Towards a national genomics medicine service: the challenges facing clinical-research hybrid practices and the case of the 100 000 genomes project

Abstract

Clinical practice and research are governed by distinct rules and regulations and have different approaches to, for example, consent and providing results. However, genomics is an example of where research and clinical practice have become codependent. The 100 000 genomes project (100kGP) is a hybrid venture where a person can obtain a clinical investigation only if he or she agrees to also participate in ongoing research—including research by industry and commercial companies. In this paper, which draws on 20 interviews with professional stakeholders involved in 100kGP, we investigate the ethical issues raised by this project’s hybrid nature. While some interviewees thought the hybrid nature of 100kGP was its vanguard, interviewees identified several tensions around hybrid practice: how to decide who should be able to participate; how to determine whether offering results might unduly influence participation into wide-ranging but often as yet unknown research and how to ensure that patients/families do not develop false expectations about receiving results. These areas require further debate as 100kGP moves into routine healthcare in the form of the national genomic medicine service. To address the tensions identified, we explore the appropriateness of Faden et al.’s framework of ethical obligations for when research and clinical care are completely integrated. We also argue that enabling ongoing transparent and trustworthy communication between patients/families and professionals around the kinds of research that should be permitted in 100kGP will help to understand and ensure that expectations remain realistic. Our paper aims to encourage a focused discussion about these issues and to inform a new ‘social contract’ for research and clinical care in the health service.

A deliberative study of public attitudes towards sharing genomic data within NHS genomic medicine services in England

“…This could have implications for training healthcare professionals to strike the right balance between informing patents and overwhelming them and/or paternalism (Bester et al, 2016;Ha et al, 2018). We also recognise that new developments fundamentally affect the NHS' 'social contract' and thus support wider calls for broader, more critical public conversations about acceptable policies for governing uses of genomic data (Bukowski et al, 2019;Davies, 2017;Dheensa et al, 2018;Samuel and Farsides, 2018). Given ongoing concerns expressed about 'mission creep' and commercial access to health data, these should occur irrespective of technical measures to gather permissions, protect anonymity or secure data.…”

“…Running alongside such scientific and policy developments in genomic medicine has been a rich commentary addressing the ethical, legal and social implications of collecting, using and sharing genomic data (Dheensa et al, 2018; Heeney et al, 2011; Kaye, 2012; Laurie et al, 2010; Shabani and Borry, 2018). Genomic data are both unique to individuals and have a long ‘shelf life’, with test results remaining valid and relevant throughout an individual’s lifetime.…”

“…With whole genome sequencing set to move into routine NHS services, there has been increasing discussion about how these new arrangements could affect the nature of the existing ‘social contract’ between patients, the public and staff that is currently enshrined in the NHS constitution; a document setting out the rights and responsibilities for NHS patients, staff and the public (Bukowski et al, 2019; Davies, 2017; Dheensa et al, 2018).…”

Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study

“…This underlines the importance of the newly formed NHS Genomic Medicine Service focussing on trustworthiness by reflecting on empirical findings, from studies such as ours, and continuing to refine and research the consent process (30). This trust needs to be maintained by ensuring that genomic testing takes place within a system of processes, where patients can be confident that their data will be protected appropriately, and that their preferences will guide the sorts of results that might be looked for (3,31). Part of this process might involve ensuring that patients are not given the illusion of clear-cut choices if these might later be hard to interpret and honour.…”

Alzheimer’s disease and the development of a post-genomic science

“…However, as the case of MCI illustrates, this boundary is increasingly fuzzy in contemporary biomedical practice. This is particularly the case in contexts such as Alzheimer's disease in which the range of therapies "in the clinic" is limited and in which clinical trials are seen as part of the therapeutic landscape, or genomic medicine, in which clinical investigations may be closely linked to research participation (Davis 2017;Dheensa et al 2018;Wienroth, Pearce, and McKevitt, 2019). For Boenink (2018), the diagnostic criteria, and accompanying moves to establish "appropriate use criteria" for biomarker technologies in the clinic, play a dual role.…”