The ambiguous meanings of the racial/ethnic categories routinely used in human genetics research
Introduction
Fueled in part by intense interest in understanding and controlling health disparities among racial/ethnic1 minority groups, one of the key goals of current human genetics research is to identify genetic variations that affect common diseases, and to develop therapeutic interventions that target those variations. A great many researchers are studying the distribution of genetic variations among diverse groups in order to understand underlying disease susceptibility and treatment response. Commonly, these efforts focus on racial and ethnic groupings, resurrecting a long-standing controversy over the use of such groupings in scientific research.
Some researchers argue that race/ethnicity provides rough, but valuable, information about genetic ancestry and thereby information about disease prevalence and risk. They argue that, until our understanding of the distribution of genetic variants is more refined, race/ethnicity provides a useful proxy for important variations (Burchard et al., 2003; Collins, 2004; Jorde & Wooding, 2004; Mountain & Risch, 2004).
Other researchers maintain that “race” is a social construct without biological basis, pointing out that there is more genetic difference within groups than between them. They argue that the use of race/ethnicity in medical research has limited utility, and produces arbitrary results, which reify a typological version of human variation that obscures social explanations and responsibility for health disparities (Braun, 2004; Goodman, 2000; Keita et al., 2004). In this view, using racial/ethnic groupings in genetic research is a questionable undertaking, without clear scientific legitimacy, which should be abandoned or approached with great caution.
How is it that such disparate views might exist amongst some of the most renowned researchers of an otherwise highly systematic and rigorous field of study? In part this may be because these arguments rely almost exclusively on abstract considerations and declarations, with each side revisiting the polemics already extant in the debate. In this paper, we attempt to move beyond these previous discussions, by considering the on-the-ground concepts and practices being employed by a group of researchers who are using these variables. We will consider the depth of the problem of using racial/ethnic categories as variables in genetics research, which we argue is rooted in the highly problematic nature of the categories themselves. Based on interviews we conducted with a group of human genetics researchers, we will examine how these researchers conceptualize, operationalize, and interpret racial/ethnic differences, and the principles of classification they apply. We will argue that while the researchers’ use of commonplace racial/ethnic terminology may appear to be a matter-of-fact way of classifying objective identities, these categories are actually highly amorphous, promoting an illusion of coherence, where coherence is in fact quite suspect.
Section snippets
The controversy
Contemporary racial typologies remain relatively intact from their inception by taxonomists at the time of the major European colonial expansion over 200 years ago, roughly corresponding to Linnaeus’ 1758 schema: Americanus rubescus (red), Europaeus albus (white), Asiaticus luridus (yellow), and Afer niger (black), (cited in: Lee, Mountain, & Koenig, 2001). While the specific criteria for best classifying individuals has been a topic of much consternation, the notion that people can be placed
The study
We conducted interviews with a purposive, snowball sample of human genetics researchers who use race and ethnicity as variables in their studies. We began by contacting researchers we already knew through various academic networks, then solicited scientists they recommended as possible subjects. We also contacted researchers who were publishing on related topics, or who had recently received federal funding for pertinent projects. We attempted to include researchers from a variety of
Concepts and practices
While our findings cannot be assumed to be generalizable beyond our small sample, analysis of the concepts and practices these researchers discuss clearly illustrate a number of deeply problematic aspects of using racial/ethnic variables in biological research. Consistent with the current common practice in health and clinical research, all of those we interviewed said they routinely collect racial/ethnic identifiers in their research. Most (n=24) used race/ethnicity as an important part of
Discussion
A number of serious problems with using race/ethnicity as a variable in genetics research have emerged in our analysis of our interviews with this group of genetic scientists. At the most basic level, the common racial/ethnic classifications they routinely use are of questionable value for delineating genetically related groups. The ubiquitous OMB categories in fact were designed for political and administrative purposes; they were not designed for use as scientific variables (Kertzer & Arel,
Acknowledgements
This research was supported by the National Institute of Health National Center for Human Genome Research through grant #HG2299-05. We wish to thank the researchers we interviewed, whose kind cooperation made this research possible. James Bielo, Nicole Truesdell, and Daniel Vacanti, provided invaluable assistance with a variety of data analysis and literature review tasks. Mr. Vacanti also made important contributions to the development of the argument we present here.
References (52)
The DNA revolution in population genetics
Trends in Genetics
(1998)- et al.
Call for a worldwide survey of human genetic diversity: A vanishing opportunity for the Human Genome Project
Genomics
(1991) - et al.
Should “acculturation” be a variable in health research? A critical review of research on US Hispanics
Social Science & Medicine
(2004) - et al.
Ethnicity and human genetic linkage maps
The American Journal of Human Genetics
(2005) - et al.
Genetic structure, self identified race/ethnicity, and confounding in case-control association studies
The American Journal of Human Genetics
(2005) - American Anthropological Association. (1997). Response to OMB Directive 15: Race and ethnic standards for federal...
Genetic influences on health: Does race matter?
Journal of the American Medical Association
(2005)Ethnic identities in plural societies
White, European, Western, Caucasian, or what? Inappropriate labeling in research on race, ethnicity, and health
American Journal of Public Health
(1998)- et al.
Sorting things out: Classification and its consequences
(1999)