Journal of Bioethical Inquiry

, Volume 9, Issue 4, pp 419–432 | Cite as

Genetic Research and Aboriginal and Torres Strait Islander Australians

  • Emma Kowal
  • Glenn Pearson
  • Chris S. Peacock
  • Sarra E. Jamieson
  • Jenefer M. Blackwell


While human genetic research promises to deliver a range of health benefits to the population, genetic research that takes place in Indigenous communities has proven controversial. Indigenous peoples have raised concerns, including a lack of benefit to their communities, a diversion of attention and resources from non-genetic causes of health disparities and racism in health care, a reinforcement of “victim-blaming” approaches to health inequalities, and possible misuse of blood and tissue samples. Drawing on the international literature, this article reviews the ethical issues relevant to genetic research in Indigenous populations and considers how some of these have been negotiated in a genomic research project currently under way in a remote Aboriginal community. We consider how the different levels of Indigenous research governance operating in Australia impacted on the research project and discuss whether specific guidelines for the conduct of genetic research in Aboriginal and Torres Strait Islander communities are warranted.


Genetic research Ethical issues Indigenous Aboriginal Torres Strait Islander Research governance 



Lobna Rouhani assisted with literature reviews for this article. Research on Aboriginal genetics carried out in the Blackwell laboratory is funded by the NHMRC and approved by WAAHIEC.

Details of Funding Support

EK is supported by an Australian National Health and Medical Research Council Training Fellowship for Aboriginal and Torres Strait Islander Health Research (#454813). GP is supported by an NHMRC Centre for Clinical Excellence. CP is funded by an ARC Future Fellowship (#FT0992120) and an NHRMC Project Grant (#634403). SJ is supported by NHMRC Project Grants (#APP1003817 and #634301) and a Brightspark Foundation Fellowship. JB is supported by an NHMRC Project Grant (#634301), a National Institutes of Health RO1 grant (AI076233-01), and the NIH Tropical Medicine Research Centre (#1P50AI074321-01).


  1. American Academy of Pediatrics. 2004. Ethical considerations in research with socially identifiable populations. Pediatrics 113(1): 148–151.CrossRefGoogle Scholar
  2. Anonymous. 1994. Concerns of “Vampire” project. Green Left Weekly, February 2. Accessed August 28, 2011.
  3. Arbour, L., and D. Cook. 2006. DNA on loan: Issues to consider when carrying out genetic research with Aboriginal families and communities. Community Genetics 9(3): 153–160.PubMedCrossRefGoogle Scholar
  4. Arbour, L., E. Yoshida, and L. Field. 2004. The mystery of primary biliary cirrhosis in British Columbia’s First Nations people. International Journal of Circumpolar Health 63(Supplement 2): 185–188.PubMedGoogle Scholar
  5. Australian Institute of Health and Welfare, and Australian Bureau of Statistics. 2008. The health and welfare of Australia’s Aboriginal and Torres Strait Islander peoples, 2008. Canberra: Australian Bureau of Statistics.Google Scholar
  6. Australian Law Reform Commission. 2003. Essentially yours: The protection of human genetic information in Australia—section 36: Kinship and identity. Canberra: Australian Government Publishing Service.Google Scholar
  7. Bowekaty, M., and D. Davis. 2003. Cultural issues in genetic research with American Indian and Alaskan Native people. IRB: Ethics and Human Research 25(4): 12–15.PubMedCrossRefGoogle Scholar
  8. Bowen, D., and V. Penchaszadeh. 2008. Special issue: Enhancing minority recruitment into genetics research. Public Health Genomics 11(4): 189–190.Google Scholar
  9. Brodwin, P. 2002. Genetics, identity and the anthropology of essentialism. Anthropological Quarterly 75(2): 323–330.CrossRefGoogle Scholar
  10. Burhansstipanov, L., L.T. Bemis, and M. Dignan. 2002. Native American recommendations for genetic research to be culturally respectful. Jurimetrics 42(2): 149–157.PubMedGoogle Scholar
  11. Burt, T., B. Currie, C. Kilburn, et al. 1996. Machado-Joseph disease in East Arnhem Land, Australia. Chromosome 14q32.1 expanded repeat confirmed in four families. Neurology 46(4): 1118–1122.PubMedCrossRefGoogle Scholar
  12. Canadian Institutes of Health Research, and Institute for Aboriginal Peoples Health. 2001. Community based DNA banking: An exploratory workshop on a tribal controlled DNA bank. Vancouver: University of British Columbia.Google Scholar
  13. Canadian Institutes of Health Research (CIHR). 2007. CIHR guidelines for health research involving Aboriginal people. Canadian Institutes of Health Research.
  14. Castellano, M.B. 2004. Ethics of Aboriginal health research. Journal of Aboriginal Health 1(1): 98–114.Google Scholar
  15. Caulfield, T., A.L. McGuire, M. Cho, et al. 2008. Research ethics recommendations for whole-genome research: Consensus statement. PLoS Biology 6(3): e73. doi: 10.1371/journal.pbio.0060073.PubMedCrossRefGoogle Scholar
  16. Cooke, M., F. Mitrou, D. Lawrence, E. Guimond, and D. Beavon. 2007. Indigenous well-being in four countries: An application of the UNDP’S Human Development Index to Indigenous peoples in Australia, Canada, New Zealand, and the United States. BioMed Central International Health and Human Rights 7: 9. doi: 10.1186/1472-698X-7-9.PubMedCrossRefGoogle Scholar
  17. Council for Responsible Genetics. 2006. Report on race and genetic determinism. Accessed December 11, 2011.
  18. Cunningham, H. 1998. Colonial encounters in postcolonial contexts: Patenting indigenous DNA and the Human Genome Diversity Project. Critique of Anthropology 18(2): 205–233.CrossRefGoogle Scholar
  19. Cunningham, C., and F. Stanley. 2003. Indigenous by definition, experience, or world view. British Medical Journal 327(7412): 403–404.PubMedCrossRefGoogle Scholar
  20. Davey-Smith, G. 2007. Capitalising on Mendelian randomization to assess the effects of treatments. Journal of Social Medicine 100(9): 432–435.CrossRefGoogle Scholar
  21. Dodson, M. 2000. Human genetics: Control of research and sharing of benefits. Australian Aboriginal Studies, no. 1 and 2: 56–64.Google Scholar
  22. Dodson, M., and R. Williamson. 1999. Indigenous peoples and the morality of the Human Genome Diversity Project. Journal of Medical Ethics 25(2): 204–208.PubMedCrossRefGoogle Scholar
  23. Dukepoo, F.C. 1998. Genetic services in the new era: Native American perspectives. Community Genetics 1(3): 130–133.PubMedCrossRefGoogle Scholar
  24. Du Plessis, R., A. Scott, H. Phillips, F. Cram, B. Tipene-Matua, and A. Winstanley. 2004. The social, cultural, ethical and spiritual implications of genetic testing. University of Canterbury: Social Science Research Centre. Google Scholar
  25. Durie, M.H. 2003. The health of indigenous peoples: Depends on genetics, politics, and socioeconomic factors. British Medical Journal 326(7388): 510–511.PubMedCrossRefGoogle Scholar
  26. Duster, T. 2003. Buried alive: The concept of race in science. In Genetic nature/culture: Anthropology and science beyond the two-culture divide, ed. A.H. Goodman, D. Heath, and M.S. Lindee, 258–277. Berkeley: University of California Press.Google Scholar
  27. Ebrahim, S., and G. Davey Smith. 2008. Mendelian randomization: Can genetic epidemiology help reduce the failures of observational epidemiology? Human Genetics 123(1): 15–33.PubMedCrossRefGoogle Scholar
  28. Elger, B. 2010. Ethical issues of human genetic databases: A challenge to classical health research ethics? Burlington: Ashgate.Google Scholar
  29. Foster, M., and R. Sharp. 2000. Genetic research and culturally specific risks: One size does not fit all. Trends in Genetics 16(2): 93–95.PubMedCrossRefGoogle Scholar
  30. Foster, M.W., D. Bernsten, and T.H. Carter. 1998. A model agreement for genetic research in socially identifiable populations. American Journal of Human Genetics 63(3): 696–702.PubMedCrossRefGoogle Scholar
  31. Freimuth, V.S., S.C. Quinn, S.B. Thomas, G. Cole, E. Zook, and T. Duncan. 2001. African Americans’ views on research and the Tuskegee Syphilis study. Social Science and Medicine 52(5): 797–808.PubMedCrossRefGoogle Scholar
  32. Glass, K., and J. Kaufert. 2002. Continuing the dialogue: Genetic research with Aboriginal individuals and communities. Vancouver: National Council for Ethics in Human Research, Canadian Commission for UNESCO and Health Canada.Google Scholar
  33. Greely, H.T. 1998. Legal, ethical, and social issues in human genome research. Annual Review of Anthropology 27: 473–502.PubMedCrossRefGoogle Scholar
  34. Hausman, D. 2008. Protecting groups from genetic research. Bioethics 22(3): 157–165.PubMedCrossRefGoogle Scholar
  35. Hook, G.R. 2009. “Warrior genes” and the disease of being Maori. MAI Review, no. 2: 1–11.Google Scholar
  36. Health Research Council of New Zealand (HRCNZ). 2008. Guidelines for researchers on health research involving Maori. Auckland: Health Research Council of New Zealand.Google Scholar
  37. Hudson, M., A. Ahuriri-Driscoll, M. Lea, and R. Lea. 2007. Whakapapa—a foundation for genetic research? Journal of Bioethical Inquiry 4(1): 43–49.CrossRefGoogle Scholar
  38. Humphery, K. 2001. Dirty questions: Indigenous health and “Western research.” Australian and New Zealand Journal of Public Health 25(3): 197–202.PubMedCrossRefGoogle Scholar
  39. Indigenous Peoples Council on Biocolonialism. 2000. Indigenous peoples, genes and genetics: What indigenous peoples should know about biocolonialism. Accessed August 15, 2010.
  40. Juengst, E. 1994. Human genome research and the public interest: progress notes from an American science policy experiment. American Journal of Human Genetics 54(1): 121–128.PubMedGoogle Scholar
  41. Khoury, M.J. 2009. The scientific foundation for personal genomics: Recommendations from a National Institute of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genetics in Medicine 11(8): 559–567.PubMedCrossRefGoogle Scholar
  42. Knoppers, B. 2000. Population genetics and benefit sharing. Community Genetics 3(4): 212–214.PubMedCrossRefGoogle Scholar
  43. Kowal, E. 2012. Genetic research in Indigenous health: Significant progress, substantial challenges. Medical Journal of Australia 197(1): 19–20.PubMedCrossRefGoogle Scholar
  44. Kowal, E., and I. Anderson. 2012. Genetic research in Aboriginal and Torres Strait Islander communities: Continuing the conversation. Melbourne: Lowitja Institute.Google Scholar
  45. Kowal, E., I. Anderson, and R. Bailie. 2005. Moving beyond good intentions: Indigenous participation in Aboriginal and Torres Strait Islander health research. Australian Journal of Public Health 29(5): 468–470.CrossRefGoogle Scholar
  46. Kowal, E., L. Rouhani, and I. Anderson. 2011. Genetic research in Aboriginal and Torres Strait Islander communities: Beginning the conversation. Melbourne: Lowitja Institute.Google Scholar
  47. Lea, R. 2006. Tracking the evolutionary history of the Warrior gene in the South Pacific. Paper presented at the 11th meeting of the International Congress of Human Genetics, August 6–10, in Brisbane, Australia.Google Scholar
  48. Lea, R., and G. Chambers. 2007. Monoamine oxidase, addiction, and the “Warrior” gene hypothesis. The New Zealand Medical Journal 120(1250): 1–6.Google Scholar
  49. Lone Dog, L. 1999. Whose genes are they? The Human Genome Diversity Project. Journal of Health and Social Policy 10(4): 51–66.PubMedCrossRefGoogle Scholar
  50. MacIntosh, C. 2005. Indigenous self-determination and research on human genetic material: A consideration of the relevance of debates on patents and informed consent, and the political demands on researchers. Health Law Journal 13: 213–252.PubMedGoogle Scholar
  51. Marks, J. 2003. Human Genome Diversity Project: Impact on indigenous communities. In Encyclopedia of the human genome, vol. 3, ed. D.N. Cooper, 335–338. London: Macmillan.Google Scholar
  52. Marks, J. 2005. Your body, my property: The problem of colonial genetics in a post-colonial world. In Embedding ethics, ed. L. Meskel and P. Pels, 29–45. Oxford: Berg.Google Scholar
  53. Mead, A. 1996. Genealogy, sacredness, and the commodities market. Cultural Survival Quarterly 20(2): 46–52.Google Scholar
  54. Mello, M.M., and L.E. Wolf. 2010. The Havasupai Indian tribe case: lessons for research involving stored biological samples. The New England Journal of Medicine 36(3): 204–207.CrossRefGoogle Scholar
  55. Metcalfe, S.A., A.H. Bittles, P. O’Leary, and J. Emery. 2009. Australia: Public health genomics. Public Health Genomics 12(2): 121–128.PubMedCrossRefGoogle Scholar
  56. Morrin, H., S. Gunningham, M. Currie, G. Dachs, F. Fox, and B. Robinson. 2005. The Christchurch Tissue Bank to support cancer research. Journal of the New Zealand Medical Association 118(1225): 1–12.Google Scholar
  57. National Health and Medical Research Council (NHMRC). No date. Criteria for health and medical research of Indigenous Australians. Canberra: National Health and Medical Research Council.Google Scholar
  58. National Health and Medical Research Council (NHMRC). 2003. Values and ethics: Guidelines for conduct of Aboriginal and Torres Strait Islander health research. Canberra: National Health and Medical Research Council.Google Scholar
  59. National Health and Medical Research Council (NHMRC). 2006. Keeping research on track: A guide for Aboriginal and Torres Strait Islander peoples about health research ethics. Canberra: National Health and Medical Research Council.Google Scholar
  60. National Health and Medical Research Council (NHMRC). 2010. Road map II: A strategic framework for improving the health of Aboriginal and Torres Strait Islander people through research. Canberra: National Health and Medical Research Council.Google Scholar
  61. Paradies, Y., M.J. Montoya, and S.M. Fullerton. 2007. Racialized genetics and the study of complex diseases: The thrifty genotype revisited. Perspectives in Biology and Medicine 50(2): 203–227.PubMedCrossRefGoogle Scholar
  62. Pearce, N., S. Foliaki, A. Sporle, and C. Cunningham. 2004. Genetics, race, ethnicity, and health. British Medical Journal 328(7477): 1070–1072.PubMedCrossRefGoogle Scholar
  63. Port, R.V., J. Arnold, D. Kerr, N. Glavish, and I. Winship. 2008. Cultural enhancement of a clinical service to meet the needs of indigenous people: Genetic service development in response to issues for New Zealand Maori. Clinical Genetics 73(2): 132–138.PubMedCrossRefGoogle Scholar
  64. Ramos, E., and C. Rotimi. 2009. The A’s, G’s, C’s, and T’s of health disparities. BioMed Central Medical Genomics 2: 29. doi: 10.1186/1755-8794-2-29.PubMedGoogle Scholar
  65. Reardon, J. 2005. Race to the finish: Identity and governance in an age of genomics. Princeton: Princeton University Press.Google Scholar
  66. Rimmer, M. 2007. The genographic project: Traditional knowledge and population genetics. Australian Indigenous Law Review 11(2): 33–54.Google Scholar
  67. Rose, N. 2001. The politics of life itself. Theory, Culture and Society 18(6): 1–30.CrossRefGoogle Scholar
  68. Sanner, J., and L. Frazier. 2007. Factors that influence characteristics of genetic biobanks. Journal of Nursing Scholarship 39(1): 25–29.PubMedCrossRefGoogle Scholar
  69. Scott, A., H. Phillips, A. Moore, and R. Du Plessis. 2005. Ethics in practice: Conversations about biobanks. Critical Public Health 15(4): 359–368.CrossRefGoogle Scholar
  70. Sharp, R., and M. Foster. 2002. Community involvement in the ethical review of genetic research: Lessons from American Indian and Alaska Native populations. Environmental Health Perspectives 110(2): 145–148.PubMedCrossRefGoogle Scholar
  71. Smith, L.T. 1999. Decolonizing methodologies, research and indigenous peoples. London and New York: Zed Books Ltd.Google Scholar
  72. Stoke, J. 2006. Family tragedy behind gene work. New Zealand Herald, August 12.
  73. Sutton, P. 2005. Social scientists and Native Title cases in Australia. Public Archaeology 4(2 and 3): 121–126.CrossRefGoogle Scholar
  74. TallBear, K. 2001. The tribal specific approach to genetic research and technology. Wellington: University of Victoria.Google Scholar
  75. TallBear, K. 2003. DNA, blood, and racializing the tribe. Wicazo SA Review 18(1): 81–107.CrossRefGoogle Scholar
  76. Tano, M. 2006. Interrelationships among native peoples, genetic research, and the landscape: Need for further research into ethical, legal, and social issues (DNA fingerprinting and civil liberties). Journal of Law, Medicine, and Ethics 34(2): 301–309.PubMedCrossRefGoogle Scholar
  77. UNESCO. 2006. Permanent forum on indigenous issues report on the fifth session (15–26 May 2006). New York: United Nations.Google Scholar
  78. van Holst Pellekaan, S. 2000. Genetic research: What does this mean for Indigenous Australian communities? Australian Aboriginal Studies, no. 1 and 2: 65–75.Google Scholar
  79. Wade, N. 2005. Genetic find stirs debate on race-based medicine. The New York Times, November 11.
  80. Wiwchar, D. 2004. Nuu-Chah-Nulth blood returns to west coast. Ha-Shilth-Sa Newsletter 31(25): 1–4.Google Scholar
  81. Wolf, L.E. 2010. Advancing research on stored biological materials: Reconciling law, ethics and practice. Minnesota Journal of Law, Science and Technology 11(1): 99–156.Google Scholar

Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  • Emma Kowal
    • 1
  • Glenn Pearson
    • 2
  • Chris S. Peacock
    • 3
  • Sarra E. Jamieson
    • 2
  • Jenefer M. Blackwell
    • 2
  1. 1.School of Social and Political SciencesUniversity of MelbourneMelbourneAustralia
  2. 2.Telethon Institute for Child Health ResearchWest PerthAustralia
  3. 3.University of Western AustraliaPerthAustralia

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