What is ELSI Research?

“People sometimes forget that the Human Genome Project was planned and funded by both the National Institutes of Health and the Department of Energy. The two organizations established the ELSI Joint Working Group to coordinate their research portfolios and policy initiatives concerning the ethical, legal, and social implications of human genetics (ELSI). And, yes, at the time we spoke about human genetics, rather than genomics, because the genome had not yet been sequenced and high-throughput bioscience was not yet the norm! The Joint Working Group was chaired by major figures in ethics and genetics, including Troy Duster and Nancy Wexler, and was composed of leading bioethicists and early ELSI grantees. I was privileged to staff the Joint Working Group during the early 1990s. It initiated forward-looking policy discussions and reports, such as a report on what could and should happen with health insurance if predictive genetic testing became a reality. Some concerns raised by the Joint Working Group and ELSI scholars of the 1990s did not materialize. Some bad outcomes may have been averted, in part, because of work by ELSI scholars. But other concerns remain with us. In particular, we are still trying to understand and ameliorate injustice in genomics, and we need continuing vigilance to move genomic science and medicine forward without breathing new life into mythologies about inherent racial inequality.„

“ELSI research applies the broadest possible scholarly lens to critical questions raised by the application of genetic and genomic technology. From the beginning, it has provided empirical data and interpretation of how research scientists, patients and the public understand genetic data and its uses, for improving practice and knowledge, and for personal and public health purposes. ELSI questions have become more complex, involving a wider range of disciplinary expertise, and modes of study – both apart from and integrated into genomic work. This has been facilitated by ELSI Centers at US universities, tasked with producing “the next generation of ELSI researchers,” many of whom are trained in multiple disciplines themselves—thus creating models for true transdisciplinary research.„

“When a Human Genome Initiative, as it was then known, was proposed in the late 1980s Congress held hearings. On 27 April 1988 I provided invited testimony to the Subcommittee on Oversight and Investigations of the Committee on Energy and Commerce House of Representatives. As I recall, the Representatives had two primary concerns: Would Japan steal the genome? (Inspired I suspect by Japan’s dominance in VHS manufacturing) And the ethical implications likely to flow from learning our genetic code. In my testimony I tried to allay their mistaken concerns and to focus instead on the coming avalanche of genetic information. I also suggested that Congress could devote a small percentage of its genome funding to anticipating and understanding the ethical, legal and social issues that would emerge. Rather than being merely the person carrying a shovel following the elephant in the circus parade cleaning up the mess, ELSI scholars could walk alongside the elephant, nudging it away from danger.

As I recall the early days of the ELSI Working Group, we did a great deal of listening to people’s concerns. One consequence of that was the Task Force on Genetic Information and Insurance and its prescient report on genetic discrimination in health insurance, along with decades of scholarship on genetic exceptionalism.„

“Creating a program to study the social, legal and ethical implications of a new scientific initiative was a path-breaking policy innovation in 1989. The idea has caught on, more outside the United States than in it. The main benefit has been a cadre of scholars producing research that informs policy decisions, and that also monitors research as it progresses to application. And sometimes it has even directly affected policy, as with the Genetic Information Nondiscrimination Act and state laws, the Myriad case that reached the Supreme Court and changed patent practice, and informed consent practices in research that studies people. It was, and is, a Big Deal.„