Genomics, research, health and policy: new UK government directions
22 December 2022
As an undeniably exciting year for genomics draws to a close, new policy releases from the UK Department of Health and Social Care have reviewed recent developments and set out future plans.
The Genome UK 2022 to 2025 implementation plan for England follows on from the original Genome UK ten-year national genomics healthcare strategy, associated 2021 to 2022 implementation plan and the more recent Accelerating genomics in the NHS five-year NHS England strategy.
The new plan was accompanied by the announcement of £175 million funding for genomics research initiatives, which drew widespread media attention, and also by another less prominent (but nevertheless important) policy document, the Code on genetic testing and insurance three year review.
Will genomics pave the way for healthcare reform?
The new funding was primarily for research into whole genome sequencing of 100,000 newborn babies led by Genomics England, with £105 million allocated. The wholly NHS-owned commercial company also benefited from a further £26 million for the Cancer 2.0 research programme, combining long-read sequencing and digital pathology techniques in a bid to improve the speed and precision of cancer diagnosis, and £22 million for the Diverse Data programme, which seeks to sequence genomes from currently under-represented ethnicities. There was an additional £25 million in UKRI-MRC funding for functional genomics research announced at the same time as the more closely NHS-linked programmes.
The main purpose of the implementation plan for England is said to be ensuring ‘significant progress in realising the benefits of genomic healthcare’ by 2025, focused on delivering better health outcomes for patients and supporting sustainable delivery of the healthcare system. The policy paper states that it is expected that ‘genomic healthcare will play a significant role in enabling healthcare reform, propelled by a growing genomics research sector’ to support economic growth. Much depends on what is meant by healthcare reform in this context – presumably systems to deliver equitable access to genomic healthcare and to support genomics-linked clinical research, rather than to directly address wider issues such as rising demand, funding models and workforce shortages.
The plan sets out proposed preliminary metrics for determining how far the Genome UK implementation plans have been achieved, whilst also noting that it will not necessarily be possible to ascertain how much progress is due to specific Genome UK activities, as opposed to other factors. These metrics will be derived from NHS England, NIHR Bioresource, UK Biobank, Genomics England and Our Future Health – the major delivery partners for different elements of the plan.
Enabling research in the NHS
Metrics include the numbers of different genomic tests undertaken in the NHS and genomic diagnoses returned to patients; of human genome sequences available for research in national trusted research environments / secure data environments and of researchers accessing them; and of clinical trials recruiting participants on the basis of genomic data and participants enrolled in research studies including genetics.
Embedding research alongside clinical care improvements remains a clear ambition throughout the plan. Of particular note are the commitments to infrastructure development that will enable clinical research, including developing a platform for rapid and tailored recruitment to clinical trials and research studies, and suitable data architecture and standards. Further development of data systems and analytical tools for pathogen genomics via the UK Health Security Agency (UKHSA) are also covered.
Besides the many proposals for clinical diagnosis, care and research, the new plan includes commitments to improving prediction, prevention and early diagnosis of disease. The Newborn Genomes research, which ‘could result in thousands of life-saving interventions’ as well as driving medical discovery is a major pillar, alongside work by NHS England and the US company GRAIL on circulating tumour DNA testing, and by Our Future Health and UK Biobank to investigate polygenic and integrated risk scores in healthcare.
The policy paper references the PHG Foundation’s work on the application of polygenic scores for risk prediction and correctly restates the conclusions of these analyses, namely that additional research is required to determine the clinical utility of using polygenic scores in different contexts, and to assess the options for effective delivery within relevant care pathways for situations where evidence of significant clinical utility is found.
Genetics and insurance
The Code on Genetic Testing and Insurance review may have attracted less scrutiny than the Genome UK funding announcements and implementation plan, but is nevertheless a significant document. The Code succeeded the older Concordat and moratorium on genetics and insurance established between the UK government and the Association of British Insurers (ABI), which by mutual agreement restricts the use of genetic testing in relation to health or life insurance.
In the early days of genetics, this agreement was seen as important in maintaining public confidence in research and healthcare applications. Interestingly, although the predictive and diagnostic capacity of genomics has changed out of all recognition since the original moratorium was put in place, there has been no change in the limitations it and the more recent Code impose, permitting disclosure of genetic test results only for a single condition (Huntington’s disease) and solely for high-value insurance cover.
This is presumably because, as the Review itself notes, the developments in genomic medicine have positive impacts for health and insurers ‘do not want concerns over access to insurance to inadvertently hinder the uptake of genetic testing’. The ABI is correct that concerns about potential adverse impacts on insurance coverage are frequently cited by patients and the public when discussing genomics. However, this is only part of the reasoning; the Review goes further, noting that although predictive genetic testing may now be useful, ‘insurers currently believe the information they already have available to them allows a robust assessment of an individual’s risks’.
This being said, the Review also underlines that there is potential for the increased use of genetic testing to create an informational asymmetry, whereby consumers may have information of significant relevance to their health risks that they choose not to share with insurers to the extent that insurance risk prediction and premiums (and hence, profitability) are affected. Therefore, in 2023 there are plans to explore further questions of how the Code should define predictive and diagnostic genetic testing; and to develop a ‘transparent and accessible approach’ to assessing conditions besides Huntington’s Disease for potential future inclusion in the Code. This will be achieved through a new call for evidence and workshops with stakeholders including patients and carers, healthcare professionals, the insurance industry, and the public.
Besides this, there will also be an updated Consumer Guide about genetic testing for healthcare and insurance, a sensible measure that was strongly recommended in 2022 stakeholder consultations.
Towards a genomic future
Although these recent announcements and commitments are by no means insignificant, or brief – nicely illustrating the industrial scale of the genomic medicine endeavour as the UK strives to maximise health and wealth benefits from national expertise and ambition – inevitably, much is yet to be revealed. More detail is expected to emerge in the early part of 2023 with respect to commitments on the many and varied research programmes and clinical developments that fall within the Genome UK scope, including clinical genomics service commissioning, not to mention additional information about how the other UK nations will approach shared commitments. However, it seems certain that the pace of development in genomics, healthcare and policy will only accelerate over the coming year.