Putting Genome UK into practice: genomic healthcare strategy implementation

Implementation plans for the UK’s landmark Genome UK strategy have been released today, with specific commitments for all the major players in genomics research and healthcare over the coming year revealed.

The bigger picture for genomics and health

The National Genomic Healthcare Strategy, launched in September 2020, is a ten-year vision for steps to consolidate the UK’s position as a global leader in genomics. This means using genomic and health data for research and innovation, supporting and growing the life sciences industry, and ensuring that National Health Service (NHS) patients gain maximum benefit from this scientific and clinical excellence.

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’, the broad-ranging strategy covers 24 commitments across three ‘pillars’: diagnosis and personalised medicine, early disease detection and prevention, and research. It is ambitious in scope, but also realistic about the issues and barriers to progress that need to be addressed to realise the vision, such as issues around equity, ethics, data sharing and skills. These form the basis of a further 21 commitments across five cross-cutting themes: patient and workforce engagement, workforce development, data and analytics, industrial growth, and ethical and regulatory frameworks.

Commenting on the strategy when it was launched, the PHG Foundation was highly enthusiastic about Genome UK, but also noted the need for more details on plans for the delivery of the strategy, which are now available.

Driving the virtuous circle

The first annual Implementation Plan notes that a phased approach to delivery of the ten-year strategy is appropriate given the fast-moving scientific developments in genomics, allowing review and adjustment of the original commitments as may be necessary. It also explains that an Implementation Coordination Group, led by the Office for Life Sciences (OLS) will maintain oversight of delivery and further development of commitments.

The commitments in the plan for 2021-22 are extensive and wide ranging, varying from the highly specific and time-limited to more exploratory activities in certain areas. Many involve a degree of collaborative working, which is understandable given the highly interconnected nature of the ‘virtuous circle’ linking genomic and health data, research, innovation and clinical implementation. To this end, the plan notes that the OLS will work closely with NHSX, UKRI and other partners to build the investment case for a federated data infrastructure for genomics data.

Taking an even broader, international view, the Global Alliance for Genomics and Health will receive funding from the NIHR, MRC and Wellcome Trust to develop and promote standards and policies for sharing genomic and related health data. Other commitments for different major organisations and initiatives are as follows:

NHS Genomic Medicine Service

• Roll-out of whole genome sequencing (WGS) to patients with a suspected rare disease and certain cancers, as part of previously announced plans to sequence 500,000 whole genomes within the NHS
• Offer of more extensive genomic testing for patients who are newly diagnosed with cancer, including pan-cancer panels
• Work with Genomics England to deliver the first phase of next-generation approaches for cancer diagnosis and treatment, integrating multiple data sources
• Policies and strategies will be informed by the NHSE/NHSI People and Communities Forum
• A new NHS Genomic Medicine Research Collaborative will bring together NHS England and NHS Improvement, Genomics England and National Institute for Health Research (NIHR) to facilitate genomic research ’with insights being rapidly adopted into the NHS’.

Genomics England

• Work to improve the diversity of genomic datasets, to include currently under-represented ethnic minority groups and avoid ongoing health inequalities
• Lead public engagement on a potential newborn sequencing initiative
• Develop a new, next-generation Trusted Research Environment providing improved, authorised access to genomic and linked data to researchers from across the sector

NHS Genomics Workforce Steering Group

• Develop a clear picture of the current genomics workforce, to inform a genomics workforce plan and modelling
• Develop and implement evidence-based education and training plans
• Progress joint work between the Academy of Medical Royal Colleges and Health Education England on improving genomic knowledge in the wider medical profession, including on clinical pathways featuring genomic tests and outcomes

Wider NHS (NHS England, NHS Improvement, Public Health England, NHSX)

• Develop an evidence-based position on the wider introduction of PRS into routine care
• Begin three-year evaluative roll out of Non-Invasive Prenatal Testing (NIPT) for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome
• Ongoing delivery of SARS-CoV2 viral genome and host (patient) genome sequencing to inform diagnostics, vaccines, prevention and containment strategies
• Establish a world leading pathogen genomics system with expanded viral genome sequencing and analysis capacity and capability
• Recruit healthy people aged 50-79 (and a further 25,000 people with possible cancer symptoms) for NHSE-GRAIL pilot of Galleri blood test for cancer detection
• Work to understand the needs of those seeking to apply AI to genomics data

Our Future Health research programme (previously Accelerating Detection of Disease)

• Pilot a participant recruitment process, including offering new participants health related feedback and polygenic risk scores (PRS)
• Procure a supplier for delivery of PRS testing services
• Establish a governance structure with embedded public involvement and engagement

Other research commitments for 2021-22

Whole genome sequences for all 500,000 UK Biobank participants will be completed by the end of 2021; researchers will be able to access all of this data in 2022

• Research into the genetics of COVID-19 symptom severity will be led by EMBL-EBI and funded through UKRI.
• G2P-UK National Virology Consortium will work alongside COG-UK and PHE to boost UK capacity to study the effects of emerging virus variants and inform government policy.
• UK Functional Genomics Initiative proposals will be developed by the Medical Research Council

Take home messages

Any reservations that the initial commitments to implementation might lag behind the ambitions of the original strategy – a phenomenon not unknown in science and health policy – are firmly rebuffed by the extent and nature of the 2021-22 plan. There is no pause in the momentum of governmental ambitions to deliver a data-driven future for health, the impact of a global pandemic on research and healthcare systems notwithstanding. Indeed, the pandemic may have merely underlined the imperative to make genomic science work for health, as reflected in the clear ambitions to build on the viral genome sequencing triumphs of the past year.

It will take enormous efforts across the whole of the UK genomics community to deliver on these bold plans, but the combination of clear-eyed vision, evidence-based approach, determined leadership and a commitment to ongoing stakeholder engagement with patients, professionals and the public bode well for success.

Next steps in the sequence: implementation of Genome UK, the national genomic healthcare strategy