12 February 2009
The use of fetal nucleic acids (primarily DNA at present, but also RNA) from a sample of maternal blood taken early in pregnancy is an exciting new technique with potential to improve various forms of antenatal testing by allowing earlier diagnosis without the risk associated with current invasive techniques. A new report from the PHG Foundation in Cambridge, Cell-free fetal nucleic acids for non-invasive prenatal diagnosis, sets out the findings of a UK Working Group of technical experts, National Health Service (NHS) providers and wider stakeholders for the Joint Committee on Medical Genetics (JCMG) of the Royal College of Physicians.
Funded and led by the PHG Foundation, this group was convened to assess the prospects for this technique in the UK and implications for the NHS. Bodies represented include the Royal College of Obstetricians and Gynaecologists, the Royal College of Midwives, the British Maternal & Fetal Medicine Society, the UK National Screening Committee, the Human Genetics Commission and the Genetic Interest Group and Antenatal Results and Choices charities, as well as expert scientists and clinicians, NHS managers and policy makers, and experts in law and ethics. Conclusions and recommendations include:
JCMG chair Professor Trevor Cole commented: "The PHG Foundation has led a large multidisciplinary expert group to produce this timely appraisal of non-invasive prenatal diagnosis. The report provides an authoritative account of the technologies and their current and possible future uses in clinical care and sets out clearly the many issues that will need to be addressed. Organisations and individuals with an interest in this area should use it as a valuable source of information about the technology and its wider implications, and as a starting point for further work” (see press release), adding that the “excitement and opportunities of technology…need to be balanced against the necessity of properly validated techniques, effective and patient centred clinical services and responsible actions of society".