Authors: Gabrielle Samuel, Sandi Dheensa, Anneke Lucassen, Bobbie Farsides
Paper: Towards a national genomics medicine service: the challenges facing clinical-research hybrid practices and the case of the 100 000 genomes project [OPEN ACCESS]
The Chief Medical Officers’ 2017 report Generation Genome calls for a move towards integrated research and clinical practice in genomic medicine (i.e., research-clinical ‘hybrid’ medicine), spring-boarded by the 100,000 genomes project (100kGP). Our research, which has explored aspects of 100kGP, suggests that more integration of clinical and research practice is an exciting vision with the potential to bring a range of patient benefits both now and in the future. It also suggests that issues associated with moving towards hybrid medicine makes it timely to consider a suitable ethical framework and oversight mechanism for governing this practice.
To summarise 100kGP, this venture is recruiting National Health Service (NHS) patients with a rare disease or cancer to (a) analyse their genomes for possible confirmation of a clinical diagnosis, and (b) to concomitantly store their genome sequences and health data in a biorepository for future research. In this way, the project is laying the foundation for a national genomic medicine service in which genome sequencing will become both routine NHS diagnostic practice and feed into longer-term research studies.
When we spoke to people working at, or associated with Genomics England – the company delivering the genomes project, they were enthusiastic about 100kGP’s research-clinical hybridity. In fact, they viewed it as the venture’s ultimate ‘legacy’, and perceived this would be the lasting effect of the project after its implementation into NHS genomic medicine. Having said this, the people we spoke to also talked about how they’ve needed to contemplate the various complexities associated with delivering the hybrid project—in particular, they highlighted a range of ethical challenges.
Many of these ethical challenges echoed those previously discussed in the literature, and included how clinicians can manage both their clinical and researcher professional obligations when explaining the project to patients during the consent process; how to best ensure that the project’s hybrid nature wouldn’t affect how patients understand 100kGP’s purpose and rationale; and how to ensure this doesn’t lead to patients having false expectations about the possibility of receiving a clinical benefit. In terms of the latter, for example, they worried about how to ensure that participating families would understand that they personally may not benefit because in instances where there has been no clinical diagnosis, any future research – which is still unknown with regards to what path it may take – may end up being unrelated to their present condition.
Our interviewees’ concerns highlight their difficulties with trying to resolve specific issues related to hybrid practice in a culture where the ethical obligations around, and expectations of, research versus clinical practice, as well as the governance mechanisms over the two, are viewed as distinct and separate.
Here we refer to the ‘learning healthcare system’ —a system in which research and clinical practice are completely integrated by “building knowledge development and application into each stage of the healthcare delivery process”. Professors Ruth Faden and Nancy Kass have identified seven ethical obligations within this system that make the distinction between research and clinical practice irrelevant, and they call for these obligations to be placed not just on clinicians, but also on researchers, patients, commissioners, among others. Over the past decade, there have been discussions about what such a system would look like in the USA, and more recently, such discussions have taken off in the UK and elsewhere. We believe that parallels exist between the explicitly hybrid 100kGP/genomic medicine service and this system. In our paper, we explore whether and how these obligations could offer a normative guide for solving some of the ethical tensions that 100kGP and the genomic medicine service raise, and that were spoken about by our interviewees.
As planned, 100kGP will end this year, with its hybrid legacy being continued by NHS England. Here it is essential that we don’t lose sight of the ethical issues hybrid activity poses, but rather we ensure that they continue to be discussed and eventually developed into ethical policy. Overall, we suggest the best way forward for NHS England is to embrace the messiness and blurred boundaries between research and clinical practice, to move away from them having separate obligations, and a move towards a new framework of ethical obligations that is common to both, such as that proposed by Faden and colleagues, or something similar.
A crucial question we did not tackle in our paper is how any hybrid activity should be overseen—e.g., by a body like a Research Ethics Committees, the General Medical Council, or something similar. Faden et al point out that “different operational criteria for determining which activities should be subject to oversight policies… will need watchful development.” We agree that further thinking is required about this in the genomic setting and we hope to raise debate about this issue, and others, with our work.
Competing financial interests None declared.
- Anneke Lucassen and Bobbie Farsides are members of the Ethics Advisory Board of the 100, 000 Genomes Project
Ethics approval Ethics approval was received from Brighton and Sussex Medical School Research Governance and Ethics Committee: 16/014/FAR.