents visiting genetics clinics in the United States and 988 members of the United States public. 340

Of the 2903 geneticists who responded to the survey, 1084 were from the United States. In terms of the United States views, large majorities of geneticists (81 per cent), the primary care physicians (89 per cent), parents (93 per cent) and the general public (84 per cent) considered that parents should be able to have their children tested for familial hyper-cholesteroleamia. Likewise a significant majority of each group thought that parents should be able to have their children tested for susceptibility to inherited cancers: 70 per cent of geneticists; 81 per cent of primary care physicians; 93 per cent of parents; and 84 per cent of the public.

Around half of the geneticists (48 per cent) would allow parents to test their children for predisposition to alcoholism, whilst three quarters (76 per cent) of the primary care physicians would give parents that right. Just 27 per cent of the geneticists would allow parents to have their children tested for the HD mutation, compared with 66 per cent of the primary care physicians. Only a quarter (25 per cent) of the geneticists would allow parents to have their children tested for predisposition to Alzheimer’s disease, compared with 58 per cent of primary care physicians, 62 per cent of parents and 53 per cent of the public.

These results point to a dichotomy between geneticists and the rest of the US medical community, whose views closely paralleled those of their patients.341

In terms of reasons given for their answers, 66 per cent of respondents indicated that a desire to avoid harm was important, whether through early treatment or prevention, or by protecting a child from potentially damaging knowledge about risk status. Other reasons included making the information available for decisions about medical management (43 per cent); protecting the child’s autonomy (25 per cent); respecting parental autonomy (13 per cent); believing that there was no need to know at this time (13 per cent); preparing for the future (9 per cent); and avoiding the possibility of stigmatisation (3 per cent).342

There was a marked difference in geneticists’ willingness to test between the United States, other English speaking nations and Northern and Western Europe, and other regions such as southern and eastern Europe, the Near East, Latin America and Asia. The majority of geneticists from the latter regions think that parents should be able to have their minor children undergo predictive testing for HD, Alzheimer’s disease, alcoholism, cancer genes and familial hypercholesterolaemia. ‘Willingness to test in these regions appears to stem from cultural beliefs about the rights of parents and their authority over their children.’343

Geneticists from the United States indicated more agreement with parental rights to have their children tested for HD, Alzheimer’s disease and alcoholism than geneticists from the other English-speaking countries. This result was partly as a result of the very low number of United Kingdom geneticists who indicated that they would test minors for these conditions.

With respect to the geneticists from the English-speaking countries (United States, Australia, Canada, South Africa and the United Kingdom), the Australian and United Kingdom geneticists were more likely to have received a request to test a minor for a late-onset disorder than geneticists from the other nations. Wertz suggests that this greater experience with testing requests may have partly contributed to the greater reluctance of United Kingdom geneticists to accede to parental requests for testing.

The opinions of geneticists, both from the United States and the United Kingdom, and primary care physicians from the United States, were reasonably evenly divided about whether to wait until the child reaches the legal age of majority to tell him or her about the genetic test results (except that 73 per cent of United States primary care physicians favour telling a child before the age of majority). Generally speaking, fewer parents than providers would tell children about test results before the age of majority (54 per cent for familial hypercholesterolaemia, and 47 per cent for cancer susceptibility).

Wertz notes that ‘These responses appear to be somewhat contradictory to the stated purpose of testing, which is to begin treatment or monitoring early. If not told, the child may wonder about the purpose of medication, diet or medical testing’.344

Only a minority (41 per cent United States, 20 per cent United Kingdom) of the geneticists would tell a minor about his or her predisposition to alcoholism before the age of majority, while the majority of primary care physicians (68 per cent) would inform a minor before that time. Most geneticists would also not inform children of the results of HD or Alzheimer’s disease testing before the age of majority: just 12 per cent of United Kingdom geneticists would inform minors of either of the test results before majority and, of United States geneticists, just 20 per cent would inform a minor of an HD test result, and 18 per cent would inform a minor about an Alzheimer’s disease test result before majority (compared to 44 per cent and 46 per cent of primary care physicians for the respective disorders). Just under a third (31 per cent) of parents would inform a minor of Alzheimer’s disease results before majority, with 55 per cent deferring disclosure until majority, and 14 per cent indicating that they would never tell their child the test results.345

United States geneticists and primary care physicians were also asked whether an at-risk sixteen-year-old should be allowed to refuse genetic testing, if his parents wanted him tested for a condition which was preventable or treatable if diagnosed early; a condition for which there was no effective prevention or treatment; or a late-onset condition.346

Paediatricians were more likely than other specialists to say that a sixteen-year-old should not be able to refuse testing for a treatable disorder. However, geneticists too were generally against sixteen-year-olds being able to refuse testing for a preventable or treatable disorder (just 22 per cent indicated that they should be able to refuse).

Almost all of the geneticists believed that a sixteen-year-old should be able to refuse a genetic test for a late-onset disorder (95 per cent), or a disorder for which there was no effective prevention or treatment (96 per cent). Fewer of the primary care physicians believed that sixteen-year-olds should be able to refuse testing for a condition for which there was no effective prevention or treatment (84 per cent), and fewer still believed that they should be entitled to refuse testing for a late-onset condition (68 per cent).347

Wertz comments that America’s ‘overwhelming cultural belief ’ in autonomy is reflected in the survey responses. For example, more than a third (36 per cent) of United States geneticists thought that patients were entitled to whatever services for which they could pay out of pocket, compared to just 4 per cent of United Kingdom geneticists. Wertz notes that ‘Many US physicians appear to have forgotten that they can ethically refuse a service that provides no known medical benefit’.348 However, United States parents were even more ‘autonomy-oriented’ than either group of providers:

What consumers want is every service they ask for, without limit. They believe that nothing should be withheld (this would be a ‘denial of patients’ rights’) and that patients are ‘entitled’ to whatever service they request, as long as they can pay for it out-of-pocket.349

A subgroup of the EUROSCREEN Project (set up by the EU to examine bioethical issues) distributed questionnaires to 932 ESHG members regarding their attitudes about genetic testing of children. The response rate was low: 189, or 20 per cent.

Respondents were questioned as to their willingness to test a child in each of ten distinctive scenarios, relating to carrier or predictive testing for various disorders, at various ages, and in various family circumstances.350

Respondents exhibited a general reluctance to undertake predictive genetic testing of young children, more so in relation to testing for HD than for a BRCA1 mutation:

162/189 (86 per cent) were unwilling to test a 2-year-old and 161/189 (85 per cent) a 12-year-old for Huntington’s disease and 150/189 (79 per cent) were unwilling to test a 6-year-old girl for BRCA1 mutations. If the 12-year-old child at risk of HD wanted to be tested then 142 would still be unwilling to comply, and if the child did not want to be tested then 177/189 (94 per cent) would be unwilling to perform the test.351

There was less reluctance among European geneticists to test for carrier status for cystic fibrosis (CF), particularly where the child to be tested was old enough to express a desire to be tested.

While 106/189 (56 per cent) were unwilling to test a 5-year-old for cystic fibrosis carrier status and 105/189 (56 per cent) were unwilling to a test a 12-year-old, this fell to 63 (33 per cent) if the (12-year-old) child wanted testing and rose to 167 (88 per cent) if the child did not want testing.352

By their answers, most of the respondents indicated that their decisions would be modified by the expressed preferences of a twelve-year-old child.353

Because of the low response rate the researchers did not attempt to search for statistically significant differences between countries: the respondents could not be regarded as representative of their nations.354 However, there were more responses from Britain (twenty-five) and from Germany (thirty) than from other countries, and so these were compared with each other, and against the overall patterns of ‘willingness’ to test. British geneticists were somewhat less willing to test children than the overall set of respondents, and German geneticists were markedly less willing to test children.355

Some respondents from Turkey, Japan, the former USSR, Britain, Denmark, Greece, Italy and Spain indicated that they were very willing to test children for a variety of disorders, including HD or CF carrier status. There was much greater consensus to defer testing among the respondents from Scandinavia, the Netherlands, Germany and Austria.356

The Report of a Working Party surveyed geneticists, co-workers, paediatricians, haematologists and family and patient support groups.357

Two-thirds, or 184, of the 512 respondents (66 per cent) considered predictive genetic testing in childhood to be justified in some circumstances where there might be a health benefit to the minor (e.g. by way of monitoring diet, treatment surveillance or other improvement in medical management). Sixteen per cent of respondents considered that such testing was not justified. A minority of respondents indicated that they wished to offer testing for disorders for which there were no clearly established beneficial interventions.

There was also a myriad of views on the rights of parents to request genetic testing for their child even when the result would have no direct health benefit for the child. Geneticists (57 per cent) and particularly their co-workers (29 per cent) were less likely than paediatricians (75 per cent) to consider parental wishes alone sufficient to

justify testing children. Eighteen (39 per cent) of the clinical geneticists thought that a parental right to request should apply to testing for certain disorders only. However, the majority of respondents (364=71 per cent), and paediatricians and haematologists in particular, thought that parents did have the right to request predictive or carrier testing for their child. Similarly, 74 per cent of the respondents agreed that it was up to the family to decide (not only to request) whether or not their children should undergo predictive or carrier testing: geneticists 46 per cent; co-workers 35 per cent; paediatricians 79 per cent; and haematologists 84 per cent.

In terms of which people or agencies had the right to request genetic testing of a child, the predominant view amongst geneticists and their co-workers was that they would not consider requests from anyone other than the parents or their medical advisers. Paediatricians were more willing to accept requests for genetic testing from adoption agencies. Haematologists thought that medical practitioners should have the right to request testing.

Apropos attitudes about purported advantages and disadvantages of genetic testing in childhood:

There was some evidence that respondents were more confident of recognizing potential advantages of testing than they were of recognizing the potential disadvantages.358

The seven points offered as potential advantages of genetic testing in childhood were all regarded positively by a large majority of the respondents. However, clinical geneticists were less likely to agree and all fieldworkers disagreed with the statement that testing in childhood would result in a ‘more responsible’ approach to reproductive matters in later life. A majority of paediatricians and others agreed with that statement.

In terms of attitudes about the potential disadvantages of genetic testing in childhood, professional differences were noted.

Paediatricians were evenly divided as to whether or not the child’s sense of self- esteem could be damaged by testing, whereas a small majority of geneticists and a large majority of fieldworkers thought that this could be an important disadvantage of such testing.359

Some months after the first questionnaire, a supplementary questionnaire was sent to members of the CGS and to consultant members of the British Paediatric Association. The second questionnaire asked whether respondents would be willing to arrange predictive or carrier testing of a five-year-old for a number of different disorders. ‘It was hoped that differences in the acceptability of testing for different disorders might allow inferences to be drawn about the factors that influence professional attitudes’.360

There was a total of 324 responses: 260 paediatricians; forty-nine geneticists; seven co-workers; and eight haematologists. The same trends emerged as from the earlier questionnaire: paediatricians were more likely than geneticists and co-workers to favour genetic testing in childhood. Perhaps surprisingly:

Therewas little to suggest that the availability of an early treatment or surveillance for complications for a disorder made any difference to the readiness to test for it. Respondents fell into two broad groups, that in which most tests were approved, and that in which most would be refused. The most important factor ... seems to have been the respondents’ attitudes to such testing in general, and the nature of the various disorders seems to have had relatively little influence.361

Only in respect of HD and prion-protein dementia was there widespread unwillingness to carry out predictive testing of a young child. However, many paediatricians still expressed a readiness to carry out predictive testing of a five-year-old for these disorders. There was a lack of consensus over testing for other late-onset disorders for which there were no useful interventions.

A letter and a set of questions were sent to 108 family support groups affiliated to the GIG. The Working Party hoped to arouse interest in the issues and elicit accounts of family experiences of childhood testing, and to discover the attitudes of those affected by genetic disorders and their families.362

They received seventy-eight replies, which were grouped into three broad categories. There were forty-one replies that favoured a policy of not performing predictive testing or carrier testing in children. Reasons given for opposition to such testing included the belief that testing destroys the innocence of childhood; testing should not be done for parental peace of mind; the decision is for the child in adulthood; testing might label children; and society might become less tolerant. Those opposed to predictive or carrier testing of minors generally favoured the right of health professionals to decide whether or not to proceed with parental requests for testing.

There were fourteen replies that indicated that carrier testing in childhood was appropriate, but predictive genetic testing was not. Some of these had reservations

e.g. that the child had the right to decide about testing at an age-appropriate time.

A further nineteen replies indicated support for predictive genetic testing, and were roughly evenly divided as to whether carrier testing was appropriate.363 Those who supported genetic testing in childhood gave reasons such as that parents should have the opportunity to either allay their fears and the stress on the family, or to make provision for the moral, emotional and financial support of their child; the person ‘at risk’ for late-onset disorder should be made aware of it in order to prepare for the future; and carrier testing is essential so an informed decision on reproduction can

be made. Those in favour of childhood testing were generally opposed to professional control of testing, viewing it as overly paternalistic.

Richards et al. sent a postal survey to Women’s Institute (WI) members who participated in the Women’s Institute-organised Conference on New Genetics in 1995. Each of the sixty-four attendees was also asked to pass on questionnaires to two other members of their local WI who were of similar age and had a similar number of children (which yielded a further 128 respondents). A similar questionnaire was also completed by seventy-three first-year university social science students.365

The questionnaire posited a number of statements and asked the respondents to indicate to what extent they agreed with the statements. In response to the statement ‘Parents have a right to ask for their child to be tested for genetic disorders that develop in adulthood’, respondents were fairly evenly divided, with the students showing slightly more disagreement. A bare majority of middle-aged women and slightly fewer students believed that parents should have a right to have their children tested for late-onset disorders.366

Only a minority of respondents (19 per cent of students, and around 25 per cent of the WI members) indicated that they were themselves interested in having a predictive test for a late-onset disorder. However, as Richards notes: ‘Of course, it is quite consistent to believe that such a right should be generally available but not choose to exercise that right in the case of your own family of yourself ’.367 However, he cautions that the respondents may not have been fully aware of the implications of predictive testing of children and that they perhaps saw the issue ‘as more of a general one about the position of parents in relation to their children than a balancing of the pros and cons of genetic testing from both the parents’ and the child’s perspective’.368

Sixty-two adults affected by the FAP mutation were questioned by Whitelaw et al. (1996) in semi-structured interviews as to their views on the most suitable age to test children for the FAP mutation, and to inform them about FAP. The vast majority (fifty-eight, or 93.5 per cent) indicated that they would like their children tested at birth, if this were possible. One participant indicated that testing at ten years of age was appropriate, and the remaining three indicated that testing should be undertaken at puberty.370 Reasons given by those who wished for their children to be tested for the FAP mutation at birth, included removing the ambiguity about the disease status of their children and satisfying parental curiosity.371

In terms of the most suitable age at which to inform children about FAP, twenty of the fifty-one participants who responded to the question indicated that ten years of age was appropriate. A further thirteen suggested between the ages of thirteen and fourteen years was the most suitable age. Just three respondents thought that a child should be informed below the age of ten years, and one thought that the information should be deferred until the child was over fourteen years. The remainder indicated a suitable age somewhere between eleven and fourteen years.372

There was a widespread feeling among the interviewees that children should not be told about polyposis until they were ‘old enough to understand’. Most parents considered between 10 and 12 years to be the most appropriate age to introduce the subject, as they did not feel it was fair to ‘spring’ the diagnosis at the often emotionally turbulent time of puberty. However, it is interesting that 58/62 (93 per cent) wished to test their children at birth and withhold this information from them for a decade.373

Around a quarter (26 per cent) of Wertz and Reilly’s 105 laboratory respondents thought that ‘parents should always have a right to request tests on behalf of their minor (less than eighteen years old) children, even if the child objects’. Assuming that the child does not object, 61 per cent of respondents indicated that they would process a sample for carrier testing for CF where parents have requested it for a seven-year-old.375

The age of sixteen appeared to be the pivotal point at which many respondents thought ‘adolescents should be able to request tests on their own’. Half considered sixteen or seventeen to be the appropriate age, 27 per cent favoured the ages of fourteen to fifteen, and 15 per cent thought that minors should not be able to request tests until they reached the age of majority. The vast majority of the laboratories reported that they would test a sixteen-year-old for carrier status if the adolescent requested it.376

A total of 18 per cent of laboratories had been called by physicians who had expressed concern about the ethics of testing children or adolescents (concerns were spread equally across the minors’ ages).377

A questionnaire designed by Rosen, Wallenstein and McGovern to determine attitudes towards genetic testing of minors was distributed to 160 paediatric residents in training programmes at three metropolitan New York hospitals. A total of sixty- four residents responded, giving a response rate of 40 per cent.

The questionnaire was based on two clinical vignettes. One involved a four-year- old boy with fragile X retardation. Questions related to the duty of the physician to inform other family members of the diagnosis; the duty to inform the parents about the possibility of prenatal testing (PNT); and the appropriateness of carrier testing a cognitively normal nine-year-old sister. The second vignette related to a ten-year-old boy at risk for HD. Questions related to the minor’s autonomy; informed assent; and the importance of certain factors in deciding whether and when to order a test for the minor.

The vast majority of respondents recognised a responsibility to inform the mother of such a child of the availability of PNT. Most (84 per cent) would also suggest that the mother inform her wider family of the diagnosis, and 70 per cent indicated that they would follow up to ensure that this had occurred. The vast majority (89 per cent) recognised the need to inform the boy’s sister of the heritable pattern of the disorder: 31 per cent indicating it would be appropriate to do so at the girl’s current age of nine, and 86 per cent indicating it would be appropriate to do so by the time she reached her teenage years. Eighty-five percent also recognised the need for carrier assessment of the daughter, with 56 per cent indicating willingness to order carrier testing at the girl’s current age of nine.

Thirty-nine per cent of the respondents indicated that they would test the ten-year- old for HD if the parents requested it, while 45 per cent would not, and 16 per cent were unsure. Of the respondents who indicated that they would test at the age of ten years, approximately a quarter (24 per cent) said that they would obtain assent from the child before testing.

If the parents asked for testing when the son was 17 years old, 52 per cent would order it, 31 per cent would not, and 17 per cent were unsure. Eighty-four percent of those who would order the test at age 17 would obtain assent from the son. Respondents were more likely to order the test at both ages if the request came from the son (44 per cent vs 39 per cent for age 10 and 89 per cent vs 52 per cent at age 17), but this difference was only significant at age 17 (P < .001).379

The lack of any preventive measures or treatment (39 per cent) and parental reaction if the results were positive (33 per cent) were the main reasons given by those who would not order a predictive HD test for the ten-year-old.

The authors, Campbell and Ross, conducted semi-structured interviews with a convenience sample of thirteen geneticists and twelve paediatricians regarding how they would react to parental requests for predictive genetic testing of their children, and their attitudes about testing their own children. The interviews explored issues relating to access and confidentiality with regard to genetic testing of children for conditions such as PKU (genetic disorder characterised by inability to utilise the essential amino acid phenylalanine),381 Duchenne muscular dystrophy (DMD), familial adenomatous polyposis (FAP), BRCA1 mutations, ApoE mutations (associated with late-onset dementia),382 carrier status for autosomal recessive conditions and behavioural genetics.383

Differences between paediatricians and geneticists were not significant, perhaps due to the small sample size. All of the health professionals were in favour of PKU testing. However, there were differing views regarding the appropriateness of testing for early-onset conditions for which early treatments were ineffective. Similarly, there was divided opinion about testing adolescents for the BRCA1 mutation or for carrier status. The health professionals were generally opposed to testing for behavioural genetics and for late-onset conditions for which no treatment exists (e.g. for the ApoE mutation). Overall, 72 per cent of the participants disagreed with the use of at least one of the genetic tests in children or adolescents.384

Despite the willingness of some health professionals to perform predictive testing of children for early-onset conditions for which no effective interventions exist, two- thirds indicated that they would not want to pre-symptomatically test their own children if they were at risk. They were also less likely to test their own children for BRCA1 or carrier status.

However, if their own adolescent requested testing, and there was a family history, virtually all of the HCPs would support their adolescent’s request for BRCA testing and a majority would support their adolescent’s request to learn his or her carrier status and ApoE4 status. Behavioural conditions were the only conditions for which less than 50 per cent of the HCPs would support their adolescent’s request for genetic testing.385

None of the health professionals would test adolescents for any of the conditions under discussion solely on the basis of a parent’s consent: all of them would require the adolescent to be part of the consent process. Additionally, some health professionals would allow the adolescent to consent on his/her own to BRCA 1 testing (16 per cent), to carrier testing (24 per cent) and to ApoE4 testing (4 per cent).386

The majority indicated that they would allow parents to test an infant child for BRCA 1 (80 per cent) and carrier status (72 per cent). Only a minority would allow parents the same right in respect of testing an infant for the ApoE4 mutation (32 per cent) or for behavioural conditions (36 per cent).387

The results indicated that hesitancy to provide genetic testing when it was not clinically indicated increased as the time between testing and disease-onset increased, and when the testing was less accurate or specific (e.g. for ApoE4 and behavioural genetics).388

Overall, health professionals were often willing to comply with parental requests for genetic tests that they did not believe were clinically useful and would not procure regarding their own children, even if they were at risk. However, most of the participants (72 per cent) would refuse to provide at least one of the genetic tests under discussion.389

A survey was distributed by Riordan and Loescher to all 428 University of Arizona medical students during the 2003–4 year. The survey consisted of three vignettes regarding genetic testing for HD, for the BRCA 1 mutation and carrier testing for CF. For each vignette students responded to whether they would provide testing for a seven-year-old and a seventeen-year-old, and their reasons in respect of each age and each condition. The response rate was 31.5 per cent (n=135).391

Medical students were significantly more likely to test a seven-year-old for CF carrier status (57 per cent) than they were for a BRCA 1 mutation (47 per cent), or an HD mutation (40 per cent). Students were significantly more likely to test a seventeen- year-old than a seven-year-old, for all of the conditions: 84 per cent would test a seventeen-year-old for CF carrier status, 83 per cent for a BRCA1 mutation, and 77 per cent for HD. When the ‘yes’ and ‘maybe’ responses were combined, a majority of students would agree to or would consider testing a seven-year-old or a seventeen- year-old for all of the conditions.392

Students who had completed a medical genetics course were less likely to test either age group for any of the conditions, than students who had not completed a formal genetics course. However, the only statistically significant difference was that those who had completed a genetics course were less likely to test a seven-year-old for a BRCA 1 mutation (26 per cent), than students who had not completed a formal course (62 per cent).393

The main reasons students gave for not providing genetic testing were autonomy of the minor; no medical benefit to testing; possible psychosocial harm; limited

predictive value of test; insurance; and the legal status of the minor. Concerns about the minor’s autonomy and a lack of medical benefit were the main reasons medical students would refuse testing of a seven-year-old for any of the conditions. Possible psychosocial harms arising from testing were particularly a concern in respect of testing a seven-year-old. The limited predictive value of a BRCA1 test was a reason cited to not test a seven-year-old or a seventeen-year-old.394

The main reasons students gave in favour of testing were categorised as being early detection/preventive measures; mature minor; minor personally requests testing; ability to prepare for future, and make reproductive choices; possible future treatment; parental autonomy; right to know; no harm caused by testing; and important to know one’s genetic status.

Commonly cited reasons to provide genetic testing for a 17-year-old for all three conditions were the minor’s personal request for testing and the belief that the minor is mature. The ability to prepare for the future and to make reproductive decisions was a frequently mentioned reason to tests for an HD mutation and for CF carrier status, particularly for testing a 17-year-old for CF carrier status. The most commonly cited reason to provide BRCA1 mutation testing for both a 7- and a 17-year-old was the possibility of early detection and /or preventive measures for breast cancer. Many students identified possible treatment as a reason to test a 7- and a 17-year-old for CF carrier status.395

Several of the medical students indicated that they would require the seventeen-year- old to undergo counselling or would need to evaluate each case individually prior to deciding whether or not to test.396

4.l2 attitudes of mothers of paediatric oncology patients towards cancer susceptibility testing397

Patenaude et al conducted interviews with forty-seven mothers of paediatric oncology patients about their interest in hypothetical predisposition testing for themselves and their healthy children, and the anticipated impact of testing.398

If genetic cancer predisposition tests were available, 51 per cent of mothers would test themselves and 42 per cent would test healthy children even when there was no medical benefit to testing. If there were medical benefits to testing, then an additional 36 per cent of mothers would seek testing for themselves, and another 49 per cent would seek testing for their healthy children.399

Mothers who would not be tested in either case reported absence of family history, not wanting to live in fear, and the belief that there was nothing to be done about it, as reasons for not wanting testing. The few mothers who would not test their children

whether or not there were medical interventions available cited the following reasons for their position: not wanting to worry themselves or their children; wanting to leave the choice about testing up the child; avoiding the risk of uninsurability; and believing that the knowledge would not change anything.400

In terms of how they would respond to knowledge that their healthy child carried a mutation predisposing him or her to cancer: 64 per cent of mothers thought that they would become depressed; 55 per cent thought that they might seek counselling; and 66 per cent thought they would implement lifestyle changes, such as quitting smoking and improving diet. Ninety-two percent reported that they would react more urgently to symptoms that could indicate cancer; 85 per cent would have more tests performed regularly on the child; 81 per cent would increase the frequency of the child’s medical appointments; 74 per cent would generally watch over the child more carefully; 51 per cent felt that they would be more likely to give the child more attention; and 36 per cent said that they would be likely to seek counselling for the child.401

Mothers reported that knowing that the child did not carry the mutation would lower their anxiety about the child’s health.402

In terms of decision-making in respect of a child, 21 per cent of the mothers stated that parents alone should make the decision about whether to have a child tested for cancer susceptibility. Twenty three percent felt that children’s views should be sought and considered in the decision, and 55 per cent thought that the extent of the child’s involvement in the decision should very much depend upon the child’s age.403

The age at which mothers felt that children could be involved in the decision-making was highly variable: 9 per cent would consider the views of a child under seven years; 18 per cent would consider the wishes of a child between the ages of seven and ten years; half (50 per cent) would consider the views of children between the ages of eleven and seventeen years; while 22 per cent would only involve those over the age of eighteen years in the decision-making process.404

Age was also considered to be in determining factor in when mothers thought children should be told the test results: 5 per cent favoured telling children under the age of seven years; 12 per cent would tell a child between seven and ten years; just over half (51 per cent) would tell a child between the ages of eleven and seventeen years; and a third (33 per cent) would not tell a child the test results until he or she was eighteen years old.405

Hamann et al. (2000) noted that most of the research on attitudes towards genetic testing of minors is ‘based on responses to hypothetical scenarios presented to individuals who have not experienced genetic testing’.407 Their study focused on attitudes towards BRCA1 testing for children among adults who had received test results themselves for a family-specific BRCA1 mutation.

Two hundred and eighteen individuals were followed up by telephone interview four to seven months after receiving their BRCA1 tests results. Only 26.1 per cent agreed that children under the age of eighteen years should have the opportunity to be tested for a BRCA1 mutation. The majority (61 per cent) disagreed, and a further 9.6 per cent responded that they did not know or that ‘it depends’.408

Predictors of permitting testing for children under the age of eighteen years included: being male, being a non-carrier, and not having a mother with breast cancer. Not having minor children, and having generally positive attitude about the benefits of genetic testing, were also associated with permitting testing.409

Of the 218 participants, 104 had minor children. Only eighteen of these individuals (17.3 per cent) indicated that they would want their own children tested for a BRCA1 mutation; 82.7 per cent would not want their children tested. Most of the participants were consistent in disagreeing that children under eighteen should be allowed testing, and that they would not want their own children tested; however, 7.7 per cent who permitted testing for children under eighteen years would not endorse it for their own children, and 4.8 per cent did not support testing of children generally, but wanted it for their own children.410

Hamann et al. noted that their findings, amongst people who had actually been tested themselves for the BRCA1 mutation, showed significantly less support for genetic testing of minors (e.g. compared to Patenaude’s study with mothers of paediatric oncology patients).

One potential explanation for this finding is that the individuals who have experienced genetic counseling and testing themselves may be more aware of the possible consequences and limitations of testing than those who have not been counseled and tested.411

4.l4 switzerland: Future lawyers’ and physicians’ attitudes towards predictive testing for hD, 20064l2

Between 1994 and 1997, six groups of fifth year medical students attending the legal medicine and clinical ethics courses at the Universities of Geneva and Lausanne, and five groups of students attending law and medicine courses at the same

universities, participated in the Elger and Harding research programme. They all received an introduction to fundamental issues of medical law and ethics, including a presentation on informed consent, competence and confidentiality. They also received some information about HD and watched a fifteen-minute video interview of a thirty-eight year old woman who had recently been diagnosed as suffering from HD. The video informs the viewers that the woman has two sons aged ten and sixteen years and she is adamant that she does not want them told about or tested for HD at the moment.

Students filled out a standard questionnaire as to their level of agreement with statements regarding whether the older son should be informed of his mother’s HD, and whether the children should be tested for HD.

The global response rate was 86 per cent. No differences were found between medical and law students with regard to their answers about the adolescent son: 75 per cent thought that the sixteen-year-old son should be informed of his mother’s HD, despite her wishes; and 91 per cent indicated that he should have the chance to be undergo predictive testing for HD if he wanted to. However, significant differences were found regarding testing the ten-year-old son: more law students (44 per cent) than medical students (30 per cent) were in favour of testing the younger son for HD against his mother’s wishes.413

Most of the comments in respect of whether or not the sixteen-year-old son should be informed of the mother’s HD were to qualify agreement with the statement. For example, ‘the question needs to be discussed with parents’, and ‘inform if the adolescent is sufficiently mature’. Some students, particularly medical students, were concerned about the psychosocial harm that might result from informing the adolescent.414

Those opposed to informing the adolescent raised related concerns: it is the parents’ decision to inform; the adolescent is not mature enough to be informed; and psychosocial harms might result from informing him.415

With regard to whether the sixteen-year-old should have the chance be tested for HD, many students emphasised the importance of the testing being voluntary, and not an obligation. The very few students who opposed allowing the sixteen-year-old to be tested indicated that he was ‘too young’. 416

Several students felt that the ten-year-old was too young to understand the implications of HD testing, and that testing should be deferred. Some who agreed that he should be tested advocated testing but not informing the child of the results. Concerns were expressed about the potential psychological harm that could result in informing or testing the ten-year-old.417

The authors note that their study differed from others in that they questioned participants as to whether minors should be tested against parents’ wishes.

Clearly, students thought that parents’ desire that their child not be tested should not deprive the 16-year old son of the chance to decide about a test himself. Interestingly, students in favour of testing referred mainly to a ‘rights’ argument, and not to potential benefits of testing. The right to test was clearly linked to the capacity and maturity the 16-year old is supposed to have compared to his 10- year old brother.418

Elger and Harding suggest that the potential benefits of knowing one is at risk for HD, or of being tested, may not have mentioned by many students because of the extreme distress of the woman whom the students watched on the video. However, they also highlight that the ‘rather negative risk–benefit ratio was not a sufficient reason for most students to override the right of the adolescent to be tested’.419

They raise the idea that the youthfulness of the survey participants might have influenced their reluctance to say that adolescents should not have choices in respect of testing, having recently been that age themselves.420

Attitudes of advanced medical students did not differ from those of young law students concerning genetic testing of adolescents and respect of parents’ wishes in spite of medical students’ greater knowledge in genetics, experience with patients and theoretical and clinical training in paediatrics.421

4.l5 Belgium: Flanders midwives’ and nurses’ attitudes towards predictive testing for breast cancer and hD422

Postal questionnaires were sent by Welkenhuysen and Evers-Kiebooms (2003) to 119 midwives and 881 nurses, with a response rate of 58 per cent (n=69) from the midwives, and 33 per cent (n=293) from the nurses. Among other questions relating to predictive testing of adults, respondents were asked to indicate their level of agreement with the acceptability of predictive testing for BRCA1 or HD in the case of parents requesting a test for their five-year-old child, and in the case of a sixteen- year-old adolescent requesting testing for herself. They were also asked to explain why they agreed or disagreed with such testing.

There were no significant differences between the midwives’ and the nurses’ responses. Agreement was highest for an adolescent requesting a predictive test for BRCA1, with

88.4 per cent agreeing at least somewhat to completely. A total of 82.3 per cent agreed at least somewhat to completely with adolescents requesting a predictive test for HD. The next highest level of agreement was for parents requesting a predictive test for

HD for a five-year-old, with 54.4 per cent agreeing at least somewhat to completely. And, finally, just 43.1 per cent agreed somewhat to completely about the acceptability of parents requesting a BRCA 1 test for a five-year-old.423

In terms of reasons given for the level of agreement or disagreement with testing of minors:

Ethical arguments referring to personal autonomy were mentioned frequently for all four ratings concerning minors: in the case of testing an adolescent at his/her own request (table 8), they concerned the autonomy of the adolescents and were used as arguments in favour of testing; in the case of testing a child at the parents’ request (table 7), they concerned the autonomy of the child and were used as arguments against testing. On the other hand, a minority tended to override the autonomy of the child in favour of the parent’s right to know, especially when predictive testing for HD was concerned. In both tables, medical arguments in favour of testing appear as important explanations for the rating for predictive testing for HBC, but they remain absent for HD. ... As for references to psychological issues, they were more prominently used (see tables 7 and 8) as arguments against predictive testing of minors than as arguments in favour, with special attention for psychological ‘immaturity’ as an argument against predictive testing in adolescents at their own request.424

The authors note in their discussion that the ethical arguments in favour of testing of adolescents at their own requests ‘are in line with the general evolution in medicine not to adhere to a strictly age-based criterion, but to take into account the adolescent’s maturity and decision-making competence’.425

4.l6 the netherlands: Parental attitudes towards testing for familial hypercholesterolaemia (Fh)426

This paper by Umans-Eckenhausen et al. (2002) reports on a telephone survey with seventy parents in thirty-five different FH kindreds. Half of the participants were FH carriers, and the other half were their spouses. Sixty-one (87 per cent) of the parents wanted their children tested for FH, while nine parents (13 per cent) did not. The parents were unanimous in twenty-eight of the thirty-five couples (twenty-seven in favour of testing, one couple against), and in seven cases the parents disagreed.427

Whilst parents indicated that ‘information’ was the most important factor in their decision-making about testing, the multivariate analysis showed that emotion was the actual only predictive factor of the decision to test. ‘These data indicate that the decision is based less on rationality than parents wish to believe.’428

4.l7 china: geneticists’ views of predictive testing of minors for late-onset disorders429

Postal questionnaires were sent by Mao to 402 Chinese geneticists, eliciting their views on a wide range of ethical issues involved in genetic testing and screening. A total of 255 (63 per cent) geneticists responded.

The geneticists were questioned as to whether parents should be able to have their children tested for late-onset conditions or predisposition to such conditions. The results were: 85 per cent indicated that children should be tested for HD, and susceptibility to cancers upon parental request; 84 per cent thought that children should be tested for familial hypercholesterolemia; 69 per cent considered that they should be tested for predisposition to alcoholism; and 61 per cent indicated that parents should be able to have their children tested for predisposition to Alzheimer’s disease.430

Most geneticists favoured such testing on the basis that parents should be able to make these decisions for their children, and ‘should have the power to direct their children’s lives’.

This cultural division reflects the extension of individual autonomy in developed countries, to include preservation of the autonomy of minors. In China, the child is often seen as part of a collectivity (the family), rather than as a potentially autonomous individual.431

We briefly present some attitudes regarding participation in high school screening programmes because minors’ attitudes in respect of genetic testing can get lost amongst the louder and more powerful voices of the other parties involved in such decisions (various health professionals and parents).

The two most relevant reasons given by the 474 students who chose to undergo testing as part of the TSD screening programme were a desire to know their carrier status, and testing for the purpose of future reproductive decision-making. Other reasons given included: testing was promoted as a good thing do by the Jewish community; the appeal of being tested now and make up one’s mind about getting the results later in life; and it being easier to have the test now rather than later.433

Reasons given by the 236 students who opted not be tested as part of the screening problem included: not wanting to know about carrier status at this point in life; an aversion to needles; believing that one’s risk was low for being a carrier; parents’

refusal; the cost of the test; the fact that parents had been tested and were not carriers; and never wanting to know if one was a carrier.434

The authors note that a significant proportion of the students who refused testing, did so because of a fear of needles (47 per cent). Forty-four of the students who declined testing were asked whether they would be tested if a cheek brush test was offered as an alternative to a blood test; eighteen (41 per cent) indicated that they would agree to be tested in those circumstances.435

Nineteen schools in urban and rural Victoria were approached to participate in a survey seeking to establish the Australian secondary school community’s attitudes towards genetic susceptibility screening in schools, with hereditary haemochromatosis (HH) as the model condition with an available prevention. Eleven schools (58 per cent) agreed to participate. Researchers questioned students in their penultimate year of study (aged fifteen to eighteen years); students’ parents; staff associated with the students; and government representatives and policy-makers for health education.437

Attitudes among the participants as a whole were positive towards genetic testing in schools, and even more positive towards genetic testing generally. Students were significantly more positive about testing after education than before, and were significantly more positive about testing after education, than their parents.438

Both parents and staff indicated that they would like students to be offered a susceptibility test for HH. The most common reasons offered in favour were: early detection and better management of the condition; and giving students an opportunity to gain knowledge about themselves. Of the parents and staff who did not want the students tested, 46.5 per cent indicated that they did not know enough.439

After education, 68 per cent of students, 61.4 per cent of parents, and 61.8 per cent of staff indicated that they would either probably or definitely have a test for genetic susceptibility to HH.440 The majority of both parents and staff suggested that year eleven (average age: sixteen years) was the minimum year level that should be offered such a screening programme, while students indicated that year ten (average age: fifteen years) was the minimum acceptable year level. 441

The interviews with the key informants in health and education policy development revealed a generally positive attitude towards the concept of HH screening in schools, subject to conditions.442

Gason et al. concluded that education and knowledge were major contributors to attitudes about genetic testing.443

4.l9 international: Predictive genetic testing of young people for non-medical reasons444

The survey undertaken by Duncan et al. provides the most recent evidence of professional practice in relation to genetic testing of minors. It is also one of the most geographically broad surveys.

Duncan et al. surveyed 301 respondents from the United States, Canada, the United Kingdom, Australia and New Zealand who were professionally involved in predictive genetic testing. The vast majority (254 or 84.4 per cent) were clinical geneticists.445 They were questioned (via an online questionnaire) as to their involvement and attitudes in relation to predictive genetic testing of pre-symptomatic children for untreatable conditions; and their views on the existing guidelines on the predictive testing of children.

Thirty-six clinicians (12 per cent) had been involved in providing predictive genetic tests to young people for non-medical reasons. There were forty-nine cases of such testing, in relation to fourteen different conditions. ‘This is the largest and most descriptive collection of such case-studies.’446

Twenty-two of the forty-nine cases (45 per cent) in which testing was provided involved ‘immature’ young people (under the age of fourteen years), and the remaining twenty-seven cases (55 per cent) involved ‘mature’ minors (fourteen years and older).

Of the twenty-two cases of testing immature young people, four were prenatal tests. One test was provided to a young person between the ages of ten and fourteen, and the remaining seventeen were performed on children under the age of ten years.

The most common conditions tested for were HD and myotonic dystrophy (four cases each).447 In eighteen of these twenty-two cases (82 per cent) the parents of the child had requested testing, and the respondents did not indicate who had requested the testing in the remaining four cases. Only two of the ‘immature’ young people tested had been informed of their test results. Those two children were nine and ten years old and had both received gene-negative results respectively for spinocerebellar ataxia and fascio scapulo humeral dystrophy.448

The most common reason expressed for providing these tests to ‘immature’ young people was that parents wanted to know: ten clinicians (45 per cent) cited this as a reason. A further three clinicians (14 per cent) indicated that the opportunity for planning was a reason in their providing the test to the child. The test was conducted

prenatally in four of the remaining cases (18 per cent), and there were other or no responses regarding the remaining five tests (23 per cent).449

Of the twenty-two cases reported, eleven (50 per cent) had been followed up, whether by a single telephone call, regular contact for six months or by other means. Follow- up was undertaken by a range of professionals including geneticists, counsellors and psychologists. There were no reports of adverse events for the young person tested, although only two were reported as having been informed of their test results. There were, however, three cases of adverse events for parents of the minors tested: two cases involved parents who elected to continue pregnancy despite prenatal testing revealing the foetus was at increased risk for HD; and another case involved the parents of an eight-year-old child found to be at increased risk for Dystonia. The parents were distressed by the information in all three cases and were anxious about how and when to tell their child. There was also one beneficial effect of testing reported: parents were relieved and the child seemed to have forgotten about the test.450

Of the twenty-seven cases of testing mature young people, the majority (eighteen) involved minors aged sixteen to seventeen years. Nine tests were provided to minors aged fourteen and fifteen years.

The most common condition tested for was HD (fourteen cases). Other conditions tested for included myotonic dystrophy, breast cancer predisposition and spinocerebellar ataxia. In four cases (15 per cent) the young person’s parents requested the testing, and in ten cases (37 per cent) the young person requested testing. In the remaining thirteen cases (48 per cent) the request for testing came from both the young person and their parents. Results were disclosed to all of the mature young people, except for one intellectually disabled fourteen-year-old.

The most common reason articulated for providing these tests was to resolve uncertainty for the young person: thirteen respondents (48 per cent) cited this as a reason. Seven of these requests were made by the young person alone, and six by the young person with his or her parents. A further six respondents (21 per cent) indicated that the opportunity for planning was a reason for their providing the test to the minor. Three of these requests were made by the young person together with his or her parents, two were made by the parents alone, and one by the young person alone. Two clinicians (7 per cent) provided tests (on parental request) because of parental anxiety. A further two (7 per cent) provided the tests for reproductive reasons.

Two-thirds (18/27) of the cases of mature young people who had been tested were followed up, in a variety of ways. Two adverse events were reported: one seventeen- year-old male found to be at increased risk for HD was initially depressed and

rebellious, but eventually accepted the result; and one seventeen-year-old female who was free of the HD mutation felt ‘worry and responsibility for affected mother and untested brothers’.451

There were also nine reported beneficial effects: six following decreased risk results (‘enabled him to focus on school’, ‘negative result really helped to stabilise life’ etc.); and three following increased risk results.452

More than half of the respondents (53 per cent, or 159) had refused to perform a predictive genetic test for non-medical reasons. Together these refusals were made on more than 800 separate occasions.453

The Working Party of the CGS wrote to thirty-five molecular genetic and twenty- three cytogenetic laboratories engaged in clinical diagnostic work, and requested information about the number and nature of tests carried out on children, and whether requests had been denied on ethical grounds.454

Replies were received from sixteen molecular genetic laboratories, of which half were not involved in testing that the CGS would consider ‘potentially problematical.’ However, six of the laboratories regularly tested young children for carrier status for disorders such as cystic fibrosis or sex-linked muscular dystrophy. Two of the laboratories specifically stated that they had a policy not to perform predictive or carrier tests on children.455

Ten of the twenty-three cytogenetic laboratories provided details about their testing of children: most tested samples from several children each year to determine whether they carried hereditary chromosomal rearrangements.456

The Working Party also undertook a questionnaire survey with approximately 3000 health professionals in Britain, seeking information about practice and attitudes in relation to the genetic testing of children.457 The research confirmed that genetic testing of children was ubiquitous, although most testing fell outside the Working Party’s remit (that is, it involved testing for early onset disorders or for conditions for which medical interventions or surveillance could be of some timely benefit).458

Slightly more than a third (184 or 36 per cent) of the 512 respondents had received requests for predictive testing in respect of 902 children. Many of the tests performed were for conditions with childhood onset or for which there were medical interventions available. Many requests for predictive testing were declined or deferred, particularly for neurodegenerative disorders, but also for retinitis pigmentosa,

polycystic kideney disease and FAP. Some requests for predictive testing for myotonic dystrophy, polycystic kidney disease and hypertrophic obstructive cardiomyopathy were accepted and carried out.

A greater proportion of respondents (41 per cent) had received requests for carrier testing of minors. Many of these tests were carried out in respect of disorders such as familial chromosomal rearrangements, Duchenne and Becker dystrophies, cystic fibrosis, the heamoglobinopathies, X-linked visual disorders, fragile X and coagulopathies. Others were declined or deferred; for example, for cystic fibrosis, Duchenne muscular dystrophy and chromosome translocations. Only a very small minority (eighty-five) had an age limit below which they would not carrier test, and those age limits ranged from one to eighteen years. The numbers of children on whom testing was performed or requested was reported as 1706 annually, although this figure was probably only a proportion of the tests carried out.

The report remarked that it was certainly common paediatric practice to carrier test siblings of children affected with a recessive heritable disorder (e.g. cystic fibrosis).459

Due to the difficulty of gathering retrospective data and its potential for unreliability, the Working Party also undertook a twelve-month prospective study of genetic testing in children (under sixteen years), commencing on 1 January 1992.460

Seventeen molecular genetic laboratories supplied data, and the Working Party also circulated clinical geneticists, CGS members and consultant paediatricians. The Report cautions that the limited sampling could only yield indications of the pattern of childhood testing and not an accurate measure of the current activity (and the numbers listed were likely to be under-estimates).461

In 1992 around 165 genetic tests were performed on children, and thirty-seven were deferred. The most common test was for cystic fibrosis carrier status (sixty-eight tests, nine deferred). Around a quarter of the tests (forty-two) were predictive, most of which were for the FAP or myotonic dystrophy mutations, and the remainder were carrier tests. Two requests for predictive HD testing of a five-year-old and fourteen- year-old were deferred. There was no evidence that tests were more commonly performed later in childhood; age distribution appeared to be random and not concentrated in early adolescence.462

The United Kingdom CGS survey results do not indicate how many requests for carrier or predictive tests health professionals had received from competent minors.

A survey questionnaire asking about tests performed on children under the age of fourteen years in 1997–8 was sent to 2040 consultants in paediatrics, genetics and paediatric surgery and 144 genetic nurses and counsellors. A total of 692 completed responses were received. The response rates were 32 per cent for paediatricians; 66 per cent geneticists; 28 per cent surgeons; and 18 per cent nurses and counsellors.463

One hundred and sixty-five respondents had performed tests for late-onset disorders on a total of 955 children. The main reason for testing was medical benefit; the main reason for refusing to test was the child’s right to make his or her own decisions when mature enough.464

Two hundred and eighty-nine professionals had performed a total of 5543 tests for childhood-onset disorders. The most common tests were ordered by professionals who were involved with the heamoglobinopathies or cystic fibrosis. The main reason given for testing was medical benefit.465

One hundred and seventy-eight respondents had tested 3319 children for carrier status for autosomal recessive disorders or chromosomal rearrangements. The main reason reported for testing was parental pressure to test; the main reason given for refusing to test was the loss of the child’s autonomy.466

The maturity of the child, rather than the specific age, was considered more important in terms of when minors could consent to testing. Ten years was the most cited minimum age at which children could actively be involved in the counselling process, and sixteen years for giving consent to predictive testing.467

In response to a paper in the BMJ from Dickenson468 arguing that those under the age of eighteen years should be able to consent to predictive genetic testing Harper et al. wrote in a Letter to the Editor:

... her statement that ‘many clinical genetics units operate a bar at 18’ suggests a lack of familiarity with current practice in clinical genetics and the way it has evolved since genetic testing for adult onset disorders became feasible. ... Such requests from adolescents are rare and would receive full and sensitive discussion on an individual basis, as she recommends. They often turn out to be requests for more general information or for recognition of the issue within the family, but it is unlikely that a request for testing would be ruled out purely on grounds of age.469

Harper et al. argue that Binedell et al.’s paper on adolescent requests for predictive testing470 enjoyed widespread discussion at British and European genetics meetings, and ‘contributed to the evolution of practice and policies from the more rigid original guidelines’.

These guidelines were, as Dickenson states, framed more with young children in mind. Such evolution of practice is important and inevitable in a new discipline. This current, more individualised approach to requests from adolescents requesting genetic tests is reflected in the 1998 recommendations of the United Kingdom health department’s advisory committee on genetic testing (also not referred to). If the author had been in touch more closely with clinical genetics units across Britain she would have found a large measure of agreement with many of the points she makes. She would also have discovered that this topic has been under widespread discussion, with consequent modification of practice for several years.471

Thus, it would appear that in the United Kingdom, when a request comes from a minor, professionals do not rule out genetic testing simply on the basis of age.

In 1996, surveys soliciting information about several aspects of predictive testing for HD were sent to all sixty-five known United States HD predictive testing centres. Of sixty-three responding centres, none reported performing a predictive HD gene test on an asymptomatic juvenile. Twenty centres had been involved with a diagnostic test on a juvenile, including a total of forty-eight juveniles.472

Wertz and Reilly sent survey questionnaires to 186 laboratories. They received replies from 156 laboratories, although only 105 laboratories provided clinical DNA diagnostic services (the others tested for research purposes only). The results refer to the responses from the 105 clinical laboratories that provided clinical genetics services.

Almost all of the labs (92 per cent) had requisition forms that asked the age of the person who was being tested. Just under half (46 per cent) had policies for the testing of minors for late-onset conditions, although the policies varied greatly (33 per cent had policies for carrier testing, and 33 per cent for disorders for which a test offers no medical benefit within three years). Twenty-five labs reported that they did not test unless there was a medical benefit; eleven reported that they decided on a case-by-

case basis; nine reported that they did not test for HD (including five that referred to the guidelines of the ASHG, Institute of Medicine, HD Society of America and the Canadian HD Collaborative); eight reported that they tested at the parents’ request after counselling; and seven reported that they did not test for adult-onset disorders but did test for carrier status, at the parents’ request.474

The data from the labs suggested that most labs had no comprehensive policies, even though 55 per cent had refused to test a minor on at least one occasion – suggesting that many labs were concerned about the possible effects of testing.475

Later-onset disorders: The questionnaire listed thirteen later-onset disorders and asked whether respondents offered tests for those disorders. For twelve of the thirteen disorders, laboratories that offered such tests had received requests to test pre-symptomatic children or adolescents. For eight of the thirteen disorders, the majority of the laboratories that offered a test actually had tested pre-symptomatic children or young people.476

With the exception of those testing for HD, few laboratories reported ever having refused to test on the basis of a patient’s age. The majority of laboratories had tested healthy children under the age of twelve years for eight disorders. For ten of the later-onset conditions there were no reported refusals. Approximately 22 per cent had tested children under the age of twelve years for HD, and 19 per cent had tested children between the ages of twelve and fourteen years. Of those who offered such tests, 44 per cent had refused to test children for HD, 17 per cent had refused to test for familial polyposis coli and 6 per cent had refused to test for myotonic dystrophy.477

Carrier testing: The questionnaire asked respondents whether they had ever been asked to test, and whether they had tested or had refused to test, children for carrier status for fifteen listed autosomal recessive or X-linked disorders. For eleven of the fifteen disorders, the majority of laboratories that offered such tests had received requests to carrier-test children or adolescents. For six of the fifteen disorders (including five that were X-linked), the majority of the laboratories that offered a test had tested girls under the age of twelve years for carrier status. Few laboratories reported ever refusing to test for carrier status on the basis of the patient’s age. There were no reported refusals for ten of the fifteen disorders. However, 5 per cent reported refusing to test for Tay-Sachs disease, fragile X syndrome and cystic fibrosis, and 16 per cent had refused to test for Duchenne muscular dystrophy.478

Approx 45 per cent of laboratories had also occasionally provided tests directly to consumers (rather than through a physician).

Of 1084 United States geneticists surveyed by Wertz, 38 per cent had received requests to test minors for adult-onset disorders (the majority of which were for HD), as had 20 per cent of the 409 primary care physicians who participated in the research. Amongst the 409 primary care physicians, 31 per cent of family practitioners reported requests for genetic testing of minors, compared with 27 per cent of paediatricians, and just 2 per cent of obstetricians.480

Carrier screening programmes for Tay-Sachs disease have been running in high schools in Montreal since the 1970s, and carrier screening programmes for Tay-Sachs disease and other disorders have also been run in Australian high schools (among other places) since the mid 1990s. However, as mentioned, this section focuses on genetic testing of ‘at risk’ individual minors; the incidence of carrier testing of minors via screening programmes is not the focus.481

There is a great deal of evidence indicating that geneticists are more reluctant to test minors, particularly where there are no medical benefits, than are primary and secondary care physicians, parents and the general public. For example, Wertz’s study482 revealed greater consensus amongst geneticists and primary care physicians that minors should be tested for hyper-cholesteroleamia (which can be medically managed), than that they be tested for HD, or predisposition to alcoholism or Alzheimer’s disease.

These results point to a dichotomy between geneticists and the rest of the United States medical community, whose views closely paralleled those of their patients.483

The large surveys conducted by the United Kingdom CGS Working Party also found that geneticists and their co-workers were less likely than paediatricians to consider parental wishes alone a sufficient basis upon which to perform genetic testing of a minor, and that paediatricians were more willing to test minors than geneticists and co-workers (indeed, many paediatricians were willing to test a five-year-old for HD and other prion-protein dementias).484

One notable exception in terms of parental attitudes towards genetic testing of minors was revealed by the research of Hamann et al. The great majority of the participants in their study, all of whom had themselves been tested for a BRCA 1 mutation, thought that children, theirs included, should not be tested for BRCA mutations.485

Large numbers in most of the groups surveyed or interviewed indicated that minors from varying ages, ranging from ten years upwards, should either be told of a genetic risk or test result, or play some part in the decision-making regarding testing. However, while most geneticists (and fewer, but still most, primary care physicians) in Wertz’s study thought that a sixteen-year-old should be able to refuse testing for a late-onset disorder or for a disorder for which there was no effective treatment, the majority of geneticists (and a greater number of paediatricians) considered that sixteen-year-old minors should not be able to refuse testing for a preventable or treatable disorder.487

All of the groups (geneticists, primary and secondary care health professionals, students, parents, patients and members of the public) gave broadly similar reasons regarding the acceptability or otherwise of genetic testing of minors for non-medical reasons. (Although, one unique reason offered against genetic testing by minors themselves was a fear of needles).488 Most of the reasons accord with the points and issues raised in many of the professional position statements and guidelines (and indeed Duncan’s research revealed a great deal of professional agreement with the position statements and guidelines).489 Reasons offered in favour of testing of minors frequently included: parental desire to know; parental autonomy; opportunity for planning; resolve uncertainty for young people; relieve anxiety; and reproductive reasons. Some of the most common arguments given against testing include: protecting the autonomy of the minor; no medical benefit to testing; possibility of testing causing harm; privacy concerns; and concerns about stigmatisation.490

Given that all groups gave similar responses in terms of reasons for and against testing one might wonder at the greater reluctance of geneticists to provide genetic testing of minors. Duncan’s research indicates that there is a great deal of agreement amongst geneticists with the professional guidelines and position statements in respect of genetic testing of minors.491 As outlined above, the most prominent professional position statements take a cautionary approach to genetic testing of minors, and advocate that testing for non-medical reasons can generally be deferred until a minor can make the decision. It is fair to say that, given the nature of their work, geneticists are probably more aware of these position statements, and the reasoning behind

them, than are other health professionals. This might explain in part why they are generally more opposed to genetic testing of minors for non-medical reasons than are other health professionals, although they are still willing to consider cases on their individual merits.492

Wertz suggests that the fact that United Kingdom geneticists had had greater experience with genetic testing requests than their counterparts from other nations may have partly contributed to their greater reluctance to accede to parental requests for testing.493 By analogy, one could surmise that the greater experience of geneticists in general with predictive genetic testing requests in particular (perhaps more so than with carrier or symptomatic testing requests) may partly contribute to their greater reluctance to accede to parental requests for testing.

The caution of the geneticists might well arise from their experiences of the difficulties of dealing with such requests, while most paediatricians will never have been confronted with these issues (at least in the extreme case of testing for HD) in their clinical practice.494

Perhaps other health-care professionals and parental or consumer groups give more weight to the purported psychosocial benefits than do the geneticists who might give greater weight to the lack of clinical benefit, and the potential for psychosocial harms. For example, the United Kingdom CGS Working Party research revealed that more geneticists and fieldworkers than paediatricians considered that genetic testing could damage a minor’s self-esteem.495 The geneticists surveyed by Wertz et al. were also more reluctant to inform minors of genetic test results in respect of late-onset disorders than were primary care physicians. These findings reinforce the argument that geneticists may place greater weight on the potential for psychosocial harm as a result of genetic testing of minors for non-medical reasons.496

Many of the groups studied for their attitudes towards testing appear to be more willing to provide carrier testing of minors than predictive testing.497 There are fewer professional position statements and guidelines on carrier testing than predictive testing,498 but those that exist take a generally prohibitive stance towards carrier testing of young children, as they do towards predictive testing. However, it seems that in practice people have more permissive attitudes in respect of carrier testing (as Hogben and Boddington have argued).499

In some countries geneticists are more willing to test children for non-medical reasons than in others. Wertz’s study reveals that geneticists from southern and eastern Europe, the near east, Latin America and Asia are more willing to test children for non-medical reasons. Wertz’s findings were reinforced by the research conducted in China by Mao.500

The approach of New Zealand geneticists presumably aligns more with geneticists from the United States, the United Kingdom, Australia and the other English- speaking nations, given that many of our geneticists will have trained in those places, and the HGSA guidelines recommend against predictive testing of minors for non- medical reasons. However, given the ethnic diversity of our population, there will of course be groups with different attitudes.

Some clinicians are evidently accepting non-medical justifications for testing, implying that they believe there are benefits other than purely medial benefits associated with having knowledge of future health.501

There is evidence that health professionals involved in genetics, paediatrics, neurology, heamoglobinopathies and other areas of medicine (including general and family practice) are questioned about the possibility of genetic testing of minors with relative frequency.502

There is also evidence that many of these health professionals, and laboratories, are acceding to requests, and performing genetic tests on minors. While most of the tests are undertaken for medical reasons (including symptomatic testing, or testing for disorders for which some degree of prophylaxis or pre-symptomatic medical procedure may be helpful), a significant number of tests have also been performed for non-medical reasons.503

There is evidence that predictive genetic tests have been performed on minors (in the United States and the United Kingdom at the very least) for mutations for HD, myotonic dystrophy (the most common form of adult-onset muscular dystrophy), breast cancer, spinocerebellar ataxia (‘characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements’),504 hypertrophic obstructive cardiomyopathy (excessive thickening of the heart muscle sometimes leading to sudden death),505 FAP and polycystic kidney disease, among others. There is also evidence that carrier testing of minors is even more widespread, for cystic fibrosis, in particular, but also for heamoglobinopathies, X-linked disorders, chromosomal rearrangements and other autosomal recessive disorders.506

Predictive genetic testing and testing for carrier status has been conducted in respect of minors who range in age from zero to seventeen years. Of the forty-five cases (not including the four cases of prenatal testing) of predictive genetic testing of minors reported by Duncan, eighteen (40 per cent) were tests on minors under the age of fourteen years, and twenty-seven (60 per cent) were tests on minors of or over the age of fourteen years.507 The United Kingdom CGS prospective study of genetic testing

of minors in 1992 revealed a seemingly random age distribution among the minors tested, with no concentration of testing in early adolescence.508 The United States laboratories surveyed by Wertz also indicated that they had performed predictive tests for HD on minors both under the age of twelve years (22 per cent), and between the ages of twelve and fourteen years (19 per cent).

Thus genetic testing of minors who cannot give a valid consent appears to be occurring against the recommendations of prominent international and domestic professional position statements, recommendations and guidelines. (In contrast, most of the guidelines are more discretionary in respect of genetic testing of competent minors upon request.)509

In respect of genetic testing undertaken for non-medical reasons, many professionals appear to be testing minors simply on the basis of parental requests and parental desire to know, and to help parents plan around the information (see responses given by clinicians in Duncan’s study).510 More worryingly, perhaps, the United Kingdom Advisory Committee on Genetic Testing (ACGT) found that carrier tests were being performed on minors because of ‘parental pressure’.511

Genetic tests are also performed on the basis of minors’ requests in order to resolve uncertainty for them and to allow them to plan around the information.512

Duncan et al. note that predictive tests on minors appear to be refused more often than they are performed. The main reason given by the professionals surveyed by Duncan and the United Kingdom ACGT for refusing carrier or predictive genetic testing of minors was preserving the minors’ autonomy to make their own testing decisions when older.513

Duncan et al. comment that, despite the majority of respondents in their study agreeing with the existing guidelines on predictive testing of minors, only 15 per cent cited policy as a reason for refusing tests. This indicates that clinicians were making individual clinical judgments, perhaps guided by the guidelines, rather than simply following suggested recommendations.514 However, whilst the reasons given for refusing to test are variable, most of them accord with the themes in many of the professional position statements; for example, protecting autonomy, lack of medical benefit and possible harms.

Refusals to test do not necessarily mean that the family or young person is refused point blank and sent away; it might mean that after discussion or counselling both parties agree that testing is not the best option.515 The New Zealand clinical geneticist spoken to also intimated that families could come around to accepting that testing is not the most appropriate course of action, rather than testing necessarily being refused.516

Duncan et al. expressed concern about the lack of follow-up post-testing, particularly in the light of the limited evidence available on the effects of testing, and called for systematic follow-up after genetic testing of minors.517

Carrier testing and predictive genetic testing of minors is certainly happening, if not frequently in our own country (of which there is a dearth of evidence), then in others, despite the existence of professional guidance against testing of minors too young to give a valid consent. There is no reason to assume that carrier testing or predictive genetic testing of minors will not become more ubiquitous in New Zealand also once awareness, testing capability and resourcing increase, particularly as our genetics health professionals are governed by similar guidelines as professionals in other countries.

There is very little evidence available regarding attitudes towards, and the practice of, predictive or carrier testing of minors in New Zealand. At this time, requests for predictive or carrier testing of minors are very rare.518 Genetic testing of minors currently proceeds on a case-by-case basis. Symptomatic genetic testing is commonly conducted and as discussed is rarely controversial. Testing for conditions for which medical interventions are available in childhood is also considered uncontroversial and warranted.519

There are only six clinical geneticists in New Zealand. One clinical geneticist spoken to indicated that he had only ever received two requests for carrier testing of a child

The clinical geneticist spoken to had not received a request for a test from a competent minor. However, if the test were clinically advisable for whatever reason a competent minor would always be involved in the discussion and testing because he or she would need to give informed consent.520

The NHC commented in its 2003 Report, Molecular Genetic Testing in New Zealand, that children and young people should be involved in such decisions, but that their best interests were ‘the bottom line’ and that testing for untreatable late-onset disorders may not be in their best interests. The NHC generally recommended against genetic testing of minors, except for conditions which had early onset or beneficial medical interventions available in childhood.

Primary care physicians’ views appeared to be closer to the views of parents than did the views of geneticists in the US survey. This was especially true of general questions about patients’ rights to services upon request. Sometimes geneticists’ views seemed to be almost an aberration in medicine, born of a specialty that sees comparatively few patients, spends considerable time on each one, is research- oriented, and places extensive emphasis on patient education.521

The evidence of professional attitudes and practice in respect of genetic testing of minors is important because it shows that testing is occurring and that primary and secondary care health professionals are more willing than are geneticists to test for a wide variety of conditions. This is concerning because of the existing evidence that there are major gaps in the genetics knowledge of non-specialists.

Primary and secondary care health professionals are apparently more willing to accede to parental requests for genetic testing of their children and more willing to provide all kinds of genetic tests, often regardless of whether or not the tests are clinically indicated.

There is evidence that there are knowledge gaps in terms of primary health-care providers’ expertise with medical genetics; this is obviously troublesome if they are to be recommending or acceding to parental requests for genetic tests, and if they are to be involved in genetic counselling.

Genetic testing will enter clinical practice in many forms in the near future, and this prospect poses a great challenge for paediatricians (as well as for all primary health-care providers). Genetics is a language that is unfamiliar to most physicians, given that the last exposure for most was in a first-year medical school class... Furthermore, genetic testing has many facets that make it different from other medical tests that physicians commonly order.522

Wertz’s survey of United States primary care physicians (499) found that, not only did they favour genetic testing more than geneticists, ‘but their knowledge of genetic disorders and the impact of these disorders onpeople’s lives may be woefully inadequate’. Only 58 per cent, for example, knew that HD was inherited in an autosomal dominant fashion; only 22 per cent knew that familial hypercholesterolaemia was autosomal dominant; 19 per cent thought that life expectancy with fragile X was less than twenty years; and 35 per cent thought that people with fragile X could not have children.523

Clarke cautioned that the differences of responses between the professional groups surveyed by the United Kingdom CGS likely reflected the different experiences of the professional groups.

... The importance of the survey result is that the sudden availability of these tests through commercial laboratories might result in children being tested for these conditions because neither the families nor the clinicians involved have ever thought the issues through. It is therefore necessary to promote an awareness of these issues amongst the wider medical world outside clinical genetics.524

Another clinical geneticist (Harper) agreed, suggesting that differences between geneticists’ and other clinicians’ handling of HD testing perhaps reflects the fact that HD is known to be a genetic condition, and that clinical geneticists had seen it as part of their regular practice long before predictive tests were possible. Reflecting on troubling encounters ‘at-risk’ families had experienced with primary care physicians, he comments that ‘the situation will only improve when medical genetics and genetic counselling form an important part of medical education for all medical professionals’.525

Harper suggests that the availability of time may be a major factor in the difference between a genetic testing experience at a clinical genetics service, and an experience with a primary care physician. Communication, interactions and decision-making in the clinical genetics context can be very time-consuming, and can be repeated for years. 526 Harper argues that:

... at present, medical genetics services are structured so as to permit this, but will this continue in the face of pressures of services to become more ‘efficient’ and ‘competitive’? Many primary clinicians at present rightly refer families for specialist genetic counselling because they know they cannot themselves provide this vital time element.527

The HGSA policy, Presymptomatic and Predictive Testing for Genetic Disorders 2005, acknowledges that, while clinical geneticists, genetic counsellors and many other health-care professionals are aware of the impact that such testing could have on individuals and families, ‘New groups of health professionals and potential test users need to become familiar with these tests and the context in which they are used’.

The American Academy of Pediatrics also supports ‘the expansion of educational opportunities in human genetics for medical students, residents, and practicing physicians and the expansion of training programs for genetic professionals.’528

The increased availability of molecular genetic testing, coupled with the relatively small genetics workforce, is expected to result in the need for primary care physicians to become educated about the appropriate integration of such testing into their clinical practice. In particular, because as many as one third of paediatric admissions are children with disorders with a genetic cause, it is anticipated that paediatricians will assume an important role in attaining

access to appropriate testing for their patients and family members. In addition, paediatricians will need to communicate test result information to families and be sensitive to the significant ethical issues ...529

A 2002 Report for the NHC found that ‘currently in New Zealand a significant proportion of genetic tests are ordered by non-geneticsts’. The Report expressed concern that‘lack of knowledge on the part of some non-genetic clinicians may impede the quality of services received by individuals outside specialist genetic services’.531

The NHC survey of GPs in 2003 (discussed earlier) revealed that many GPs had little experience or knowledge of less common genetic conditions and displayed a lack of confidence about when to refer and to whom. Most of the respondents felt that they needed to know more about genetic testing to feel confident to deal with increasing public demand, including knowing when and for what conditions to refer a patient to genetics services, and how to discuss genetic tests and test results with patients.532

Responses indicated that GPs tended to be more likely to refer patients to genetics services than to order genetic tests themselves. However, they were generally positive about getting involved in genetic testing as long as they had adequate resources and support.533

The rarity of the conditions made it particularly difficult for them to keep up with developments in knowledge and treatment of some heritable conditions.534 Some, particularly rural, GPs also found genetics services difficult to access. A smaller number also indicated that costs and waiting time could be a barrier to access to genetics services.535

What is clear though is that a substantial number of New Zealand GPs are not sure how to access genetic advice for their patients and some reported not knowing how to contact Genetics Services in their locality.536

The research with the GPs appears not have considered genetic testing of children in particular. However, one of the articles produced from the findings did note, in the context of considering predictive testing of children for myotonic dystrophy, that ‘predictive testing would not be appropriate until they are at or above the age of consent (16 years in New Zealand)’.537 This implies that the authors, at least, accept that predictive testing (for a generally late-onset untreatable disorder) of minors who cannot give a valid consent is not appropriate in New Zealand. It further implies that minors aged sixteen years or over can consent to predictive testing for an untreatable disorder, as we argue later.

The survey that Cameron et al. undertook also did not question respondents as to attitudes towards testing minors for increased susceptibility to breast cancer. However, they did note that ‘patients place considerable weight on the opinions of their doctors when making decisions about risk assessment procedures’. Thus their testing preferences were likely to be well established at the time of entry into the genetics services.538

Interestingly, their survey results indicated that the GPs and the medical students held less favourable views about genetic testing than did the women’s groups (made up of patients recruited from the waiting rooms of seven clinics, breast cancer survivors and first-degree relatives of breast cancer survivors).540 The medical students were more cautious than the GPs about recommending genetic testing, and about expecting positive outcomes. GPs were more likely to emphasise the benefits of testing than the psychological costs, in their discussions with patients, whereas medical students gave the two topics more equal treatment.541

Given their area of expertise and experience, paediatricians would be expected to know more than GPs and other groups of health professionals about genetics, genetic testing and genetics services in New Zealand. They would be expected to know more readily when and how to refer minors for genetic testing, as experts and also because they may be generally less isolated than some colleagues, based as they are within hospitals.

However, it is unclear to what degree pediatricians in New Zealand are aware of the HGSA policies (and the wider guidance and discourse) recommending against genetic testing of minors who cannot give a valid consent where there are no beneficial medical interventions available.

... the provision of genetic testing services in pediatric practice requires that the pediatrician either spend considerable time with the family to explore these complex issue and to assist them in comingtotermswith the proper course of action that will fulfil their specific needs, or refer the family to a genetics professional for counseling. In either case, recognition of the ethical issue is necessary to ensure appropriate clinical management of the testing process.542

The evidence and issues outlined raise significant concerns regarding the appropriate handling of genetic testing requests for minors, whether on behalf of those who cannot give a valid consent, or by competent minors themselves.

The lack of knowledge amongst New Zealand GPs of genetics and of avenues for seeking further advice on genetic testing obviously has implications for the appropriateness of the ordering of genetic tests, and for informed consent processes.543 The NHC report emphasised the need for GPs to discuss more complex genetic testing (particularly predictive and susceptibility testing) with, or to refer to, a genetics specialist or service, because of their lack of experience and specialist knowledge of genetics.544 This is particularly important in the case of genetic testing requests for minors, given the special care required during the informed consent process.

The results of the research undertaken with New Zealand GPs are of particular concern in the light of the international evidence revealing greater willingness on the part of primary care health-care professionals to provide predictive genetic tests and carrier tests for minors. Without further investigation and evidence it is difficult to gauge whether our primary health-care professionals would be equally enthusiastic about genetic testing of minors. However, there is evidence that GPs are more likely to emphasise the benefits of susceptibility testing for BRCA mutations than the possible psychological harms.545 There is also evidence that New Zealand’s GPs are generally positive about getting involved in genetic testing decisions, if they are well resourced to do so.546

More positively, the GPs surveyed appear to recognise their own limitations in terms of understanding clinical genetics, and currently seem to be more likely to refer patients to a genetics service than to order genetic tests themselves.

It is vital that GPs and other health professionals know more about genetic testing and genetics services in New Zealand, so that they can better facilitate informed consent; recognise and acknowledge any limitations in their expertise, particularly as they will influence their patients when they discuss testing possibilities;547 know when to refer patients for genetic testing; and offer some degree of genetic counselling, if required.

A lack of genetic expertise and counselling is also of concern for competent minors seeking genetic tests because one of the important benefits of genetic testing upon a minor’s request is the chance for interaction with a knowledgeable health professional, rather than having to rely upon genetic information given by family members.548

Whilst there is some professional guidance on genetic testing of minors from the HGSA, and laboratory protocols on predictive testing generally, these do not appear to be well publicised or formalised. Pathologists involved in genetic testing would be aware of the HGSA guidance on genetic testing of minors.549 The oversight of genetic testing requests provides a useful filter for weeding out inappropriate testing of minors (and others); however, the ad hoc basis upon which it is currently organised does not promote accountability. The lack of a more formal structure and process for genetic testing requests also means that GPs and other health professionals may be making inappropriate requests for testing that are (rightly) not actioned by pathologists, resulting in a waste of time and resources, and increased expectations and stress for at-risk families and children.

the next section of this report examines in detail the purported benefits and harms of genetic testing of minors, before examining how genetic testing decisions fit within the current legal framework for medical decision-making for children, and whether any differences are legally salient and require a different regulatory response.

New Zealand Law Foundation Research Reports

Human Genome Research Project --- "Genes, society and the future: volume II" [2007] NZLFRRp 4