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 co-dependent. The 100,000 genomes project (100kGP) is a hybrid venture where a person can obtain a clinical investigation only if they agree 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. We explore the appropriateness of Faden et al.’s framework of ethical obligations for when research and clinical care are completely integrated, for addressing the tensions identified. We also argue that enabling on-going transparent and trustworthy communication between patients/families and professionals around the kinds of research that should be permitted in 100kGP will help understanding and ensure 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.