Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
Human Genome News, January 1993; 4(5)
On October 5-6, 1992, the NIH National Center for Human Genome Research (NCHGR) and Office of Protection from Research Risks (OPRR) convened a workshop to discuss issues faced by institutional review boards (IRBs) when reviewing applications for public funds to conduct human genetic studies involving families. The surge in efforts to identify disease-related genes has increased dramatically the number of genetic studies that IRBs are asked to review. The purpose of the conference was to determine the appropriateness of developing NIH guidance for IRBs and to identify areas needing clarification. Participants included representatives from voluntary health associations, genetic researchers and counselors, subject recruiters, IRB chairs, legal experts, and research policymakers.
Crucial differences exist between genetic family studies and other types of research involving human subjects. First, in pedigree studies, psychosocial rather than physical risks often require careful scrutiny by IRBs, who currently do not have guidelines for evaluating psychosocial risk. Second, because the "research subjects" are related, their individual decisions and rights may be in direct conflict with those of other relatives. Finally, the diagnostic potential of many family studies removes the boundary between research and therapy.
Discussions were organized around commissioned briefing papers and preliminary work by groups such as the American Association for the Advancement of Science, the Alliance of Genetic Support Groups, and the American Society of Human Genetics. Sessions emphasized five core areas of research policy: (1) recruitment strategies, (2) identification and communication of risks and benefits within the informed consent process, (3) disclosure of interim results, (4) policies on withdrawal and limited participation, and (5) publication practices.
Nonphysical risk: Risk to participants in genetic research may go beyond "just a blood draw." Workshop participants agreed that collecting empirical data about the nonphysical risks of genetic research should be a significant component of future studies. Investigators and IRBs should consider that diagnosis of a genetic disease may affect such aspects as the individual's ability to change jobs or obtain health insurance. Investigators must develop sensitivity to these issues, and IRBs should expect researchers to defend their approach in the research proposal.
Education: To provide an adequate review of pedigree study protocols, IRB members need to become familiar with the specifics of pedigree research, especially psychological and social risks and the uncertainty of a study's outcome. Education should be a continuous process because new advances in genetics are made almost daily and IRB membership rotates regularly. In addition, researchers need to be educated about IRB expectations. Consumer groups and voluntary health associations can play a significant role in recruitment, education, and support of research participants.
Languages: The language level used in the informed consent process should be understandable and appropriate. Interpreters must be provided for those who are hearing impaired or speak no English.
Counseling: Counseling for research participants should be stressed by IRBs, and differences between psychological and genetic counseling should be recognized by investigators. Researchers should not overlook voluntary health organizations as a source of emotional support for participants and as a bridge of trust between subjects and investigators.
Early Withdrawal: IRBs should recognize that people withdraw from projects for various reasons. They should ensure that researchers explain to participants what will happen and the potential uses or consequences of information or samples.
Publication: Some discussants were concerned about the lack of a formalized system to preserve confidentiality when disguised pedigrees are published. They felt that policies should be developed to balance various interests and minimize participants' risk and that the conventional practice of publishing pedigrees should be evaluated further by scientific journal editors, NIH, and others. Informed consent should include notification about publication plans, and permissions should be obtained again before unexpected findings are published. IRBs should have the opportunity to evaluate the dissemination plan in each protocol.
Coercion: Appropriate and inappropriate recruitment practices should be identified and conveyed to IRBs, although they should recognize that each situation is unique. IRBs should ensure that the investigator has developed an adequate recruitment strategy with resources to execute it. IRB policy guidelines also need to be developed regarding the involvement of children in pedigree studies.
Workshop participants evaluated a draft chapter on genetic family studies for an OPRR guidebook for IRBs. They also recommended adding a session on genetics to the OPRR-Food and Drug Administration regional workshops for IRB members. Finally, members recommended that the NCHGR program on ethical, legal, and social issues publicize its interest in cofunding research on the psychosocial impact of participation in a genetic family study.
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Human Genome Program, U.S. Department of Energy, Human Genome News (v4n5).
The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.
Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.