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A new era for healthcare


Congratulations to Genomics England, Illumina, Wellcome Trust, Sanger Institute, MRC, NHS England: the launch of a new era for healthcare.

In 1997, when we first set up the PHG Foundation there was much talk of the genetics ‘tsunami’ – a tidal wave that would sweep all before it. We argued then that it was more like the tide coming in – a slow rise of water that would gradually fill the harbour. With the announcements today of the huge investments to be made through the 100,000 Genomes Project, it feels as if the boats are now bobbing in the harbour and the fleet is ready to set out. And what an adventure that will be.

More than anything else, the 100,000 Genomes Project represents a collective vision for what genomics can achieve for health, for science and for UK enterprise. That vision is also the culmination of a wide set of principles and activities that were articulated in our Report undertaken jointly with the Nuffield Trust and published in 2000: a supportive regulatory framework; programmes to promote genetic literacy of the public and education of health professionals; establishing a set of principles in respect of medical and genetic data to cover clinical and research activity; importance of health economics in assessing the impact of genetic science on health services; support for the biotechnology industry and encouraging partnerships between industry and academe; investment in science infrastructure; and major support to develop genetic testing in the NHS, clinical genetics as a specialist service and development of physicians in every area of medicine to take advantage of genomics.

Since that time PHG Foundation has worked in every one of these areas, helping to get the UK to this important landmark point. And we are poised to continue. With almost 30 creative staff and experienced associates we are working on issues as diverse as ethics of using and sharing genomic information, introduction of pathogen genomics to NHS, health economics of clinical exome sequencing, developing genomics education in medical specialties through a project with the Royal College of Physicians, genetic screening and cell free fetal DNA for Down’s syndrome testing. We continue to contribute through our involvement in national policy work with Genomics England, HEE, NICE, UKGTN, JCGM and many other groups.

So, today is a day for celebration but it’s also the beginning of the next phase: a phase where England commits to bringing genomics into everyday clinical practice. There will be three vital strands to making this happen:

  • The health community needs to put serious resources into learning how to use these new tests effectively and introducing them equitably to all areas and not just around centres of excellence.
  • Health professionals, patients and the public must understand and accept that sharing data is vital if we are to continue to gain new knowledge for clinical use. Whole genome sequencing may provide an answer to some patients now (like the parent of the child with developmental delay) , but collecting and using clinical data over time will vastly increase that number. 
  • And finally, we need to bring this knowledge from the life sciences together with the astonishing new capabilities in information systems, sensors and biomarkers, smart technologies and mobile connectivity to help develop a whole life, multi-system approach to keeping people healthy and reducing the impact of disease and disability.

Here at the PHG Foundation we will be shifting our focus to work on these next big challenges, helping to prepare healthcare systems for the new era. As an associate member of Cambridge University Health Partners we are well placed to work on this with colleagues and organisations in the Cambridge cluster, nationally and around the world.

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