Race and Ethnicity: Understanding Difference in the Genome Era

  • Shannon Kelly
  • Yashwant PathakEmail author


The Human Genome Diversity Project and International Haplotype Map Project introduced a unique set of questions regarding race in genetics. Race and ethnicity are complex concepts, consisting of much more than a simple biological definition. Differences in drug metabolism and drug susceptibility among races seem to imply that race is biological, and thus treatment should vary. However, evidence shows that environmental factors may contribute more to health disparities than any genetic difference. Studies investigating the effects of race often use self-identification. Though this method is more efficient than individual tests, it leads to inaccuracies and gives credence to ideas of biological difference. Furthermore, the use of self-identified race encourages neglect of important environmental factors. Race-based pharmaceuticals reify biological difference while creating a niche market. Attempts to regulate the use of race in genomics research promise future scholarly debate on the roles of race and ethnicity in genetics.


  1. 1.
    Clinton B, Blair T, Collins F, Venter C (2000) Speech presented at the White House. WashingtonGoogle Scholar
  2. 2.
    Olson M (2005) Human genome project. In the world book encyclopedia, vol 9. World Book, Inc., Chicago, p 427Google Scholar
  3. 3.
    Collins F, McKusick V (2001) Implications of the human genome project for medical science. J Am Med Assoc 285(5):540–544CrossRefGoogle Scholar
  4. 4.
    Holtzman N (2005) Genetic testing. In the world book encyclopedia, vol 8. World Book, Inc., Chicago, pp 85–86Google Scholar
  5. 5.
    Collins F (2004) What we do and don’t know about ‘race’, ‘ethnicity’, genetics and health at the dawn of the genome era. Nat Genet 36(11):S13–S15CrossRefPubMedGoogle Scholar
  6. 6.
    Patrinos A (2004) ‘Race’ and the human genome (sponsor’s foreword). Nat Genet 36(11):S1–S2CrossRefPubMedGoogle Scholar
  7. 7.
    Bonham VL, Warshauer-Baker E, Collins F (2005) Race and ethnicity in the genome era: the complexity of the constructs. Am Psychol 60(1):9–15CrossRefPubMedGoogle Scholar
  8. 8.
    Wald P (2006) Blood and stories: how genomics is rewriting race, medicine and human history. Patterns Prejudice 40(4):303–333CrossRefGoogle Scholar
  9. 9.
    Weiss K, Kidd K, Kidd J (1992) Human genome diversity project. Evol Anthropol 1(3):80–82CrossRefGoogle Scholar
  10. 10.
    Cavalli-Sforza L (2005) The human genome diversity project: past, present and future. Nat Rev Genet 6:333–340CrossRefPubMedPubMedCentralGoogle Scholar
  11. 11.
    The International HapMap Consortium (2003) The International HapMap Project. Nature 426:789–796CrossRefGoogle Scholar
  12. 12.
    Garnick M (2005) Medicine. In the world book encyclopedia, vol 13. World Book, Inc., Chicago, pp 363–378Google Scholar
  13. 13.
    Gostin L (1991) Genetic discrimination: the use of genetically based diagnostic and prognostic tests by employers and insurers. Am J Law Med 17(1):109–144PubMedGoogle Scholar
  14. 14.
    Black E (2003) War against the weak: eugenics and America’s campaign to create a master race. Thunder’s Mouth Press, New YorkGoogle Scholar
  15. 15.
    The International HapMap Consortium (2004) Integrating ethics and science in the International HapMap Project. Nat Rev Genet 5(6):467–475CrossRefPubMedCentralGoogle Scholar
  16. 16.
    Lucey BP, Nelson-Rees WA, Hutchins GM (2009) Henrietta lacks, HeLa cells, and cell culture contamination. Arch Pathol Lab Med 133(9):1463–1467PubMedGoogle Scholar
  17. 17.
    Ram N (2015) DNA by the entirety. Columbia Law Rev 115:873–939Google Scholar
  18. 18.
    Caplan A (2013) NIH finally makes good with Henrietta Lacks’ family—and it’s about time, ethicist says. NBC health news. Retrieved from
  19. 19.
    De Vries J, Jallow M, Williams T, Kwiatkowski D, Parker M, Fitzpatrick R (2012) Investigating the potential for ethnic group harm in collaborative genomics research in Africa: is ethnic stigmatisation likely? Soc Sci Med 75:1400–1407CrossRefPubMedPubMedCentralGoogle Scholar
  20. 20.
    Rowe D (2001) Review of the book the emperor’s new clothes: biological theories of race at the new millennium by Joseph L. Graves, Jr. Heredity 87:254CrossRefGoogle Scholar
  21. 21.
    Rose N (2006) Introduction to the discussion of race and ethnicity in nature genetics. BioSocieties 1(3):307–311CrossRefGoogle Scholar
  22. 22.
    Zeitlin I (2005) Social darwinism. In the world book encyclopedia, vol 18. World Book, Inc., Chicago, p 551Google Scholar
  23. 23.
    Pearl R (1912) The first international eugenics congress. Science 36(926):395–396CrossRefPubMedGoogle Scholar
  24. 24.
    Moon T, Mann P, Otto J, Kuntz J, Dury E (1958) Modern biology. Henry Holt and Company, New YorkGoogle Scholar
  25. 25.
    Morning A (2008) Reconstructing race in science and society: biology textbooks, 1952–2002. Am J Sociol 114:S106–S137CrossRefPubMedGoogle Scholar
  26. 26.
    Hakim J (1999) A history of US (Books 9–10). Oxford University Press, New YorkGoogle Scholar
  27. 27.
    Stearns P (2005) Eugenics. In the world book encyclopedia, vol 6. World Book, Inc., Chicago, p 377Google Scholar
  28. 28.
    Haller M (1963) Eugenics: hereditarian attitudes in American thought. Rutgers University Press, New BrunswickGoogle Scholar
  29. 29.
    Mersha T, Abebe T (2015) Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities. Hum Genomics 9(1):1CrossRefPubMedPubMedCentralGoogle Scholar
  30. 30.
    Dupre J (2008) What genes are and why there are no genes for race. In: Koenig B, Lee S, Richardson S (eds) Revisiting race in a genomic age. Rutgers University Press, New Brunswick, pp 39–55Google Scholar
  31. 31.
    Race (1997) In Webster’s new world college dictionary, 3rd edn. Macmillan General Reference, New YorkGoogle Scholar
  32. 32.
    Swedlund A (2005) Human races. In the world book encyclopedia, vol 16. World Book, Inc., Chicago, pp 53–60Google Scholar
  33. 33.
    Pettigrew T (2005) Ethnic group. In the world book encyclopedia, vol 6. World Book, Inc., Chicago, p 372Google Scholar
  34. 34.
    Newman H (1932) Evolution, genetics, and eugenics. The University of Chicago Press, ChicagoGoogle Scholar
  35. 35.
    Tang H, Quertermous T, Rodriguez B, Kardia S, Zhu X, Brown A, Pankow J, Province M, Hunt S, Boerwinkle E, Schork N, Risch N (2005) Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies. Am J Hum Genet 76:268–275CrossRefPubMedGoogle Scholar
  36. 36.
    Lewontin R (1972) The apportionment of human diversity. Evol Biol 6:381–398Google Scholar
  37. 37.
    Nebert DW, Menon AG (2001) Pharmacogenomics, ethnicity, and susceptibility genes. Pharmacogenomics J 1:19–22CrossRefPubMedGoogle Scholar
  38. 38.
    Rugnetta M, Desai K (2011) Addressing race and genetics: health disparities in the age of personalized medicine. Sci Prog, pp 1–23.
  39. 39.
    Cooper E (2008) One ‘speck’ of imperfection—invisible blackness and the one-drop rule: an interdisciplinary approach to examining Plessy V. Ferguson and Jane Doe V. State of Louisiana, Doctoral DissertationGoogle Scholar
  40. 40.
    Weaver R, Hedrick P (2005) Heredity. In the world book encyclopedia, vol 9. World Book, Inc., Chicago, pp 200–210Google Scholar
  41. 41.
    Morning A (2007) “Everyone knows it’s a social construct”: contemporary science and the nature of race. Sociol Focus 40(4):436–454CrossRefGoogle Scholar
  42. 42.
    Brody H, Hunt L (2006) BiDil: assessing a race-based pharmaceutical. Ann Fam Med 4(6):556–560CrossRefPubMedPubMedCentralGoogle Scholar
  43. 43.
    Callister P, Didham R (2009) Who are we? The human genome project, race and ethnicity. Soc Policy J N Z 36:63–76Google Scholar
  44. 44.
    Weiner W (2005) Huntington’s disease. In the world book encyclopedia, vol 9. World Book, Inc., Chicago, p 451Google Scholar
  45. 45.
    Green D (2005) Hemophilia. In the world book encyclopedia, vol 9. World Book, Inc., Chicago, pp 182–183Google Scholar
  46. 46.
    Matalon R (2005) Tay–Sachs disease. In the world book encyclopedia, vol 19. World Book, Inc., Chicago, p 56Google Scholar
  47. 47.
    Eckman J (2005) Sickle cell anemia. In the world book encyclopedia, vol 17. World Book, Inc., Chicago, p 448Google Scholar
  48. 48.
    Luzzatto L (2012) Sickle cell anemia and malaria. Mediterr J Hematol Infect Dis 4(1):e2012065CrossRefPubMedPubMedCentralGoogle Scholar
  49. 49.
    Ojodu J, Hulihan M, Pope S, Grant A (2014) Incidence of sickle cell trait—United States, 2010. Mortal Morb Wkly Rep 63(49):1155–1158Google Scholar
  50. 50.
    Hunt B, Whitman S, Hurlbert M (2013) Increasing black: white disparities in breast cancer mortality in the 50 largest cities in the United States. Cancer Epidemiol 38(2):118–123CrossRefGoogle Scholar
  51. 51.
    Risch N, Burchard E, Ziv E, Tang H (2002) Categorization of humans in biomedical research: genes, race and disease. Genome Biol 3(7):comment2007--1CrossRefGoogle Scholar
  52. 52.
    Wilson J, Weale M, Smith A, Gratrix F, Fletcher B, Thomas M, Bradman N, Goldstein D (2001) Population genetic structure of variable drug response. Nat Genet 29:265–269CrossRefPubMedGoogle Scholar
  53. 53.
    Yasuda SU, Zhang L, Huang S-M (2008) The role of ethnicity in variability in response to drugs: focus on clinical pharmacology studies. Clin Pharmacol Ther 84(3):417–423CrossRefPubMedGoogle Scholar
  54. 54.
    Zinn H (2005) A people’s history of the United States: 1492-Present. Harper Perennial Modern Classics, New YorkGoogle Scholar
  55. 55.
    Caulfield T, Fullerton S, Ali-Khan S, Arbour L, Burchard E, Cooper R, Hardy B, Harry S, Hyde-Lay R, Kahn J, Kittles R, Koenig B, Lee S, Malinowski M, Ravitsky V, Sankar P, Scherer S, Séguin B, Shickle D, Suarez-Kurtz G, Daar A (2009) Race and ancestry in biomedical research: exploring the challenges. Genome Med 1(1):8CrossRefPubMedPubMedCentralGoogle Scholar
  56. 56.
    Foster M, Sharp R (2002) Race, ethnicity, and genomics: social classifications as proxies of biological heterogeneity. Genome Res 12(6):844–850CrossRefPubMedGoogle Scholar
  57. 57.
    Slatkin M (2004) A population-genetic test of founder effects and implications for ashkenazi jewish diseases. Am J Hum Genet 75(2):282–293CrossRefPubMedPubMedCentralGoogle Scholar
  58. 58.
    Lehrman R (1966) Race, evolution, and mankind. Basic Books Inc., Publishers, New YorkGoogle Scholar
  59. 59.
    Johnson T, Kreider R (2013) Mapping interracial/interethnic married-couple households in the United States: 2010. Poster presented at the annual meeting of the population association of America, New OrleansGoogle Scholar
  60. 60.
    Destro-Bisol G, Maviglia R, Caglià A, Boschi I, Spedini G, Pascali V, Clark A, Tishkoff S (1999) Estimating European admixture in African Americans by using microsatellites and a microsatellite haplotype (CD4/Alu). Hum Genet 104(2):149–157CrossRefPubMedGoogle Scholar
  61. 61.
    Eschbach K, Supple K, Snipp CM (1998) Changes in racial identification and the educational attainment of American Indians, 1970–1990. Demography 35(1):35–43CrossRefPubMedGoogle Scholar
  62. 62.
    Hitlin S, Scott Brown J, Elder GH (2006) Racial self-categorization in adolescence: multiracial development and social pathways. Child Dev 77(5):1298–1308CrossRefPubMedGoogle Scholar
  63. 63.
    Dittmar L (1999) Review of the book race: the history of an idea in America by Thomas F. Gossett. Melus 24(2):186–188CrossRefGoogle Scholar
  64. 64.
    Obasogie OK (2008) Beyond best practices: strict scrutiny as a regulatory model for race-specific medicines. J Law Med Ethics 36(3):491–497CrossRefPubMedGoogle Scholar
  65. 65.
    Wilson D (2008) Should non-Maori research and write about Maori? There is a role for non-Maori nurse researchers, as long as they respect and observe Maori processes, and work collaboratively with the appropriate people. Kai Tiaki: Nursing New ZealandGoogle Scholar
  66. 66.
    Roberts D (2011) What’s wrong with race-based medicine?: genes, drugs, and health disparities. Minn J L Sci Technol 12(1):1–21Google Scholar
  67. 67.
    Cohn JN (1989) U.S. Patent No. 4,868,179. U.S. Patent and Trademark Office, WashingtonGoogle Scholar
  68. 68.
    Cohn JN, Carson P (2002) U.S. Patent No. 6,465,463. U.S. Patent and Trademark Office, WashingtonGoogle Scholar
  69. 69.
    U.S. Food and Drug Administration (2005) FDA approves BiDil heart failure drug for black patients [Press Release]. Retrieved from
  70. 70.
    Kahn J (2008) Exploiting race in drug development BiDil's interim model of pharmacogenomics. Soc Stud Sci 38(5):737–758CrossRefPubMedGoogle Scholar
  71. 71.
    Crockett D (2008) Marketing blackness: how advertisers use race to sell products. J Consum Cult 8(2):245–268CrossRefGoogle Scholar
  72. 72.
    Ghosh S (2007) Race specific patents, commercialization, & intellectual property policy. Buffalo Law Rev 56:409–466Google Scholar
  73. 73.
    Taylor A, Ziesche S, Yancy C, Carson P, D’Agostino R, Ferdinand K, Taylor M, Adams K, Sabolinski M, Worcel M, Cohn JN (2004) Combination of isosorbide dinitrate and hydralazine in blacks with heart failure. N Engl J Med 351(20):2049–2057CrossRefPubMedGoogle Scholar
  74. 74.
    Kahn J (2008) Patenting race in a genomic age. In: Koenig B, Lee S, Richardson S (eds) Revisiting race in a genomic age. Rutgers University Press, New Brunswick, pp 129–148Google Scholar
  75. 75.
    Kahn J (2003) Getting the numbers right: statistical mischief and racial profiling in heart failure research. Perspect Biol Med 46(4):473–483CrossRefPubMedGoogle Scholar
  76. 76.
    U.S. Department of Health and Human Services (2010) Disparities in healthcare quality among racial and ethnic minority groups: selected findings from the 2010 national healthcare quality and disparities reports. RockvilleGoogle Scholar
  77. 77.
    Cohn JN, Archibald D, Phil M, Ziesche S, Franciosa J, Harston W, Tristani F, Dunkman W, Jacobs W, Francis G, Flohr K, Goldman S, Cobb F, Shah P, Saunders R, Fletcher R, Loeb H, Hughes V, Baker B (1986) Effect of vasodilator therapy on mortality in chronic congestive heart failure. N Engl J Med 314(24):1547–1552CrossRefPubMedPubMedCentralGoogle Scholar
  78. 78.
    Cohn JN, Johnson G, Ziesche S, Cobb F, Francis G, Tristani F, Smith R, Dunkman B, Loeb H, Wong M, Bhat G, Goldman S, Fletcher R, Doherty J, Hughes V, Carson P, Cintron G, Shabetai R, Haakenson C (1991) A comparison of enalapril with hydralazine–isosorbide dinitrate in the treatment of chronic congestive heart failure. N Engl J Med 325(5):303–310CrossRefPubMedPubMedCentralGoogle Scholar
  79. 79.
    Temple R, Stockbridge N (2007) BiDil for heart failure in black patients: The U.S. food and drug administration perspective. Ann Intern Med 146(1):57–62CrossRefPubMedGoogle Scholar
  80. 80.
    Genomics and Personalized Medicine Act of 2006 (2006) S. 3822, 109th CongGoogle Scholar
  81. 81.
    Genomics and Personalized Medicine Act of 2010 (2010) H.R. 5440, 111th CongGoogle Scholar
  82. 82.
    U.S. Food and Drug Administration (2013) Paving the way for personalized medicine: FDA’s role in a new era of medical product development. WashingtonGoogle Scholar
  83. 83.
    U.S. Food and Drug Administration (2015) Proceedings from optimizing FDA’s regulatory oversight of next generation sequencing diagnostic tests public workshop. FDA, BethesdaGoogle Scholar
  84. 84.
    Meier RJ (2012) A critique of race-based and genomic medicine. Coll Antropol 36(1):5–10PubMedGoogle Scholar

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© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  1. 1.College of PharmacyUniversity of South Florida HealthTampaUSA

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