ELSI Program Reports

Review of the Ethical, Legal and Social Implications Research Program and Related Activities (1990-1995)

Executive Summary

When the Human Genome Project (HGP) was being established, concerns were raised about how the new genetic information would be used and how individuals and society could be protected from possible harm. The Ethical, Legal, and Social Implications of Human Genetics Research (ELSI) program was developed to examine these issues and assist in the development of policy recommendations and guidelines to ensure that genetic information is used appropriately. To accomplish this, the ELSI program was charged with 1) developing a program to help understand the implications of the Human Genome Project (HGP), and 2) identifying and defining the major issues of concern and developing initial policy options to address them.

Now in its sixth year, the ELSI program at the National Center for Human Genome Research (NHGRI) has not only met these goals, but has moved beyond them to set the agenda for future work in this area. A robust research and education program has been established to examine the ethical, legal and social implications of genome research and a number of workshops and policy fora have been held to identify the most urgent ELSI issues and develop appropriate policy recommendations.

To accomplish its goals, the NHGRI/ELSI program has established a number of functional components to address specific areas including: a joint NIH/DOE Working Group to analyze critical issues and provide guidance to the NIH and DOE; an extramural ELSI Branch responsible for supporting research studies and education projects addressing ELSI issues; an Office of Policy Coordination to address specific policy concerns raised by the HGP; and a newly formed Intramural Genome Ethics Office that will provide advice to the intramural research program.

A vital component of the ELSI program is the extramural research effort, which has funded over 125 research and education projects and related activities. These projects have resulted in the rapid increase in understanding of ELSI issues, the publication of over 150 journal articles and books, the development of education programs aimed at health professionals and the general public and the establishment of policy recommendations on issues ranging from the use of genetic tests to preventing discrimination based on genetic information.

As the ELSI program has evolved, four high priority areas have emerged:

  • Privacy and fairness in the use and interpretation of genetic information.
  • Clinical integration of new genetic technologies.
  • Issues surrounding genetics research.
  • Public and professional education.

As the findings of the ELSI projects and activities have been gathered and analyzed, the ELSI program has been able to more clearly articulate its highest priorities in research, policy development and education and has recently released a revised program announcement which will serve to further focus future program activities.

This report reviews and summarizes the many accomplishments of the ELSI program. Through the foresight of the planners of the HGP, the ethical, legal and social concerns that arise from new genetic breakthroughs are now being addressed and policies established before these issues develop into serious problems. However, as ELSI issues are better understood and defined, the ELSI program will need help from many others in the health professional, regulatory and legislative communities to ensure that the policies and legislation that result from the ELSI program's efforts will effectively meet the needs of individuals and society.

INTRODUCTION

The HGP is a worldwide research effort with the goal of analyzing the structure of human DNA, by determining the location of the estimated 100,000 genes in the human genome and identifying the sequence of its 3,000,000,000 base pairs. The information generated by the HGP will be a major resource for all the areas of basic and applied biomedical and behavioral research in the 21st century. The products of the HGP will benefit science, medicine and health by improving knowledge of human growth and development and the unlimited nature of human variability. It will enhance the understanding of both health and diseases in which genes have a role and lead to the development of treatments for many of the thousands of disorders that now affect humankind.

The U.S. HGP is led by two federal agencies, the National Institutes of Health (NIH), through NHGRI and the DOE, through its Office of Health and Environmental Research (OHER). The four major goals of the HGP include: mapping and sequencing the human genome; mapping and sequencing the DNA of model organisms; computerized data collection, storage and handling of this information; and examining and addressing the related ethical, legal and social implications.

From its inception, the planners of the HGP recognized that mapping and sequencing the human genome would have profound implications for individuals, families, and society. They questioned how this new genetic information should be interpreted and used, who should have access to it, and how to best protect people from possible harm. They expressed concern that information would be gained that might result in anxiety, stigmatization and discrimination, might not be able to be kept confidential, particularly if the individual is given their research/test results, and might initially offer little hope for treatment or prevention.

Although the HGP is already producing information which is leading to the detection and diagnosis of genetic disorders, the long-range goal is to go beyond this to provide improved treatment, prevention, and ultimately cures. The interim phase, the phase in which detection is possible, understanding is limited and treatment is unavailable, has been identified as the period in which the most significant deleterious consequences might arise.

To address these concerns, the architects of the HGP established the Ethical, Legal and Social Implications (ELSI) Research Program as an integral part of the HGP. The establishment of the ELSI program was viewed as vital to the success of the HGP. It provided a novel approach for studying the ethical, legal and social issues at the same time that the basic scientific issues were being studied. To fund this initiative, the National Human Genome Research Institute committed initially 3 percent and later 5 percent of its budget to studying and addressing these issues. The DOE has similarly established an ELSI program, however, this report summarizes only the activities of the National Center for Human Genome Research.

GOALS OF THE ELSI PROGRAM

At the time the ELSI program was created, very broad overarching goals were identified. They included: anticipating and addressing the implications for individuals and society; examining the ethical, legal, and social consequences of mapping and sequencing the human genome; stimulating public discussion of the issues; and developing policy options that would assure that the information generated is used for the benefit of individuals and society. Specifically, in the first five years, the ELSI program was charged with:

  • Developing a program to help understand the ethical, legal and social implications of the Human Genome Project.
  • Identifying and defining the major issues of concern and developing initial policy options to address them.

Five years into the HGP, the basic scientific goals are being met, some even ahead of schedule. The genetic maps are complete. The physical maps are being completed. Databases to store and manage mapping and sequencing information have been established. Large-scale, pilot sequencing projects are now beginning.

The first five-year goals of the ELSI program have also been met. A research and education program has been established which is designed to examine the ethical, legal, and social implications surrounding the HGP and the most urgent issues of concern have been identified. However, while a number of policy options have been developed and implemented, it has become clear that some of the issues that have been identified are highly complex and controversial. Reaching consensus about such issues is not easy. Some of the issues are of such magnitude as to require substantial changes in our society's institutions (including health care and insurance systems) in order for this new information to be put to its optimal use.

GOAL 1: DEVELOP PROGRAMS ADDRESSED AT UNDERSTANDING THE ETHICAL, LEGAL AND SOCIAL IMPLICATIONS OF THE HUMAN GENOME PROJECT

Over the past five years the NHGRI has utilized a variety of mechanisms to further identify, analyze, and address the ethical, legal, and social issues surrounding the HGP. It has accomplished this by the acquisition of new knowledge through the funding of basic and applied research grants and education programs and the sponsorship of workshops and policy fora. NHGRI supports several components to accomplish its identified ELSI goals. They include the NIH/DOE Joint Working Group on Ethical, Legal, and Social Implications (ELSI Working Group), the Extramural ELSI Branch, the Office of Policy Coordination (OPC), and the Intramural Genome Ethics Office (IGEO).

Formed in 1989, the ELSI Working Group has provided overall guidance to the NHGRI and OHER ELSI programs, facilitated a number of early policy discussions, and participated in the development of a number of policy options and recommendations related to these issues. The Working Group has also spun off two task forces aimed at analyzing and developing recommendations about 1) genetic information and health insurance and 2) genetic testing. The Task Force on Genetic Information and Insurance, whose report was published in 1994, was charged with examining genetic information and health insurance. The Task Force's recommendations have been utilized in a number of legislative proposals related to health care reform. The Task Force on Genetic Testing, whose report is due in early 1997, is examining issues surrounding the quality and marketing of genetic tests. A document summarizing a set of interim principles has recently been released for public comment (March, 1996).

The Extramural ELSI Branch, which was established in 1990, is responsible for supporting studies designed to examine ELSI issues. It funds and manages research grants and education projects at institutions throughout the United States and supports workshops, research consortia, and policy fora related to funded research and education projects. Established in 1995, the Office of Policy Coordination (OPC) provides information and analysis on ELSI policy issues, directly sponsors policy fora, and supports the work of the ELSI Working Group. The NHGRI's Intramural Ethics program is now being established to assist intramural genome researchers to identify and address ethical issues arising from genome research.

The ELSI program budget has increased from 3 percent in fiscal year (FY) 1990 ($1.5 million) to 4.7 percent in FY 91 to an average of 5.1 percent in fiscal years 92-95 ($6.3 million in FY 1995). This contribution currently represents the largest single investment in bioethical research from any one source.

The ELSI program has also established collaborative and co-funding relationships with a number of other NIH Institutes, such as the National Cancer Institute (NCI), the National Institute of Child Health and Human Development (NICHD), the National Institute of Mental Health (NIMH), and the National Institute of Nursing Research (NINR).

It has also formed strong cooperative relationships with a number of other federal agencies, such as the Department of Energy (DOE), the National Centers for Disease Control and Prevention (CDC), the Health Resources Services Administration (HRSA), the National Science Foundation (NSF), and the Food and Drug Administration (FDA), to name a few. Further signs of the ELSI program's acceptance and success are the establishment of similar programs in other countries participating in the Human Genome Project (e.g. Canada, UK, Japan); its cooperation with many other NIH components and other agencies who have sought guidance from the ELSI program in a number of these areas (e.g. National Institute of General Medical Sciences (NIGMS), NCI, NIMH, CDC ); and the recent co-sponsorship of a number of ELSI program initiatives, including ELSI's revised Program Announcement (NIMH and NINR).

GOAL 2: IDENTIFY AND DEFINE THE MAJOR ISSUES AND DEVELOP INITIAL POLICY OPTIONS TO ADDRESS THEM.

The ELSI program has developed a vital and robust research program at the NIH to identify and define the ethical, legal and social implications surrounding the HGP. The initial program announcement, published in 1990, cast a very broad net to accomplish this goal. The original issues identified in the ELSI program announcement were: questions of fairness in the use of genetic information; the impact of genetic information on individuals; privacy and confidentiality of genetic information; the impact of the HGP on genetic counseling; the impact of genetic information on reproductive decision-making; the impact of genetic information on medical practice; the uses and misuses of genetics in the past; questions of commercialization; and conceptual and philosophical implications raised by the HGP.

During its existence, the number and type of research and education applications being submitted to the ELSI Branch has grown significantly (from just over 20 applications in the first year to an average of 75 applications per year since that time). Since the beginning of the program, of those applications accepted, the ELSI Branch has been able to fund between 20 and 25 percent. The investigators seeking funding through the ELSI program come from a wide range of disciplines; from bioethics and philosophy to psychology, sociology, medicine and law. Forty-six percent of principal investigators currently funded by ELSI are women and a substantial number are young investigators or new applicants to the NIH.

As a result of the ELSI Branch's initial Program Announcement, a number of research and education projects designed to address a set of highly diverse issues were funded. The diversity and sophistication of the extramural research and education program has increased significantly over the past five years. To this point in time, 126 research and education projects and related activities have been funded. These efforts have resulted in the accrual of empiric information about ethical, legal and social issues surrounding genetics research and the discovery and use of genetic information; an assessment of the impact of knowledge and attitudes about genetic information; and the impact of the increasing clinical integration of these new technologies. During this period, four high priority areas have emerged. (see table)

These include:

  • Privacy and fairness in the use and interpretation of genetic information.
  • Clinical integration of new genetic technologies.
  • Issues surrounding genetics research.
  • Public and professional education.

As a result of the evolution and maturation of these four high priority areas, the ELSI program has now more clearly articulated its highest priority research and policy areas for the next several years and has recently released a revised Program Announcement. 1 Although much work has already occurred in the above-identified areas, it is anticipated that the revised statement of priorities will serve to focus future program activities even further.

HIGH PRIORITY PROGRAM AREAS

1. PRIVACY AND FAIRNESS IN THE USE AND INTERPRETATION OF GENETIC INFORMATION

Genetic information is being discovered at an increasingly remarkable pace. In some cases, however, not enough is known about the meaning of genetic information or how it is being interpreted and used. The risk of genetic discrimination grows as new disease susceptibility genes are identified. Genetic research results are attracting a great deal of attention, yet often, information that is presented about discoveries is confusing, misleading, or factually incorrect. As more genetic factors are identified as causes for and predictors of human diseases, a new framework for defining the meaning of health, disease and predisposition to disease may need to be developed.

Research Grants

In attempting to clarify these issues, the ELSI Branch has funded thirty-one research projects designed to examine the use (or misuse) and interpretation (or misinterpretation) of genetic information. Some research projects are also designed to study the philosophical underpinnings and conceptual assumptions underlying the meaning and use of genetic information. Research related to genetic privacy and genetic discrimination is also being funded. Policies regarding the appropriate use and interpretation of genetic information are also being explored and developed.

One important area in which ELSI has supported research is the area of genetic information and health insurance. One project (Case Western Reserve-Murray) provided an overview of the impact of the human genome initiative on access to medicine, health care, health insurance and the distribution of scarce medical resources. This project will lead to recommendations regarding future policies in these areas. Another project (University of Florida-Moseley) has examined the types of genetic testing and screening techniques that are being developed, and is now evaluating their implications for insurers. These investigators have also examined social and economic incentives and disincentives to the use of genetic technologies and are developing policy options and guidelines for the future. A third project (Hopkins-Faden) will collect empirical data concerning the values, beliefs, and experiences of persons (or family members) with genetic conditions regarding informational privacy and access to health insurance in the context of health care reform. The data obtained will identify implications for public policy.

Two projects funded by the ELSI program were designed to examine forensic uses of DNA technologies. The first (National Research Council-Zaborsky) examined the suitability of using genetic technologies for forensic and other law enforcement uses; the need for standards; the development and application of supporting technology and instrumentation; the current understanding of the statistics and population genetics required in the interpretation of the data; and the social, legal and ethical issues surrounding the use of these technologies. 2 A follow-up study (National Institute of Justice-Rau) co-funded by the ELSI program in collaboration with other NIH Institutes and Centers (IC), will examine unresolved issues in the statistical evaluation of DNA forensic evidence, taking advantage of new information now available in an attempt to resolve some aspects of the continuing debate.

Another project (University of Michigan-Citrin) will develop opportunities to give the public an advance look at emerging genetic technologies. This project is seeking input from lay and professional communities about how each feels about genetic technologies. The investigators will work with these communities to formulate model laws, institutional policies, professional standards of practice and applications to clinical decision-making. The outcome will be the development of a mechanism by which public policies can be formulated including a careful assessment of the attitudes and values of the public.

One other NHGRI-funded study is designed to examine the assumptions made in medicine about health, normality, disease causation, and disease susceptibility (University of Maryland-Wachbroit). A second study is designed to explore the meaning of human genetics in popular culture (New York University-Nelkin). Gaining insight into both medical and popular ideas about the interpretation and understanding of genetic information can help in understanding the impact of this information on health care decisions, human relationships and social policies.

Other Activities

As far back as 1990, members of the ELSI Working Group and the ELSI program staff had interactions with the U.S. Equal Employment Opportunity Commission (EEOC) expressing concerns about the lack of employment protections in place for individuals who might be identified to have genetic predisposition to disease. There were fears that although individuals with disabilities would be protected from discrimination under the Americans with Disabilities Act (ADA), individuals who were suspected or known to have a genetic predisposition to develop a disability or have children with disabilities would not be protected. As a result of discussions with the ELSI Working Group, ELSI program staff, and ELSI grantees and the Commissioners' deliberations, the EEOC provided guidance on March 15, 1995 that clarifies that protection under the ADA extends to individuals who may be discriminated against in employment decisions based on genetic information.

The ELSI Working Group has long been concerned about the fair use of genetic information, particularly as it relates to health insurance. In response to this concern, the ELSI Working Group spun off its first task force in 1991 on genetic information and health insurance. The Task Force released its recommendations in 1993, which include among others, recommendations that would prohibit the use of genetic information in denying or limiting health care coverage or services and ensure universal access to and participation in a program of basic health services, including genetic health care services. 3

Genetic discrimination is also a priority for the National Action Plan on Breast Cancer (NAPBC), a public-private partnership established to address the research, education, and policy issues in breast cancer. Building on their shared concerns, the ELSI Working Group and the NAPBC co-sponsored a workshop on July 11, 1995, to address the issue of genetic discrimination and health insurance. Based on the information presented at the workshop and subsequent discussions, the ELSI Working Group, the NAPBC, and NHGRI staff developed and published recommendations designed to protect against genetic discrimination. 4

Since the publication of these recommendations, several bills have been introduced in State legislatures and the U.S. Congress to address the issue of genetic discrimination in health insurance (e.g. Genetic Privacy and Nondiscrimination Act of 1995 by Sen. Mark Hatfield, Genetic Privacy and Nondiscrimination Act of 1995 by Rep. Clifford Stearns, Genetic Information Nondiscrimination in Health Insurance Act of 1995 by Rep. Louise Slaughter, Genetic Fairness Act of 1996 by Sen. Diane Feinstein). The NAPBC/ELSI Working Group recommendations were considered during the development of a number of these bills. They were also taken into consideration in the deliberations about broader health insurance reform.

2. CLINICAL INTEGRATION OF NEW GENETIC TECHNOLOGIES

As a result of the HGP, genetic technologies have developed at a rapid rate. Disease genes are being located and their functions are beginning to be understood at an increasingly extraordinary pace. Researchers are finding genes that cause diseases, identify people at increased risk for having children with a genetic disorder, and help distinguish those individuals who are at increased risk to develop a certain disease from those who are not.

As new genetic technologies are moving rapidly from research into the clinical practice arena, concerns have been raised that, in some cases, not enough is known about the impact of these findings on people's lives and health. Furthermore, questions have arisen as to whether health professionals have been adequately educated about genetics, genetic technologies and the ethical, legal and social implications surrounding their use in order to optimally provide genetic services to their patients.

Research Grants

To respond to these urgent concerns, the ELSI program has focused much of its efforts in this area. To date, 48 basic and applied research projects have been funded to examine the impact of integrating genetic technologies into health care practice, to establish a better understanding of the current state of knowledge by health professionals, and to develop recommendations about how best to improve knowledge and incorporate these technologies into health care practice. The focus of work in this area has been on basic research in clinical ethical issues and professional issues and standards, and on applied research designed to examine the impact of genetic testing and counseling. The ELSI program has sponsored two special initiatives in this area. The first, in 1991, was a Request for Applications (RFA) which solicited applications to study issues surrounding genetic testing and counseling for cystic fibrosis mutations. The second RFA, released in 1994, was designed to stimulate the study of issues surrounding genetic testing and counseling for heritable breast, ovarian and colon cancer risks.

One project funded by the ELSI program was a landmark study by the Institute of Medicine which established a panel of experts to evaluate issues in the development, application, and use of genetic tests. The study, entitled, "Assessing Genetic Risks," focused on genetic testing and counseling. The panel examined the availability of adequately trained personnel to deal with genetic technologies, laboratory testing and quality control issues, availability and access to genetic information, financing of genetic services, and other social, legal, and ethical issues. The report, published in 1994, has been widely distributed and used as a guide by individuals involved in the development and provision of genetic services. 5

In 1989, the cystic fibrosis gene was discovered and mutations which resulted in disease were identified. Shortly after the discovery, concerns were expressed that there would likely be an increasing demand for such testing and that inadequate numbers of health professionals were prepared to provide such testing. Further concerns were expressed that not enough was known about how such testing could best be carried out safely and with appropriate pre-test education and post-test counseling. As a result, in the first year of its existence, the NHGRI, along with the National Institute of Child Health and Human Development, and the National Institute of Nursing Research released an RFA, "Studies of Testing and Counseling for Cystic Fibrosis Mutations," to solicit applications to examine alternative approaches to genetics education, testing and counseling in order to help establish practices that improve professional interpretation and patient understanding of CF testing.

As a result of this initiative, eight research projects were funded to examine these issues and to gain actual experience in providing genetic testing for cystic fibrosis mutations in a research environment. The findings of these studies suggested that interest in testing for cystic fibrosis mutations was much lower than had been expected in the general population. Investigators also discovered that, although there was limited knowledge about genetics and cystic fibrosis in the population, it was possible to develop a variety of satisfactory alternative education strategies (e.g. videos and brochures) about testing. Furthermore, the investigators saw no evidence of undue anxiety in most individuals tested. The results of these projects have been published in the peer reviewed literature and presented at several professional and scientific meetings. An article summarizing the themes which emerged from the studies has been submitted for publication. NHGRI is now exploring whether the empiric information gained from these projects can be used to inform policy development regarding genetic testing and reproductive risk counseling through an NIH consensus development conference.

A second major initiative was undertaken in 1994 by the NHGRI in anticipation of the discovery of a number of cancer predisposing genes. This initiative (also an RFA) was co-sponsored by the National Cancer Institute, the National Institute of Mental Health (NIMH) and the National Institute of Nursing Research (NINR). It solicited applications for studies designed to examine the psychosocial and clinical impact of using gene-based diagnostic tests in families with heritable forms of breast, ovarian, and colon cancer to identify those individuals who have an increased risk of developing cancer and those who do not. Knowledge and attitudes about genetic testing for cancer risks are also being assessed and information is being gathered to establish clinical protocols for the optimum use of these risk assessment technologies in the future. These projects are now beginning their second year and preliminary results are becoming available. Once completed, these projects will provide valuable experience-based guidance for genetic testing for cancer susceptibility genes.

Other Activities

In the above two activities, NHGRI sponsored the formation of research consortia (the Cystic Fibrosis Studies Consortium and the Cancer Genetics Studies Consortium) in order to promote collaboration among individual research projects and to reduce duplication of efforts. Other goals were to increase the likelihood of interstudy comparisons, to jointly develop guidance for informed consent and, in the case of the cancer genetics studies, to develop follow-up recommendations for those found to have breast, ovarian or colon cancer mutations. These follow-up recommendations will be published in the coming year and will provide interim guidance to all researchers who provide genetic testing for cancer risks as a part of their research protocols.

In the cystic fibrosis studies initiative, the projects were not initiated until two years after the discovery of the CF gene, at least in part because the ELSI program had not been established at the time of the gene's discovery. The cancer genetics studies were initiated just after the discovery of several colon cancer genes and before the discovery of any breast cancer genes. Anticipation of such scientific discoveries allows for the timely examination of these issues before problems arise, rather than after they have already occurred. The formation of such research consortia is a practice which has recently been been viewed as a successful means to achieve the above-stated goals.

In follow up to the Institute of Medicine study and in response to an identified need for further guidance in the area of genetic testing, the ELSI Working Group has formed a Task Force on Genetic Testing. The Task Force is charged with examining the current state of genetic testing in the United States and (if needed) making recommendations to ensure the development and delivery of safe and effective genetic tests. This Task Force is specifically examining the scientific validation of new genetic tests; laboratory quality assurance; and education, counseling and delivery of genetic tests. It has participation from several federal agencies including the FDA, HCFA, CDC, and AHCPR, professional societies, the private biotechnology industry, insurers and consumers. A set of draft principles is now (March, 1996) being circulated for public comment and the final results of this group's deliberations are expected in FY 1997. 6

3. ISSUES SURROUNDING GENETICS RESEARCH

Genetics research may result in the discovery of information that is powerful and potentially predictive. In addition, such information may have familial implications. While in some cases such information may be beneficial to research subjects and their families, there is also potential for misinterpretation or misuse. Special concerns have arisen about the process of informed consent, particularly when the risks and benefits of research participation may not be fully known. Concerns have also arisen about how best to prevent the preliminary or premature release of research results and to protect the privacy of individuals who choose to participate in genetics research. As a result, a third priority area identified for the ELSI program pertains to issues surrounding the conduct of genetics research. Examination of existing research guidelines and recommendations over the past five years has revealed that current guidance and protections need to be enhanced in order to deal with the special considerations related to genetics research.

Research Grants

To increase understanding of the issues surrounding genetics research and to improve the research protections in place, the ELSI Branch has supported 14 research projects aimed at examining ethical, legal, philosophical, and ethnocultural issues surrounding genetics research. Research has been or is being conducted to: examine issues surrounding informed consent in genetics research; explore how the research agenda was set for the HGP; study academic-industry relationships in genetics research; develop a legal research agenda; examine the impact of the HGP on women; and identify strategies for documenting the history of the HGP as it occurs.

One research project currently being supported is designed to gather information about the status of informed consent for genetics research (University of Iowa-Murray/Weir). The investigators have determined how the requirements of informed consent are currently being met in genetics research and have analyzed the problems relating to consent. They have also gathered information about how the concept of consent needs to be expanded to fit the unique context of genetics research when using banked tissue samples. Recommendations regarding the components of informed consent for genetics research using stored samples have been developed and are now being disseminated through publication in an institutional review board journal.

The ELSI Branch has also funded a research project to identify the ethical, legal, and social implications of the HGP from the perspectives of two Native American communities (University of Oklahoma-Foster). The investigators plan to examine the decision-making process with special emphasis on collective decision-making and the extent of communal authority over individual members. The results of this project will be used to construct an optimum approach to such minority communities, which will be more generally applicable and culturally sensitive.

Another research project was recently funded (University of North Carolina-Churchill) to examine the process of informed decision-making about gene therapies. This project will involve a re-examination of the legal and ethical basis of informed consent (the Belmont Report), with special attention given to the research/treatment distinction in gene therapies. This project will result in the development of recommendations for informed decision-making for gene therapy protocols.

Other Activities

In order to address concerns about informed consent in genetics research, the Office for Protection from Research Risks (OPRR) and the ELSI program collaborated to convene a workshop to develop guidance for investigators and Institutional Review Boards (IRBs) who were increasingly being asked to approve genetics research protocols. The deliberations of this group resulted in the publication of a chapter on Human Genetics Research in the most recent (1993) version of OPRR's IRB Guidebook which is distributed to IRBs all around the U.S. 7 This is the first time that guidance on human subjects protections for genetics research has been provided in the guidebook.

Stored tissue samples are valuable resources for genetics research. Due to increasing concerns about the adequacy of informed consent and privacy protections when stored tissue samples are used in genetics research, the CDC and the ELSI program supported a meeting to explore these issues. After intensive deliberations, recommendations were developed and published in December, 1995 in the Journal of the American Medical Association. 8As a direct result of these deliberations, a number of other groups have now taken up this issue, including the American College of Medical Genetics, the American Society of Human Genetics, the College of American Pathologists and numerous other organizations which represent the pathology community. These professional societies are in the process of developing and publishing policy recommendations regarding this issue as well. 9, 10

To assure widespread dissemination and to increase the likelihood of implementation of the above recommendations, the NHGRI is co-sponsoring a workshop to inform individuals who are members of IRBs about human subject protections related to genetics research. ELSI program staff members are centrally involved in the planning and the organization of this conference.

4. PUBLIC AND PROFESSIONAL EDUCATION

It has become increasingly clear that most members of the general population and most health professionals are not knowledgeable about genetics, genetic technologies and the possible ethical, legal, and social implications of having genetic information. This has become more apparent as the results of a number of ELSI-funded surveys have become available. The new information generated by the HGP and human genetics research are changing biomedical research, the practice of medicine, and public perceptions about genetic information and technologies. It is imperative that members of the public have an adequate understanding of the meaning of newly discovered genetic information. It is also essential that our nation's health professionals have the knowledge, skills, and resources to effectively integrate this new knowledge and these technologies into the diagnosis, prevention, and treatment of disease. Without knowledgeable health professionals and members of the public, the advances in genetics research will not be fully realized. Thus, a fourth high priority area that has been identified for the ELSI program is public and professional education in genetics.

Research and Education Projects

To date, the ELSI program has funded twenty-one education projects. These include projects designed to educate health and other professionals about genetics and genetic technologies, to develop formal curriculum materials for kindergarten through college-age students, and to educate consumers and the public about these issues.

One project (Hopkins-Holtzman) found that knowledge of genetics and genetic tests among physicians is increasing, but deficiencies in knowledge still exist. The study also revealed that primary care physicians are more likely to be directive when providing genetic tests rather than providing options from which patients may choose. Second, a survey of practicing nurses (ANA-Scanlon) revealed that nurses have limited education in genetics, but also express a great deal of interest in being educated in genetics. The study further revealed that nurses are already providing care to individuals who have genetic disorders on a regular basis, in spite of the nurses' lack of confidence in their own level of genetic knowledge. A third survey (Georgetown-Lapham) revealed the limited amount of education in genetics of a wide variety of health professionals in University Affiliated Programs (UAPs). The UAP health professionals reported that they deal on a daily basis with individuals with genetic disorders and their families and that they participate in providing genetic information and counseling to those families. They further recognize the need for more education in this area. This survey also revealed that consumers were more likely to have heard about the HGP than were health professionals. Information obtained through such surveys has been valuable in the ELSI program's efforts to examine its educational priorities and has led to the designation of health professional education as a high priority area.

One example of an education project (Georgetown University-Lapham) is designed to attempt to fill the gap in knowledge for a combination of health professionals and consumers. After assessing and analyzing knowledge, attitudes, experience and practice of consumers and multi-disciplinary health professionals on issues related to the HGP, these investigators are using the information gained from their survey to develop education programs for consumers and health professionals.

A second project (Council of State Governments-Brown) was designed to educate state policy makers about the HGP and increase their knowledge about the ethical, legal and social issues surrounding the research. Regional meetings were held around the country and a publication was developed and widely distributed to state lawmakers and other interested policy makers.

A third project funded by the ELSI program (University of Virginia-Fletcher) is designed to educate appellate judges and journalists about the HGP and its implications for the future. During the course of this project, an integrated textbook, a casebook, and a teaching manual appropriate for each group is being developed and educational workshops are being provided.

A fourth project funded (MCET-Texter) is designed to develop and field-test a semester-long high school course to be disseminated through a public broadcasting network using multiple telecommunications networks, including satellite, computer, audio, and print materials.

A final example of an educational resource the ELSI program has funded is a grant (Georgetown University-Walters) which supports the further development of two databases of the ELSI literature. The first, Bioethicsline (which is a part of Medline) is an annotated bibliographic listing of the ethics literature. The second, ETHX, is a broader bibliography containing all of the Bioethicsline citations, in addition to citations from the popular literature. The number of Medline articles published annually on ethics and genetics topics has nearly tripled over the past ten years. The number of genetics citations in the ETHX database has nearly doubled since its inception in 1988. These databases are now easily accessible by calling (800)633-ETHX or by visiting the Web site of the National Center for Genome Resources at gpi/ [ncgr.org].

Other Activities

In 1995, NHGRI held a meeting of health professional and education experts to define education priorities for the ELSI extramural grant program. These experts concluded that while both public and professional education are important, at this time professional education is the most urgent and highest priority, especially the education of primary care providers. Health professionals will provide information about the appropriateness of genetic testing to the public. They will also be responsible for the interpretation of genetic tests and be called upon to incorporate genetic test results into individuals' health care. As a result, the new ELSI Program Announcement explicitly states that health professional education is a high priority and encourages investigators to submit grant applications for projects that will improve professional understanding of genetics and genome technology.

A number of efforts have been made to educate health professionals in genetics and many of these efforts have been effective. Still, most genetics education activities for health professionals to date have been small in scale. These small-scale efforts now need to be supplemented by a coordinated, national effort to systematically educate (through undergraduate, graduate, and continuing education) all health professionals in genetics and the related ethical, legal, and social issues. Consumer and voluntary organizations (e.g. the Alliance of Genetic Support Groups and the National Breast Cancer Coalition), health professional organizations (e.g. the American Medical Association and the American Nurses Association), and genetics organizations (e.g. the American College of Medical Genetics, the American Society of Human Genetics, the National Society of Genetic Counselors, and the International Society of Nurses in Genetics) as well as government agencies (including NHGRI), will all be involved in the formation of such a Coalition and will contribute their expertise and perspectives to this important effort.

CONCLUSIONS

The establishment of an ELSI program at the NHGRI as an integral part of a scientific research program was a novel departure and an experiment. The accomplishments of the program during its first five years have clearly demonstrated that the experiment is successful. The ELSI extramural research and education program is strong and has complemented the successes of the basic science research funded through other NHGRI Programs. Not only have concrete research results been achieved, but the innovation is now regarded as a natural and essential component of the HGP and has been emulated around the world.

Through its activities, the ELSI program has raised the level of awareness of the ethical, legal, and social issues surrounding genetics research among researchers, health professionals, policy makers and the population at large. This has greatly elevated the level of discourse about these issues. Sound policy development requires an informed public and the ELSI program has contributed enormously in this regard. As a result, the country is in a much better position to address issues as they arise.

However, many challenges still lie ahead. The most immediate challenge is to prepare for the arrival of many predictive genetic tests that can identify an individual's risk for certain diseases. Health professionals, the insurance industry, employers, schools and the public will be directly affected by the development and implementation of these technologies. What can be done to assure that the genetic tests offered to people are safe and of high quality? What can be done to increase the level of knowledge of health professionals about genetic tests, including their full range of benefits and risks? What can be done to assure that people choosing to have (or not have) genetic tests do so with a full understanding of the benefits and risks of testing? Finally, how can individuals who have predictive genetic tests be guaranteed that the information produced will not be used to harm them or their families?

The ELSI program will continue to play a central role in addressing these issues. However, it cannot solve all problems on its own. Some solutions will have to come at other levels, such as the U.S. Congress, the professional organizations, regulatory agencies or even through initiatives of the affected industries. The ELSI program expects to work with all these parties, building on the experience it has gained and the relationships it has established in the first five years of the program.

Table 1

ETHICAL, LEGAL, AND SOCIAL IMPLICATIONS PROGRAM
HIGH PRIORITY AREAS
  • Privacy and Fairness in the Use and Interpretation of Genetic Information
    • Privacy
    • Discrimination/Stigmatization
    • Philosophical/Conceptual Assumptions
    • Public Policy Issues
  • Clinical Integration of Genetic Technologies
    • Clinical Ethical Issues
    • Genetic Testing/Counseling
    • Professional Issues and Standards
  • Issues Surrounding Genetics Research
    • Informed Consent
    • Other Philosophical and Ethical Issues
    • Legal Issues
    • Ethnocultural Issues
    • Other
  • Education
    • Professional-Health
    • Professional-Other
    • Public-K through 12
    • Public-College
    • Public-Consumer
    • Combination Professional/Public

References

1. National Human Genome Research Institute, National Institute of Mental Health and National Institute of Nursing Research. "Program Announcement: Ethical, Legal, and Social Implications of Human Genetics Research." NIH Guide to Grants and Contracts. April 26, 1996: 25(13). back to text

2. National Research Council. DNA Technology in Forensic Science. Washington, DC: National Academy Press, 1992. back to text

3. NIH-DOE Working Group on Ethical, Legal, and Social Implications of Human Genome Research, Genetic Information and Health Insurance: Report of the Task Force on Genetic Information and Insurance. May 1993: NIH Publication No. 93-3686. back to text

4. Hudson, K.L. et al. "Genetic Discrimination and Health Insurance: An Urgent Need for Reform." Science. October 1995: 270; 391-393. back to text

5. Institute of Medicine Committee on Assessing Genetic Risks. Assessing Genetic Risks: Implications for Health and Social Policy. eds. L.B. Andrews et al. Washington, DC: National Academy Press, 1994. back to text

6. NIH-DOE Working Group on Ethical, Legal, and Social Implications of Human Genome Research, Interim Principles--Task Force on Genetic Testing. (Interim Document for Public Comment: Not to Be Construed as Final) March 1996. back to text

7. NIH-DOE Working Group on Ethical, Legal, and Social Implications of Human Genome Research, Interim Principles--Task Force on Genetic Testing. (Interim Document for Public Comment: Not to Be Construed as Final) March 1996. back to text

8. Clayton, E.W. et al. "Informed Consent for Genetic Research on Stored Tissue Samples." JAMA. December 13, 1995: 274(22); 1786-1792. back to text

9. American College of Medical Genetics Storage of Genetic Materials Committee. "Statement on Storage and Use of Genetic Materials." The American Journal of Human Genetics. 1995: 57; 1499-1500. back to text

10. American Society for Investigative Pathology Position Statement. "Balancing Research Progress and Informed Consent." October 1995. back to text

Top of page

Last Reviewed: October 1, 2012