Maximising the benefits and minimizing the risks associated with pre-natal genetic testing

Research output: Contribution to JournalArticlepeer-review


With over 500 prenatal genetic tests currently available, and many more entering the consumer medical market each year, prenatal genetic testing is rapidly becoming routine practice in the medical management of pregnancy. The greatest benefits gained from prenatal genetic testing are the prevention of the birth of a child with a chronic genetic disease and offering prospective parents a degree of liberation from reproductive risk. These benefits are, however, tempered by a series of complex ethical, legal and social risks, which must be identified and managed if the benefits are to be maximized. The aim of this paper is to investigate how a group of experts in human genetics perceive the origin and impact of these risks. Based on a qualitative analysis of semi-structured interviews with experts in the new genetics, seven risks are identified. These include: the risk of state intervention into private lives and the consequent loss in reproductive freedom; the risk of coercive testing emerging from medical paternalism; the risk of ambivalence in knowing whether prenatal testing should be offered for all conditions, or only for severe medical conditions; the risk prenatal testing will amplify existing racial, sexual and disability discrimination; the risk prospective parents will develop inflated expectations of genetic perfectionism; the risk of inequalities in access to genetics counselling and testing services; and the risk of fostering an increase in wrongful birth and wrongful life litigation. The findings of this study have implications for enhancing genetic risk-management policies and for improving the delivery of genetic testing services. They also have implications for advancing our understanding of the relationship between genetic health, genetic risk and society.
Original languageEnglish
Pages (from-to)67-81
Number of pages15
JournalHealth, Risk and Society
Issue number1
Publication statusPublished - 1 Mar 2007


  • Genetic discrimination
  • Genetic responsibility
  • Prenatal genetic testing
  • Reproductive freedom
  • Reproductive risk


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