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Why a two-tier system for genomic testing is a bad idea

4 March 2019
By Jayne Spink
Chief Executive of Genetic Alliance UK
Appeared in BioNews 989

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.

Many critics of the proposed service have contrasted patients who receive genomic testing on the NHS because they are 'seriously ill' with 'healthy consumers' focused on identifying multifactorial health risks and reducing their risk of developing disease in the future. This binary classification is unhelpful in framing the ensuing debate and fails to recognise the reality of the health continuum that exists among our population. The presumption that the sole consumers of this direct service will be 'well' individuals seeking to tweak their lifestyle and maximise health and longevity is naive.

No details of the proposed direct-to-consumer service have yet been released. We have no information regarding the extent or nature of the reports that will be returned to the customer, or indeed whether the whole sequence will be returned for use and analysis as the customer sees fit. We do not know how actionable or significant findings will be communicated and followed up in terms of healthcare and counselling. Similarly, we are yet to discover how inherent uncertainties in relation to the predictive power of findings will be communicated to consumers.

Genetic Alliance UK does not take issue with the donation, storage and analysis of genomic data for clinical or research purposes, and our work has shown that rare disease patients and the rare disease community overwhelmingly support sharing and use of genetic data for the common good. We are satisfied with the processes and safeguards that Genomics England and the NHS have put in place.

There are more than 6000 rare conditions, about 80 percent of which have a known genetic cause, yet most rare disease patients currently have a clinical rather than a genetic diagnosis. This restricted access to genetic information limits choices, including treatment and reproductive options and serves as a rate-limiter for progressing research. A genetic diagnosis is therefore predominantly regarded as a valuable commodity.

Diagnosis can take a long time for rare conditions: on average a rare disease patient waits four years for a correct diagnosis receiving three incorrect diagnoses en route. Genetic Alliance UK frequently receives queries from individuals who either wish to accelerate or secure access to genetic testing. Part of the promise of whole-genome sequencing lies in its ability to speed up the diagnostic odyssey, bringing early and definitive diagnosis - and therefore access to greater choice and the most appropriate care and treatment available.

One fundamental problem with the proposed service is that this direct-to-consumer test could return results of clinical utility, with potential to offer diagnoses for hitherto unrecognised or undiagnosed disease only to those able to pay.

Genomics England is not part of the NHS, but in terms of public perception the two are synonymous - in relation to genomic testing and the implications for the health service they may as well be a single entity. This inextricable link is the crux of the matter. The fundamental principle upon which the NHS is founded is that its services should be equitably and freely available at point of need. Whole-genome sequencing will not for the foreseeable future be available on the NHS to every individual who might benefit from it.

Consider, for example, the rare disease patient midstream in a diagnostic odyssey, the child with complex needs who is not critically ill, the patient with a rare disease of likely (but unconfirmed) genetic origin. Such individuals and families might consider purchasing a whole genome a highly desirable option. On doing so they face three possible outcomes: a clear and definitive genetic diagnosis that may short-circuit access to counselling care and treatment; no definitive findings generating the potential for misunderstanding or false assurance; or finally, the return of clinically significant findings unrelated to the patient's rare disease, again short-circuiting the healthcare system. 

All scenarios underline the complexity inherent in the plan to purchase the test, particularly for those affected by rare diseases, as well as the need for support in understanding results, and underline the inevitable pressure the service may place on the NHS.

In fact, it is difficult to imagine how this consumer service might be constructed so as to protect NHS staff and services from increasing demand driven through the introduction of a two-tier system. So, why then this plan to introduce a direct-to-consumer whole genome sequencing service via Genomics England?

We might speculate that the potential to derive revenue is an attraction. Perhaps a more significant driver is the need to deliver the ambition to collect genetic data from five million individuals. Whatever the motivation, it may prove difficult to design a viable and deliverable direct-to-consumer service that addresses the broad concerns that clinicians and patients are already voicing.

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

Attendance is free - see here for details, and email to book your free place.

17 August 2020 - by Dr Valerie Shaikly 
'People think if we do a genetic test, we can look for everything and if it comes back as a normal test, then everything will be healthy', says Jill Fischer...
29 July 2019 - by Jen Willows 
Two new government publications reveal that plans to charge healthy volunteers for NHS genome sequencing have been scrapped...
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...
11 March 2019 - by Jemma Walker and Jo Salter 
As part of the annual Genomics Conversation Week of Action, the Progress Educational Trust teamed up with Health Education England's Genomics Education Programme for an event entitled 'Talking Genomics with Patients'...
18 February 2019 - by Professor Bobbie Farsides 
Few people can fail to have noticed the response to 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 – a plan which now sits alongside earlier statements relating to children with cancer automatically qualifying for whole genome sequencing...
4 February 2019 - by Julianna Photopoulos 
The UK's health secretary Matt Hancock has announced that the NHS is considering offering healthy people the opportunity to pay to have their genomes sequenced...
10 December 2018 - by Shaoni Bhattacharya 
The UK reached its goal of sequencing 100,000 patient genomes last week...
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