The PHG Foundation’s latest report sets out a strategy for the UK National Health Services to make the most of new and emerging opportunities for better care thanks to whole genome sequencing (WGS) technologies.
 
Next steps in the sequence: the implications of whole genome sequencing for health in the UK is the first comprehensive overview of the impending medical impact of human genome sequencing. It reviews the relevant technologies, identifies the areas of medicine where genomics is having the most immediate impact – notably in diagnosis and management of inherited forms of disease and cancer  - outlines the barriers to prompt and effective implementation within the NHS and makes recommendations for action to tackle these issues.
 
Key strategic challenges identified include the need for new biomedical informatics expertise, clinical databases and improved understanding of genomic data interpretation within the NHS.
 
The report also notes that these transformative technologies do not raise any fundamentally new ethical issues, but recommends that for the time being only targeted forms of genome analysis that minimise unexpected (incidental) findings are used, and that patients should be told only about medically important information.
 
James Peach, Director of Stratified Medicine at Cancer Research UK commented: “We’re only scratching the surface of what WGS technology can do for us…but there are problems about using it in the NHS, and the biggest problem is that we don’t know what to do with it”.
 
Sir John Bell, Regius Professor of Medicine at the University of Oxford and chair of HGSG, said that WGS technologies would have “a very substantial impact on human disease”, adding that the new report “takes you to the heart of all the issues”.
 
Dr Ron Zimmern, Chairman of the PHG Foundation, which celebrates its fifteenth anniversary next year, said that the big challenge for public health was no longer how to understand genomics from a public health perspective, but rather “how to practice public health in the genomics context”, noting that the recommendations of the new report showed that genomics was now “the responsibility not so much of individual clinicians, but of the health system as a whole”.

Summary and full versions of the report are available from the PHG Foundation website

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