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Society's Choices: Social and Ethical Decision Making in Biomedicine The Ethical, Legal, and Social Implications Program of the National Center for Human Genome Research: A Missed Opportunity? KATHI E. HANNA Science and Health Policy Consultant, Washington, D. C. ELSI is not a guarantee that all is well in the Genome Project, that all moral problems will be neatly anticipated, dissected, and managed. It is ludicrous to think that a handful of scholars and clinicians who comprise [sic] the ELSI Working Group are capable of such heroic wisdom and foresight, or even to believe that the many scholars whose independent work is being funded through the ELSI program can do the same. The ELSI Working Group is not a commission or regulatory agency empowered to speak for the public or to exercise control in the public interest. Experts in medicine or ethics or law, although they may clarify issues and offer useful critiques of public policy, lack the moral and political authority to decide what ought to be done. There are dangers here. The public, including public officials, must not be misled about what ELSI can do, lest it let down its guard. Thomas H. Murray, member of the ELSI Working Group (1992) Thomas H. Murray, member of the ELSI Working Group (1992) The Human Genome Project of the National Institutes of Health (NIH) and the Department of Energy (DOE) was initiated in fiscal year 1988 as a line item in the federal budget to map and sequence the entire complement of genetic information in the human genome. The project, the first major federally funded biology initiative, is expected to take 15 years at a cost of approximately $3 billion. Simultaneously hailed as the search for the biological "holy grail" (Hall, 1990) and big science at its worst (Lewin, 1986a, 1986b; Walsh and Marks, 1990), the human genome project is unprecedented in many ways. Besides being "big biology," the research alli-
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Society's Choices: Social and Ethical Decision Making in Biomedicine ance between NIH and DOE was also a first (see Cook-Deegan, 1991; NRC, 1988; OTA, 1988), as was the allocation of 3 percent of the research budget for the study of ethical, legal, and social implications of the application of knowledge gained from the mapping and sequencing research enterprise. Never before had the federal government rushed headlong into such an ambitious research program while at the same time supporting efforts that would raise questions about the wisdom, pace, and potential social consequences of its actions. The knowledge gained from the Human Genome Project is expected to have major impacts on the understanding of disease, both genetic and acquired, for society in general, and for us, as individuals. It is the ability to characterize and profile the genetic information of individuals that has led to speculation and concern about the use and potential abuse of such information in terms of discrimination, stigmatization, and potential medical harm. Although these concerns are not new-they were previously raised in concert with early genetic diagnostic capabilities such as sickle cell carrier screening and the use of prenatal diagnosis for selective abortion-the debate about the human genome initiative brought many of these issues to the surface once again because of the scale and magnitude of the mapping effort. Whereas ethical, legal, and social concerns were previously addressed on a case-by-case basis, the accelerated pace of new discoveries from the Human Genome Project could render such an approach dangerously obsolete. The genome project will inevitably lead to genetic tests that are faster, cheaper, more accurate, and more applicable to a multitude of diseases. The effects on the conduct of biomedical research and approaches to disease treatment could be revolutionary. James D. Watson, codiscoverer of the molecular structure of DNA and a early proponent of a federal effort to map the human genome, recognized the need to confront these policy issues early in the project. He reiterated his commitment at a press conference in October 1988 announcing his appointment as the first head of the NIH Office of Human Genome Research: Some very real dilemmas exist already about the privacy of DNA. The problems are with us now, independent of the genome program, but they will be associated with it. We should devote real money to discussing these issues. People are afraid of genetic knowledge instead of seeing it as an opportunity [quoted in Roberts, 1989]. Watson felt that the NIH program should spend some of its genome money on pursuing the social, legal, and ethical issues raised by rapid advances in genetic knowledge. This belief led to the creation of the Ethical, Legal, and Social Implications (ELSI) Program, a grant-making and policymaking body within the National Institutes of Health.
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Society's Choices: Social and Ethical Decision Making in Biomedicine Watson continued to defend his surprising and somewhat controversial proposal as the months of debate about federal support for the project went on (Watson, 1988). Because concerns about the social and ethical implications of genetic research were not new in Washington-and, in fact, were the subject of several congressional hearings as well as the work of the National Academy of Sciences, Congress's Office of Technology Assessment, and the President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research (President's Commission)-some argue that Watson was wise to take the bull by the horns and preempt any attempt by policymakers to prematurely inhibit progress through overzealous regulation or legislation. The fact that the historical leader of modern American molecular genetics would argue so strongly for public funding for social studies of science was welcome news to some observers and suspect to others, who viewed the diversion of funds from science to social research as, at best, an "unavoidable political tax" that the shrewd Watson was willing to pay to accomplish scientific goals (Juengst, personal communication, April 1993). That ethics tax, like any tax, is not without controversy. While it is, at best, encouraging that the Human Genome Project has an ethics component, the value of such an organization in affecting decisions and policy remains to be seen. And some observers are downright skeptical. In the words of Judith Swazey: ELSI-an imagistically unfortunate acronym-certainly is being taken seriously by the social scientists, ethicists, lawyers, and assorted other scholars, who have seldom had such financial largesse available to them, and their studies should yield a body of interesting and in some cases practically useful findings and recommendations. But in both the short term and the long run, the significance of the ELSI component will be greatly diminished if the concerns that generated it, and its work and results, are seen by scientists and clinicians as politically necessary but basically irrelevant appendages to the "real work" of the Genome Project [Swazey, 1992]. Those who have worked closely with Watson on the creation of the National Center for Human Genome Research and its ELSI program claim that he truly believes in the need for such analyses and that the policy issues which will arise out of genome research are too important to be left to scientists alone (Cook-Deegan, personal communication, May 1993). A HISTORY OF BIOETHICAL DISCOURSE IN GENETICS IN PUBLIC POLICY Major public discussion of the social impacts of genetics date back to 1975, when the National Academy of Sciences (NAS) issued a report on genetic screening (NAS, 1975). In the same year the NAS report was
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Society's Choices: Social and Ethical Decision Making in Biomedicine released, scientists met in Asilomar, California, to discuss the safety of proceeding with recombinant DNA experiments. This meeting set off a lengthy debate not only about the safety of such research, but the roles of science in regulating itself and the public in participating in the decision making process (see Fredrickson, 1991). The debate would result in the formation of the NIH Recombinant DNA Advisory Committee (RAC), created to oversee and approve the safety of such experiments. The RAC still stands today as testimony to the ability of the scientific community to proceed cautiously in certain areas of research. But the RAC was not designed to monitor the use of the information that would arise from advances in molecular biology (i.e., genetic screening and testing), only the research that would precede such advances. In the early 1980s, the President's Commission issued reports on gene therapy and genetic screening (President's Commission, 1982; 1983), building on the earlier work of the Hastings Center (Institute of Society, Ethics, and the Life Sciences, 1972; Powledge and Fletcher, 1979) and the National Academy of Sciences (1975). The Commission's genetic screening report correctly identified issues, but languished until eight years later, when the discovery of the gene for cystic fibrosis (CF) rekindled a national debate about the social, ethical, and legal implications of widespread population carrier screening for CF. In 1990, House congressional committees asked Congress's research agency, the Office of Technology Assessment (OTA), to study the issues raised by the ability to identify carriers in terms of discrimination, stigmatization, access to health care, reproductive planning, and professional and regulatory practice (OTA, 1992). OTA reviewed policy issues and concluded that congressional action was most relevant in the areas of increasing public education and professional training, protecting against discrimination, and ensuring clinical laboratory and medical device regulation. The gene therapy report of the President's Commission, Splicing Life (President's Commission, 1983), served to ground a potentially explosive discussion and to thwart legislation under consideration (Cook-Deegan, 1994). The report was released at a hearing before Albert Gore,Jr., then a member of the House of Representatives. The hearing focused on the implications of human genetics, particularly gene therapy. Splicing Life emphasized the distinction between genetically altering somatic cells, which would not lead to inherited changes, and altering germ cells (sperm, egg cells, and their precursors), which would induce inherited changes. This distinction permitted policymakers and others to clearly understand that there were cases of gene therapy that would not be morally different from any other treatment, clearly pointing to some cases where gene therapy might be technically preferable-and morally equivalent-to other treat-
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Society's Choices: Social and Ethical Decision Making in Biomedicine ments. The report moved the debate away from vague speculations about playing God and how to thwart the technological imperative and towards prudent policies of research protocol review and processes to formulate policy (Cook-Deegan, 1994; Walters, 1992). Splicing Life recommended that the National Institutes of Health review progress in gene therapy through its Recombinant DNA Advisory Committee, and that NIH consider the broad implications of commencing gene therapy. The Recombinant DNA Advisory Committee accepted this recommendation in April 1983 and began to debate the merits of the new technology and to assess its social implications. A working group on human gene therapy was established later that year. The working group proceeded to draft "Points to Consider in the Design and Submission of Human Somatic Cell Gene Therapy Protocols," adopted in 1986 as the key document in public oversight of the new technology (Fletcher, 1990; Murray, 1990; Walters, 1992). The working group was later reconstituted as the current Human Gene Therapy Subcommittee. Thus, the work of the President's Commission and the Human Gene Therapy Subcommittee has adequately addressed concerns arising from gene therapy research. Splicing Life also noted that there was a need for public debate of genetic issues, which could be mediated by an ad hoc commission on genetics or by a standing federal bioethics commission. Representative Gore was impressed with the report and by the process that produced it. He subsequently introduced legislation to create a President's Commission on human genetic engineering, favoring permanent oversight of advances in human genetics and reproduction. This became the seed for legislation enacted in 1985 to create the Biomedical Ethics Board and Advisory Committee within the Congress, with a broader mandate than human genetics, as Gore became convinced that a broader mandate would be more useful. But the ethics of genetic research arose early on in the short history of the Biomedical Ethics Advisory Committee (Cook-Deegan, 1994; Hanna et al., 1993). In 1989 the Advisory Committee was pursuing its congressional mandate to report on ethical issues related to "human genetic engineering." LeRoy Walters of the Kennedy Institute of Ethics testified before the committee as chairman of the NIH subcommittee that oversaw gene therapy. He cited 17 reports already produced on gene therapy and observed that there was little need for another one. Furthermore, he testified, there was already a consensus on gene therapy policy at the NIH and the Food and Drug Administration. Walters then pointed to genetic tests, saying that there were many unresolved issues raised by genetic testing and screening, such as the potential for stigmatization and discrimination, that were in need of attention (Cook-Deegan, 1991). The debate over the need for a national body dedicated to analysis of
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Society's Choices: Social and Ethical Decision Making in Biomedicine social, ethical, and legal issues raised by genetic technology persisted. After moving to the Senate, as chair of the Science, Space, and Technology Subcommittee, Senator Gore held hearings in 1989 on the Human Genome Project. The need for a mechanism for addressing social, legal, and ethical issues again surfaced when Senator Gore queried a Department of Energy official about the department's intent to fund an ethical component along with its science agenda. As DOE equivocated on this question over the ensuing months, James Watson warned that if DOE did not directly fund ethics, ". . . Congress will chop your head off' (Cook-Deegan, 1994). At the same hearing, Watson had featured his plans for the ELSI program of the National Center for Human Genome Research in his opening statement before the subcommittee. Eventually, the ELSI program would be the recipient of 3 percent of the genome budget and, today, 5 percent of the NIH share. Watson has even suggested that spending could rise to the 10 percent level by 1996 (U.S. Congress, House, 1991). Gore was not alone in Congress in his concern about the use of genetic information. Others voiced concerns about potential misuse or abuse of genetic information gleaned from the Human Genome Project. Senator Orrin Hatch was concerned about increases in prenatal diagnosis and abortion. Senator Barbara Mikulski was concerned about adverse social impacts of advancing too rapidly on the Human Genome Project, and Representative David Obey raised questions about the potential for discrimination by insurers and employers as the ability to diagnosis genetic conditions is magnified through the technological advances of the Human Genome Project (Cook-Deegan, 1991). Had the BEAC survived (see note 1), issues of genetics and public policy would have been on the top of its agenda. As it was, there was no national public forum in which to analyze, debate, and recommend policy regarding issues raised by the Human Genome Project, even though groups such as the Recombinant DNA Advisory Committee of the NIH, OTA, the Institute of Medicine (IOM), and the congressional hearing process were able to contribute piecemeal to policy debates. The time was ripe for some type of action in this area. The question remains, however, whether the ELSI program the best route to take in facing the social consequences of the Human Genome Project? The Ethical, Legal, and Social Implications Program Specific funding for genome research at NIH, in general, began in fiscal year 1988, two years before the establishment of the National Center for Human Genome Research. During that two-year interval, research funds were administered by the National Institute for General Medical
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Society's Choices: Social and Ethical Decision Making in Biomedicine Sciences, and the scientific community advised NIH staff on a configuration for what is now NCHGR (NCHGR, Annual Report 1990). Then NIH director James Wyngaarden assembled a group of scientists, administrators, and science policy analysts to develop an NIH plan for the human genome project. In 1988, James Watson was named associate director for human genome research and an Office of Human Genome Research was created in the Office of the NIH director. In the following year an advisory committee was named which established working relationships with DOE and other federal agencies. Two members of the advisory committee were to play key roles in the development of the ELSI program, Nancy Wexler, President of the Hereditary Disease Foundation and on the faculty of neurology and psychiatry at Columbia University, and Victor McKusick, a medical geneticist at Johns Hopkins University and keeper of Mendelian Inheritance in Man, the largest database in the world of genetic disorders. When NCHGR was approved and funded by Congress in 1990, the advisory committee and NIH and DOE staff had already developed a five year scientific plan (NCHGR, Annual Report 1990). Part of the plan addressed ethical, legal, and social considerations, with specific directives to: Develop programs addressing the understanding of the ethical, legal, and social implications of the Human Genome Project. Identify and define the major issues and develop initial policy options to address them. The advisory committee, in its initial deliberations, decided to spin off working groups to address specific areas of the project. Nancy Wexler was to become the chair of the ELSI working group, which would eventually serve both NIH and DOE as a Joint working group. Federal rules concerning working groups are intended to make them temporary. Thus, while Wexler serves as an advisory committee member chairing the Working Group, the other six members are actually ad hoc technical consultants-serving at the pleasure of the director of NCHGR representing basic and clinical genetics, law, and ethics. If NIH were to charter the working group and make it permanent, it might speak with greater authority. On the other hand, chartering the Working Group would essentially create a commission under the genome project-a move that could both undermine its independence and give the impression of the fox guarding the chicken coop. This last concern might be adequately addressed by ensuring appropriate leadership and broader representation on the working group. It is not clear what criteria were used in selecting the members but, according to one member of the group, Watson felt strongly that Jonathan Beckwith, a molecular biologist and skeptic about the Human Genome
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Society's Choices: Social and Ethical Decision Making in Biomedicine Project, be named to the group (Cook-Deegan, personal communication, May 1993). The other members had previous experience serving on national bioethics commissions and advisory panels, or as policy analysts. Since the working group was first selected there have been repeated requests from the disabilities community and genetics disease groups for representation (Cook-Deegan, personal communication, 1993; Juengst, personal communication, April 1993). The response from the Working Group has been to invite an equal number of non-Working Group members to each meeting, depending on its topic. In addition, members of the Working Group have submitted to NIH staff the names of individuals they feel would improve the diversity and representativeness of the group. No action has been taken as of this writing because of the uncertain technical status of the Working Group and because of a wider debate about the need for a national forum for addressing bioethics which could result in a reconfiguration of ELSI in the national bioethics infrastructure. Development of an Agenda The Working Group first met in 1989 to define and develop a plan of activities. Meetings are, ostensibly, open to the public but are not publicized. At the first meeting, representatives of the National Science Foundation and the National Endowment for the Humanities were invited to present their programs for research on ethics, science, and society. After discussion, the Working Group operationalized its mission by agreeing to the following activities: stimulate research on issues through grant making; refine the research agenda through workshops, commissioned papers, and invited lectures; solicit public input through town meetings and public testimony; support the development of educational materials; and encourage international collaboration in this area. Thus, at the operational level, the Working Group developed realistic and practical goals in the model of data gathering and dissemination. In a sense, their early mission was to study what should be studied, both by policymakers and the public. In terms of policymaking, the group developed the following objectives: clarify the ethical, legal, and social consequences of mapping and sequencing the human genome through a program of targeted research; develop policy options at professional, institutional, governmental, and societal levels to ensure that genetic information is used to maximize the benefit to individuals and society;
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Society's Choices: Social and Ethical Decision Making in Biomedicine improve understanding of the issues and policy options through educational initiatives at public, professional, and policymaking levels; and stimulate public discussion of the issues and policy options. Although it is not clear whether the ELSI Working Group was prepared to take on the above listed challenges or assign them elsewhere, specific program objectives were addressed in the original five-year plan. In addition, specific topics were recommended for research support (see Table 1). In fact, much policy research had already been conducted or was under way on some of the topics listed, such as the use of genetic information by employers (OTA, 1983, 1991), its use in the criminal justice system (NRC, 1992; OTA, 1990), commercialization (Holtzman, 1989; OTA, 1987, 1988, 1989); and genetic testing when no therapy is available (Holtzman, 1989). One wonders whether the Working Group found existing work to be so inconclusive as to warrant repeat attention. Nevertheless, the development of a laundry list for topics to be addressed by future grantees is an expansive, if inefficient, method for setting priorities. Three sets of issues were identified as particularly important considerations: privacy of genetic information, safety and efficacy of new genetic testing options, and fairness in the use of genetic information. While critical, these issues are narrowly confined to what could be considered a civil liberties orientation. Were the membership of the Working Group more diverse, other equally important issues might have been placed on the agenda, such as the effects of commercial interests on the research agenda, intellectual property rights, conflicts of interest for genome scientists, and quality assurance and control beyond issues of safety and efficacy. According to several members of the Working Group, these issues were ''missed" for a variety of reasons, including lack of diversity in the Working Group. Another prominent reason, according to Working Group member Robert Cook-Deegan, is that the group operated on the premise that issues related to commercialization (e.g., conflict of interest, intellectual property, public/private interests) were being handled by other staff within NCHGR. In any case, lack of communication, erroneous assumptions, or poor judgment led to lack of attention to an important social issue that would contribute to the first policy consequence of the Human Genome Project. The issues addressed by the Working Group in their initial agenda are forward thinking and apply to the transfer of technology into clinical practice, but ignored current concerns that arise within the scientific culture as most of the work is still in the research stage. There is no evidence that the ELSI Working Group ever directly addressed issues related to the effect of the Human Genome Project on the scientific enterprise. Only one grant
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Society's Choices: Social and Ethical Decision Making in Biomedicine TABLE 1 Working Group Topics Suggested for Research Support Fairness in the use of genetic information • insurance • employment • the criminal justice system • the education system • adoptions • the military The impact of knowledge of genetic variation on the individual • stigmatization • ostracism • labeling • individual psychological responses Privacy and confidentiality • ownership and control of genetic information • consent issues The impact of the Human Genome Project on genetic counseling • prenatal testing • pre-symptomatic testing • carrier status testing • testing when there is no therapeutic remedy • counseling and testing for polygenic disorders • population screening versus testing Reproductive decisions influenced by genetic information • effect of genetic information on options available • use of genetic information in the decision-making process Issues raised by the introduction of genetics into mainstream medical practice • qualifications and continuing education of all appropriate medical and allied health personnel • standards and quality control • education of patients • education of the general public Uses and misuses of genetics in the past and the relevance to the present • the eugenics movement in the United States and abroad • problems arising from screening for sickle-cell trait and other recent examples • the misuse of behavioral genetics to advance eugenics or prejudicial stereotypes Commercialization of the products of the Human Genome Project • intellectual property rights • property rights • impact on scientific collaboration and candor • accessibility of data and materials Conceptual and philosophical implications of the Human Genome Project • the concept of human responsibility • the issue of free will versus determinism • the concept of genetic disease SOURCE: Adapted from Understanding Our Genetic Inheritance: The U.S. Human Genome Project: The First Five Years, FY 1991-1995, U.S. Department of Health and Human Senices, Public Health Service, National Institutes of Health, and U.S. Department of Energy, Office of Energy Research, Office of Health and Environmental Research (Bethesda, MD: National Center for Human Genome Research, NIH Publication No. 90-1580, April 1990).
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Society's Choices: Social and Ethical Decision Making in Biomedicine was awarded that was directly related. In 1992, $100,000 was awarded for the study of academic-industry relationships in genetics. The issues of patenting CDNA and potential conflicts of interest for genome office officials and researchers would eventually bring the genome project's director, James Watson, in direct confrontation with Bernadine Healy, then Director of NIH, and would later contribute to his resignation. Meanwhile, the issue was assigned by Congress for analysis to OTA and by the executive branch to the Federal Coordinating Committee on Science and Technology (FCCSET) committee of the White House Office of Science and Technology Policy. The representativeness of the Working Group is not sufficiently broad to ensure that priority-setting will be reflective of society. For example, a major mission of the Working Group has been evaluating issues pertaining to genetic information and insurance but there are no representatives on the Working Group of the insurance industry, consumers, employers who self-insure, or their employees. The Working Group's involvement in developing a statement on the Americans with Disabilities Act was initiated despite a lack of representation from disabilities or civil rights groups, although their views were solicited. A report of the House Committee on Government Operations noted: "These interests do not necessarily need to participate in developing a genetic information research agenda. They must be involved in developing a genetic information policy agenda" (U.S. Congress, House, 1992, p. 27). Beyond setting a research agenda, the NCHGR's ELSI program was assigned the broad goal of "developing the safeguards required as new genetic information is put to practical purposes" (NCHGR, Annual Report, 1990, p. 35). The language of NCHGR literature is filled with ambitious verbiage such as "develop sound policy recommendations that will govern the confidentiality of genetic test results, insure equal access to adequate education and counseling for patients, establish minimum qualifications for clinicians, assure quality control for genetic tests, establish guidelines for genetic testing programs, and define ethical and legal responsibilities of clinicians who perform tests" (NCHGR, Annual Report, 1990). These are awesome goals for an entire government, let alone a working group of seven people. The basic flaw in the design of the ELSI program and its Working Group, to be argued later, is that is has no authority to affect policy and no clear route for communicating the information it gathers to the policy arena. This dilemma has been the subject of debate at virtually every meeting of the Working Group as it has grappled with its role in policymaking and the best route to affect decision making in this area (Cook-Deegan, personal communication, May 1993; King, personal communication, May 1993).
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Society's Choices: Social and Ethical Decision Making in Biomedicine Because it has never been tested, the ability of the ELSI Working Group to clear any recommendations through the executive branch hierarchy is purely speculative. It is hard to imagine that such recommendations would survive intact the delays and interference inherent in such a process. If, however, ELSI were to produce analytical policy documents, the information would become part of the general debate, not necessarily exclusively for consumption by the executive branch. That contribution alone is worth pursuing. ELSI's Forays into Policymaking The controversy over ELSI's role in the policymaking process has followed it throughout its history. Even within the Working Group there is disagreement about its role in policymaking and there have been numerous discussions about the lack of clarity in its mandate (Cook-Deegan, personal communication, May 1993; King, personal communication, May 1993). Although NCHGR literature cites the policymaking role as a mission of ELSI, and appropriations language from Congress has repeatedly prescribed a policymaking function, only recently has proposed legislation codified the role of ELSI in the policy process (S. 1 and H.R. 4). General language charging ELSI with a policy function has not been sufficient in providing a mechanism by which to implement that function. The distraction of the grants program has prevented ELSI staff from having the time or resources to produce policy documents. If ELSI is to recommend policy in the same manner as the President's Commission, OTA, or IOM, it is ill-equipped to do so in a timely fashion. It lacks diversity, staff, and a clear-cut mechanism for transmitting its recommendations. It is impossible to expect that ELSI staff can administer a grants program, organize ELSI meetings, write policy papers, and prepare publications. Instead, the Working Group has chosen a variety of mechanisms to assist in the policy process. The largest effort has been to set policy through the extramural program, as is being done in the cystic fibrosis pilot projects (described below). Less ambitious efforts have been through a lengthy information collecting process that has, in one case, resulted in a policy statement on the Americans with Disabilities Act, and in another a report issued in 1993 on insurance aspects of genetic information. Each effort is described below. Population Carrier Screening for Cystic Fibrosis The first singular issue taken on by ELSI involved the use of a new diagnostic test to determine carrier status for cystic fibrosis (CF), a lethal autosomal recessive disorder prevalent in the Caucasian population. The
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Society's Choices: Social and Ethical Decision Making in Biomedicine gene for CF was discovered in 1988 and, initially, the most common mutation could be found in approximately 70 percent of carriers. As more mutations have been found the ability of the test to detect carriers has improved to nearly 90 percent, and in some cases, 95 percent. When widespread carrier screening was first contemplated, policy analysts and bioethicists saw CF as an important test case for the application of future genetic tests. The ability of genetic services and the public to assimilate and interpret this test would provide useful precedential information regarding the introduction of genetic tests developed through the Human Genome Project. Opponents of routine CF carrier screening argued that past experiences with genetic screening programs do not adequately address potential adverse consequences raised by widespread screening, and argued vociferously for federally funded pilot projects specific to CF. Despite these concerns, federally funded pilot projects were not quick to come (Roberts, 1990). At the urging of James Watson, who urged ELSI to stretch its self definition, the Working Group decided to go beyond its reconnaissance mission and seek funds for pilot projects to assess the impact of wide-scale population carrier screening for CF (Juengst, personal communication, April 1993). To analyze the implications for genome research, the ELSI Working Group convened a workshop in September 1990, inviting 12 experts from various sectors of genetic services to discuss the technical status of CF testing and to outline the policy issues facing the nation (NIH-DOE Workshop Report, 1990). The Working Group identified the following issues to be considered in preparing for the introduction of new tests such as CF: (1) the need for trial testing and screening programs; (2) assessment of how genetic tests are paid for; (3) professional education; (4) public education; (5) laboratory quality control; (6) informed consent and confidentiality; and 7) discrimination against families at genetic risk. The Working Group was sufficiently concerned about these issues to forward a resolution to the NCHGR Advisory Committee recommending that NCHGR take a leadership role in developing support for funding pilot research projects. Meanwhile, OTA had initiated a study of these issues at the request of two House committees (OTA, 1992). In April 1991, NCHGR issued a request for applications (RFA) for studies of testing and counseling for cystic fibrosis mutations. A series of questions was presented in the RFA describing the research goals of the pilot projects, viz., to gather information that can be used to "identify clinical practices that best increase patient understanding of disease-gene carrier testing and test results, and best protect individuals and families from test-related psychological harm, stigmatization and discrimination."
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Society's Choices: Social and Ethical Decision Making in Biomedicine The RFA also stressed the importance of coordination between grantees through workshops to be convened by NIH. Eight clinical research institutions received a total of $1 million in late 1991 to start work in 1992. This studied approach to understanding the complexities of CF carrier screening is certainly needed and will, no doubt, be useful information in devising strategies for offering future tests. Its timeliness, however, in terms of contributing to the policy debate, is remarkably delayed. The OTA report on CF carrier screening was released in August 1992 citing several policy options to be considered by Congress, including professional and public education, discrimination, and clinical laboratory and medical device regulations. The OTA report concluded that CF carrier screening was quickly entering the realm of genetics practice and saw little need for congressional action other than through oversight and regulation. By early 1993, the cost of CF carrier screening had dropped dramatically, the sensitivity of the test had risen to 90 to 95 percent, and much of the debate about its use had subsided. Any incremental gain that will be gleaned from the federally funded studies will inform the counseling process but is insufficient to a priori prevent routine screening from proceeding (OTA, 1992). Thus, the pilot studies, unless they reveal unpredictable and surprising results, will contribute little to the policy debate but will provide useful information to the clinical research community and future recipients of new diagnostic tests. Supporting research to address a policy issue is useful around the margins but ineffective if not constrained in time or place. When the consortium does report its results, it is not clear who the policy audience will be. This is not meant to undermine the value of the pilot study process to the clinical genetics community. The lag in time between consideration of the issue and the production of useful results leaves a void for practitioners and attorneys, who must rely on pronouncements regarding the standard of care generated amidst much controversy. And the lack of an authoritative voice leaves room for commercial interests to move ahead unfettered. In a positive way, however, through the CF pilot studies, the ELSI program established an important professional policy precedent: incorporating assessment of psycho social impact into clinical studies usually dominated by concerns of medical safety, reliability, and efficacy. Other institutes within NIH would later follow suit, with the National Cancer Institute adding client-centered assessment guidelines in evaluating the clinical use of the p53 genetic marker for increased cancer risk in families (Li et al., 1992). Thus, the ELSI Working Group, through its approach to the CF pilot studies, has had an impact on the practice of clinical investigation, an impact that should be emphasized when assessing ELSI's role in affecting change.
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Society's Choices: Social and Ethical Decision Making in Biomedicine Pedigree Studies Workshop Another example of the ELSI program's unique ability to assist the Public Health service in developing sound research practices came with a workshop it cofunded with the National Institute of Mental Health (NIMH) and the Office for Protection from Research Risks (OPRR) of NIH. The workshop was convened to discuss the special considerations needed when conducting genetic research on extended families. Issues such as discrimination and stigmatization and the need to ensure confidentiality while recruiting family members for study fall directly in the domain of NIMH and OPRR. These issues were initially raised by genetic disease support group representatives at an ELSI Working Group workshop on privacy issues in 1991 and confirmed as important at an ELSI-funded conference in 1992. In response NCHGR and OPRR collaborated to convene yet another working group to develop guidance for investigators and research review boards considering genetic studies of families. The guidance was to be available sometime in 1993 (NCHGR, 1993 draft annual report). Although the bureaucratic response can be painfully slow, the final result will be better guidance for investigators and, presumably, better protection for families with genetic disease. Insurance Task Force Since its inception, the joint NIH-DOE Working Group focused on its concerns regarding the insurability of individuals diagnosed with genetic disease, or predisposition or susceptibility to disease. The Working Group has also made the fair use of genetic information by employers a priority issue. In January 1991, the Working Group formed the Task Force on Genetics and Insurance to gather information and prepare a report of policy options to prevent discriminatory use of genetic information by insurance companies and policy purchasers. The Task Force includes representatives from the insurance industry, corporate benefit plans, consumer and health voluntary groups, and scholars researching insurance issues (NIH-DOE, 1993). This group plans to formulate principles and policy options for addressing the major issues identified by the group. These issues have been identified through several information-gathering meetings. A draft of the Task Force's final report written by NIH staff was circulated for discussion at a November 1992 meeting of the Insurance Task Force. Another meeting to discuss the draft report and policy options was held in early 1993 and the final report was published in May 1993. Several additional federal and private sector efforts aimed at studying
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Society's Choices: Social and Ethical Decision Making in Biomedicine the insurance and discrimination consequences of the Human Genome Project have been initiated, resulting in a variety of products. These efforts include projects of IOM (funded through ELSI), OTA, American Council of Life Insurance (ACLI) and the Health Insurance Association of America (HIAA) Task Force on Genetic Testing. Thus, ELSI was not the first or the only group to tackle these issues. In addition to the work of the ELSI Insurance Task Force, several projects pertaining to insurance and genetic information have been funded through the ELSI grant-making mechanisms. These range from conferences with sessions devoted to insurance issues to interdisciplinary, multiyear projects focused solely on insurance issues, resulting in journal articles and conference proceedings. Policies regarding genetics and insurance are difficult to tackle because of the diffuse and complex nature of insurance. One wonders what impact ELSI can have other than participating in the debate and ensuring that the appropriate parties are invited to the table. In fact, the insurance industry has already moved to address these issues internally. The major trade associations of the health and life insurance industries (HIAA and ACLI) have embarked on several initiatives related to genetic information and insurance. A CEO-level joint task force on genetic testing was formed to assess the public policy implications of the emerging technology. In late 1992, the task force issued a report on genetic testing with recommendations on the industry response (ACLI/HIAA, 1991). The report encourages industry to deal with the genetic testing issue now, while the technology is still emerging and public opinion is not yet set (Chase, 1992). A report of the ACLI's Subcommittee on Privacy Legislation accompanied its task force report on genetic testing. This report encouraged insurers to adopt voluntary confidentiality programs at the corporate level as well as support uniform state privacy legislation. It also contained specific recommendations regarding the privacy of genetic information. A conference for insurance medical directors on genetic issues in insurance medicine'' was held in February 1993, cosponsored by the American Academy of Insurance Medicine, ACLI, HIAA, and the American Society of Human Genetics. The conference addressed current genetic technology as it applies to insurance risk assessment. Similar conferences have been held for insurance medical directors in the past on new medical developments. Again, the fact that other groups have already been assembled, collected information, and issued reports with recommendations is evidence that the ELSI process, as currently configured, is inadequate for making policy because in order to be most effective, ELSI must be in front of, not behind, an issue. Perhaps ELSI's academic approach to policymaking
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Society's Choices: Social and Ethical Decision Making in Biomedicine reflects its unease with its perceived lack of authority to assemble the findings of the research, identify the values involved, and offer a coherent set of recommendations. Perhaps it merely reflects a lack of adequate staff and resources. Whatever the outcome of the Insurance Task Force deliberations, it is hard to imagine an entire community of insurers, employers, labor unions, civil liberties groups, and health care providers accepting the recommendations of a small group of individuals with no clear authority when their respective parent organizations have already taken a stand. At best, the Task Force report can be marketed as a voice of moral authority that can guide ongoing debates. Statement on Americans with Disabilities Act In April 1991 the ELSI Working Group convened experts from law, the humanities, genetics, and voluntary health organizations to discuss the Americans with Disabilities Act (ADA) to determine the effect of the law on individuals with identified disease or susceptibility genes. This meeting resulted in an ELSI statement to the Equal Employment Opportunity Commission identifying three areas in which significant changes to the EEOC regulations should be made to improve ADA's protections against genetic discrimination in the workplace (Joint Working Group, 1991): discriminatory actions based on genotype, including the possibility of having affected children, should be covered by the ADA; post-offer, employment entrance medical examinations should be limited to assessing job-related physical and mental conditions; and limits should be enacted to protect the genetic privacy of employees. The EEOC responded to the concerns raised by the Working Group but none of the recommendations were incorporated into the final EEOC regulations implementing the ADA. However, this should not be considered a diminution of ELSI's efforts. This type of direct communication between two federal bureaucracies is beneficial and noteworthy and perhaps one of the best uses of the information gathered by ELSI through its workshops and grantees. Were ELSI to routinely to serve as a conduit for getting information into the decision-making apparatuses of government, there would better information about the use of genetic technologies throughout the government so that those with the authority to govern could make more informed decisions. The statement on the ADA was one of the few instances where the Working Group rapidly took a strong stand on issues important to them. A lack of response from the EEOC reflects the strength of the legislative compromise that led to the enactment of the ADA. Amendments, no matter where they arise, will be difficult to achieve.
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Society's Choices: Social and Ethical Decision Making in Biomedicine CONCLUSIONS The ELSI program is a unique effort aimed at assessing the social consequences of the Human Genome Project. To date, it is the only extant national forum that can speak with authority about the ethical, legal, and social implications of genetic technologies. As such, it has both great potential and tremendous drawbacks. In many ways, the future policymaking power of the ELSI program lies within its Working Group and its willingness to change its direction, expand its mandate, assert itself, and produce results that are not only accessible but far reaching. Although ELSI, the grant-making body, has been conferred branch status in the NIH bureaucracy, ELSI, the policymaking body, seems very much a temporary organization. If it is to be deliberative, offering judgment and policy, then its base is far too narrow and its staff much too small. ELSI has the potential to contribute in numerous ways to the policy debate about genetic technology. Given its place in the federal bureaucracy, it is in a unique position to advise the Public Health Service on issues related to genetic research and clinical genetics. Its ability to do this has been demonstrated through its work on CF pilot projects and pedigree studies. It can also serve a useful reconnaissance or watchdog function by alerting other federal agencies about genetics issues that fall within their domain, as it did with its statement to the EEOC regarding the Americans with Disabilities Act. But if it is to pursue these activities with due diligence then it must demand a research staff skilled in such policy tasks. Furthermore, it must find a mechanism for publishing its deliberations. In fact, one of ELSI's most tenable contributions is its potential to improve professional and public understanding of genetic issues. The ELSI program has the power to do what a broad-based commission cannot, fund the development of educational materials regarding clinical genetics and the human genome. Among its education support activities, for example, is support of a two-year project by the Council of State Governments to educate state government officials and legislators about genetic issues. This type of direct communication of information to state policymakers is useful and fills a void. ELSI's support of educational activities will contribute to stimulating public interest and sophistication about the social issues of the Human Genome Project. Commissions can be representative, build public support, add authority or legitimate activity, or reassure. Or, in the words of political scientist David Flitner, they can be "used as a tool for surmounting the pathologies of organizational complexity" (1986). It is not clear that the ELSI program, as currently configured, can do any of these things. Although it remains untested, its ability to surmount the pathologies of organizational complexity within the Department of Health and Human Services is dubi-
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Society's Choices: Social and Ethical Decision Making in Biomedicine ous. It is worth mentioning that if the Ethics Advisory Board (EAB) of the NIH is reconstituted, some of the issues addressed in theory by ELSI grantees might be considered in practice by a body charged with the review of specific controversial research protocols. It is possible that the current uncertainty regarding the reestablishment of a national forum for bioethics contributes to the tentative nature of ELSI's policymaking powers. If the ELSI Working Group is to confront issues in a timely manner, reliance on the extramural grants process is too elitist and far too slow. Were the ELSI Working Group to become a larger, more diverse group of individuals, it might rely on the courage of its convictions to forge ahead of the grantees is issuing policy recommendations. The narrow base of the current group precludes this confidence. As Tom Murray stated in the quote that introduced this manuscript, the Working Group as currently constituted "lack[s] the moral and political authority to decide what ought to be done." Members of the Working Group are keenly aware of these limitations, and themselves face the quandary of how to engage in policy. The growth of the field of bioethics and growth in the number of individuals who are described as bioethicists has enhanced the analytical capacity of the nation to discuss bioethical issues. These developments also run the risk of breeding discussions that are ingrown and out of touch with the real world of the practitioner or the public. Thus, any new organization developed to address social and ethical issues must be representative of society, not just organized bioethics and science policy. The ELSI program, in its current configuration, runs the risk of being an overly academic, highly inbred mechanism for addressing issues of broad social impact. In order for it to be effective, it must diversify. And, ELSI must find a way to analyze, synthesize, and disseminate the results of its deliberations. Otherwise, it will be remembered as a missed opportunity to aggressively address the complex social issues raised by the Human Genome Project. NOTE 1. The Biomedical Ethics Advisory Committee (BEAC) was a 14-member group whose multidisciplinary membership was appointed by the Biomedical Ethics Board (BEB), comprised of 12 members of Congress-three each from the majority and minority parties of the House and Senate. The BEAC ceased to exist before ever issuing a single report as a result of irresolvable moral conflicts over abortion rights on the part of the BEB. REFERENCES American Council of Life Insurance and Health Insurance Association of America. 1991. Report of the ACLI-HIAA Task Force on Genetic Testing. Washington, DC: American Council of Life Insurance.
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Representative terms from entire chapter: