Genomic health data generation in the UK: a 360 view

Abstract

In the UK, genomic health data is being generated in three major contexts: the healthcare system (based on clinical indication), in large scale research programmes, and for purchasers of direct-to-consumer genetic tests. The recently delivered hybrid clinical/research programme, 100,000 Genomes Project set the scene for a new Genomic Medicine Service, through which the National Health Service aims to deliver consistent and equitable care informed by genomics, while providing data to inform academic and industry research and development. In parallel, a large scale research study, Our Future Health, has UK Government and Industry investment and aims to recruit 5 million volunteers to support research intended to improve early detection, risk stratification, and early intervention for chronic diseases. To explore how current models of genomic health data generation intersect, and to understand clinical, ethical, legal, policy and social issues arising from this intersection, we conducted a series of five multidisciplinary panel discussions attended by 28 invited stakeholders. Meetings were recorded and transcribed. We present a summary of issues identified: genomic test attributes; reasons for generating genomic health data; individuals’ motivation to seek genomic data; health service impacts; role of genetic counseling; equity; data uses and security; consent; governance and regulation. We conclude with some suggestions for policy consideration.

Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services

“…Population genomic screening and the return of health risk information outside the context of manifest disease is increasing in clinical and research settings, for example, the on‐going UK 100000 Genomes Project additional findings programme, Our future health, and all of us in the United States 65 . These initiatives will contribute data about genetic associations with disease, and could identify people who might benefit from early medical intervention who would not have come to clinical attention through traditional pathways.…”

“…HCPs, patient representatives, and DTC‐GT providers acknowledge that regulation of DTC‐GT is required to protect consumers, ensure safety and efficacy, and mitigate potential harm to healthcare services in specific healthcare delivery models 65 . Increasing use of TPI from health and ancestry DTC‐GT products will increase the frequency of false‐positive results, and regulation should consider TPI and ever‐evolving DTC‐GT products on stakeholders, including public healthcare systems.…”

Patients’ and Members of the Public’s Wishes Regarding Transparency in the Context of Secondary Use of Health Data: Scoping Review

“…Some stated that the need for education extended to all stakeholders, including patients, research participants, and researchers. Clinicians were also targeted for education on how to integrate genomics into clinical care [40,55,137] and training in information technologies [120]. Members of the public and research participants highlighted the value of [31,83] communicating positive messages about how data are used: 'promoting the success stories', And I can see an advantage in updates because I think it creates a positive view of things, a positive view while there's so much bad information.…”

Éléments fondamentaux des documents de consentement à participer à la recherche sur le génome humain au Canada et de la Bibliothèque génomique humaine pancanadienne : orientation pour l’établissement de politiques

“…De juin 2019 à décembre 2021, le groupe de rédaction a procédé à des interrogations de la littérature scientifique (y compris de la littérature grise) pour recenser les documents relatifs aux politiques, aux documents de consentement et à la gestion de la recherche en génomique, ainsi que d'autres publications connexes. En plus des documents de consentement mentionnés précédemment, des publications clés, des politiques et d'autres documents connexes ont été présentés au groupe de travail 7,[9][10][11]13,21,[27][28][29] , ainsi que des documents liés au consentement et à la gestion identifiés lors des interrogations 6,9,[24][25][26]30 . Le travail réalisé sous l'égide du groupe responsable de la réglementation et de la déontologie à l'Alliance mondiale pour la génomique et la santé (GA4GH) a aussi été mis à contribution lors de l'élaboration de la présente ligne directrice 10,30 qui décrit les principes fondateurs, les codes et les conventions en plus des exigences de conformité aux politiques et à la réglementation.…”