Naming names in human genetic variation research.

Abstract

Genetic differences within and between populations may provide especially productive opportunities for using the sequence generated by the Human Genome Project (Committee on Human Genome Diversity 1997; Harding and Sajantila 1998). In particular, research into human genetic variation may hold long-sought answers to questions about common, complex diseases such as cancer, diabetes, and heart disease (McKeigue 1997; Shriver 1997). Whereas research into genetic variation is growing rapidly, existing human subjects’ protections may not fully take into account population-specific risks. Most threats come from lay persons rather than scientists. Naming a population in a scientific publication, though, can subject all members who share that social identity to risks (King 1992; Caplan 1994; Wolf 1995). Adverse association with disease predisposition can lead to discrimination and stigmatization (Andrews et al. 1994). The legal status of some populations may be jeopardized by genetic findings about their histories, for instance, affecting claims on land and prehistoric remains asserted by Native Americans (Grounds 1996). Findings that contradict how a community has used its traditional version of history to construct a unique identity may cause internal sociocultural harms, including psychosocial stress (Deloria 1995). Population anonymity may eliminate many of these collective risks. If published scientific findings are not linked to a socially identifiable population, those results cannot endanger persons who share such identities. The scientific validity of studies of disease susceptibility and resistance would not be significantly diminished by anonymity—just as pedigree studies have been unaffected by the use of anonymity. As in the case of anonymous pedigree studies, researchers can contact authors of population-anonymous studies for further information should there be reason to replicate findings, make additional comparisons, or investigate new questions. That exchange of information can be handled in a confidential manner that maintains respect for the population’s authority to consent to new research proposals. Although social identities have been used commonly in biomedical studies as surrogates for behavioral and environmental factors, they do not constitute the sole or even the most accurate sources of such information. Indeed, naming social identities (such as race) in biomedical publications may not be a scientifically valid means for linking biological, behavioral, and environmental contributors to health (LaVeist 1994; Williams 1997; Freeman 1998). The identities that have greater scientific validity for genetic studies may, in effect, be surrogates for large pedigrees—raising questions about naming populations, even under current ethical standards (Powers 1993; Botkin et al. 1998). Anonymity is more problematic with respect to research into population history and the use of tissue collections. Unlike disease-specific research, naming social identities is intrinsic to population-history research, even when findings show that genetic populations, or demes, do not reflect recognized social boundaries. Although their findings are about the genetic structure of demes, studies of population history rely on social identities to orient and report their results (Cavalli-Sforza et al. 1994). At the same time, population histories answer primarily academic questions—about genetic studies of human evolution, language family relationships, prehistoric migration patterns, and isolation or admixture among others (von Haeseler et al. 1995; Stoneking 1997)—that offer few tangible benefits to members of populations investigated. Tissue collections that are open to researchers do not customarily distinguish among different kinds of genetic research nor have they typically offered population anonymity to donors nor required it of users (Clayton et al. 1995; Weir and Horton 1995). An effort to create a worldwide tissue collection documenting genetic diversity, the Human Genome Diversity Project (HGDP), has foundered in part because of its proponents’ insistence on naming donors’ social identities and making their tissue samples available for a wide variety of research purposes— including population-history studies (Cavalli-Sforza et al. 1991; Kidd et al. 1993). Indigenous peoples throughout the world objected to what they perceived as the colonialism of the HGDP, in which control over the scope of research, patents, commercial royalties, and use of population names in publications all resided with researchers (Macilwain 1996). These concerns created a climate of suspicion about genetic research, particularly among Native Americans, that is an obstacle to studies using human variation to investigate disease susceptibility. The cooperation of diverse populations is crucial for redeeming the considerable promises of the study of human genetic variation (Knoppers et al. 1996). However, many population-specific projects still do not consult with communities before recruiting members for genetic research. Standard informed consent agreements do not typically note the collective risks that published genetic findings may have for all persons who share a social identity. Research projects that necessarily publish Corresponding author. E-MAIL Morris.W.Foster-1@ou.edu; FAX (405) 325-7386. Insight/Outlook