Preconception genetic screening: where next?

Abstract

Preconception genetic testing and counselling can form an important component of care for individuals or couples at increased risk of inherited diseases, allowing prospective parents to make informed choices. At present, only people with a known genetic risk routinely have such tests in the UK. But a report by the UK Human Genetics Commission—Increasing options, informing choice—published on April 6 suggests that the time might have come for genetic testing to take a leap forward and, through screening programmes, be made available to everyone. The headline of the report, which was done at the request of the UK National Screening Committee (UKNSC), states that there are “no specific social, ethical or legal principles that would make preconception genetic testing within the framework of a population screening programme unacceptable”. The report advises that children and young people be educated about screening in their final years of compulsory education, but not be pressured into taking a test if programmes are set up. Any recommendations of whole-population screening will undoubtedly raise concerns about eugenics, stigmatisation of people with genetic diseases, and discrimination against young people identified as carriers—all of which are acknowledged in the report. But many of these ethical issues also apply to antenatal screening. Use of genetic testing is on the rise, with a 2010 report on birth defects by WHO's Secretariat recommending initiation of population-screening programmes. An example of such an approach is from Cyprus, where, as a result of the health and financial burden placed on people by thalassaemia, individuals wishing to marry have to provide evidence of screening before a marriage licence can be issued. And countries such as Iran and Taiwan have followed suit with similar programmes for this disorder. The UKNSC will consider the findings of the latest report before deciding whether to implement nationwide screening programmes. Ultimately everyone should have the choice of preconception screening, but a fine balance must be met between the benefits of genetic technology and an individual's autonomy.