Accelerating genomic medicine

Philippa Brice

17 October 2022


A new NHS England (NHSE) strategy, Accelerating genomic medicine in the NHS, was released on 12th October, alongside the first NHS Genomics Healthcare Summit in London.

This document is an important piece in the genomic policy puzzle that sets out the way forward for genomics in the UK, following on from the Genome UK national genomics healthcare strategy in 2020 and the subsequent implementation plan in 2021, alongside the launch of the Genomic Medicine Service (NHS GMS) in 2018.

Introduced by NHSE CEO Amanda Pritchard and CSO Dame Sue Hill, the new strategy acknowledges the significant and systematic problems the NHS is currently facing in the post-pandemic, post-Brexit period of economic turmoil. However, it is insistent that genomics ‘will be at the heart’ of a sustainable future model of NHS healthcare and that a ‘comprehensive and ambitious national approach’ is needed to achieve this. It sets out four broad priority areas:

  • Embedding genomics across the NHS – including primary and community as well as secondary and tertiary care
  • Delivering equitable genomic testing – for cancer, rare and common diseases, including and to reduce adverse drug reactions
  • Enabling genomics to be at the forefront of the data and digital revolution – effective integration with other diagnostic and clinical data
  • Evolving the service – research, innovation and rapid implementation

Building sustainable foundations

The need for the existing genomic medicine service delivery model to expand and evolve into one ‘embedded across the NHS care continuum’ is set out in the strategy, which emphasises the need to develop capacity and capability across workforce and leadership and a corresponding sustainable infrastructure for genomic testing, analysis, and interpretation to underpin both clinical services and ongoing research and innovation. Importantly, there is a clear recognition of the need to co-create services and systems with patients and the public.

In terms of service delivery, the strategy aims to expand genomic testing for better prediction, prevention, diagnosis and management of disease, including precision medicine approaches to optimise the selection and use of therapeutics, with clear guidance on how tests should operate within clinical pathways and accelerated uptake of ‘affordable, efficient and innovative’ genomic technologies. It also highlights  the need to maintain a clear picture of emerging new technologies and the gaps or needs they could address, but also to generate evidence of utility and undertake robust evaluation of the broad implications of incorporating them into practice.

Powering prevention

Prospects for population health applications of genomics are emphasised in the new strategy, referring to the capacity for genomic medicine to empower individuals and family members to understand disease risk and ‘to access interventions to either prevent the development of conditions, treat the condition, or manage their individual risk to prevent more serious health impacts’. Exploration of the role of community diagnostic centres in partnership with the NHS GMS is cited as one area where preventative opportunities may arise, initially looking at inherited disease testing. Ultimately, of course, there may also be opportunities for more general forms of personalised prevention, such as integrating genomic testing with screening.

Onwards and upwards: data, research and innovation

The links between research and clinical care in genomics are clearly recognised by the strategy, which calls for an ‘interoperable informatic and data infrastructure’ to share genomic and other health data to improve immediate patient care and also ‘drive health improvements for individuals and populations’, ie. inform research. Genomics may well prove to be the leading example for how the traditional boundaries between research and practice need to change to enable innovation.

A planned new NHS Genomics Data and Digital Board will oversee delivery of efficient, interoperable data infrastructure, standards and informatics implementation plan, in partnership with key organisations such as Genomics England. There is also a firm emphasis on developing national and international collaborations and partnerships within the document, and Amanda Pritchard was clear in her speech to the first NHS Genomic Healthcare Summit that this included commercial partnerships, with an eye to generating wealth as well as health for the country.

As concerns over some forms of commercial exploitation are typically foremost among public hesitation about genomic and health data sharing, co-creation approaches will need to tackle this head on – but transparency about these ambitions is helpful here, as are commitments to ‘enable patients to make informed choices regarding the use of their data for research and innovation’. There are also plans to align with clinical trials and other life sciences research initiatives to underpin the development of novel tests and treatments, and to generate new evidence for adoption and improvements in health and care - presumably including NHS pilots such as the current NHS Galleri Trial.

Promising directions

Accelerating genomic medicine in the NHS strikes a proper balance between long-term ambition and short-term actions needed to progress towards these goals. Overall, the new strategy seems set to enact the PHG Foundation’s historic calls for action to support the effective sharing and use of genomic data; embed genomics in mainstream medical systems and practice; accelerate access to innovations for more personalised treatment and care; and place patients at the centre of developments to build trust and trustworthiness in genomics services. Recent consultation responses and reports have made more detailed recommendations for efforts to make the most of genomics for more precise and personalised individual and population health.

As with any policy plan, the real test will be in delivery of the aims and activities set out in the strategy – no trivial undertaking, and at a time of significant operational challenge across the health system. However, there can be no question that a considered and appropriate blueprint for success is now firmly in place, and is to be warmly welcomed.

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