Genomics and the prevention revolution

Published on the last day of Theresa May’s premiership, the Government’s strategy for prevention into the 2020s includes ambitious proposals to harness the power of genomics to predict and help prevent future disease – potentially helping millions of people live longer and healthier lives. The Chief Scientific Officer for England and the senior responsible officer for Genomics in NHS England looks at the proposals in more detail and previews Expo 2019:

The Department of Health and Social Care launched a public consultation last month – Advancing our Health: Prevention in the 2020s – setting out its aspirations that the 2020s will be the decade of proactive, predictive and personalised prevention.

The paper highlighted the important role that genomics can play in this – not just in terms of faster and more accurate diagnosis and more personalised treatments – but also in predicting and potentially preventing disease occurring in the first place.

We are already starting to see how this might happen. For example, genomics can help us identify people with a genetic condition called familial hypercholesterolaemia (FH) which can lead to extremely high cholesterol levels and a greater risk of developing cardiovascular disease such as heart attack and stroke. This means preventative actions including treatment with statins can be taken to lower the risk.

But the Green Paper takes this ambition further, setting out how, over the next five years, as part of the industrial strategy challenge fund, up to five million people will received free personalised health reports based on their DNA to predict which conditions they are most likely to develop before symptoms appear. This could allow individuals who are otherwise healthy and don’t have a known health condition to make lifestyle changes that could help prevent disease or reduce its impact.

Of course, there are many technical, ethical and other issues that need to be considered to fully understand the impact of this. For example not everyone will want to know if they are at higher risk of developing conditions such as cancer, diabetes or heart disease.

It’s important that the information people and their health care professionals receive is clinically useful – they must be able to do something to lower the risk and to be sure that the risk is real.

We also need to make sure the NHS and particularly primary care, has the capacity and capability to deal with the increased numbers of follow on tests and GP appointments that could result from so many people receiving this information.

If we can manage these short-term challenges, then the long-term benefits are potentially huge. The fact that we can now use genomics to predict the likelihood of someone getting a disease and to empower them to make lifestyle changes or treatment decisions that will keep them healthier for longer shows just how far genomics has come in the last few years. It may also help, in the longer term, to reduce the pressure on NHS and social care services as more people are encouraged and enabled to take control of their health – helping support a key aim of the NHS Long Term Plan.

Later this week, members of the Genomics Unit at NHS England will be at NHS Expo in Manchester. We will be showcasing the progress made so far by the NHS and its partners as we build on the success of the 100,000 Genomes Project and move towards embedding genomic medicine across the NHS as part of the NHS Genomic Medicine Service.

This includes the work done so far to –

  • set up a national genomic testing network of seven Genomic Laboratory Hubs working together across England to introduce whole genome sequencing into routine care;
  • mandate the use of a national genomics test directory to ensure equity of access to all types of genomic testing across the country;
  • show how genomics can help us personalise and target treatments and interventions
  • develop, with Health Education England, a genomics education programme to help ensure the NHS workforce is ready for these changes.

If you are at Expo, do come and meet the team. At our genomics and personalised medicine feature zone (stand 325) we will be hosting several mini theatre sessions over the two days. Come and hear more about the work being done by the West Midlands FH service. Hear about examples from nursing and midwifery of embedding genomics into clinical pathway. And hear about how clinical research in genomics is now being embedded into routing care.

We are also holding a main stage session on Thursday 5 September at 10.45am for a discussion and debate on delivering the genomic revolution with speakers from The Christie, Roche and participants in the 100,000 genomes project.

These are exciting times for genomic medicine and the patients who are set to benefit from it.

  • The 2019 Health and Care Innovation Expo is being staged at Mancheter Central on 4 and 5 September and you can register now.
  • Get updates on Twitter @ExpoNHS and join the conversation around Expo 2019 by using the hashtag #Expo19NHS
  • View the agenda for Expo 2019.
Sue Hill

Professor Dame Sue Hill DBE FMedSci FRSB FRCP(Hon) FRCPath (Hon) FHCS (Hon) is the Chief Scientific Officer (CSO) for England and a respiratory scientist by background.

Throughout her career she has led on large-scale priority programmes across government and in NHS England including as the senior responsible officer for Genomics in the NHS, introducing a world-leading and nationwide Genomic Medicine Service, building on her work in heading up the NHS contribution to the 100,000 Genomes Project.

She has also played a pivotal role in the national COVID-19 programme leading the development and deployment of testing technologies into use for the UK population and co-directing the whole-genome sequencing of SARS-CoV-2 programme.

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