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Letters

Predictive genetic testing in children

Fiona H Richards, Roslyn J Tassicker, Jennifer G R Kromberg and Barbara M Singaram
MJA 2002; 176 (10): 507

To the Editor: We are writing to express concern about the article by Savulescu in the 1 October 2001 issue of the Journal.1 As social workers with extensive experience in the area of predictive testing for Huntington disease (HD), we wish to make the following points:

  • The author fails to mention that specialist multidisciplinary teams with training and experience in all aspects of predictive testing (and associated ethical issues) are based in genetics services in every Australian State. Experienced counsellors in these teams can explore the subtle psychological processes that may underlie a parent's request for predictive testing of their child. For example, in the hypothetical clinical encounter depicted by the author, "Mrs Smith" may feel guilty that her children are at risk, and might be motivated by a desire to know that her children have not inherited the HD mutation from her.

  • Through our work with adults who undertake predictive testing, we are acutely aware of the complex and subtle adverse psychological effects on the individual and on family relationships that often follow such testing. These effects are likely to be even more evident in families in which children's risk for an untreatable, adult-onset disease is known.

  • The child's right to autonomy in making his or her own decision about testing for such conditions, when he or she reaches the age of 18, is supported in a number of guidelines, including the international guidelines for predictive testing in Huntington disease.2 These guidelines were formulated by experienced professionals and representatives of HD families worldwide — their wisdom in this matter should not be ignored.

  • In our experience, basing a decision about predictive testing for a minor on an assessment of the child's competence (not the same as intelligence) does not take into account other important factors, such as the level of insight and maturity to make a life decision that has such potentially far-reaching implications.

  • The author misrepresents research on suicide and predictive testing (in the survey by Almqvist et al,3 the five people who suicided had not only tested positive but were also symptomatic), and refers to an article that was based on small numbers of people who underwent linkage testing.4 There is much more recent and reliable published research that highlights the complexities of reactions to predictive test results.5

  1. Savulescu J. Predictive genetic testing in children. Med J Aust 2001; 175: 379-381. <eMJA full text> <PubMed>
  2. International Huntington Association and World Federation of Neurology Research Group on Huntington's Disease. Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet 1994; 31: 555-559. <PubMed>
  3. Almqvist E, Bloch M, Brinkman R, et al. A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. Am J Hum Genet 1999; 64: 1293-1304. <PubMed>
  4. Wiggins S, Whyte P, Huggins M, et al. The psychological consequences of predictive testing for Huntington's disease. N Engl J Med 1992; 327: 1401-1405. <PubMed>
  5. DudokdeWit A, Tibben A, Duivenvoorden H, et al. Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? J Med Genet 1998; 35: 745-754. <PubMed>

(Received 2 Nov 2001, accepted 11 Apr 2002)

Predictive Testing Program, Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.

Fiona H Richards, MSW, Senior Social Worker.

Huntington Disease Predictive Testing Services, Genetic Health Services Victoria, Melbourne, VIC, Australia.

Roslyn J Tassicker, MSW, Predictive Testing Counsellor.

Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, QLD, Australia.

Jennifer G R Kromberg, PhD, Principal Genetic Counsellor.

South Australian Huntington's Disease Service, Flinders Medical Centre, Bedford Park, SA, Australia.

Barbara M Singaram, BA(SocSc), BSocAdmin, Coordinator/Senior Social Worker.

Correspondence: Ms Fiona H Richards, Predictive Testing Program, Department of Clinical Genetics, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.

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