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

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).

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See e.g., Duster T. , “Race and Reification in Science,” Science 307, no. 5712 (2005): 1050–1051; 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. 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.

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Aldhous P. , “Geneticist Fears ‘Race-Neutral’ Studies Will Fail Ethnic Groups,” Nature 418, no. 6896 (2002): 355–356; Burchard E. G. , “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. 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. , “Categorization of Humans in Biomedical Research: Genes, Race and Disease,” Genome Biology 3, no. 7 (2002): 1–12.

Foster M. W. Sharp R. R. , “Race, Ethnicity, and Genomics: Social Classifications as Proxies of Biological Heterogeneity,” Genome Research 12, no. 6 (2002): 844–850; Foster M. W. 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.

Sankar P. Cho M. K. , “Genetics: Toward a New Vocabulary of Human Genetic Variation,” Science 298, no. 5597 (2002): 1337–1338, at 1338; see also Kaplan J. B. 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.

Keita S. O. Y. 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): 569–575, at 574–575; see also Keita S. O. Y. , “Conceptualizing Human Variation,” Nature Genetics 36, Supplement 1 (2004): S17–S20; Risch , supra note 5.

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For a complete list of groups participating in the HapMap, see <http://www.hapmap.org/groups.html> (last visited May 15, 2008).

The International HapMap Consortium, “The International HapMap Project,” Nature 426, no. 6968 (2003): 789–796.

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.

The International HapMap Consortium, “A Haplotype Map of the Human Genome,” Nature 437, no. 7063 (2005): 1299–1320; The International HapMap Consortium, “A Second Generation Human Haplotype Map of Over 3.1 Million SNPs,” Nature 449, no. 7164 (2007): 851–861.

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.

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).

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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).

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. , “Proposed Model Ethical Protocol for Collecting DNA Samples,” Houston Law Review 33, no. 5 (1997): 1431–1474; see also Reardon , supra note 19, at 98–155.

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).

The International HapMap Consortium, “Opinion: Integrating Ethics and Science in the International HapMap Project,” Nature Reviews Genetics 5, no. 6 (2004): 467–475.

David Altschuler, HapMap Researcher, interview with D. Rotman, “Genes, Medicine, and the New Race Debate,” Technology Review 106, no. 5 (2003): 41–50, at 46.

See The International HapMap Consortium, supra note 25, at 469.

See Ossorio , supra note 17.

See The International HapMap Consortium, supra note 25, at 469.

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).

See, for example, Montpetit A. , “An Evaluation of the Performance of Tag SNPs Derived from HapMap in a Caucasian Population,” PLoS Genetics 2, no. 3 (2006): 282–290; Pandit B. , “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. , “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.

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).

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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).