What research ethics should learn from genomics and society research: lessons from the ELSI Congress of 2011.

In much the same way that genomic technologies are changing the complexion of biomedical research, the issues they generate are changing the agenda of IRBs and research ethics. Many of the biggest challenges facing traditional research ethics today — privacy and confidentiality of research subjects; ownership, control, and sharing of research data; return of results and incidental findings; the relevance of group interests and harms; the scope of informed consent; and the relative importance of the therapeutic misconception — have become important policy issues over the last 20 years because of the ways they have been magnified by genomic research efforts. Research that examines the ethical, legal, and social implications (ELSI) of human genomics research has become a burgeoning international field of scholarship over the last 20 years, thanks in part to its support first by the genome research funding bodies in the U.S. and then by national science agencies in other countries. A large part of the intellectual effort in this field has been devoted to identifying, highlighting, and analyzing critical issues in genomic research as it moves through the translational process. Given the prominence of these issues in today’s debates over the state of research ethics overall, these studies are well positioned to contribute important data, contextual considerations, and policy arguments to the wider research ethics community’s deliberations, and ultimately to develop a research ethics that can help guide biomedicine’s future. In this essay, we illustrate this thesis through an analytic summary of the research presented at the 2011 ELSI Congress, an international meeting of genomics and society researchers. The Congress1 was supported by the National Human Genome Research Institute (NHGRI), and hosted by the Center for Genomics and Society at the University of North Carolina at Chapel Hill, one of six Centers of Excellence in ELSI Research.2 It was the third such conference since the ELSI program was established in 1990.3 Featuring current and recent ELSI research, the Congress provided a slice-of-time perspective through which to consider a set of pivotal factors that characterize genomic research today, and that promise to increase in significance as genomic research and practice continue to evolve. ELSI Congress announcements to recruit paper and panel submissions were sent to multiple national and international scholars, organizations, and institutions in the fall of 2010. Themes were defined broadly. Applicants were asked to consider how ELSI research has expanded since 2008, and how it has changed through links to other sciences and disciplines, increased specialization, and internationalization. In October 2010, an international planning committee4 was formed to review submissions and develop the Congress agenda. Based on their particular expertise, committee members were assigned in groups to conduct reviews, using criteria of relevance, clarity, significance, and originality. A total of 35 Congress sessions were scheduled: 18 panels and 17 themed sessions, comprising 79 papers overall. The Congress also featured invited plenary speakers and workshops, but we focus here on the submitted research, as it offers a unique opportunity to inductively assess the state of the field in ELSI research and to offer insights about research ethics that are drawn from a wide variety of presentations. Drawing on submitted abstracts, presentation slides, notes taken during each session by volunteer rapporteurs,5 and the ELSI issues generated by advances in genomic research,6 we identify three pivotal factors currently shaping genomic research, its clinical translation, and its societal implications — each of which, in addition, represents contested concepts in research ethics generally, and lessons for contemporary issues in research ethics. These factors are: (1) the increasingly blurred boundary between research and treatment; (2) uncertainty — that is, the indefinite, indeterminate, and incomplete nature of much genomic information and the challenges that arise from making meaning and use of it; and (3) the role of negotiations between multiple scientific and non-scientific stakeholders in setting the priorities for and direction of biomedical research, as it is increasingly conducted “in the public square.” In our discussion, we refer to individual and panel presentations from the Congress with letters and numbers corresponding to the listing in the Appendix, and the names of first authors when individual presentations in a session are cited. Additional information about Congress presentations is available upon request.