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The Human Genetics Commission has published its response to the Department of Health’s three-year review of the Genetics White Paper. The HGC’s response commends the original objectives of the White Paper, which outlined the Government’s vision for developing genetic services and for integrating genetics into healthcare more generally- a vision that was to be supported by ring-fenced funding.

The HGC highlights the positive impact of the White Paper in developments such as the establishment of the National Genetics Education and Development Centre, and it lists areas of its own work that have been complementary to the aims set out in the White Paper. It also flags up issues that may need particular attention in the future, including the regulation of direct-to-consumer genetic testing, the need to communicate more effectively with the public about large-scale research projects such as Biobank, ensuring equity of provision of genetic services in the NHS, the implications of the National Programme for IT (Connecting for Health) for genetic information, the impact of intellectual property and patenting in genetics, and the future development of antenatal screening programmes.

The HGC’s response also sounds a note of serious concern that the benefits gained from the initial investment in the White Paper programme may be lost through uncertainty about future funding. It questions the rationale for a review after only three years, given the time it takes to develop high-quality projects to the point where results can be evaluated, and expresses concern about “a real possibility that developments would not be sustainable and would dissipate in the next financial year”.

An issue singled out for particular attention is the lack of a “clear mechanism for translating genetic (or indeed any technological) advances from the research laboratory into healthcare practice” and the fact that, as a result “this transfer is not strategic, is slow and is an ad hoc process”. The development process that is an essential part of the transition from research to service, says the Commission, “is not currently addressed by existing funding streams”.

Comment: The need for a coherent process to bridge the gap between research and healthcare implementation is also highlighted in the PHGU’s response to the White Paper review, and indeed is the rationale that underlies the approach of public health genetics. Public health genetics is defined as “the responsible and effective translation of genome-based knowledge and technologies for the benefit of population health”. It proceeds by integrating knowledge from basic research in genomics (both scientific and in the arts and humanities) and using this integrated knowledge base to underpin four core sets of activities: informing public policy, developing health care services, education and training, and stakeholder engagement. If sustained funding is not made available for these initiatives, the promised benefits of genomics for health care may indeed not be fully realised.