National Institutes of Health U.S. Department of Health and Human Services
The Ethical, Legal and Social Implications Research Program
From the beginning of the Human Genome Project (HGP), project organizers foresaw that human genomic research would raiseethical, legal and social issues. Recognizing of the importance of these issues led to a decision by HGP leaders to set aside a portion of the HGP budget to support research related to these issues, and to the establishment of the Ethical, Legal, and Social Implications (ELSI) Research Program.
Today, nearly 25 years later, with a legislative mandate that no less than 5 percent of the NHGRI budget be set aside for research on these issues, the ELSI Research Program continues to thrive. In fact, the term "ELSI" not only has become a staple in the lexicon of the field of genomics, but it has become shorthand for the bioethical issues that affect many other areas of science.
The ELSI Research Program is by far the largest dedicated extramural bioethics research program at the NIH. Its budget has grown from $1.57 million in fiscal year 1990 to over $18 million in fiscal year 2014. The program has awarded over $335 million in research support, and has funded more than 500 projects, which collectively, have resulted in thousands of publications. Administratively housed within NHGRI's Division of Genomics and Society, a division designed to collaborate closely with other components of the institute involved in related activities, such as the Division of Policy, Communication, and Education and two programs within the institute's Division of Intramural Research: the Social and Behavioral Research Branch and the Bioethics Core.
Over the years, the direction of the ELSI Research Program has been shaped by a series of external evaluations, reviews, and NHGRI-wide strategic planning processes. In 2012, the Genomics and Society Working Group (a working group of the NHGRI National Advisory Council for Human Genome Research) was established to make recommendations on short- and long-range planning and priority setting for NHGRI activities related to genomics and society, with primary emphasis on the ELSI Research Program.
The ELSI Research Program's current research priorities fall into four broad categories:
Psychosocial and ethical issues in genomics research.
Psychosocial and ethical issues in genomic medicine.
Legal and public policy issues.
Broader societal issues.
The investigators funded by the ELSI Research Program come from a broad range of disciplines, including genetics and genomics, clinical medicine, bioethics, the social sciences (e.g., psychology, sociology, anthropology, political science and communication sciences), history, philosophy, literature, law, economics, health services, and public policy.Many of the funded grants are highly multidisciplinary and employ a wide range of both empirical and non-empirical methodologies.
Most of the research ELSI funds is investigator-initiated, reflecting in large part the desire to maintain the intellectual independence of its supported investigators. However, the research program occasionally issues Requests for Applications (RFAs) to solicit research on particular high-priority topics that require immediate or more focused attention. The program also supports a number of ELSI projects that are embedded in larger clinical sequencing grant programs.
In addition, ELSI supports several Centers of Excellence in ELSI Research (CEERs). The CEERs are designed to support the creation and maintenance of the infrastructure necessary to foster highly transdisciplinary research; facilitate the translation of research into health, research, and public policies and practices; and train the next generation of investigators in the field. To build on the training activities supported through the CEERs, the ELSI has recently initiated an institutional training grant program for predoctoral and postdoctoral trainees.
Examples of the impact of the ELSI Research Program can be seen in a number of areas:
Research on the risks and benefits associated with genetic research has led to major changes in the way investigators draft, and institutional review boards review, consent forms for genomic studies.
Research on the need for a balance between the promotion of broad data sharing and the need to safeguard the privacy, autonomy, and the related interests of genomics research participants, has directly influenced the development of NIH genomic data sharing policies.
Research on the implications of limitations in the ability to reliably de-identify genomic samples has influenced the development of proposed revisions to the Common Rule by the Office of Human Research Protections.
Work on the ethical issues related to the use of stored genetic samples has influenced the development of policies and practices for biobanks and biorepositories at both the National Institutes of Health (NIH) and other research institutions, and is leading to the development of innovative governance mechanisms.
Research on the legal issues associated with the application of the Clinical Laboratory Improvements Amendments (CLIA) in the context of genomic sequencing research has prompted preliminary discussions with the Center for Medicaid Services about possible reinterpretations of the law.
Research on community engagement, community consultation and group interests in genetic variation research has led to the development of novel protocols to engage and consult with the socially defined communities who are approached to provide samples for several major international genetic variation projects.
Research on the ethical and social issues raised by the labeling of populations defined by ancestral geography has led to the adoption of a more precise and ethically sensitive nomenclature for the populations studied in genetic variation studies.
Research on novel approaches to community-based participatory research has served as a model for genomics research conducted with Native American tribes and with other groups whose relationship to genetics and genomics research historically has often been contentious.
Research on the ethical and social issues related to population-based screening, carrier testing, prenatal testing, newborn screening, and predictive testing of both children and adults for early and late onset conditions has contributed directly to the development of a number of "Points to Consider" documents, recommendations, and guideline statements issued by professional organizations, and to enactments by other policy-making bodies.
Research on the attitudes of research participants and patients about the return of results and incidental findings, and studies of the experiences of customers of direct-to-consumer genetic test marketing companies who have received genetic results, have contributed to researchers' and clinicians' awareness of what people want and expect, how they perceive risk, and how complex genomic information can be communicated in ways that are easier for people to comprehend.
Research on the legal and normative aspects of genetic privacy and the risk of genetic discrimination helped create significant momentum that led to important changes to the Health Insurance Portability and Accountability Act (HIPAA), to the guidance issued by the Equal Employment Opportunity Commission (EEOC), and ultimately to the passage of the Genetic Information Nondiscrimination Act (GINA), which prohibits genetic discrimination by most health insurers and employers.
Research on the ethical, legal and social issues related to the use of DNA in the courtroom has helped sensitize judges, lawyers, civil liberties advocates, and members of the law enforcement community to the issues involved in the collection and potential use of DNA samples from people in the criminal justice system.
Research on the ethical, legal, and social implications of emerging behavioral genetics findings has led to greater media awareness of the need for nuanced discussion of this issue, and has heightened awareness among judges and others involved in the legal system of the complexities associated with the use of behavioral genetics evidence in courtroom and other societal settings.
Often, the impact of ELSI research has come less from the direct translation of published study findings into a formal policy, than more from ELSI investigators, operating independently as scholars, serving directly on commissions or other policy-making bodies (at the international, state or local institutional levels), or providing expert testimony or other forms of expert analysis to those groups, and consultations to both the research and clinical communities.
The most consequential impact of the ELSI Research Program has arguably come about in even more subtle ways, such as the contributions these studies have made to incremental changes in the cultural milieu in which genomics research is conducted, genomic medicine is implemented and genomic information is incorporated into decision-making in various areas of society.