January 25, 2012

expert reaction to report from the Human Genomics Strategy Group

Report from the Human Genomics Strategy Group (HGSG)into how healthcare in the UK can benefit from genomic technology.

Dr Berwyn Clarke, Chief Scientific & Development Officer, Lab21, said:

“This is an excellent set of proposals but it does fall short in some respects. The involvement of the private sector does not seem to be very clearly outlined. Importantly, the report does not recognise the quality standards that are required for clinical diagnostics and the ignorance of these standards within the NHS. I feel that the quality of science and technology within the NHS is not as good as this report implies, due to a lack of investment resources and appropriate skills.

“It is also unfortunate that there are no plans for broader introduction of neonatal genetic screening for key biomarkers. They system for diagnostics assessment needs to simplified to a much greater degree, and it will be essential to develop a co-ordinated interface between electronic medical records and genetic databases.”

Dr Stuart Hogarth, Research Fellow in the Global Biopolitics Research Group, King’s College London, said:

“In its vision statement (chapter one) this report grossly exaggerates the current utility of testing for risk of common, complex diseases. For the most part, at the moment we can do no more than tell people that they are at slightly higher than average risk or slightly lower than average risk; information which makes no difference to the kind of disease prevention strategies we should all be following (healthy diet, moderate alcohol intake, regular exercise etc.)

“The report describes genomic medicine as a “major step-change in medical practice”, but the reality is that most diagnostic innovation is incremental and additive, not revolutionary. The example of HPV testing in cervical cancer screening (cited in chapter three) perfectly illustrates that point: in the USA it has not replaced cytology-based screening, it is used as an additional screen or to investigate borderline cytology results (incidentally, HPV testing is presented as a recent advance but it has been a standard of care in the USA for over a decade).

“The various ethical, legal and social dimensions of genomic medicine have been reduced to the single issue of informed consent – there is no discussion of other important topics such as the impact of gene patenting on innovation and the inadequacies of the current regulatory framework for diagnostics. Why for instance, does the Health and Social Care Act give an exemption to commercial laboratories performing genetic testing (see Schedule One, Regulated Activities, subsection Eight Diagnostic and Screening Procedures)?”

Sir Mark Walport, Director of the Wellcome Trust, said:

“Our advancing ability to read and understand the genetic code is already beginning to spark transformative improvements in healthcare, by refining diagnosis and revealing the processes of disease. The Government must act now to deliver Sir John Bell’s excellent recommendations, so that the NHS builds the capabilities and skills it needs if patients are to benefit.

“We particularly support the proposal to link genomic data to patients’ anonymised medical records through a secure national centre, which would create an unparalleled resource for research and diagnosis without compromising confidentiality or privacy. It is also important to develop medical informatics services that can make sense of complex genomic data, and to update professional training to meet the challenges of the genomic age.

“We are committed to working with the Government to address these challenges, building on the world-class genomics and bioinformatics expertise available in the UK at the Wellcome Trust Sanger Institute and the European Bioinformatics Institute.”

Professor Mike Stratton, Director of the Wellcome Trust Sanger Institute, said:

“The Wellcome Trust Sanger Institute welcomes the strategic vision set out in this report for the mainstream adoption of genomic technologies in the health service. Since sequencing one third of the human genome in 2000, the Institute has driven ever more rapid discovery of the links between genetics and human disease and believes the time is right to implement systems within the NHS to deliver the benefits now emerging.

“To harness the power of genomes for healthcare we need to enact the recommendations of clear policies for adoption, improved training, better mechanisms for delivery and – underpinning all – investment in systems to interpret the massive sets of data and make them valuable for the clinician.

“We believe there are huge opportunities for the UK to be a world leader in applying genomic technologies. However, exploiting the UK’s existing lead requires rapid action by Government. We look forward to being closely involved in these developments.”

Dr Hilary Burton, Director of the PHG Foundation and a member of the HGSG, said:

“With a whole chapter dealing with public health, the report recognises that genomics can deliver health benefits for the population as a whole, and not just within highly technical clinical practice.”

Sarah Norcross, Director of the UK assisted conception/genetics charity the Progress Educational Trust, said:

“As a charity responsible for conducting much of the public engagement work in this area with no core funding from the Department of Health, we welcome the Report’s recommendation that the government should ensure the continued provision of high quality public engagement.”

‘Building on our inheritance: Genomic technology in healthcare’ was released on 25th January 2012.