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Whole-genome association studies for multigenic diseases: ethical dilemmas arising from commercialization—the case of genetic testing for autism
  1. Bertrand R Jordan1,
  2. Daniel Fu Chang Tsai2
  1. 1Marseille-Nice Génopole, Marseille, France
  2. 2National Taiwan University College of Medicine, and National Taiwan University Hospital, Taipei, Taiwan
  1. Correspondence to Dr Daniel Fu Change Tsai, National Taiwan University College of Medicine and National Taiwan University Hospital, No. 1, Section 1, Jen-Ai Rd, Taipei City, 100, Taiwan; fctsai{at}


This paper examines some ethical issues arising from whole-genome association studies for multigenic diseases, focusing on the case of autism. Events occurring following the announcement of a genetic test for autism in France (2005–2009) are described to exemplify the ethical controversies that can arise when genetic testing for autism is applied prematurely and inappropriately promoted by biotech companies. The authors argue that genetic tests assessing one or a few genes involved in highly multigenic disorders can only be useful if: (1) the genetic linkage found in the scientific study must be statistically convincing, reproducible and also applicable to the population to which the individual considered belongs (scientific validity); (2) the relative risk conferred by the ‘high-risk’ allele should be high enough to be significant to the patient (significant impact); (3) use of the test should lead to some improvement of outcome for the patient, resulting from adapted treatment if available, or at least from adjustment of lifestyle (or life goals) prompted by the new knowledge generated (clinical utility). Decisions concerning genetic testing for autism involve scientific judgement, value judgement and good knowledge of a constantly evolving therapeutic environment. The implementation of genetic tests for highly multigenic diseases thus requires strong mechanisms to ensure that they are used in a fashion that can benefit patients, and these mechanisms must be able to cope with rapid progress in scientific knowledge and therapeutic intervention.

  • Autism
  • commercialisation
  • genetic testing
  • genetic ethics
  • whole-genome association study
  • scientific research
  • behavioural genetics
  • genetic counselling/prenatal diagnosis

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  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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