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Paid-for NHS genomic testing could undermine the 100,000 Genomes Project's work

18 February 2019
By Professor Bobbie Farsides
Professor of clinical and biomedical ethics, Brighton and Sussex Medical School
Appeared in BioNews 987

Few people can fail to have noticed the response to UK health secretary Matt Hancock's plans to allow healthy people to pay for NHS genomic testing on the understanding that they will agree to share their results for the purposes of research (see BioNews 985) – a plan which now sits alongside earlier statements relating to children with cancer automatically qualifying for whole genome sequencing (see BioNews 982). While both might be seen as evidence of a commitment to make genomics 'part of core NHS business' and 'usual not unusual' (two aspirations previously set in the context of organ donation) the idea of paid-for genomic testing has raised concerns.

In her capacity as chair of the British Society for Genomic Medicine, my research collaborator Professor Anneke Lucassen had a busy weekend fielding enquiries and was subsequently cited by several media sources. While committed to improving the care of patients and supportive of the idea of expanding the collection of genomic data to create a valuable research resource, Professor Lucassen was clearly worried about managing expectations in the clinical setting, stressing the complexities involved in interpreting an individual person's results in the absence of prior clinical findings and providing information that they will find helpful.

She wrote on Twitter: 'Each of us has [about] half a million rare variants, most of which will not clearly predict the future. Our knowledge is skewed because thus far variants have been found in those with clinical findings. Turn it around and you don't have the other (unknown) contextual factors[.]'

Reflecting on the response of other experienced clinicians one is minded to wonder whether presenting this possibility to the population requires something akin to the careful balance required of those working in an experimental setting rather than the sales pitch or hype which can too easily accompany transformational projects.

Professor Lucassen and others were also keen to consider the extent to which the proposed service strikes at the basic founding principles of the NHS – a publicly funded service which has historically offered care based on need and free at the point of delivery. The introduction of a direct payment and the separation of the service from a clearly defined clinical or public health need could be seen to erode the values that many health care professionals hold dear.

No details have yet been given about the cost to consumer of such a service, but clearly a realistic pricing system would mean that some people will be priced out of the service, that others might have to make sacrifices and possibly forgo goods and services that would contribute much more directly to their health, and yet others would be left wondering whether this is something they ought to do irrespective of cost because it is being endorsed by those charged with securing the health of the nation.

The reality of a stretched service means that many people are already feeling the need to pay for interventions outside the NHS. They reach into their bank accounts to access services they would not otherwise be offered such as fertility treatment, to avoid lengthy waiting times, to secure better quality medical devices and in some cases to access life-prolonging treatments. This is already concerning and disruptive of traditional relationships between NHS staff and their patients, particularly when what is on offer at a cost is not necessarily what the experts feel best serves the patient's interests.

We must surely worry about the emergence of a two-tier systems in areas of health care where personally subsidising what is on offer becomes a ready default. This is clearly an issue of distributive justice when we make a perceived benefit available at a cost to those who can afford it and/or know how to value it.

Bringing these points together Professor Lucassen pulled no punches by asking on Twitter: '[W]hy sell with so little evidence [and] when NHS thus far has been free at point of delivery...?'

Making reference to a system under pressure raises further concern about the impact of thousands of ostensibly healthy people accessing their genomic data. There is already anecdotal evidence of people presenting to their GPs or specialist doctors with information gleaned from direct-to-consumer testing offered by private companies such as 23andMe.

Clearly if people purchase a service through the NHS it is predictable that they will expect some level of follow-on or follow-up when they receive their results. This could realistically lead to practitioners who have neither the time nor the expertise having to decide how to respond for requests for interpretation of genomic data that is as likely to produce uncertainty and complexity as it is to generate information clearly relevant to the patient's current health state.

It is not unrealistic to assume that the GP will be the first port of call placing further pressure on the system and requiring hard-pressed practitioners to deal with a potentially difficult consultation. One can hear the anxiety in the words of the chair of the Royal College of GPs, Professor Helen Stokes-Lampard, as quoted in The Times: 'We are talking about very sensitive personal data that needs to be understood and used responsibly, and it raises a lot of ethical issues. A lot of things that will be picked up by genetic testing will be unimportant or of dubious value.'

Finally, and very pragmatically it is worth considering that the trumpeted success of the 100,000 Genome Project had a lot to do with the fact that it was clearly seen as linked to the infrastructure and values of the NHS, albeit in a novel way. If this area of medicine becomes detached from the basic principles of the NHS the 'trust by association' factor might well diminish and this could lead to a resurgence of concern around the storage and use of medical data – an issue about which Genomics England has worked very hard to reassure people.

If the goal is to build a genomic resource for the benefit of this and future generations, people will need to feel confident of its security, its future and its ethical governance. It would be a tragedy if hasty commercialisation of an element of the service led to an undermining of the confidence in the genomic and bio-banking agenda more widely.

So how to respond without appearing dismissive of what many see as a major plank of NHS strategy going forward – the mainstreaming of genomics? Clearly it is important not to throw they baby out with the bath water – by challenging the provision of a paid-for service through the NHS to healthy citizens entails critiquing we question a very specific proposal and this does not mean that we necessarily question the ends or goals associated with the wider genomic project.

However, we know through our own work that there is a great deal that needs to be done to ensure that NHS practitioners feel technically, and as importantly, ethically prepared to offer a mainstream service. It would seem sensible to bed this in before considering as radical a proposal as the one before us now.

Professors Bobbie Farsides and Anneke Lucassen are co-principal investigators on the Wellcome Trust funded collaborative award project Ethical Preparedness in Genomic Medicine (EPPigen). They are also members of the Genomics England Ethics Advisory Committee.

The next event in the Genomics Conversation programme - which involves the public and stakeholders in discussions about key issues in genomic medicine - will be 'Talking Genomics with Patients', taking place in Birmingham on the evening of Tuesday 5 March.

This event is being produced by the Progress Educational Trust, in partnership with Health Education England and its Genomics Education Programme. Attendance is free - see here for details.

29 July 2019 - by Jen Willows 
Two new government publications reveal that plans to charge healthy volunteers for NHS genome sequencing have been scrapped...
22 July 2019 - by Shaoni Bhattacharya 
Geneticists in the UK have been speaking out against direct-to-consumer DNA testing after concerns over false positive results...
1 July 2019 - by Dr Jess Buxton 
The past few years have seen a huge increase in the identification of rare and common genetic variants associated with disease, advances made possible through ever cheaper and faster genome sequencing technologies...
25 March 2019 - by Martha Henriques 
Matt Hancock, secretary of state for health, has been widely criticised by scientists and doctors for misconstruing the results of a genetic test that he took...
4 March 2019 - by Jayne Spink 
In January, Matt Hancock, secretary of state for health and social care, revealed that Genomics England planned to develop a direct-to-consumer service for whole-genome sequencing, with provision for customers to donate their data for research purposes.
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