Revitalizing difference in the HapMap: Race and contemporary human genetic variation research

Journal of Law, Medicine and Ethics

Volumn 36, Issue 3, 2008, Pages 471-477

  Hamilton, Jennifer A ^a  

^a HAMPSHIRE COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOETHICS; CONFERENCE PAPER; GENETIC DATABASE; GENETIC VARIABILITY; GENETICS; HAPLOTYPE; HUMAN; HUMAN GENOME; RACE;

BIOETHICS; CONTINENTAL POPULATION GROUPS; DATABASES, GENETIC; GENETIC VARIATION; GENOME, HUMAN; HAPLOTYPES; HUMANS;

EID: 50249169886     PISSN: 10731105     EISSN: 1748720X     Source Type: Journal    
DOI: 10.1111/j.1748-720X.2008.293.x     Document Type: Conference Paper

References (35)

1. 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/l7015412 (last visited May 15, 2008).
2. J. C. Venter Remarks at the Human Genome Announcement Functional & Integrative Genomics 1, no. 3 (2000 154 155.
3. See e.g., T. Duster Race and Reification in Science Science 307, no. 5712 (2005 1050 1051 J. Kahn 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., N. G. Osborne and M. D. Feit The Use of Race in Medical Research JAMA 267, no. 2 (1992 275 279. D. R. Williams Race and Health: Basic Questions, Emerging Directions Annals of Epidemiology 7, no. 5 (1997 322 333 R. Witzig The Medicalization of Race: Scientific Legitimization of a Flawed Social Construct Annals of Internal Medicine 125, no. 8 (1996 675 679 M. T. Fullilove 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.
4. N. Risch Dissecting Racial and Ethnic Differences New England Journal of Medicine 354, no. 4 (2006 408 411.
5. P. Aldhous Geneticist Fears 'Race-Neutral' Studies Will Fail Ethnic Groups Nature 418, no. 6896 (2002 355 356 E. G. Burchard 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 A. S. Daar and P. A. Singer Pharmacogenetics and Geographical Ancestry: Implications for Drug Development and Global Health Nature Reviews Genetics 6, no. 3 (2005 241 246 N. Risch et al. Categorization of Humans in Biomedical Research: Genes, Race and Disease Genome Biology 3, no. 7 (2002 1 12.
6. M. W Foster and R. R. Sharp Race, Ethnicity, and Genom-ics: Social Classifications as Proxies of Biological Heterogeneity Genome Research 12, no. 6 (2002 844 850 M. W Foster and R. R. Sharp Beyond Race: Towards a Whole-Genome Perspective on Human Populations and Genetic Variation Nature Reviews Genetics 5, no. 10 (2004 790 796.
7. P. Sankar and M. K. Cho Genetics: Toward a New Vocabulary of Human Genetic Variation Science 298, no. 5597 (2002 1337 1338, at 1338 see also J. B. Kaplan and T. Bennett 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.
8. S. O. Y. Keita and A. J. Boyce, 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 S. O. Y. Keita et al. Conceptualizing Human Variation Nature Genetics 36, Supplement 1 (2004 S17 S20 Risch et al., supra note 5.
9. C. Taylor The Politics of Recognition in A. Gutmann, ed., Multiculturalism (Princeton: Princeton University Press, 1994 25 73.
10. A. M'Charek The Mitochondrial Eve of Modern Genetics: Of Peoples and Genomes, or the Routinization of Race Science as Culture 14, no. 2 (2005 161 183.
11. For a complete list of groups participating in the HapMap, see http://www.hapmap.org/groups.html last visited May 15, 2008).
12. The International HapMap Consortium The International HapMap Project Nature 426, no. 6968 (2003 789 796.
13. 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.
14. 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.
15. 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.
16. Coriell Institute for Medical Research NHGRI Sample Repository for Human Genetic Research available at http://ccr.coriell.org/Sections/Collections/NHGRI/ ?SsId=ll (last visited May 15, 2008).
17. S. S. Lee and B. A. Koenig Racial Profiling of DNA Samples: Will It Affect Scientific Knowledge about Human Genetic Variation in B. M. Knoppers, ed., Populations and Genetics: Legal and Socio-Ethical Perspectives (Leiden and Boston: Martinus Nijhoff, 2003 at 231-244 P. N. Ossorio Race, Genetic Variation, and the Haplotype Mapping Project Louisiana Law Review 66 (2005 131 143.
18. L. L. Cavalli-Sforza The Human Genome Diversity Project: Past, Present and Future Nature Reviews Genetics 6, no. 4 (2005 333 340, at 333.
19. J. Reardon, Race to the Finish: Identity and Governance in an Age of Genomics (Princeton: Princeton University Press, 2005).
20. J. Marks 'We're Going to Tell These People Who They Really Are': Science and Relatedness in S. Franklin and S. McKinnon, eds., Relative Values: Reconfiguring Kinship Studies (Durham, NC: Duke University Press, 2001 355 383, at 380.
21. M. A. J. Guerrero Global Genocide and Biocolonialism: On the Effect of the Human Genome Diversity Project on Targeted Indigenous Peoples/Ecocultures as 'Isolates of Historic Interest,' in A. J. Aldama, ed., Violence and the Body: Race, Gender, and the State (Bloomington: Indiana University Press, 2003 171 188 D. Harry The Human Genome Diversity Project: Implications for Indigenous Peoples in I. Grewal and C. Kaplan, 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.
22. D. Harry, 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).
23. Morrison Institute for Population and Resource Studies Model Ethical Protocol for Collecting DNA Samples available at http://www.stanford.edu/group/ morrinst/hgdp/pro-tocol.html last visited May 15, 2008 K. M. Weiss et al. 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.
24. 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 L. L. Cavalli-Sforza Diversity Project Takes Time but Reaps Rewards Nature 428, no. 6982 (2004 467 CavalliSforza, supra note 18; The Genographic Project, available at https://www3.nationalgeographic.com/genographic/ (last visited May 15, 2008).
25. The International HapMap Consortium Opinion: Integrating Ethics and Science in the International HapMap Project Nature Reviews Genetics 5, no. 6 (2004 467 475.
26. 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.
27. See The International HapMap Consortium, supra note 25, at 469.
28. See Ossorio, supra note 17.
29. See The International HapMap Consortium, supra note 25, at 469.
30. Coriell Institute for Medical Research Human Population Collections available at http://ccr.coriell.org/Sections/Col-lections/NIGMS/Populations. aspx?PgId=177&coll=GM last visited May 15, 2008).
31. See, for example, A. Montpetit et al. An Evaluation of the Performance of Tag SNPs Derived from HapMap in a Caucasian Population PLoS Genetics 2, no. 3 (2006 282 290 B. Pandit 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/l471- 2350/7/l3 (last visited May 15, 2008) H. Tang 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.
32. 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).
33. N. Rose, The Politics of Life Itself: Biomedicine, Power, and Subjectivity in the Twenty-First Century (Princeton: Princeton University Press, 2007).
34. M. Foucault, The History of Sexuality (New York: Vintage Books, 1988 M. Foucault, Society Must Be Defended: Lectures at the Collège de France, 1975-76 (New York: Picador, 2003).
35. 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).