Thirty years ago in the United States, the National Center for Human Genome Research (NCHGR) at the National Institutes of Health (NIH) and its partner in the Human Genome Project (HGP), the Office of Health and Environmental Research at the Department of Energy (DOE), began to award grants to researchers in bioethics, philosophy, law, economics, sociology, health policy, and other disciplines to explore the ethical, legal, and social implications (ELSI) of mapping and sequencing the human genome. Today, the ELSI Research Program of the National Human Genome Research Institute (NHGRI) at the NIH continues the grantmaking activities of the original ELSI grantmaking programs at the NIH and the DOE. Three decades of support have grown ELSI research into a robust, global field of study that occupies a unique position at the nexus of many academic disciplines and in proximity to basic and applied scientific research. In thousands of publications, including many works authored without grant-based funding, ELSI scholars have explored a variety of issues in genetics and genomics research and its clinical translation, as well as broader societal issues raised by emerging technologies in the life sciences. Their work has produced many concrete outcomes that positively shape the conduct of genomic research and protect human rights. The future of ELSI research will be determined in part by the outcome of debates about its role that are taking place in the many domains informed by this area of inquiry.
When we talk about “ELSI research” in the United States, we are referring to the field of study concerned with the ethical, legal, and social implications (ELSI) of genetics and genomics. With its origins in the international scientific collaboration called the Human Genome Project (HGP), which sequenced and mapped the complete human genome from 1990 - 2003, today the ELSI concept is thirty years old. Across three decades, ELSI scholars have produced thousands of articles, books, and other materials (Morrissey & Walker, 2012). These works explore a variety of ethical and legal issues in genetics and genomics research and its clinical translation, as well as broader societal issues raised by emerging technologies in the life sciences (McEwen et al., 2013). A 2012 study of the most frequently occurring topics in a selection of ELSI literature published from 2003 - 2008, identified the following ten popular subjects: 1) genetics or genomics generally, 2) biorepositories, 3) genetics and race, 4) genetic enhancement, 5) genomics research and the public, 6) intellectual property, 7) personalized health interventions, 8) genomics and clinical practice, 9) human subject protection, and 10) informed consent (Walker & Morrissey, 2012). These and other core topics continue to be explored by ELSI scholars even as they respond to emerging innovations in genome science.
ELSI researchers identify and explore societal and ethical issues associated with the conduct and application of scientific research. As such, ELSI research studies other forms of research (Nydal et al., 2015). There are many good reasons to take scientific research as an object of study, among them are ensuring that it is conducted for the benefit of society, that its benefits are evenly distributed, and that harms and misuse are limited to the greatest extent possible (van der Weele, 2008). As ELSI researchers study both science and society, it is typical for these scholars to bring a wide range of academic training and the perspectives of their “home” fields of study to their work. The home fields of ELSI researchers include bioethics, clinical medicine, genetics and genomics, health services research, law, public policy, economics, behavioral and social sciences (e.g. psychology, sociology, anthropology, political science, economics), science communication, science and technology studies, and the humanities (e.g. history, philosophy, literature and the arts) (Burke et al., 2015; Zwart et al., 2014; Zwart & Nelis 2009). Further, ELSI scholars utilize a broad range of methods, including the methods of their home discipline, bioethics methods (e.g. principlism, casuistry, etc.), empirical methods, legal and policy analysis, and methods of moral reasoning (Walker & Morrissey, 2014).
Establishing ELSI Research in the United States
In the United States in 1990, mapping and sequencing the human genome was an ambitious national objective, akin in scope to the 1961 decision by President John F. Kennedy to send a human to the moon (Watson, 1990). The scientific knowledge the project promised would dramatically enhance our understanding of human biology and of both genetic and acquired disease (Collins et al., 1998). However, in light of the disastrous consequences of eugenics movements, which provided a rationale for the sterilization of those deemed “unfit from continuing their kind” in America, the Holocaust perpetrated by Nazi Germany, and other atrocities, it was clear that the ability to describe the genetic information of individuals would also bring with it the possibility of stigma and discrimination for carriers of genetic disorders. Experts feared that genetic information about individuals could inhibit equitable access to healthcare if it inspired new qualifications or costs for the receipt of health insurance and even change the composition of human society, if genetic information were used to shape reproductive planning (Annas, 1989; Hanna, 1995; Holmes, 1926).
With these concerns in mind, James Watson, co-discoverer of the molecular structure of DNA and the first HGP director at the National Institutes of Health (NIH), announced that a portion of the project’s budget would be used to the study the impacts of genetic research on society at a press conference announcing his appointment in October of 1988 (Juengst, 1996; Marshall, 1996). HGP work at the NIH began in 1989 in the Office of Human Genome Research (Watson, 1990). The Program Advisory Committee on the Human Genome, a body convened to advise the NIH on all aspects of research in the area of genomic analysis, established a working group on ethics at its January 1989 meeting that it hoped would coordinate ELSI work at the NIH and DOE (Cold Spring Harbor Library & Archives, 2016). On March 3, 1989, the Office of Human Genome Research added a program announcement to the NIH Guide to Grants and Contracts that requested applications to address the following questions about research on the human genome:
- What are the concerns to society and to individuals?;
- What questions in the areas of ethics and law need to be addressed?;
- What can be learned from precedents?;
- What are the policy alternatives and the pros and cons of each?; and
- How can we inform and involve the public? (Cold Spring Harbor Library & Archives, 2016).
Understandably, this first solicitation was broad. It resulted in funded grant applications for several workshops, conferences, and consultations that would serve to identify and clarify the agenda and begin to bring the important issues to the public (Cook-Deegan, 1994; Juengst, 1994).
The HGP working group on ethics had its first formal meeting on September 14 - 15, 1989 (Cold Spring Harbor Laboratory Library & Archives, 2016). HGP work continued at the Office of Human Genome Research until October of 1989, at which time, the Department of Health and Human Services (DHHS) approved the establishment of the National Center for Human Genome Research (NCHGR) at the NIH (Watson, 1990). The NCHGR and its partner in the HGP, the Office of Health and Environmental Research at the Department of Energy (DOE), formally announced the formation of the Joint Working Group on Ethical, Legal, and Social Issues (ELSI) related to mapping and sequencing the human genome in November of 1990. The group was initially chaired by Nancy S. Wexler, Ph.D., then president of the Hereditary Disease Foundation and clinical psychologist in the department of neurology and psychiatry at the Columbia University College of Physicians and Surgeons. This first iteration of the ELSI Working Group, as it would be called, was composed of experts in law, ethics, psychology, genetics, clinical medicine, and other fields including Jonathan R. Beckwith, Ph.D., Robert Cook-Deegan, M.D., Patricia King, J.D., Victor A. McKusick, M.D., Robert Murray, M.D, and Thomas Murray, Ph.D. (Fink, 1990).
In January of 1990, the ELSI Working Group released a report detailing their mission (Cold Spring Harbor Laboratory Library & Archives, 2016). This report inspired the NCHGR to establish an ELSI Branch within its Division of Extramural Research and the DOE to establish an ELSI Program in the Office of Energy Research (OER) (National Human Genome Research Institute, 2012). The first meeting of the ELSI Working Group had led to the refinement of the program announcement for those seeking grants to conduct ELSI research (Cook-Deegan, 1994). ELSI grant applications from members of the academic research community were encouraged in the following nine topic areas:
- Fairness in insurance, employment, the criminal justice system, education, adoption, the military, and other areas;
- Psychological and societal responses to individual genetic information;
- Privacy and confidentiality (including ownership, control, and consent);
- Genetic counseling, including prenatal and presymptomatic testing, testing in the absence of therapeutic options, and population screening versus testing;
- Issues of reproductive choice;
- Medical practice, including standards of care, training, and education of patients and the general public;
- Historical misuses of genetics, especially eugenics, and relevance to the present;
- Commercialization, including property and intellectual property rights, and accessibility of data and materials;
- Philosophical issues such as definitions of health and disease and questions of determinism and reductionism (Cold Spring Harbor Laboratory Library & Archives, 2016; Wolfe, 2002).
The NCHGR ELSI Branch extramural ELSI grants program was administered by philosopher and bioethicist, Eric Juengst. The parallel grants program at the ELSI Program at the DOE was first managed by Michael Yesley, a lawyer, and then by Daniel Drell, a biologist (Cold Spring Harbor Laboratory Library & Archives, 2016; Cook Deegan, 1994; Juengst, 1996). The ELSI Working Group served an advisory and coordinating function by steering the course of these research programs (Cook-Deegan, 1995). It also convened various task forces and conferences and coordinated the production of policy options (Wolfe, 2002).
The explicit aims of the first iteration of the ELSI Working Group were as follows:
- Anticipate and address the implications for individuals and society of mapping and sequencing the human genome;
- Examine the ethical, legal, and social consequences of mapping and sequencing the human genome;
- Stimulate public discussion of these issues; and
- Develop policy options to assure that genetic information is used for the benefit of individuals and society (Fink, 1990).
During its tenure, the group established two task forces, one on privacy and one on insurance, and focused on distributing grant funds for research on quality and access in the use of genetic tests, the fair use of genetic information by employers and insurers, research on privacy issues involving genetic information, and public and professional education (Hanna, 1995; Meslin et al., 1997; United States Congress, 1992). The NCHGR had funded twenty-five extramural grants and ten national conferences by September of 1991 (Cook Deegan, 1994; Wolfe, 2002).
From the beginning of the program, ELSI research grants received 3% of the budget of the NCHGR with a budgeted scale up to 5% within the first three years and 3% of the budget of the Office of Health and Environmental Research at the DOE (Juengst, 1996; Marshall, 1996; House Committee on Government Operations, 1992). In addition to this sum spent to fund ELSI research, the ELSI Working Group was funded from the administrative budget of NCHGR with joint support from the DOE (Lehrman, 1996b). The sum of this first-of-its-kind ethics set aside within a major U.S. scientific initiative, would lead Nancy Wexler to describe the ELSI program as the "the largest biomedical ethics program in this country and probably in the world” and other internal commentators to make similar observations (Juengst, 1994; Marshall, 1996; Zylke, 1992;).
In 1993, the United States Congress formally instantiated the activities of the ELSI Branch at the NIH with legislation called the National Institutes of Health Revitalization Act. This Act mandated that “not less than 5 percent” of the NCHGR budget be allocated to “reviewing and funding proposals to address the ethical and legal issues associated with the genome project (including legal issues regarding patents)” (National Institutes of Health Revitalization Act of 1993). That same year, Francis Collins succeeded James Watson as Director of the NCHGR with oversight of the HGP and the ELSI Branch. Although he inherited the ELSI initiative from his predecessor, Collins maintained the ELSI Branch and reoriented it toward the practical matters of policy development by adding two professional staff positions and expanding the group to include representation from lay constituencies, clinical professions, and genome scientists (Juengst, 1996).
Rethinking ELSI at the National Institutes of Health
Early in 1996, an internal dispute about the purpose and autonomy of the ELSI programs arose when Collins vetoed the ELSI Working Group’s plans to spend $20,000 on an anthology on the non-medical uses of genetic information or behavioral genetics. Citing interference by the NCHGR in the budget allocation and position statements of the ELSI Working Group, Lori Andrews, a lawyer and chair of the working group, resigned. Sociologist Troy Duster, who stepped in to temporarily replace Andrews, urged that the Working Group be made autonomous from NCHGR and highlighted the imbalance between allocations to genome science and the working group (Hilgartner et al., 2016; Lehrman, 1996a, 1996b; Marshall, 1996). At the time, progress in the development of diagnostic technology that would be able to provide patients with unprecedented information about their genetic conditions had not kept pace with therapeutic technologies required to treat those conditions. “In this context,” Duster opined, “the formula for 95% for the mapping and sequencing versus the 5% for the social consequences seems particularly absurd. What about 50:50?” (Lehrman, 1996b).
Following the resignation of Andrews, Collins and Dr. Ari Patrinos, Associate Director for Health and Environmental Research, Office of Health and Environmental Research, at the DOE, commissioned an independent review to evaluate the scope of ELSI activities, the role of external advisers in the ELSI program, and how best to structure input on ELSI issues. They appointed The Committee to Evaluate the Ethical, Legal and Social Implications Program of the Human Genome Project (ELSI Evaluation Committee) on April 30, 1996 (Lehrman, 1996b; Rothstein et al., 1996). The ELSI Evaluation Committee issued a report in December of 1996. It found the ELSI Working Group to be an integral part of the HGP, but found its mandate “too broad to be satisfied by any single body” and its placement “not commensurate with the more global role of some important policy formulation”. In remedy, The ELSI Evaluation Committee offered three recommendations: 1) that the NIH implement a process for communication and coordination of the ELSI activities on research ethics in genetic studies within the institutes; 2) that it restructure the existing Working Group into the ELSI Research Evaluation Committee, which would coordinate ELSI grants and set the research agenda; and 3) that it establish a federally-chartered Advisory Committee on Genetics and Public Policy situated in the Office of the Secretary of the Department of Health and Human Services (DHHS) to “assume the role of identifying issues and formulating policy to ensure integration of new genetic knowledge into health care standards” (Rothstein et al., 1996).
In 1997, the United States Department of Health and Human Services renamed the NCHGR the National Human Genome Research Institute (NHGRI) and elevated it to the status of a research institute (NHGRI, 2020). At its February 1997 meeting, the National Advisory Council for Human Genome Research (NACHGR) endorsed all three recommendations of The ELSI Evaluation Committee. In July 1997, that council and the Biological and Environmental Research Advisory Committee (BERAC) at the DOE formally established the ELSI Research Planning and Evaluation Group (ERPEG). The ERPEG membership was selected for their expertise, experience, and/or accomplishments in areas relevant to the ELSI program. Its mission was to review and analyze the portfolio of ELSI research grants at both NHGRI and DOE, to conduct a strategic planning process that would result in the ELSI component of the 1998-2003 strategic plan for the HGP, and to prepare a report summarizing its findings and making recommendations. The ERPEG was to provide NHGRI and OHER/DOE with expert guidance on matters relating to their extramural ELSI research portfolios until January 2000. (NHGRI, 2012).
Francis Collins and colleagues outline the following major foci for the Ethical, Legal, and Social Implications (ELSI) Research Program in the HGP strategic plan for 1998 - 2003:
- Examine the issues surrounding the completion of the human DNA sequence and the study of human genetic variation.
- Examine issues raised by the integration of genetic technologies and information into health care and public health activities.
- Examine issues raised by the integration of knowledge about genomics and gene-environment interactions into nonclinical settings.
- Explore ways in which new genetic knowledge may interact with a variety of philosophical, theological, and ethical perspectives.
- Explore how socioeconomic factors and concepts of race and ethnicity influence the use, understanding, and interpretation of genetic information, the utilization of genetic services, and the development of policy (Collins et al., 1998).
In this, the last strategic plan prior to HGP completion, the new goals for the ELSI program were focused on anticipating the reception and use of the results of the project in clinical care, prevention, nonclinical, and policy settings.
ELSI Research Today
Although the ELSI Program at the DOE was ultimately discontinued, the completion of the HGP in 2003 did not end the ELSI Research Program at NHGRI. Today, ELSI research activities are reviewed by the ELSI Research Advisors Group (ERA). The ERA, a working group of the National Advisory Council for Human Genome Research (NACHGR) since 2000, provides advice to the council on the ELSI extramural research program (NHGRI, 2012). NHGRI still allocates at least 5% of its annual extramural research budget to the ELSI Research Program. This amounted to $1.57 million USD in fiscal year 1990, $18.9 million in 2016, and about $22 million in 2020 (Boyer et al., 2017; Boyer, 2020; McEwen et al., 2014). This sustained level of financial commitment to the study of its ethical and social implications, has made the field of genomics unique among the biosciences in the United States (McEwen et al., 2013). In fact, in recent years, program officers for the ELSI Research Program described it as the largest single funder of research focused on the ethical, legal, and social implications of genetics and genomics worldwide (Boyer et al., 2017).
Today, the NHGRI ELSI Research Program, often in partnership with other NIH institutes or centers, funds individual investigators, workshops, consortia, and conferences within the United States in three, overlapping research domains. These domains include ELSI issues associated with: 1) the design and conduct of genetic and genomic research, 2) the translation of genetic and genomic research into clinical medicine and healthcare, and 3) the use of genetic and genomic technologies and information in research, clinical, or non-medical settings. In addition, NHGRI has recently announced that it will expand the list of ELSI research areas to include the following:
- Institutional & System Level Influences on Genomics. How organizations, institutions, governments, systems, and other organized stakeholders engage & interact with genomics.
- Genomics and Sociocultural Structures and Meaning. Personal, social and cultural factors that shape the generation, interpretation, and use of genomic information and technology.” (Boyer, 2020).
These additions promise the production of ELSI research that explores the larger context in which genomic research is interpreted and applied.
NHGRI now funds a suite of activities beyond investigator-initiated ELSI research. In 2004, the institute collaborated with the DOE and the National Institute of Child Health and Human Development (NICHD) to establish four Centers of Excellence in ELSI Research (CEERs) (Stegmaier, 2009). CEERs provide an infrastructure for interdisciplinary research, ensure that relevant ELSI research findings are made available to policymakers, and train the next generation of ELSI investigators (McEwen et al., 2014; Burke et al., 2015). Five CEERS are funded through 2020: The Utah Center of Excellence in Ethical, Legal and Social Implications Research focused on ELSI of prenatal and newborn screening; GetPreCiSe Center (Genetic Privacy and Identity in Community Settings) focused on genomic data privacy; BRIDGES (Center for Bridging Infectious Disease, Genomics, and Society) focused on genomic information and infectious disease prevention & control; the Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral Genetics focused on understanding the implications of psychiatric, neurologic and behavioral (PNB) genetics, and the Center for the Ethics of Indigenous Genomic Research (CEIGR) focused on the clinical use of genomics and indigenous communities. NHGRI has also provided support for ELSI studies embedded in large genomics initiatives sponsored by other NHGRI Divisions such as the CSER Consortium, eMERGE, the Human Microbiome Project, the Wellcome Trust/NIH H3Africa Initiative, and the NBSeq initiative (Boyer et al., 2017; Burke 2015; Clayton et al., 2010; McEwen et al., 2014; McGuire et al., 2008; Wright et al., 2013). Further, NHGRI provides training grants to individual pre- and postdoctoral students and investigators in other stages of career development in an effort to increase the number of scholars who are qualified to conduct ELSI research (Boyer et al., 2017).
Over the years, the program has responded to emerging issues in genome science, and lately, has created mechanisms for ELSI scholars to contribute to the redress of salient social issues in the United States. A new NHGRI program announcement for investigator-initiated ELSI research calls for projects that help ensure that genomic research and medicine are acceptable and accessible to communities who have been historically mistreated, underserved or underrepresented in biomedical research. While this development is welcome, a recent commentary supported by 70 signatories interprets this announcement as partial NIH support for research leading to the creation of best practices for the study of race and other population identifiers in laboratory and clinical research in order to address their misuse. Yudell and colleagues argue that these awards could take years to address this issue and urge the NIH to offer guidance for the use of racial and ethnic identifiers beyond the research recruitment process and lead education efforts to train scientists and the public (Yudell et al., 2020).
Iterations of the ELSI Research Program at the NIH have supported the production of ELSI scholarship on a broad variety of topics in the United States for the past thirty years. In addition, less dedicated governmental funding streams have supported related work including those at the National Science Foundation (NSF) and the National Endowment for the Humanities (NEH) (Burke et al., 2015). Importantly, the “ELSI community” is enlarged and enriched by ELSI scholars who employ normative, legal, or conceptual methods of analysis (Cho, 2012; Parker et al., 2019). Many of these non-empirical analyses, as well as a small number of empirical works, do not acknowledge the receipt of any grant-based funding (Morrissey & Walker, 2012; Walker & Morrissey, 2012). Given the lack of reporting mechanisms for these works and their location in a broad variety of discipline-specific repositories, their exact number is unknown.
Global ELSI Initiatives 1990 - present
Our review of the English language literature suggests that beginning in the early 1990’s, iterations of the ELSI Research Program in the United States appeared across the globe. Those who have discussed the genealogy of the ELSI concept suggest that it began in the United States and then spread to Canada and Europe--losing its “I” along the journey (Zwart et al. 2014; Zwart & Nelis, 2009). Notably, the ELSI concept morphed into “ELSA” when it arrived in the European context. The revised acronym replaced “implications” with “aspects” and was usually accompanied by a suffix, for example: “ELSA genomics” or “ELSA nanotechnology” (Penders et al., 2008; Zwart et al. 2014). Below are the global ELSI initiatives that we discovered during our review.
- 1992 - 1997 -- The Medical, Ethical, Legal and Social Implications (MELSI) of genetics program was a component of the CGAT (Canadian Genome Analysis and Technology) initiative, Canada’s contribution to the HGP (López & Robertson, 2007; López & Lunau, 2012).
- 2000 - present -- Genome Canada, a not-for-profit corporation funded in part by the Federal Government of Canada, funds the (Genomics, Economic, Ethical, Environmental, Legal and Social Aspects (GE3LS) program (Kosseim & Chapman, 2011; López & Lunau, 2012).
- 2001 - present -- The Canadian Institutes of Health Research, Institute of Genetics, includes the study of genetics and its ethical, legal, and social issues as a strategic research priority (Kosseim & Chapman, 2011).
- 1994 - 1998 -- The 4th European Union Framework Programme introduced ELSA as a label for funding research into the ethical, legal, and social aspects of emerging sciences and technologies, stakeholder dialogues, education, and other activities (Hilgartner et al., 2016; Zwart et al., 2014).
- 2002 - 2012 --The Economic and Social Research Council funded centers and institutions across the United Kingdom (Cesagen, Innogen, Egenis, & Genomics Forum) to study the economic and social implications of genomic science and technologies. Together, these centers were called the Economic and Social Research Council (ESRC) Genomics Network or EGN (Kosseim & Chapman, 2011; See Stegmaier, 2009).
- In 2005, Genomics, Society and Policy (GSP), a peer-reviewed, open-access journal was developed within the ESRC genomics network and co-produced by the Centre for Society and Genomics (CSG) in the Netherlands. GSP published 8 issues from 2005 - 2012 containing articles and reviews on the societal dimensions of the life sciences, especially genomics. The journal was acquired by Springer Science & Business Media in 2013. Given an expanded scope, inclusive of post-genomics topics such as personalized medicine, systems biology, and synthetic biology, GSP was renamed Life Sciences, Society, and Policy (LSSP) (Chadwick & Zwart, 2013)
- 2005 -- The ELSA (ethical, legal, and societal aspects) coordinating project, “Societal Aspects of Genomics” of the Sixth Framework Programme project, ERA-SAGE, was established in 2005 to coordinate ELSA activities in eight European countries and Canada. Nydal, Myhr, and Myskja argue that ELSA in these countries expanded beyond genomics in 2005 and began to be applied to other emerging technologies such as nanotechnology, information and communication technologies, synthetic biology, and neurotechnology (2015; Melich, 2017)
- 2013 - 2020 -- The European Commission makes Responsible Research and Innovation (RRI) a cross-cutting theme in the Framework Programme for Research and Innovation, Horizon 2020, and assigns responsibility for RRI to the Science with and for Society (SwafS) sub-programme. RRI has the following thematic elements: public engagement, open access, gender, ethics, and science education (Hartman et al., 2020; Rip, 2016).
- In 2014, Taylor and Francis launched the Journal of Responsible Innovation, a forum for discussions of the normative assessment and governance of knowledge-based innovation (Zwart et al. 2014).
- 2002 - 2007 -- The Ethical, Legal and Social Aspects (ELSA) of Nanotechnology, Biotechnology and Neurotechnology Programme was established by the Research Council of Norway (RCN) to study issues associated with biotechnology, nanotechnology, and cognitive science (Chadwick & Zwart, 2013; Kosseim & Chapman, 2011). The first programme period was called ELSA 1 and it was focused on functional genomics (Forsberg, 2014; Nydal et al., 2015).
- 2008 - 2014 -- The second programme period of the Ethical, Legal and Social Aspects (ELSA) of technologies of the RCN was called ELSA II (Forsberg, 2014). This programme was focused on nanotechnology and new materials (Nydal et al., 2015).
- In addition to the ELSA I and ELSA II programmes of the RCN, early Norwegian national biotechnology programs such as those for functional genomics (FUGE) and nano materials (NANOMAT) include ELSA research components. Ongoing programs, such as BIOTEK2021 and NANO2021, allocate 2 - 5% of their funding to ELSA (Forsberg, 2014).
- 2001 -- The Dutch government allocated 189 million EUR to genomics research and earmarks 4% for the study of ethical, social, economic, psychological and legal aspects of the genomics programmes and the establishment of the Netherlands Genomics Initiative (Nationaal Regie-Orgaan Genomics), an independent task force charged with governing the new genomics infrastructure (Huijer, 2006).
- 2004 -- The Netherlands Genomics Initiative (NGI) allocated 5% of its budget to two initiatives: 1) researcher-driven projects on “the societal component of genomics research” and 2) the Centre for Society and Genomics (CSG) (later renamed Centre for the Study of Life Sciences) which housed approximately 50 ELSA research projects (Chadwick & Zwart, 2013; Kosseim & Chapman, 2011; Zwart et al., 2014; Zwart & Nelis, 2009).
- 2009 - 2011 -- The Dutch Government organizes the Committee Societal Dialogue Nanotechnology (CieMDN) and tasks it with organizing a national public dialog on nanotechnology called Dutch Nanodialogue that was active from March 2009 to January 2011 (Van Est, 2011).
- The Dutch Research Council or Netherlands Organization for Scientific Research (NWO) funds researchers in the social sciences and humanities to anticipate developments in science and society (Penders et al., 2008; Chadwick & Zwart, 2013; Zwart et al., 2014).
Austria, Finland, & Germany
- 2009 - Austria, Finland, and Germany launched a multinational initiative called ELSAGEN to fund collaborative research on ELSA issues associated with genomics and the related sciences (Kosseim & Chapman, 2011; Chadwick & Zwart, 2013).
- 2001 - The Government of South Korea funded an Ethical, Legal and Social Implications program (Chadwick & Zwart, 2013; Ramsey, 2001; Yoon et al. 2010).
In addition to the programs outlined above, there are likely other countries with ELSI programs that are not officially labeled as such (Hilgartner et al., 2016). Global ELSI initiatives share several characteristics with ELSI research in the United States. These efforts also position ELSI researchers in proximity to or embedded in large genomics or other life science initiatives, focus on anticipation of or rapid response to emerging scientific issues, support the co-design of research agendas with the public, utilize diverse source materials and approaches, and interact with a broad range of stakeholders including the media, policymakers, industry, and others (Zwart et al., 2014; Zwart & Nelis, 2009). However, global ELSI initiatives have tended to have an expanded scope compared to those in the United States. While some focus is on aspects of genetics and genomics, there is also substantial interest in other emerging technologies in the life sciences and more broadly, including nanotechnology, information and communication technology, synthetic biology, and neurotechnology. Outside of the United States, the emphasis on ethical, legal, and social implications is also expanded to include explicit emphasis on areas such as economics and environment (Nydal et al., 2015).
Criticisms and Impacts
In the past 30 years, criticisms of the ELSI field of study have come from scientists, NIH officials, and ELSI researchers themselves. Early in ELSI history, scientists questioned whether funding projects to criticize approaches to and consequences of the HGP was a good use of the project’s funds and whether an embedded ethics component would signal that the project required additional public scrutiny (Hilgartner et al., 2016; Wolfe, 2002). For their part, bioethics scholars worried that ELSI funding would direct the attention of social scientists and humanists away from other pressing issues in biomedicine, while at the same time, reducing the capacity of bioethicists to critically examine the HGP “either by professionally indebting them to the Project or by redirecting their attention ‘downstream’ from the Project to its applications” (Juengst, 1996; Hubbard and Wald, 1993; Seltzer et al., 2011; Weiner, 1994; Wolfe, 2002). Other commentators have observed that because ELSI research shares a funding mechanism with the science it observes, its workers must function as translators, mediators, or facilitators of science by manufacturing public acceptability (Balmer et al., 2015; Joly et al., 2016). Over thirty years, there has been an active debate over whether ELSI should make policy or be a research enterprise (Hanna, 1995; Wolfe, 2002; Yesley, 1998). However, it is not clear whether there is actually a robust distinction between these two functions (Zwart et al., 2014). Another criticism is that the focus by ELSI researchers on the “implications of” novel technologies requires its practitioners to use “speculative ethics” and make policy recommendations are based on “a possible (and probably inadvertent) exaggerated portrayal of harm” instead of evidence. These commentators raise concern that ELSI findings are conveyed without appropriate nuance and that the resulting “ethics hype” can misinform the public, lead to poor policy decisions, and create backlash against promising research fields (Balmer et al., 2015; Caulfield et al., 2013; Caulfield, 2016; Joly et al., 2016).
Despite these criticisms, commentators have credited ELSI research programs throughout the world with the creation of “a healthy culture of skeptical scrutiny” useful for the examination of emerging science and technology (Caulfield et al., 2013; McEwen et al., 2014). More tangibly, ELSI research has been an upstream contributor to several important legislative and judicial outcomes. For example, in 1992, the recommendations of an ELSI Task Force on Genetic Information and Insurance were passed on to the White House Task Force on Health Care Reform, chaired by Hillary Clinton. These recommendations were included in the Clinton health care reform bill (the Health Care Security Act of 1993), and became the public case for healthcare reform (Juengst, 1996; Wolfe 2002). Although the bill failed, the Health Insurance Portability and Accountability Act of 1996 ultimately excluded indications for developing genetic disease as predicted by genetic tests, in the absence of disease, from the list of clauses naming preexisting conditions (Wolfe, 2002). ELSI has also been credited with influencing Congress to extend the Americans with Disabilities Act to offer protection from employment discrimination to individuals with genetic disease or the results of tests predicting the development of genetic disorders in the future (Fisher, 2005; Wolfe, 2002). Further, the findings of research supported by the ELSI program informed a report by the Secretary’s Advisory Committee on Genomics, Health, and Society that became part of the evidence for the Supreme Court finding against Myriad Genetics, which argued that DNA was excluded from patent eligibility. This important finding contradicted the then generally accepted practice of gene patenting (McEwen et al., 2014).
ELSI research has also more directly produced several concrete policy outcomes that positively shape the conduct of genomic research and protect human rights. Among these are the passage of the Genetic Information Nondiscrimination Act of 2008 and a Universal Declaration on the Human Genome and Human Rights (Caulfield et al., 2013). Among the full list of ELSI accomplishments are: improvements to the drafting and ethical review of consent forms for genomic studies; the development of NIH policies for genomic data sharing for the purposes of conducting genome wide association studies (GWAS); position statements, policies, and recommendations for direct-to-consumer genetic testing; policies, practices, and governance for biobanks and biorepositories at the NIH and other institutions; the adoption of genetic screening guidelines by professional organizations; an Executive Order protecting federal employees from genetic discrimination in the workplace; analysis and recommendations on returning individual results to research participants; and recommendations an end to the clinical and research use of race as a biological category (Caulfield et al., 2013; Collins, 2004; NHGRI, 2020; McEwen et al., 2014; Pub. L. 104-191, 110 Stat. 1936; 135 at 902-45; Pub. L. 110-233, 122 Stat. 881; Shen, 2013; Skirton et al., 2012; Wolf et al., 2008; Yudell et al., 2016).
The HGP was the first federally-funded scientific research program in the United States to allocate a portion of its own funding to the consideration of its potential social impact (Wolfe , 2002). At the beginning of its history, commentators spoke of the ELSI concept as though it was a theory to be tested--the “ELSI hypothesis” (Hilgartner et al., 2016). The “ELSI hypothesis” is explained well by the first director of the ELSI Branch at the NIH,, Eric Juengst, as “the assumption that the interdisciplinary dialogue that [the ELSI Program] seeks to foster should be a natural part of the scientific process and is best pursued by scholars, educators, and policymakers in the field, interacting with the scientists pursuing genome research and with the families who may someday use its results” (Juengst, 1994). The diffusion of the model to other research programs on the ethical and societal implications of genomics and other emerging technologies worldwide is a tacit endorsement. The ELSI model has been adopted by other “big science” projects in the United States such as the BRAIN Initiative (Shen, 2013) and the National Nanotechnology Program (NNP) (Fisher, 2005). ELSI funding to academic researchers worldwide have supported the production of an impressive volume of literature and an ELSI career track. According to one commentator on ELSI research writing near the midpoint of its thirty year history, “We are perhaps seeing a new academic field emerging at the nexus of society and genomics, although not a discipline in its own right” (Stegmaier, 2009). However, interestingly, scholars writing in this decade describe ELSI as both an “emerging field” (Bell et al., 2016) and as “a maturing field” (Walker & Morrisey, 2012). Perhaps the time is right to ask: What should we call ELSI research at age thirty?
This essay was supported by the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) under Award Number U24HG010733. The content is solely the responsibility of the author and does not necessarily represent the official views of the National Institutes of Health.
Corrections, comments, and additional source material welcome by email submission to [email protected].
Cite this article:
Dolan, D. D. (2020, November 6). What is ELSI research? ELSIhub. https://elsihub.org/about/what-is-elsi-research
What are people saying about ELSI Research?
Pilar N. Ossorio, PhD, JD
Professor of Law and Bioethics, University of Wisconsin; Bioethics Scholar-in-Residence at the Morgridge Institute for 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.„
Gail E. Henderson, PhD
Professor, Department of Social Medicine & Director, Center for Genomics and Society at the University of North Carolina School of Medicine
“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.„
Thomas H Murray, PhD
President Emeritus of The Hastings Center & Founding member of the ELSI Working Group
“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.„
Robert Cook-Deegan, MD
Professor at Arizona State University & Founding member of the ELSI Working Group
“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.„