The Ethical, Legal and Social Implications (ELSI) program is an integral part of the Human Genome Project (HGP), and it will continue to be essential as the focus of scientific research increasingly shifts to applied genetics.The responsibilities currently being undertaken by the Joint National Institutes of Health-Department of Energy (NIH-DOE ELSI) Working Group (Working Group) are much too broad to be satisfied by any single body. Moreover, the placement of the Working Group, as a joint subcommittee of the National Advisory Council on Human Genome Research (NACHHGR) at NIH and the Health and Environmental Research Advisory Committee (HERAC) at DOE is not commensurate with the more global role of some important policy formulation.
Accordingly, this committee recommends dividing the Working Group's responsibilities among committees and at levels in the government better suited to the specific objectives assigned them. First, a newly established ELSI Research Evaluation Committee should have responsibility for oversight of the extramural ELSI grant portfolios at NHGRI and DOE. Second, an NIH-wide process should be used to coordinate the ELSI activities of the various institutes engaged in genetic research. Third, a federally-chartered Advisory Committee on Genetics and Public Policy should be established in the Office of the Secretary of HHS to undertake the formulation of public policy resulting from advances in genetics. The efforts of these committees must be coordinated so that there is two-way communication and facilitation of their common objectives.
The Committee to Evaluate the Ethical, Legal, and Social Implications Program of the Human Genome Project (ELSI Evaluation Committee) was appointed on April 30, 1996, by Dr. Francis S. Collins, director of the National Center for Human Genome Research (now NHGRI), the National Institutes of Health (NIH); and Dr. Ari Patrinos, associate director for Health and Environmental Research, Office of Health and Environmental Research, United States Department of Energy (DOE). The committee was charged with taking a comprehensive look at the Joint NIH/DOE Working Group on the Ethical, Legal,and Social Implications of Human Genome Research (Working Group).
According to the charge to the committee (see Appendix A), "the main task of the committee will be to identify the functions that will need to be addressed in the future and to recommend an appropriate structure for effectively carrying these out." The members of the committee (see Appendix B for a roster of members) developed the following mission statement to guide their inquiries and deliberations:
The committee will evaluate the appropriate scope of ELSI activities and the role of external advisers in the ELSI program. The committee will assess how, in the near term, it would be best to structure input on ELSI issues raised by and as a consequence of the Human Genome Project. The Committee also will assess how, in the longer term, it would be best to structure input on ELSI issues raised more generally by research involving human genetics.
In its evaluations and recommendations the committee will consider the organizational structure, staffing, and budgetary needs of an entity or program that has the responsibility of facilitating the free and open discussion by diverse groups and individuals of a wide range of ELSI issues. The committee also will consider how the study of ELSI issues raised by genetics research can be coordinated with other related activities at NIH and DOE as well as with other governmental and private bodies that deal with similar issues of bioethics and health policy.The committee utilized various procedures in obtaining information relevant to this report. It obtained copies of documents from NIH and DOE related to their ELSI programs and the Working Group. It also conducted interviews with numerous individuals, including past and present officials of NIH and DOE, past and present members of the Working Group, and experts on ELSI issues. In addition, it solicited public input through written and electronic comments, as well as a public forum announced in the Federal Register.
Dr. Bettie Graham of the NHGRI served as Executive Secretary to the Committee. The members of the committee are indebted to Dr. Graham and her staff for obtaining the necessary documents for the committee and for logistical support. All interviewing, deliberating, and drafting were undertaken by the committee members alone, within subcommittees, or in executive session.
While the HGP is unquestionably an exciting and vitally important scientific research endeavor, it also presents formidable challenges to science policy and public affairs. From the outset, leaders of Congress and the Executive Branch recognized that as scientific research proceeded, it was essential to support parallel research on the ethical,legal, and social implications of human genome research. To this end,separate ELSI research programs were established at NIH and DOE. These unprecedented programs support important scholarly research on genetic counseling, privacy, discrimination, education, intellectual property, and numerous other issues.
In addition to establishing ELSI research programs, NIH and DOE established a Joint Working Group for the study of ELSI issues. The Working Group is currently structured as a subcommittee of the National Advisory Council on Human Genome Research (NACHGR) of the NHGRI at NIH and as a subcommittee of the Health and Environmental Research Advisory Committee (HERAC) of the DOE. The Working Group is composed of experts in the fields of bioethics, law, the social sciences, and basic and applied genetics, as well as representatives of professional societies and the public. The dedicated members of the Working Group have labored diligently to identify emerging issues, increase the level of public understanding and help shape public policy. With the support of the leadership at NIH and DOE, the Working Group has made some important contributions to the analysis of ELSI issues, including the Report of the Task Force on Genetic Information and Insurance and the work of the ongoing Task Force on Genetic Testing.
As the HGP turns its attention to large-scale sequencing, it is appropriate to consider the mission and structure of future ELSI research. This assessment is particularly timely for four reasons.
First, scientific developments are proceeding at an accelerating pace, thereby raising new ELSI issues calling for a rapid response.
Second, the expanding potential of genomic technology will increasingly require research designed to anticipate, rather than simply respond to, emerging ELSI issues.
Third, as large-scale sequencing projects are completed, a growing proportion of biomedical research will entail applied and clinical genetics, giving rise to a new set of substantive ELSI issues throughout the NIH. Finally, in the emerging era of applied genetics and molecular medicine, a variety of government agencies with regulatory responsibility for health issues will be involved to a much greater extent in implementing policies related to human genetics. For these reasons, new challenges will emerge in the coming years that can only be met by strengthening the ELSI program.
The committee carefully considered the input of the numerous individuals who shared their views on the ELSI program. From these views and the committee's own analysis, we determined that the following are essential elements of an effective ELSI program.
The charge of the ELSI Working Group is so broad and complex as to be confusing to various participants and observers. This confusion has led to uncertainty about its primary functions and reporting relationships. For example, while the Working Group has addressed broad policy issues, it has not provided in-depth advice regarding the extramural research program to the extent that it might. The inadequately defined mission of the Working Group also has led to inefficiencies in operation. Furthermore, serious concerns have been raised about the Working Group's lack of resources and independence, as well as conflicts with the intramural policy making activities at NHGRI and the inadequate sharing of essential information by staff at NHGRI. The Working Group is not positioned within the governmental scientific structure so as to fulfill the breadth of its charge. There is a fundamental discordance between a narrowly defined scientific research program and a much broader effort to formulate and implement policy regarding the social consequences of all genetic developments, both research and clinical. The NHGRI and the Office of Health and Environmental Research (OHER) at DOE are charged with genomic research. It is appropriate and essential for these agencies to fund research on a wide range of ELSI issues. It does not necessarily follow, however, that policy development on ELSI issues (such as clinical genetics, confidentiality of genetic data in medical records, health insurance coverage, and genetic discrimination in employment), is best achieved under the aegis of centers at NIH and DOE whose missions are limited to genome mapping and sequencing.
Several considerations - the breadth of ELSI issues, the rapid pace of the science, the difference between running a research program and developing policy, and the variety of government agencies relevant to policies involving genetics - converge to make it clear that effective research and policy development on ELSI issues cannot be accomplished by a single Working Group in its present location. Similarly, appropriate public and professional interactions in health policy development cannot be achieved under the current structure.
At the NIH, ELSI-type activities occur in multiple institutes and programs,some overlapping others to a significant extent. Research strategies, human subjects issues, and many other ELSI activities in the various institutes and programs require coordination and information sharing. Addressing the ethical, legal, and social implications of developments in genetics will require strong support and continuing attention at NHGRI, throughout NIH and DHHS, at DOE, and at all government agencies with responsibilities in related fields.
The committee assessed the relative importance, interactions, and requirements for meeting the above enumerated essentials for the ELSI program. This assessment was carried out utilizing the available information and opinions from all forms of input and the committee's own discussions. There is total agreement among the committee and those we surveyed that the ethical, legal, and social implications raised by the HGP are of immense significance to all individuals,including the scientific community. Therefore, it is of the highest priority that an appropriate mechanism should be established to ensure that a rigorous, focused research program exists to build a foundation of knowledge about ELSI issues and to provide an open, independent forum for a full discussion of the issues. Extensive interdisciplinary research on ELSI issues must be continued, and the current extramural funding mechanisms within NHGRI and DOE provide an appropriate means to carry forward this crucial mission.
The majority of research within the HGP has a very limited focus, that of producing the complete genome sequence on a tight time line. By contrast, the research goals of ELSI reach across all of genetics and beyond to clinical and social issues. In spite of the discordance between these two very different arenas, the location of the ELSI research program within the genome project is essential because it ensures a realistic connection between the research issues raised by the former and those addressed by the latter. As discussed above, however, the current NIH/DOE Joint Working Group on the Ethical, Legal and Social Implications of Human Genome Research can no longer address the plethora of issues under the ELSI umbrella. A new structure is required to ensure that the public, government, and research community's interests in ELSI issues,as outlined above, are adequately met in a timely and informed fashion.Therefore, the committee proposes the following three recommendations for restructuring the ELSI effort. These recommendations are given first in summary form and then in more detail.
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Mark A. Rothstein, J.D., Co-Chair
Hugh Roy and Lillie Cranz Cullen Distinguished Professor of Law
Director, Health Law and Policy Institute
University of Houston Law Center
24800 Calhoun Rd.
Houston, TX 77204-6381
M. Anne Spence, Ph.D., Co-Chair
Professor, Department of Pediatrics
Division of Human Genetics
Building 27, Room 104
University of California Medical Center
101 The City Drive South
Orange, CA 92668
Patricia A. Buffler, Ph.D., M.P.H.
Dean, School of Public Health
University of California, Berkeley
140 Warren Hall
Berkeley, CA 94720
James F. Childress, Ph.D.
Edwin B. Kyle Professor of Religion and Professor of Medical Education
Cocke Hall, Basement Room 10
University of Virginia
Charlottesville, VA 22903
Charles J. Epstein, M.D.
Professor of Pediatrics
Chief, Division of Medical Genetics
University of California, San Francisco
San Francisco, CA 94143-0748
Stephen Hilgartner, Ph.D.
Assistant Professor of Science and Technology Studies
632 Clark Hall
Ithaca, NY 14853
Bartha Maria Knoppers, LL.D.
Senior Researcher (CRDP)
Faculty of Law
University of Montreal
C.P. 6128, Succ. Centre-ville
Canada H3C 3J7
New Jersey Associationfor Biomedical Research
507 Westminister Avenue
Elizabeth, NJ 07208
Marynard V. Olson, Ph.D.
Department of Molecular Biotechnology
University of Washington School of Medicine
Mail Stop FJ-20
Fluke Hall on Mason Rd.
Seattle, WA 98195
Kenneth I. Shine, M.D.
President, Institute of Medicine
National Academy of Sciences
2101 Connecticut Ave., N.W.
Washington, DC 20418
Bailus Walker, Jr., Ph.D., M.P.H.
Professor, Environmental and Occupational Medicine
Howard University Cancer Center
2041 Georgia Avenue, N.W.
Washington, DC 20001
Last Reviewed: October 1, 2012