The ELSI of Engagement: Benefits and Challenges to Achieving a Just Genomics

“Engagement” – the practice of involving non-scientists in the design and conduct of research – is a widely referenced concept in health research broadly, and in clinical genomics research specifically. Community engagement has been identified as a key strategy for incorporating the perspectives of racially and ethnically diverse communities in precision medicine research. Patient (and family) engagement is commonly employed in research on rare genetic diseases, and particularly in therapeutic development, with the goals of increasing recruitment and ensuring inclusion of relevant outcomes, among others. Other forms, such as stakeholder engagement and public engagement, also have been referenced as tools for advancing not only research quality and relevance, but also equity and justice in clinical genomics research.
The concept of engagement has historical roots in social justice movements around the world, and different engagement approaches share a common focus on shifting research from an “ivory-tower” activity to one grounded in the social realities of patients and communities. Engagement arguably has intrinsic value insomuch as it promotes fundamental ethical principles related to research, including social value, transparency, and justice. In addition, proponents of engagement have argued for its instrumental value based on its potential to ensure study relevance to real-world problems, increase participant enrollment and retention, support the use of patient-centered outcomes, facilitate dissemination of results, and increase trust in science.
However, fundamental elements of engagement – including who is engaged, the goals of engagement and scope of engagement activities – remain poorly defined. Without clear standards, engagement practices are prone to wide variation, resulting in a lack of empirical evidence of the often-cited “benefits” of engagement. Indeed, there is evidence that much engagement may constitute only tokenistic activities with little substantive impact, and that such efforts may even result in unintended consequences (e.g., reduced instead of increased trust). In addition, while different engagement approaches may share fundamental principles, in practice these different approaches may not align in the goals and perspectives they seek to incorporate, with concomitant ethical implications. For example, without explicit attention to diversity of perspectives, “patient engagement” may shift the focus of research away from concerns of other stakeholders, or of specific communities already experiencing health disparities. The increasing breadth of the roles of patients and communities in research raises multiple ethical challenges related to conflicts of interest within patient communities and challenges of achieving representative engagement.
In this panel, we bring together thought partners from diverse personal and professional backgrounds to constructively explore how the concept and practice of engagement is and should be employed in clinical genomics research. A political theorist will provide an overview of key normative and policy challenges in patient and community engagement. Two anthropologists will provide empirical data on ethical challenges arising in contextually diverse case studies of engagement in clinical genomics research. A rare disease patient organization representative will share their perspective on the benefits and challenges of engagement. A moderator will lead a discussion of cross-cutting themes and practical approaches to addressing the complexities of engagement in clinical genomics research.

Authors: Matthew McCoy, University of Pennsylvania; Meghan Halley, Stanford Center for Biomedical Ethics; Chelsey Carter, Yale University; Ryan Fischer, Foundation for Angelman Syndrome Therapeutics; Daphne Martschenko, Stanford Center for Biomedical Ethics