The UK's Human Genetics Commission (HGC) and National Screening Committee (NSC) have published a joint report on the potential testing of newborn babies to detect genetic variations with health implications. The document, entitled 'Profiling the newborn', concludes that routine newborn genetic profiling is not likely to be affordable for at least another 20 years. It also cautions that newborn profiling raises important social, legal and ethical issues, which need to be addressed before such a scheme is launched.
The government asked the HGC and NSC to consider newborn profiling in its Genetics White Paper: 'Our inheritance, our future - realising the potential of genetics in the NHS', published in June 2003. The resulting joint working group's report concludes that while some newborn genetic profiling is already possible, it cannot be launched as a national screening programme 'in the near future'. However, it points out that such tests are likely to become commercially available in less than 20 years.
Advances in genetic technology mean that scientists can now look at many different genetic variations at once, using DNA microarrays, or 'chips'. Given the rapidly increasing knowledge about genetic differences that affect a person's risk of developing common diseases, such tests could one day be used to screen newborn babies for a wide range of potential health problems. Last year, the US National Institutes of Health (NIH) invited research proposals to find ways of producing a '$1000 genome' - a way of looking at someone's entire genetic make-up in one test - by 2014. It also sought to fund interim research to develop a '$100,000 genome', which is thought to be achievable within five years.
The new HGC/NSC report identifies 'a pressing need' for further research into the costs and potential benefits of newborn genetic profiling from a public health point of view, and says the topic should be considered again in five years. The potential benefits of genetic profiling include the identification of DNA variations that affect reactions to certain medicines, or the risk of conditions such as heart disease - information that could eventually lead to 'personalised healthcare'. But the report also identifies potential concerns with this approach, such as discrimination in areas such as employment, insurance and education. It concludes that before population genetic profiling is considered, 'steps would need to be taken to preclude any misuse of information derived from it'.
Helen Wallace, deputy director of pressure group GeneWatch UK, welcomed the recommendations. 'The government's proposal was always bad for health', she said, adding 'genes are poor predictors of most illnesses, so most children would get misleading information about their genetic risk'. Health Minister Lord Warner praised the report, saying that 'it covers many complex issues we will need time to consider carefully'. The document is available to download from the HGC's website.