The UK Government yesterday announced plans for a new National Genomic Healthcare Strategy ‘to ensure the UK is able to offer a predictive, preventative and personalised health and care service for people with rare diseases’.
The announcement was made ahead of Rare Disease Day today, which draws the attention to the impact of rare diseases on patients and families, and to improve access to treatment and care. It coincided with the release of the latest update to the UK Strategy for Rare Diseases Implementation Plan, which noted major progress in genomic medicine for rare disease in the last year including launch of the NHS National Genomic Medicine Service and development of a ‘patient choice’ model for clinical care and taking part in research, both led by NHS England. It also reported that the National Screening Committee is currently looking at opportunities to use genomic technologies in screening programmes.
National Genomics Board to the fore
Minister for Innovation Baroness Nicola Blackwood – who has personal experience of living with a rare disease – yesterday said that the government would be working with the National Genomics Board and the broader genomics community to develop the National Genomic Healthcare Strategy.
The National Genomics Board (NGB) was first proposed in the Chief Medical Officer’s report for 2016, Generation Genome, and formally established in March 2018. The Board’s remit is to ensure that the UK ‘remains the world’s leading centre for genomic medicine and research’ and deliver benefits for NHS patients and the life sciences sector. This is in line with the Life Sciences Sector Deal 2 of December 2018 that reiterated government commitments to build ‘unique, long-term genomics assets’ to help secure biopharmaceutical industrial investment and stimulate further development of a UK-based genomics industry.
The NGB was originally chaired by Baroness Blackwood’s predecessor Lord O’Shaughnessy, a role she has presumably inherited, and includes representatives from government departments, NHS England, Genomics England, UKRI, the Wellcome Trust, CRUK and the pharmaceutical industry. Little is publicly known of the NGB since it was set up, but clearly it will play a pivotal role in driving the planned new strategy.
Baroness Blackwood echoed Health Secretary Matt Hancock’s October 2018 announcement of plans for the UK to lead the world in genomic medicine, to sequence five million whole genomes in five years (with a firm commitment to one million whole genomes over this period) and, as part of the NHS Long Term Plan, to pioneer the application of technology and data in personalised prediction, prevention and treatment of disease.
Engaging the genomics community
The formal Government response to the excellent House of Commons Science and Technology Committee 2018 report, Genomics and genome editing in the NHS, noted that the NGB had established and Engagement subgroup to ‘enable discussion and debates on developing issues in genomics across society and inform government, the NHS and scientific and research communities when framing future genomics strategies across healthcare, industry and research’. Presumably this subgroup will therefore be leading the way in engaging with the wider genomics community on development of the new healthcare strategy as per Baroness Blackwood’s announcement. It is fair to say that there is a lot to discuss.
Healthcare staff will of necessity have a central role to play in delivery of genomics in the NHS. The recent Topol Review underlines the urgent necessity of embedding appropriate training in genomics for health professionals at all levels (as strongly advocated by the PHG Foundation). This view is endorsed in the government mandate to Health Education England for 2018-19 released this month; this is only one month ahead of the end of the period it covers for deliverables, but also includes goals for 2020, which include that HEE should undertake modelling and planning and embed genomics at all levels of the current and future workforce. It also calls for all healthcare staff to ‘embrace research and innovation’ and HEE to ‘demonstrate commitment to the UK Life Sciences growth agenda’, including in genomics and bioinformatics.
Trouble ahead?
The government’s ongoing commitment to leverage investment in genomics for both healthcare and commercial benefits could not be clearer; it is constantly and consistently reiterated throughout policy documents, announcements, interviews and comments. Maintaining a coordinated, coherent strategy across both sectors is an important step towards achieving this goal. However, there are many complexities that must be navigated to ensure a successful balance between health and wealth benefits from genomics, since they do not always align precisely.
This is amply demonstrated by early mentions of the plans for ‘genomic volunteers’. Health Minister Matt Hancock has enthusiastically endorsed this proposed paid-for NHS personalised genome sequencing service as a means to predict and prevent disease as well as build knowledge, but it has simultaneously provoked many wholly reasonable questions and concerns from the healthcare genomics community. Since the latest rare disease strategy implementation plan includes commitments both for Genomics England to develop this service and also for the National Screening Committee to work with Genomics England on opportunities for whole genome sequencing of newborn babies, further scrutiny – and potential dissent – by the wider genomics community could lie ahead.
The UK is admirably well positioned to continue to lead the world in harnessing the power of genomics for health in the next few years, but the task ahead is complex and challenging. Proper engagement with all sections of the healthcare genomics community (including, but certainly not limited to, the rare diseases sector) as the potential of genomics across medicine and public health is realised will be vital to deliver the robust policy decisions needed for enduring success.