Hostname: page-component-848d4c4894-75dct Total loading time: 0 Render date: 2024-05-20T13:42:36.300Z Has data issue: false hasContentIssue false

Revitalizing Difference in the HapMap: Race and Contemporary Human Genetic Variation Research

Published online by Cambridge University Press:  01 January 2021

Extract

In 2000, researchers from the Human Genome Project (HGP) proclaimed that the initial sequencing of the human genome definitively proved, among other things, that there was no genetic basis for race. The genetic fact that most humans were 99.9% the same at the level of their DNA was widely heralded and circulated in the English-speaking press, especially in the United States. This pronouncement seemed proof that long-term antiracist efforts to de-biologize race were legitimized by scientific findings. Yet, despite the seemingly widespread acceptance of the social construction of race, post-HGP genetic science has seen a substantial shift toward the use of race variables in genetic research and, according to a number of prominent scholars, is re-invoking the specter of earlier forms of racial science in some rather discomfiting ways. During the past seven years, the main thrust of human genetic research, especially in the realm of biomedicine, has shifted from a concern with the 99.9% of the shared genome — what is thought to make humans alike — towards an explicit focus on the 0.1% that constitutes human genetic variation. Here I briefly explore some of the potential implications of the conceptualization and practice of early 21st century genetic variation research, especially as it relates to questions of race.

Type
Symposium
Copyright
Copyright © American Society of Law, Medicine and Ethics 2008

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

National Human Genome Resource Institute, “International Consortium Completes Map of Human Genetic Variation,” National Institutes of Health News, October 2005, available at <http://www.genome.gov/17015412> (last visited May 15, 2008).+(last+visited+May+15,+2008).>Google Scholar
Venter, J. C., “Remarks at the Human Genome Announcement,” Functional & Integrative Genomics 1, no. 3 (2000): 154155.CrossRefGoogle Scholar
See e.g., Duster, T., “Race and Reification in Science,” Science 307, no. 5712 (2005): 10501051; Kahn, J., “Misreading Race and Genomics after BiDil,” Nature Genetics 37, no. 7 (2005): 655–656. Prior to this more recent shift to race in genetics, race was a controversial category of investigation in medical, epidemiological, and other kinds of clinical research throughout the 1990s. See e.g., Osborne, N. G. and Feit, M. D., “The Use of Race in Medical Research,” JAMA 267, no. 2 (1992): 275–279; Williams, D. R., “Race and Health: Basic Questions, Emerging Directions,” Annals of Epidemiology 7, no. 5 (1997): 322–333; Witzig, R., “The Medicalization of Race: Scientific Legitimization of a Flawed Social Construct,” Annals of Internal Medicine 125, no. 8 (1996): 675–679; Fullilove, M. T., “Comment: Abandoning ‘Race’ as a Variable in Public Health Research — An Idea Whose Time Has Come,” American Journal of Public Health 88, no. 9 (1998): 1297–1298. Special thanks to an anonymous reviewer for clarifying this point.CrossRefGoogle Scholar
Risch, N., “Dissecting Racial and Ethnic Differences,” New England Journal of Medicine 354, no. 4 (2006): 408411.CrossRefGoogle Scholar
Aldhous, P., “Geneticist Fears ‘Race-Neutral’ Studies Will Fail Ethnic Groups,” Nature 418, no. 6896 (2002): 355356; Burchard, E. G. et al., “The Importance of Race and Ethnic Background in Biomedical Research and Clinical Practice,” New England Journal of Medicine 348, no. 12 (2003): 1170–1175; Daar, A. S. and Singer, P. A., “Pharmacogenetics and Geographical Ancestry: Implications for Drug Development and Global Health,” Nature Reviews Genetics 6, no. 3 (2005): 241–246; Risch, N. et al., “Categorization of Humans in Biomedical Research: Genes, Race and Disease,” Genome Biology 3, no. 7 (2002): 1–12.CrossRefGoogle Scholar
Foster, M. W. and Sharp, R. R., “Race, Ethnicity, and Genomics: Social Classifications as Proxies of Biological Heterogeneity,” Genome Research 12, no. 6 (2002): 844850; Foster, M. W. and Sharp, R. R., “Beyond Race: Towards a Whole-Genome Perspective on Human Populations and Genetic Variation,” Nature Reviews Genetics 5, no. 10 (2004): 790–796.CrossRefGoogle Scholar
Sankar, P. and Cho, M. K., “Genetics: Toward a New Vocabulary of Human Genetic Variation,” Science 298, no. 5597 (2002): 13371338, at 1338; see also Kaplan, J. B. and Bennett, T., “Use of Race and Ethnicity in Biomedical Publication,” JAMA 289, no. 20 (2003): 2709–2716; “Ethnicity, Race, and Culture: Guidelines for Research, Audit, and Publication,” BMJ 312, no. 7038 (1996): 1094; Race, , Ethnicity, and Genetics Working Group, “The Use of Racial, Ethnic, and Ancestral Categories in Human Genetics Research,” American Journal of Human Genetics 77, no. 4 (2005): 519–532.CrossRefGoogle Scholar
Keita, S. O. Y. and Boyce, A. J., Letter to the Editor, “‘Race’: Confusion about Zoological and Social Taxonomies, and Their Places in Science,” American Journal of Human Biology 13, no. 5 (2001): 569575, at 574–575; see also Keita, S. O. Y. et al., “Conceptualizing Human Variation,” Nature Genetics 36, Supplement 1 (2004): S17–S20; Risch, et al., supra note 5.CrossRefGoogle Scholar
Taylor, C., “The Politics of Recognition,” in Gutmann, A., ed., Multiculturalism (Princeton: Princeton University Press, 1994): 2573.CrossRefGoogle Scholar
M’Charek, A., “The Mitochondrial Eve of Modern Genetics: Of Peoples and Genomes, or the Routinization of Race,” Science as Culture 14, no. 2 (2005): 161183.CrossRefGoogle Scholar
For a complete list of groups participating in the HapMap, see <http://www.hapmap.org/groups.html> (last visited May 15, 2008).+(last+visited+May+15,+2008).>Google Scholar
The International HapMap Consortium, “The International HapMap Project,” Nature 426, no. 6968 (2003): 789796.CrossRefGoogle Scholar
Samples from indigenous populations were not included in the HapMap. Some American Indian groups were consulted by the NHGRI in 2003: “Most of the attendees were not interested in tribal participation in such a study at this time, citing concerns that the HapMap will facilitate population-history studies and comparisons among populations.” Id., at 471.Google Scholar
The International HapMap Consortium, “A Haplotype Map of the Human Genome,” Nature 437, no. 7063 (2005): 12991320; The International HapMap Consortium, “A Second Generation Human Haplotype Map of Over 3.1 Million SNPs,” Nature 449, no. 7164 (2007): 851–861.CrossRefGoogle Scholar
These populations were Maasai in Kinyawa, Kenya; Luhya in Webuye, Kenya; Chinese in metropolitan Denver, CO, U.S.A. area; Gujarati Indians in Houston, TX, U.S.A.; Toscani in Italia (Tuscans in Italy); African ancestry in the Southwest U.S.A.; and Mexican ancestry in Los Angeles, CA, U.S.A. These samples will be used to further validate and hone the HapMap. See Coriell Institute for Medical Research, “International HapMap Project,” available at http://ccr.coriell.org/Sections/Collections/NHGRI/hapmap.aspx?PgId=266 (last visited May 15, 2008). In addition, the author was part of an NHGRI-sponsored team that participated in community consultation with and sample collection from Gujarati Indians from Houston.Google Scholar
Coriell Institute for Medical Research, “NHGRI Sample Repository for Human Genetic Research,” available at <http://ccr.coriell.org/Sections/Collections/NHGRI/?SsId=11> (last visited May 15, 2008).+(last+visited+May+15,+2008).>Google Scholar
Lee, S. S. and Koenig, B. A., “Racial Profiling of DNA Samples: Will It Affect Scientific Knowledge about Human Genetic Variation?” in Knoppers, B. M., ed., Populations and Genetics: Legal and Socio-Ethical Perspectives (Leiden and Boston: Martinus Nijhoff, 2003): At 231–244; Ossorio, P. N., “Race, Genetic Variation, and the Haplotype Mapping Project,” Louisiana Law Review 66 (2005): 131–143.Google Scholar
Cavalli-Sforza, L. L., “The Human Genome Diversity Project: Past, Present and Future,” Nature Reviews Genetics 6, no. 4 (2005): 333340, at 333.CrossRefGoogle Scholar
Reardon, J., Race to the Finish: Identity and Governance in an Age of Genomics (Princeton: Princeton University Press, 2005).Google Scholar
Marks, J., “‘We're Going to Tell These People Who They Really Are’: Science and Relatedness,” in Franklin, S. and McKinnon, S., eds., Relative Values: Reconfiguring Kinship Studies (Durham, NC: Duke University Press, 2001): 355383, at 380.CrossRefGoogle Scholar
Guerrero, M. A. J., “Global Genocide and Biocolonialism: On the Effect of the Human Genome Diversity Project on Targeted Indigenous Peoples/Ecocultures as ‘Isolates of Historic Interest,’” in Aldama, A. J., ed., Violence and the Body: Race, Gender, and the State (Bloomington: Indiana University Press, 2003): 171188; Harry, D., “The Human Genome Diversity Project: Implications for Indigenous Peoples,” in Grewal, I. and Kaplan, C., eds., An Introduction to Women's Studies: Gender in a Transnational World (Boston: McGraw-Hill, 2002): at 125–128. For a comprehensive discussion of the HGDP and its controversies, see Reardon, , supra note 19.Google Scholar
Harry, D., Indigenous Peoples Council on Biocolonialism, “The Human Genome Diversity Project and Its Implications for Indigenous Peoples,” January 1995, available at <http://www.ipcb.org/publications/briefing_papers/files/hgdp.html> (last visited May 15, 2008).+(last+visited+May+15,+2008).>Google Scholar
Morrison Institute for Population and Resource Studies, “Model Ethical Protocol for Collecting DNA Samples,” available at <http://www.stanford.edu/group/morrinst/hgdp/protocol.html> (last visited May 15, 2008); Weiss, K. M. et al., “Proposed Model Ethical Protocol for Collecting DNA Samples,” Houston Law Review 33, no. 5 (1997): 14311474; see also Reardon, , supra note 19, at 98–155.Google Scholar
Despite this failure, the original vision of HGDP scientists has continued in other forms including various diversity projects organized along nation-state lines as well as the privately-funded Genographic Project sponsored by National Geographic, IBM, and the Waite Family Foundation. See Cavalli-Sforza, L. L., “Diversity Project Takes Time but Reaps Rewards,” Nature 428, no. 6982 (2004): 467; Cavalli-Sforza, , supra note 18; The Genographic Project, available at <https://www3.nationalgeographic.com/genographic/> (last visited May 15, 2008).CrossRefGoogle Scholar
The International HapMap Consortium, “Opinion: Integrating Ethics and Science in the International HapMap Project,” Nature Reviews Genetics 5, no. 6 (2004): 467475.CrossRefGoogle Scholar
David Altschuler, HapMap Researcher, interview with Rotman, D., “Genes, Medicine, and the New Race Debate,” Technology Review 106, no. 5 (2003): 4150, at 46.Google Scholar
See The International HapMap Consortium, supra note 25, at 469.Google Scholar
See Ossorio, , supra note 17.Google Scholar
See The International HapMap Consortium, supra note 25, at 469.Google Scholar
Coriell Institute for Medical Research, “Human Population Collections,” available at <http://ccr.coriell.org/Sections/Collections/NIGMS/Populations.aspx?PgId=177&coll=GM> (last visited May 15, 2008).+(last+visited+May+15,+2008).>Google Scholar
See, for example, Montpetit, A. et al., “An Evaluation of the Performance of Tag SNPs Derived from HapMap in a Caucasian Population,” PLoS Genetics 2, no. 3 (2006): 282290; Pandit, B. et al., “A Detailed Hapmap of the Sitosterolemia Locus Spanning 69 kb; Differences between Caucasians and African-Americans,” BMC Medical Genetics 7, no. 1 (2006): 1–11, available at <http://www.biomedcentral.com/1471–2350/7/13> (last visited May 15, 2008); Tang, H. et al., “Genetic Structure, Self-identified Race/Ethnicity, and Confounding in Case-Control Association Studies,” American Journal of Human Genetics 76, no. 2 (2005): 268–275. A full exploration of this research is beyond the scope of this paper, but there is nevertheless strong evidence to suggest that HapMap data not only has the potential to be used, but is already being used in medical genomics in ways that suggest the biological primacy of ancestry categories such as African, Asian, and European. Yet the specific ways in which researchers are using HapMap samples, and the implications thereof, have yet to be mapped.CrossRefGoogle Scholar
I further investigate these dynamics in a larger piece, “‘Frozen Moments’ in the HapMap: Some Ethnographic Speculations on Race, Human Genetic Variation Research, and Biomedicine” (in preparation).Google Scholar
Rose, N., The Politics of Life Itself: Biomedicine, Power, and Subjectivity in the Twenty-First Century (Princeton: Princeton University Press, 2007).CrossRefGoogle Scholar
Foucault, M., The History of Sexuality (New York: Vintage Books, 1988); Foucault, M., Society Must Be Defended: Lectures at the Collège de France, 1975–76 (New York: Picador, 2003).Google Scholar
I explore these questions in the specific context of the HapMap in another article, “From Practice to Substance: The Emergence of ‘Ethical Provenance’ in Human Genetic Variation Research” (in preparation).Google Scholar