麻豆社

Due to the significant application of genomics in medical research and healthcare, the global market for genomics has grown substantially over recent years and is estimated to grow by 拢10.75bn between 2021 and 2025.²

The UK has built up global leadership and expertise in genomic capability. This legacy is supported by considerable cross sector expertise, with the Bioindustry Association (BIA), Medicines Discovery Catapult (MDC) and Wellcome Sanger Institute identifying over 140 genomics companies in the UK,³ generating an estimated total turnover of 拢2.4bn.⁴听These genomic capabilities underpinned the UK鈥檚 response to the pandemic, with the COVID-19 Genomics UK Consortium (COG UK) and a vast diagnostic and sequencing network, putting genomics at the heart of the UK鈥檚 research and public health efforts. These genomic capabilities underpinned the UK鈥檚 response to the pandemic, with the COVID-19 Genomics UK Consortium (COG UK) and a vast diagnostic and sequencing network, putting genomics at the heart of the UK鈥檚 research and public health efforts.

Recognising the UK鈥檚 strengths in genomics and the opportunities to unlock further benefits for patients across the country, the UK Government published a national strategy, Genome UK, which outlines how it will maintain and extend the UK鈥檚 leadership position. Between 2022 and 2032, the four nations of the UK will work together with the NHS and life sciences sector to realise the potential of genomics for the benefit of patients and ensure that the genomics services thrive in each nation.

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From a global pharmaceutical industry perspective, a virtuous cycle is needed, where genomic-enabled R&D drives the delivery of new genomic medicines, which in turn informs the next era of genomic R&D and genomic medicine, to maximise patient benefit. However, too few patients are currently benefiting from the UK鈥檚 genomic expertise and assets.

To fulfil the ambition of Genome UK, the UK must drive improvements across the system to translate its R&D expertise and vast infrastructure into improved patient access to genomic medicine.

This report describes both the strengths and weaknesses of the UK鈥檚 genomics offer, identifying how the sector can work together to attract further investment and deliver an enhanced offer for patients and their families.

Recommendations

Harnessing genomics for research and development

1. The Medical Research Council - UK Research and Innovation (MRC-UKRI) should partner with industry, academia, and charities to scope and deliver the UK Functional Genomics Initiative, ensuring plans build on the UK鈥檚 existing expertise and infrastructure.

2. The UK government and NHS should fully deliver the commitments in the Data Saves Lives and Accelerating Genomic Medicine in the NHS strategies, to drive interoperability and connectivity between flagship research programmes and across genomic and health data assets.

3. Genomic medicine services across the four UK nations should work with the research sector to develop a UK-wide Genomic Research Collaborative (see figure 2) which:

i. Supports healthcare systems across the four UK nations in offering the opportunity to participate in genomic research to every individual receiving a genomic test in the NHS.

ii. Monitors and reports on participation in genomic research, promoting diversity and inclusion in recruitment and data collection.

iii. Establishes a framework for genomic research involving clinical and laboratory resources, to ensure ethical and responsible conduct.

4. UKRI should work with industry partners and across research councils to establish an education and training programme for PhD students and post-doctorates to support upskilling in genomic-driven research approaches.

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Using genomics to improve disease prevention and patient care

5. Genomic medicine services across the four UK nations should standardise processes, referral pathways and timelines for genomic testing, ensuring testing is delivered in clinically relevant timelines. For England, this should also include coordinated working with Community Diagnostic Centres on processes and flows for diagnostic genomic and pharmacogenomic testing.

6. Genomic medicine services across the four UK nations should publish annual reports on performance metrics and user feedback from healthcare professionals, industry, patients and their families. This should include a comprehensive overview of testing capabilities, turnaround times, and timelines for service improvement, to raise awareness of current and future capabilities.

7. The healthcare systems in all four UK nations should work with industry and regulators to enhance the current horizon scanning function for genomic advances and technologies, to ensure the genomic medicine services adopt new innovations, in line with global trends.

8. Genomic medicine services across the four UK nations should establish a clear process for adding new tests and increasing uptake of newborn screening, ensuring appropriate support is in place for families.

9. Genomic medicine services across the four UK nations should work with Royal Colleges and industry to disseminate and encourage uptake of genomics education materials and resources, including the NHS Genomics Education Programme and Royal College of GPs Genomics Toolkit.

10. The healthcare systems in all four UK nations should incorporate the needs of the genomics workforce in their long-term strategic workplace planning, ensuring there is a recruitment, retention and development strategy to grow the genomic medicine service workforce.