Special Oversight Groups to Add Protections for Population-Based Repository Samples

Abstract

To the Editor:The National Institute of General Medical Sciences (NIGMS) supports the Human Genetic Cell Repository through a contract to the Coriell Institute for Medical Research in Camden, NJ. The repository supplies cell lines and DNA samples to investigators worldwide. Although most of the 6,300 cell lines in the repository are derived from individuals with genetic disorders or from their family members, others in the repository were acquired because they represent distinct, identified populations. Designated as the Human Variation Collection, these samples come from anonymous, unrelated individuals and have no phenotypic information associated with them. In recent years, researchers have shown a growing interest in studying these samples (1) to answer fundamental questions related to genetic architecture of complex traits, (2) to distinguish between a disease-causing mutation and a normal polymorphism, and (3) to identify genes in rare and common disorders. This interest has prompted the genetics research community to ask the repository to acquire samples from additional identified populations. At the same time, members of some populations and some bioethicists have raised concerns about possible negative consequences (such as stereotyping, stigmatization, discrimination, and community disruption) to a population resulting from genetic studies on identified populations.NIGMS recently held a workshop (Workshop on Population-Based Samples for the NIGMS Human Genetic Cell Repository) to consider the scientific benefits and the risks to populations of expanding the collection of such samples and to develop recommendations about whether, and under what conditions, the repository should acquire these samples. A key set of recommendations describes a novel approach to increase the protection of populations, and it is the purpose of this letter both to inform the human genetics research community about these recommendations and to encourage further discussion about the means to protect populations in genetics research. In parallel, additional input from members of diverse populations is being sought.Federal regulations (Title 45, Code of Federal Regulations, Part 46) focus on the protection of individuals and do not extend protections to populations or other groups. The recommendations of the Workshop on Population-Based Samples for the NIGMS Human Genetic Cell Repository were designed to complement the federal regulations by establishing an Oversight Group for Population-Based Samples (OGPBS) that would assure that samples were (or will be) acquired with due protection of the population from which samples are collected. As detailed in the report of the Workshop on Population-Based Samples for the NIGMS Human Genetic Cell Repository, each population-specific OGPBS would specify criteria for consultation with and participation by members of the population; for informing the population and individual sample donors about the use of the samples, the benefits, if any, that are promised, the potential harm to the population, and what will be done to minimize harm; and for the documentation about these activities required from investigators who collect samples for submission to the repository.An alternative to the OGPBS model would be for institutional review boards (IRBs) to be more vigilant in their protection of populations. There are several advantages, however, to using an OGPBS for this purpose. First, it is unlikely that an IRB would have the expertise that could be assembled in an OGPBS, particularly that provided by members of the population under consideration. Second, investigators who will collect samples for submission to the repository will come from different institutions, with different IRBs. Greater continuity can be achieved by the ability to coordinate the OGPBS, for example, by having some members participate in several groups. And third, it is expected that oversight will be ongoing during the entire process of sample collection, acquisition by the repository, distribution, and generation of research results. Only a group constituted specifically for this purpose is likely to provide the appropriate level of protection over an extended period of time, and, specifically, beyond the period of review by an IRB, which would end with the collection of the samples.Some populations might consider these protections inadequate, and some investigators might consider them too onerous. However, the concept behind the OGPBS model is that it provides a flexible approach to maintaining high standards for the protection of diverse populations with different concerns while attempting to provide a valuable genetic resource to the research community. It is hoped that the proposed establishment of OGPBS and the outline of proposed protections will promote discussion of these recommendations or alternatives by the genetics and bioethics communities and by the populations that will be the potential sources of samples and the partners in this valuable research resource.