7/20/1999 8:00 AM
7/20/1999 8:00 AM
The scientific community considers the samples from the identified human populations currently in the NIGMS Human Genetic Cell Repository to be of substantial value and has asked that this collection be expanded to include samples from additional populations as well as a greater number of samples per population. Like the samples from identified populations that currently exist in the collection, the proposed additional samples would be from unrelated individuals about whom no phenotypic information would be provided. The individual samples would be anonymous or anonymized, although the population that the sample came from would be known, as discussed below.
Enlarging this collection raises scientific as well as ethical, legal, and social (ELSI) questions. On the scientific side, the questions include a determination of the characteristics of populations that would be of most value for researchers and of the appropriate number of samples from each population. On the ELSI side, the current human subjects regulations (45 CFR Part 46) are focused on the protection of individuals and do not extend to groups to which the individuals may belong. In recent years there has been discussion about the potential consequences for specific populations of genetic studies that are conducted on individuals who are members of these populations. Thus, expanding the collection of samples from identified human populations raises important questions, including whether appropriate protections can be put in place to reduce the possibility of negative impacts on populations if the Repository acquires population-based samples.
A workshop was held on July 20, 1999 to consider the scientific benefits and the risks to populations of expanding the collection of human population-based samples and to develop recommendations about whether, and under what conditions, the Repository should acquire these samples. To assure a diversity of views, participants in the workshop included individuals with expertise in population genetics, physical and cultural anthropology, bioethics, medicine, psychology, and patient advocacy.
The meeting agenda began with several brief presentations that set the stage for the extensive discussion that followed. Dr. Anne Spence summarized the research purposes for which the type of population-based samples described above are of value. Samples from distinct populations are useful: (1) for identifying genes in both rare and common disorders; (2) for demonstrating gene function by distinguishing between a disease-causing mutation and a normal polymorphism; and (3) for answering fundamental questions related to an understanding of population structure, which is essential for interpreting data from the first application.
Dr. Andrew Clark provided evidence for the power of grouping individuals by population, as opposed to pooling them, in the discovery of an association between DNA variation and disease-causing genes, particularly for complex disorders.
While the scientific value of samples from identified populations was acknowledged, so too were the potential risks and harms to populations. Dr. Marvin Natowicz described some of the risks. These include stereotyping and stigmatizing, by the use or misuse of information derived from a study as well as by the very act of identifying a group; discrimination in access to various social benefits; conflict with the group's cultural beliefs; and, under certain circumstances, loss of potential property rights. Further discussion led to the identification of additional risks to populations, which include internal self-stigmatization by members of the population itself and community disruption.
Dr. Jeanne Beck presented data on the Human Variation Collections currently in the Repository. These include 142 samples from 18 populations in the Yale-Stanford Collection and 11 Human Variation panels (of 10-100 samples), which were assembled from materials already in the Repository. (The samples in the DNA Polymorphism Discovery Resource have no ethnic identifiers. As a result, these samples cannot be associated with any population, and therefore are not at issue here.) Since 1991, shipments of samples from the Yale-Stanford Collection have represented 2.4 percent of all shipments from the Repository. From December 1, 1997 to July 1, 1999, 263 Human Variation panels have been shipped. Thus, the demand for this material is high. Based on information derived from the statement of research intent required to place an order, investigators use these samples to identify single nucleotide polymorphisms (SNPs), to determine allele frequencies, to characterize polymorphisms, to compare interspecies variations, and to study evolutionary history.
Extensive discussion at the workshop yielded a set of recommendations that were then refined and elaborated upon by the workshop participants via an e-mail distribution list discussion over the course of several weeks. That process culminated with the development of consensus recommendations. The first group of recommendations relates to scientific issues.
The following recommendations are related to human subjects issues that are raised by the collection of samples from identified populations and the storage and distribution of these samples by the Repository. These recommendations represent a new approach to the protection of populations that complements the protections that are afforded individuals by the current system of Institutional Review Board (IRB) approval and informed consent.
The National Bioethics Advisory Commission (NBAC) recently released its final report, Research Involving Human Biological Materials: Ethical Issues and Policy Guidance (August 1999). The report provides a thorough analysis of the ethical issues involving groups and contains two recommendations, quoted below, that address potential harms to individuals other than the research subject.
Research using stored human biological materials, even when not potentially harmful to individuals from whom the samples are taken, may be potentially harmful to groups associated with the individual. To the extent such potential harms can be anticipated, investigators should to the extent possible plan their research so as to minimize such harm and should consult, when appropriate, representatives of the relevant groups regarding study design. In addition, when research on unlinked samples that poses a significant risk of group harms is otherwise eligible for exemption from IRB review, the exemption should not be granted if IRB review might help the investigator to design the study in such a way as to avoid those harms.
If it is anticipated that a specific research protocol poses a risk to a specific group, this risk should be disclosed during any required informed consent process.
Some of the recommendations, below, stemming from the workshop might be considered to afford protections beyond what were recommended in the NBAC report.
Before they are implemented, the recommendations will be presented for discussion first within the National Institutes of Health and then with the broader scientific community, the bioethics community, and representatives of various populations. The final recommendations may be modified in the future, as experience with the scientific and ethical issues develops. Any proposed modifications to these recommendations should include a similar process involving these three constituencies.
Marvin Natowicz, M.D., Ph.D., Co-chair Division of Medical Genetics Shriver Center 200 Trapelo Road Waltham, MA 02254 (781) 642-0176
M. Anne Spence, Ph.D., Co-chair Department of Pediatrics/ Division of Medical Genetics University of California Irvine Medical Center, Building 2 101 The City Drive South Orange, CA 92868 (714) 456-8385
John Blangero, Ph.D. Department of Genetics Southwest Foundation for Medical Research P.O. Box 28147 San Antonio, TX 78228-0147 (210) 258-9400, ext. 634
Andrew Clark, Ph.D. Department of Biology Pennsylvania State University 208 Mueller Lab University Park, PA 16802-5301 (814) 863-3891
William Freeman, M.D., M.P.H. Indian Health Service 5300 Homestead Road NE Albuquerque, NM 87110-1293 (505) 248-4384
Atwood Gaines, M.P.H., Ph.D. Department of Anthropology 238 Mather Memorial Building Case Western Reserve University Cleveland, OH 44106 (216) 368-2257
Lynn B. Jorde, Ph.D. Human Genetics Eccles Institute of Genetics University of Utah School of Medicine Room 2100, Building 533 Salt Lake City, UT 84112 (801) 581-4566
Eric T. Juengst, Ph.D. Center for Biomedical Ethics School of Medicine Case Western Reserve University 10900 Euclid Avenue Cleveland, OH 44106-4976 (216) 778-8493
Diana M. Lee Sickle Cell Community Health Network of Northern California 509 28th Street Richmond, CA 94804 (877) 726-2372
Nancy Press, Ph.D. Department of Public Health and Preventive Medicine Oregon Health Sciences University 3181 Southwest Sam Jackson Park Road CB-669 Portland, OR 97201 (503) 494-2535
Catalina Ramos Y-ME National Breast Cancer Organization 212 W. Van Buren Street Chicago, IL 60607-3908 (312) 986-8338
Leonard J. Tamura, Ph.D. Clinical Psychologist 7220 W. Jefferson Avenue, Suite 401 Lakewood, CO 80235 (303) 980-9712
Deputy Director, Human Genetic Cell Repository Jeanne C. Beck, Ph.D. Coriell Institute for Medical Research 401 Haddon Avenue Camden, NJ 08103 (800) 752-3805
Project Officer Judith H. Greenberg, Ph.D. Director Division of Genetics and Developmental Biology NIGMS, NIH Building 45, Room 2AS-19H 45 Center Drive MSC 6200 Bethesda, MD 20892-6200 (301) 594-0943
Alternate Project Officer Catherine Lewis, Ph.D. Branch Chief Division of Cell Biology and Biophysics NIGMS, NIH Building 45, Room 2AS.13K 45 Center Drive MSC 6200 Bethesda, MD 20892-6200 (301) 594-0828
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