Organisation objective

• NHS Long Term Plan
• NHS Long Term Workforce Plan
• Governance

Working with people and communities

What approaches have been used to ensure people and communities have informed this programme of work?

• recruited patient and public voice (PPV) partners
• qualitative data and insight: for example, national surveys, complaints
• quantitative data and insight: for example, national surveys

Action required

The Board is asked to note the information provided in the report.

Background to the NHS Genomic Medicine Service (GMS)

1. The systematic application of genomic technologies has the potential to:

• enable a quicker diagnosis for patients and their families leading to better outcomes
• increase the number of people surviving cancer through early diagnosis and informing earlier treatment decisions
• support personalised and stratified treatments and interventions
• reduce adverse drug reactions and inform the appropriate use of medicines
• improve access to clinical trials and innovative discovery projects
• support the proactive identification of individuals and their families for predisposition or presence of ‘hidden’ diseases such as cancer or familial hypercholesteremia

2. The UK is at the forefront of genomics worldwide and has made significant strides in the NHS in England to implement genomic medicine and transform care.

3. The NHS has a long history of genomics, dating back to the first genetic laboratory services in the 1960s, and the UK’s involvement in the Human Genome Project, that led to transformational change in analytical and computing power. Then, in 2013 the world-leading 100,000 Genomes Project launched, with recruitment completed in 2018. This laid the foundations for the establishment of the NHS Genomic Medicine Service and transformed the way that genomics was delivered by the NHS in England.

4. There have been several key strategic documents and priorities that are aligned in ensuring the UK can capitalise on the rich life sciences ecosystem.

5. The UK government has continued to commit to ensuring the UK is a life sciences and medical technology powerhouse, while recognising that the NHS is the best-placed healthcare system in the world to take advantage of rapid advances in data, genomics and predictive and preventative medicine.

Overview of the NHS Genomic Medicine Service

6. NHS England launched the NHS Genomic Medicine Service in 2018 to support equitable access to genomics across the NHS in England and provide standardised care across the population. This included a world-leading national infrastructure and the adoption of cutting edge technologies, including a whole genome sequencing service.

7. The key elements of the NHS Genomic Medicine Service infrastructure include:

• a national genomics unit within NHS England with responsibility for:
  • policy, strategy and commissioning
  • scientific and laboratory expertise to support and drive scientific and technical developments
  • transformation to provide operational oversight

• 7 NHS genomic laboratory hubs that aim to standardise testing, reduce variation, ensure equity of access, meet growing demand, and provide access to the latest technology
  • a national genomic test directory that outlines the range of genomic tests available as part of the funded NHS clinical service, from single gene sequencing to whole exome and whole genome sequencing

• 7 NHS Genomic Medicine Service alliances which support the strategic systematic embedding of genomic medicine in end-to-end clinical pathways and clinical specialities

• 17 NHS clinical genetics services, delivering a comprehensive clinical genomic and counselling service that directs the diagnosis, risk assessment and lifelong clinical management of patients of all ages and their families who have, or are at risk of having, a rare genetic or genomic condition

• a genomics education programme within NHS England with responsibility for driving workforce development and education and training to support the systematic embedding of genomics in the NHS

• 16 cellular pathology genomic centres to optimise pathway selection according to clinical urgency and suitability

• a partnership with Genomics England to deliver a whole genome sequencing service, as well as the National Genomic Research Library, which enables ongoing research and discovery from approved researchers, academia and industry

8. Across England there are around 2,000 funded NHS staff dedicated to the delivery of the NHS Genomic Medicine Service. This is a multi-professional workforce including medical, scientific, informatics, innovation, pharmacy, nursing and midwifery and general practice leadership that is evolving to meet the demands of a rapidly expanding service, which aims to make genomics commonplace within the NHS.

9. In October 2022, NHS England published Accelerating genomic medicine in the NHS: the first NHS genomics strategy to outline the vision for embedding genomics in the NHS over the next 5 years through 4 priority areas to:

• embed genomics in the NHS through a world-leading innovative service model
• deliver equitable genomic testing for improved outcomes in cancer, rare, inherited and common diseases
• enable genomics to be at the forefront of the data and digital revolution
• evolve the service through cutting edge science, research and innovation

Key achievements in 2024

10. The NHS Genomic Medicine Service has made significant progress against the 4 priority areas outlined in the NHS genomics strategy, including delivering 14 of the 36 commitments to date, with progress ongoing in all other areas.

11. The progress being made by the NHS Genomic Medicine Service was showcased at the Genomics Healthcare Summit held in London in December 2024. Key areas of progress in 2024 are highlighted below against the 4 pillars of the strategy.

Embed genomics in the NHS through a world leading innovative service model

12. An NHS Genomics, Ethics, Equity and Legal Advisory Group was established to provide expertise and consider ethical and legal themes within the NHS, while ensuring that the NHS Genomic Medicine Service provides equitable access to all patients.

13. NHS England launched an innovative partnership with the NHS Race and Health Observatory to oversee research on identifying and addressing inequities that may exist within the NHS Genomic Medicine Service.

14. The first ever dedicated international genomics education and training meeting was held, bringing together global leaders in health systems, national initiatives or governments around the world which are working in genomics to use education and training to drive the embedding of genomics into healthcare for patient benefit.

15. NHS England signed a memorandum of understanding with Singapore and France, building on previous memoranda signed with other countries in recent years, to strengthen ties and share learning on how genomics can be embedded within a healthcare setting.

Deliver equitable genomic testing for improved outcomes in cancer, rare, inherited and common diseases

16. In 2024 the NHS Genomic Medicine Service delivered over 810,000 genomic tests for patients across the life course in England. This has continued to increase year-on-year since the NHS Genomic Medicine Service was established, and increased by 8% compared to 2023.

17. The National Genomic Test Directory currently includes genomic tests for 7,000 rare and inherited diseases and over 200 cancer clinical indications. Since 2018 there have been over 350 changes to the National Genomic Test Directory, including 12 directly in response to industry led innovative newly licensed precision medicines, as well as over 2,500 changes to clinical indications following the use of Panel App.

18. NHS England has supported a programme with the British Heart Foundation and involving the Chief Coroner in England and Wales to transform pathways for sudden cardiac death, which has demonstrated the significant benefits of a ‘genomics first’ approach to diagnosis. The programme has seen 108 deceased index cases, which resulted in the identification of 489 family members at risk. 271 of these have entered inherited cardiac condition services for assessment and testing. Work is underway to support the development of a model for roll out across England.

19. NHS England has also supported the Lynch Syndrome Programme to deliver more effective genomic testing and diagnoses, by supporting secondary care teams to establish robust testing pathways that are complaint with NICE guidelines.

Enable genomics to be at the forefront of the data and digital revolution

20. NHS England has set out a genomics data and digital vision aligned with the wider NHS priorities for digital transformation, including interoperability and standardisation to enable data to flow between healthcare systems, with a unified genomic record available for every patient and family member, to enable access to genomic data across the NHS.

21. In 2024, significant progress has been made in the development of the digital National Genomic Test Directory, with a proof of concept delivered in November 2024, that met all technical success criteria. A minimum viable product is expected in June 2025.

Evolve the service through cutting edge science, research and innovation

22. The NHS Genomic Medicine Service has established an approach to embedding innovation into NHS routine clinical care, which was recognised by the NHS Innovation Ecosystem Programme in November 2024 as being a model for others in the NHS to follow. The innovation pathway is delivering benefits; for example, the use of ctDNA in non-small cell lung cancer is identifying genetic mutations, that is then able to guide treatments.

23. A key element of the NHS Genomic Medicine Service innovation infrastructure are the NHS genomic networks of excellence, that support research with a range of partners and develop models of adoption to inform commissioning. In 2024, 8 NHS genomic networks of excellence have delivered programmes of work on areas of strategic importance including cancer, rare and inherited disease, pharmacogenomics, infectious disease (including respiratory metagenomics), artificial intelligence and others.

Considerations for the future

24. There are 6 key trends in genomics that we anticipate will be central to the future development of the NHS Genomic Medicine Service, but will be dependent on strategic planning and investment decisions:

1. Accelerating the use of automation and industrialisation in laboratory services.
2. Expanding the genomic testing offer with new advances and technologies inclusive of multi-omics and precision medicines.
3. Generating and building into commissioning decisions evidence for the adoption of innovation.
4. Improving the data and digital infrastructure to connect genomic and clinical data in near real time.
5. Developing the workforce to mainstream genomics and making genomics commonplace in the NHS, normalising its use among healthcare professionals.
6. Introducing new service models, including bringing the national whole genome sequencing service in-house.

25. We will continue to progress the NHS genomics vision to be world leading in implementing genomic medicine to enable patients to access the most effective care and treatments.

Publication reference:  Public Board paper (BM/25/05(Pu)