ELSI Research and Genetics: A Co-Evolution

In April 2011, the Center for Genomics and Society at the University of North Carolina-Chapel Hill hosted a conference entitled “Exploring the ELSI Universe.” ¹ Although “ELSI,” the acronym for “ethical, legal, and social implications” used primarily in the US, does not spell out the source of these implications, such specification is now unnecessary. ELSI has taken on a life of its own that can be understood in terms of its origins in the Human Genome Project twenty-one years ago, as well as its generalization to any biologically-related science or technology. ELSI has inspired similar research programs, including GE³LS (Genomics-Related Ethical, Environmental, Economic, Legal and Social Research) in Canada and ELSA (Ethical, Legal and Social Aspects of the Life Sciences and Technology) in the EU. The organizers of this conference redefined the acronym in ways that reflect the evolution of the concept: Expanding, Linking, Specializing, and Internationalizing. Expanding—how has ELSI research expanded? Linking—how does ELSI relate to other areas of science and technology? Specializing—which areas of ELSI research would benefit from a deeper focus? Internationalizing—how should ELSI address global and local issues?

This issue of AJOB Primary Research reports some of the work presented at this conference and reflects the maturation of ELSI as a field as well as the maturation of genetic research.

Trinidad and colleagues (2012) and Brothers and Clayton (2012) both study the time-honored issue of informed consent for genomic research. However, these studies represent a shift from ELSI research operating independently from the scientific or clinical context and toward a concurrent and coordinated approach in which ELSI research is more proactively targeted at answering specific policy questions raised by research projects or their clinical applications. This approach requires close collaboration with scientific researchers for logistical coordination and to assure that the ELSI studies are relevant and conceptually on target. These studies, the results of which were both obtained from participants in health care settings, suggest different conclusions. This illustrates the maturation of the field in that they invite further nuanced examination of the effects of differences in research questions, methods, and study samples. These studies also reflect the changing nature of genetic research over the last two decades and how ELSI research has had to adapt to stay relevant. Genetic research is now genomic and now occurs in health care settings, demanding changes in the way we think about its implications.

Similarly, Barlevy and colleagues (2012) provide an example of a genetic condition, Long QT Syndrome, which challenges the assumptions of the disability critique that brought disability rights into the ELSI conversation. A major argument of the critique is that disabilities are not inconsistent with a worthwhile life and that the burdens of disabilities are often exaggerated. This study expands inquiry relevant to the disability critique to include conditions for which new genetic tests are available and that have different characteristics from those examined previously. The study illustrates how applying an interdisciplinary gaze to genetic discoveries can lead to reexamination and a more nuanced application of ELSI concepts.

Harrison and colleagues (2012) provide another example of an interdisciplinary collaboration to study public understanding of and attitudes toward the applications of genetic research, this time in the context of probiotics and genetic modification of bacteria. The study takes an empirical approach but uses it to reveal the normative content in everyday language about genetics. This represents the development of robust collaboration between disciplines in ELSI research and an evolution from multi-disciplinarity to inter-disciplinarity and transdisciplinarity.

McCormick and colleagues (2012) highlight a new institutional structure whose development was supported by the growth of an “ELSI community”—the research ethics consultation service. This study uses empirical methods typical of ELSI research to elicit attitudes and beliefs of life scientists about the meaning of “ethical and societal implications” and draws conclusions for ethics consultation and research ethics education. When people talk about “the ELSI community,” they often mean the group of researchers who have been funded by the ELSI Research Program in the US, as part of the National Human Genome Research Institute (NHGRI) extramural research arm. However, Morrissey and Walker (2012) show that this community is much bigger than that. The NIH-funded research tends to be empirical, rather than normative or conceptual, and the effect of NHGRI's research agenda is reflected in the publication record. The breadth of the ELSI research community is to be celebrated, but the relationship between ELSI researchers, funders, life scientists, and health care institutions must continually be critically analyzed to maintain the integrity of ELSI research.

Notes

http://genomics.unc.edu/genomicsandsociety/html/elsi_congress.html