Part of the genomics ethics blog series, Dr Kate Sahan explores genomic medicine’s relationship to research and clinical practice and the implications this has for ethics and governance of data sharing in the CanGene-CanVar Programme.
Much ink has been spilled describing how genomic medicine will transform healthcare, not least in the 2016 Chief Medical Officer’s report ‘Generation Genome’[1]. This argues that for genomics to progress, greater ‘integration and complementarity’ is needed between the institutions of research and clinical practice (Ch16 p5). But what does this really mean and what are the ethical implications of combining two ethically distinct activities?
A gap, hybrid, interface or boundary?
Stakeholders from CanGene-CanVar (CGCV) have described the way in which genomics relates to research and clinical practice differently:
There is said to be a translational gap between genomic research and its application to clinical practice.
Genomics (in common with some other specialisms) is theorised as a hybrid of clinical and research activity, but in practice occupies an ethical ‘no man’s land’ between the two.
genomics operates at the research-clinical ‘interface’, suggesting these activities are strictly demarcated.
those who practise genomics medicine are said to perform ‘boundary work’ between research and clinical practice.
Understanding the different ways in which the relationship between research and practice is described and how genomics medicine fits is important for making the ethics case for expanding genomics data sharing in healthcare. The most important thing these descriptions have in common is the idea that genomic medicine, with its evolving and uncertain evidence base, does not fit straightforwardly into either research or clinical activities without raising ethical dilemmas.
1) The gap
This describes a translational gap between genomic research and its application to clinical practice. This needs filling so that genetic testing and genomics can expand. Prof Clare Turnbull, Programme lead of CanGene-CanVar (CGCV) has given an account of this gap as part of the project’s rationale. On this account CGCV’s activities aim to fill the gap with supportive science and infrastructure elements. These include specialised medical training in genomics, improved data flows, machine learning and, of course, ethical frameworks to support these activities.
2) The hybrid model
The hybrid model combines aspects of research and clinical practice to create a new environment conducive to genomic medicine. This new hybrid environment will meet genomics’ dual needs to use clinical data, but apply it to research-like activities to improve clinical practice. In this year’s CGCV Pan Programme meeting, Prof Anneke Lucassen reiterated the need for this hybrid model (she has also written about it here[2]), which in turn should be supported by appropriately hybridised ethics governance to avoid placing genomic medicine in an ethical no man’s land.
This description is supported by the discourse around the learning healthcare system (LHS) (originating with Faden and colleagues[3]; recently discussed by the Nuffield Trust with respect to the NHS[4]). The idea of a LHS also challenges the silo-ing of research and clinical practice in favour of a combined approach of continuous learning for a just, high quality and (economically) beneficial care system. The hybrid approach not only benefits science but also addresses oversight burdens in research ethics governance, which may put off clinicians from conducting research-like activities in the clinical space. Even so, under the new system, governance of all ‘learning’ activities should be sufficiently robust for the system’s ethics to be upheld.
3) The research-clinical interface
Also at the 2021 Pan Programme meeting, Dr Ellen Thomas from Genomics England described how genomics operates at a research-clinical interface within the National Genomic Research Library[5]. This is also reflected in the use of a dual research-clinic consent form for genomic sequencing in the NHS which informs patients about how their genomic data is used in the clinic and also offers them the opportunity to submit their data to the research library. Nevertheless, she reported that the current interface arrangement creates conflicting aims in the consent process. One example of such a conflict is trying to maintain diagnostic test pathways (and timelines) while providing sufficient time for patients to consider research participation.
4) Boundary work
Ethics lead for CGCV, Prof Nina Hallowell has referred to some clinicians practising cancer genetics as engaging in a form of ‘boundary work’ i.e. maintaining symbolic and actual boundaries between research and clinical practice to manage ‘what they experience as a conflict of interest generated by the different [clinical and research] roles they occupy’[6] (Abstract). This rehearses a long standing debate in research ethics about whether clinical researchers can or should jettison the distinction between research and ‘treatment’ without compromising their ethics (see Brody H & Miller FG[7] among others). Applied to genomic medicine this debate is particularly interesting because it is a ‘prime example of a translational subspecialty… with a fast-developing evidence base in which research findings are constantly been implemented within clinical practice and clinic activities are frequently undertaken for research purposes’[8].
Filling the gap or working the boundary? What is going on in genomic medicine?
These four ways of looking at the place of genomic medicine can be split into two camps: those who argue for reforming the ways in which research and clinical practice relate to each other, and those who want maintain or work with the traditional distinctions between research and clinical care. These two approaches have different implications for ethics and governance.
The gap model expresses how far there is to go and how much needs reforming in the roll out of genomics medicine and data sharing. In comparison with the hybrid and interface descriptions, it proposes more radical changes to the existing institutions of research and clinical practice to further its aims. The hybrid suggests something new can be (re)formed out of the existing institutions. But this may be over simplistic given the struggles described by the interface and boundary work descriptions. (In another blog I will examine whether genomics data sharing is so very different from sharing data in medical practice in general.) Nevertheless, the LHS discourse – to which the hybrid description attaches persuasively – continues to gain ground. This may be an expedient way for genomics to operate in the medium to long term, though the published ethics and governance framework for the LHS is ambitious[9]. However, in the short term the interface and the boundary work descriptions can be seen as important reminders of the challenges in moving to a more integrated, hybridised environment. The interface description reflects current systems level and individual level (consent example) practical and ethical challenges in navigating between institutions. The boundary work description goes further, suggesting that genetics practitioners may prefer that elements of existing institutions be kept separate in order to negotiate different ethical obligations.
Implications for ethics and governance of genomics data sharing in CGCV
The differences between these descriptions of genomic medicine’s relationship to the institutions of research and clinical practice are meaningful. They suggest that even if top level structures and systems in these institutions merit integration and complementarity, lower levels – such as the physical space to hold research and clinical activities – may not. Some separation of research versus clinical practice at the ‘grass roots’ level of the individual clinic or patient encounter also seems psychologically consistent with geneticists’ professional ethics and differing duties towards the patient in front of them. Yet maintaining such a separation may be increasingly difficult as the top levels integrate leading perhaps to further conflicts of interest which will need sensitive management. This has implications in general for CGCV and in particular for its Medical Education WP which seeks to support the workforce in taking forward the expansions arising from its data sharing advances.
About the Author
Dr Kate Sahan is a Research Fellow in the Ethical and Social Implications of the Clinical Use of Genomic Risk in Cancer Care. She studied for a DPhil in Population Health at the Ethox Centre from 2016-19. In 2019-20 Kate was a postdoctoral researcher at Erasmus Universiteit, Rotterdam where she explored the global challenges of implementing Responsible Research and Innovation policy.
Kate’s research interests include: the ethics of emergency research governance; ethics of decision-making in research more generally including how ethics policy translates to practical and cultural change for individuals and institutions; and population health ethics, most recently focusing on the challenges and opportunities genomic medicine brings to improving cancer patient care through CanGene-CanVar.
[1] Chief Medical Officer annual report 2016: generation genome https://www.gov.uk/government/publications/chief-medical-officer-annual-report-2016-generation-genome [2] Horton R, Lucassen A. Genomic testing in healthcare: a hybrid space where clinical practice and research need to co-exist. Expert Rev Mol Diagn 2019;19(11):963–7.doi:10.1080/14737159.2019.1672540 [3] Faden RR, Kass NE, Goodman SN, Pronovost P, Tunis S, Beauchamp TL. An ethics framework for a learning health care system: a departure from traditional research ethics and clinical ethics. Hastings Cent Rep. 2013 Jan-Feb;Spec No:S16-27. doi: 10.1002/hast.134. PMID: 23315888. [4] Scobie S & Castle-Clark S What can the NHS learn from learning health systems? https://www.nuffieldtrust.org.uk/research/what-can-the-nhs-learn-from-learning-health-systems [5] https://www.genomicsengland.co.uk/national-genomic-research-library/ [6] Hallowell N, Cooke S, Crawford G, Lucassen A, Parker M. Distinguishing research from clinical care in cancer genetics: theoretical justifications and practical strategies. Soc Sci Med. 2009 Jun;68(11):2010-7. doi: 10.1016/j.socscimed.2009.03.010. Epub 2009 Apr 5. PMID: 19346047. [7] Brody H, Miller FG. The research-clinical practice distinction, learning health systems, and relationships. Hastings Cent Rep. 2013 Sep-Oct;43(5):41-7. doi: 10.1002/hast.199. PMID: 24092591. [8] See footnote 6 above p2014 [9] See footnote 3 above