THE GENETIC TESTING OF CHILDREN

Report of a Working Party of the Clinical Genetics Society

Chaired by Dr Angus Clarke, Senior Lecturer in Medical Genetics, Cardiff

March 1994

The conclusions and recommendations are given here. The full report (available in Word format by email request) also contains chapters on:

1. Opportunities for genetic testing
2. Ethical concerns raised by genetic testing of children
3. Working Party Aims
4. Current Practice and attitudes in Britain: a questionnaire survey
5. Current Practice and attitudes in Britain: a prospective study
6. Attitudes of family and patient support groups
7. Legal considerations
8. Issues relating to adoption

CONCLUSIONS AND RECOMMENDATIONS

1. The predictive genetic testing of children is clearly appropriate where onset of the condition regularly occurs in childhood or there are useful medical interventions that can be offered (eg diet, medication, surveillance for complications).
   
2. In contrast, the working party believes that predictive testing for an adult-onset disorder should generally not be undertaken if the child is healthy and there are no medical interventions established as useful that can be offered in the event of a positive test result. We would generally advise against such testing, unless there are clear cut and unusual arguments in favour. This does not entail our recommending that families should avoid discussing the issues with younger children, but rather that formal genetic testing should generally wait until the "children" request such tests for themselves, as autonomous adults. This respect for autonomy and confidentiality would entail the deferral of testing until the individual is either adult, or is able to appreciate not only the genetic facts of the matter but also the emotional and social consequences of the various possible test results.
   
   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.
   
3. For some disorders, there is insufficient evidence to know whether a diagnosis in childhood is helpful in the medical management of the possibly (not yet) affected child. Research in these areas will be worthwhile and important. When such research is planned, however, it will be important to incorporate a social and psychological evaluation of the genetic testing, as well as a technical and more strictly medical evaluation, because the results of the psychosocial evaluation may be critical in future clinical judgements if the medical benefits remain uncertain or are shown to be minor. Furthermore, the psychosocial study of testing for these conditions, where the existence of possible medical benefits justifies the study of the testing, may throw light upon the likely psychosocial effects of testing for other disorders; hence such studies may be of more general applicability.
   
4. The situation with regard to testing children for their carrier status for recessive disorders and balanced, familial chromosomal rearrangements is more complex. In general, the working party would make a presumption against testing children to determine their carrier status, where this would be of purely reproductive significance to the child in the future.

   (a) Circumstances may arise, however, in which the genetic testing of children could be helpful in the provision of accurate information to other family members. Even in families with apparently balanced chromosomal translocations, however, we think that this occurs only occasionally. It is important that children in such families are not tested "as a routine", but that each situation is considered on its merits so that children are tested only when the results will contribute to the counselling of other family members. Otherwise, if the results would only be of future reproductive concern to the child, then it is wiser to defer the testing until the child is able to understand the issues and requests testing in person.
   
   (b) Where such (carrier) testing is, or has been, taking place, it would be useful to institute prospective and retrospective psychosocial evaluations of the impact of the testing on the children and their families, so that future policy can be guided by evidence rather than conjecture and anecdote.
   
   (c) If the testing is not to be performed in childhood, then a certain obligation rests upon the health care system and the family together to ensure that testing is offered when the child is older. While testing in childhood may allow parents and physicians to feel that they have done their duty, this may still leave both parties with an obligation to ensure that the tested child is offered counselling (and possibly an updated genetic test too) when he or she "comes of age".
   

5. There are additional factors to be considered with a healthy but "at-risk" child referred for adoption, in so far as the results of the testing might influence decisions made on behalf of the child. However, it should not be assumed that genetic (predictive or carrier) testing will be required before a suitable placement can be achieved. In each case, we would advise discussion between the medical adviser to the adoption agency and a clinical geneticist. The important factors other than the possible laboratory test results need to be identified for future attention in advance of any test being performed.
   
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 should work 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. The ability of the working party to arrive at such a consensus, despite our initially holding different views, suggests that this may be a realistic goal. 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.