In a laudable policy decision to listen to concerns raised by the genomics community, plans for paying ‘genomic volunteers’ to receive NHS whole genome sequencing have been dropped.
The bigger picture
The concept of healthy genomic volunteers was raised in 2018, when the Life Sciences Sector Deal 2 made a commitment to investigate it, alongside promises to sequence one million whole genomes within five years and clearly expressed government ambitions to achieve as many as five million genomes. The driving force was to capitalise on existing UK excellence in human genomics, following on from completion of the 100,000 Genomes Project and launch of the world’s first National Genomic Medicine Service by NHS England.
Political commitment to the genomic volunteers was further underlined by press comments from the Health Secretary Matt Hancock in early 2019, when he said: “While healthy people should not have this service free on the NHS, there are huge benefits to sequencing as many genomes as we can…Every genome sequenced moves us a step closer to unlocking life-saving treatments".
The last update to the UK Rare Diseases Strategy Implementation Plan in February 2019 included a commitment for the Office for Life Sciences (OLS) to support Genomics England in their work to ‘scope the development of a first-of-its-kind service to enable genomic volunteers to pay for a personalised report on their unique genetic make-up’ in the context of plans to sequence five million human genomes and create a unique database for public and commercial researchers.
The concept of genomic volunteers
In general, the plans for both NHS services and research databases have been met with considerable enthusiasm across the clinical, academic and commercial genomics communities - but the idea of charging healthy volunteers for genome sequencing provoked widespread concerns.
Naturally, there is considerable potential research value in having many genomes and linked clinical records from individuals who are healthy, as well as from those receiving genome sequencing because they, or their family members, may be ill – rare diseases and cancer being the primary indications. Similarly, having as diverse a pool of contributors to a genomic database as possible is all to the good. Finally, whilst the costs of genome sequencing have fallen considerably and the new infrastructure for genome sequencing and analysis established for the National Genomic Medicine Service should maximise efficiencies, it is still not cheap – so producing 1-5 million genome sequences is financially as well as logistically challenging.
Presumably the thought was that if selected UK citizens are spending money on having their genomes sequenced by private companies for health-linked information anyway – often of dubious analytical and clinical validity – then why not kill two birds with one stone and offer them state of the art clinical analysis for a fair price, whilst also allowing them to contribute directly and indirectly to the creation of a research database and a broader public good? A bit of creativity in policy-making can be an excellent thing.
There were however some serious potential flaws in this plan, which the genomics community were not slow to highlight. The main stumbling blocks were firstly the currently limited ability of genome sequencing to predict disease in healthy individuals; and secondly that those paid volunteers (something of an oxymoron) who received reports of significantly increased disease risks would necessarily seek further medical support from the NHS. This would effectively allow individuals willing and able to pay for genomic testing as ‘volunteers’ fast-track access to preventative care on the NHS, creating a two-tier system at odds with current NHS principles of free, equitable access on the basis of clinical need.
A better recipe for success?
Government plans for both five million genome sequences as a unique clinically-linked research database, a new National Genomic Healthcare Strategy and personalised prevention and personalised medicine underpinned by genomics appear to remain firmly in place – especially given the reappointment of Matt Hancock as Secretary of State for Health in the newly formed cabinet.
However, the white elephant of paying genomic volunteers appears to have been wisely discarded. The new Green Paper on Prevention released this week outlined further detail on plans for an Accelerating Detection of Disease (ADD) programme – first mooted in the Life Sciences Sector Deal 2 – referring to the sequencing of five million genomes from ‘healthy participants’ by NHS scientists. The Guardian newspaper has reported that the Department of Health and Social Care confirmed these would be non-paying volunteers preferentially recruited from ‘under-represented groups, such as ethnic minorities’ to address existing health inequalities.
This may create additional financial challenges for the project, but how many people would have been willing to pay for sequencing and at what level was questionable anyway. There is probably considerably more scope for mass recruitment of healthy citizens representative of the wider population to participate in a large-scale, NHS-linked genomic database endeavour now that the issue of payment has been side-lined – especially with big hitting charities Cancer Research UK, Alzheimer’s Research UK and the British Heart Foundation as partners.
Remaining questions for policy
It would be premature to see the future of genomics in the UK as settled just yet; whilst the issue of payments may have been settled, concerns about the clinical utility of predictive information remain – and the Green Paper’s assertion that a central part of the ADD initiative will be to ‘offer as many participants as possible their PRS’ (polygenic risk scores) if anything exacerbates this – the evidence for clinical utility of PRS is not yet determined. The purpose of the massive research cohort would in part be to produce such evidence.
British Society for Genetic Medicine Chair Prof Anneke Lucassen said she was still worried about how healthy participants might interpret predictive information returned to them – highlighting the Health Secretary’s own comments to the media that a genetic test that showed an increased risk of prostate cancer (effectively to around 15% compared with an average of 12%) might have ‘saved his life’ as he would certainly now participate in (currently non-existent) screening programmes:
“His misinterpretation of his own genetic result is a good example of how this can go wrong and what the implications might be for the NHS with unnecessary appointments, surveillance and treatment requests”.
Such issues are surely not insurmountable – but they are certainly not something for policy-makers to ignore, either. Hopefully the National Genomics Board and other policy influencers will continue constructive engagement with the genomics community.