Genome UK: a new National Genomics Healthcare Strategy

By Philippa Brice

25 September 2020


It’s been quite a wait, but the much-anticipated National Genomics Healthcare Strategy, has now landed. GENOME UK: The future of healthcare sets out plans to use genomics to drive improvements in diagnosis and personalised medicine; disease prevention; and research. All to be achieved by building on existing major institutions, funding streams and infrastructure: the NHS Genomic Medicine Service and Genomics England; the Accelerating Detection of Disease (ADD) challenge; and the research resources UK Biobank and NIHR BioResource.

Leveraging genomics excellence

These plans have been a long time in the making. The intention to produce a strategy ‘to ensure the UK is able to offer a predictive, preventative and personalised health and care service for people with rare diseases’ and ‘make the UK the global leader in genomic healthcare’ was first announced in February 2019.

The final ten-year strategy goes much further, firmly outlining plans to support genomic healthcare for the whole population, and for prediction and prevention as well as diagnosis and management of disease.

It sets an ambitious course, seeking to deliver ‘the most advanced genomic healthcare system in the world, underpinned by the latest scientific advances, to deliver better health outcomes at lower cost’.  There is a focus on early, rapid and precise disease diagnosis for rare inherited diseases, cancer and infectious diseases, and on personalised medicine and public health, as well as research.

The report was commissioned by the National Genomics Board (NGB), an advisory body originally recommended in the 2016 annual report of the Chief Medical Officer, Generation Genome, and established in 2018 with then health minister Lord O’Shaughnessy as chair.

Providing personalised medicine

The strategy outlines plans to use genomics in routine healthcare, offering whole genome sequencing via the NHS England Genomics Medicine Service, as previously announced, as well as pharmacogenetic testing to optimise drug treatments for individual patients.

Significantly, there is a commitment to ensure that multidisciplinary teams (MDTs) ‘can draw on a range of genomic, imaging and longitudinal health and care data’ to improve cancer patient outcomes. NHS cancer treatment already relies heavily on the use of MDTs that bring together varied experts to optimise management of cancer, and genomic data is increasingly central to this.

Unsurprisingly, the vital role of genomics in the detection and control of infectious diseases is also strongly emphasised, with commitments to use the latest sequencing technologies in a rapid, integrated and effective manner – all strongly advocated for by the PHG Foundation in our 2015 report Pathogen genomics into practice

There is no question that genomics can and already is offering significant patient benefits through personalised medicine - the PHG Foundation reports for NHS England in 2018 and the AHSN Network in 2020 underline these opportunities. To see them form the core of the new strategy is absolutely correct; this is an area where the NHS is definitely already leading the world.

Enabling predictive prevention

There are two main elements to plans to boost prediction and prevention of disease using genomics. Firstly, research to determine whether and how sequencing should be used for screening in newborns; secondly, for targeted screening. The rare disease strategy implementation update in 2019 mentioned plans for the National Screening Committee to work with Genomics England on opportunities for whole genome sequencing of newborn babies, so this is consistent.

Importantly, the new strategy places a clear question mark over the idea, which is positive; whilst newborn genome sequencing would unquestionably yield a rich research resource, many in the genomics community have reservations about some of the potential clinical uses of such information - careful consideration and trials are called for before any plans for national roll-out.

Targeted screening using genomics to refine risk and stratify screening is less contentious - and has considerable potential - but it needs supporting policy, as called for by the new PHG Foundation report, Personalising breast cancer preventionSimilarly, testing the family members of cancer patients for genetic indicators of increased risk could yield significant benefits in prevention, and expansion of non-invasive prenatal testing genomics approaches will allow more women to benefit from prenatal diagnosis of disease without risk to their pregnancies. But both will require careful evaluation to guard against potential harm.

Underpinning research

The final pillar of the genomics healthcare strategy is to support research and create ‘a seamless interface between research and healthcare delivery’ by delivering infrastructure, standards and systems for the integrated collection of genomic and clinical data for research. These are vital for clinical care in genomics, thanks to the fast-moving development of knowledge in this area. The PHG Foundation has  strongly advocated for these in advice to the government, for example our contributions to the consultation on the NHS Long Term Plan and recent report on the impact of data protection law on genomics and health.

There are also plans to actively create more diverse genomic datasets to reflect the UK population, an important step to ensuring that the insights and opportunities arising from genomic research can be used appropriately for people and patients from different ethnic groups, as underlined in our recent report AI for genomic medicine. These steps all support a clear and laudable intention that genomic research will be used to directly improve healthcare via the NHS and also support innovation and growth of the UK genomics industry.

Final verdict? Worth the wait

Overall, this is an excellent and robust strategy, combining a postive future vision and  ambitious reach with a clear-headed assessment of the vital policy and other elements needed to realise the vision – assuming sufficient funding is also forthcoming, of course; this is essential  to deliver the strategy. The money already allocated to the major projects such as the ADD challenge and five million genomes is not enough to also provide the essential support factors.

Although the whole strategy is clearly based on the belief that genomics offers incredible potential for health – which it does – it is not based on hype and hyperbole, but recognises important realities, notably that:

  • Healthcare approaches must consider environmental and lifestyle factors as well as genomics as determinants of health
  • Implementation of genomics tools and approaches must be based on robust and recent, multidisciplinary evidence of effectiveness
  • Public and patient understanding and trust are vital and can be supported though effective engagement and dialogue
  • Training and development of the health workforce will also be needed along with implementation support such as standards of care and clinical guidelines

Sustained leadership and strategic coordination of the themes and activities of this ambitious vision will be essential to maximise clinical and public health benefits and avoid unintended consequences. As recent experience has shown, implementing new genomics-based testing and care in the NHS is complex and requires considerable effort. Sufficient resources and capacity will be necessary. 

These have been consistent messages from us, alongside delivering a wide range of relevant policy research on the use of genomic innovations in healthcare and public health services, including ongoing work in genomics and risk, genomics in healthcare, and related areas such as the regulation of genomic data, application of AI to genomics, and more.

Indeed, the Genetics Scenario Project undertaken by the Foundation’s predecessor NHS Public Health Genetics Unit for the Nuffield Foundation back in 2000 – a world away from our genomic present - called for the UK government to produce a policy framework for the clinical and public health applications of genetics, to be developed in consultation with community stakeholders and the general public; to enable partnering between the NHS, academia and industry; and to be based on a set of core values. The new strategy delivers on these recommendations, calling for the wider genomics community to develop and unite behind a shared set of principles to drive the ongoing development and application of genomics for health. 

Having worked to do so for over 20 years, the PHG Foundation is proud to continue to contribute to this crucial endeavour through our ongoing multidisciplinary policy work on the use of genomics and related technologies in health services and systems, for individual and population health. We look forward to more details on the delivery of the strategy.

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