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Race and Ethnicity: Understanding Difference in the Genome Era

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Genomics-Driven Healthcare

Abstract

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.

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References

  1. Clinton B, Blair T, Collins F, Venter C (2000) Speech presented at the White House. Washington

    Google Scholar 

  2. Olson M (2005) Human genome project. In the world book encyclopedia, vol 9. World Book, Inc., Chicago, p 427

    Google Scholar 

  3. Collins F, McKusick V (2001) Implications of the human genome project for medical science. J Am Med Assoc 285(5):540–544

    Article  CAS  Google Scholar 

  4. Holtzman N (2005) Genetic testing. In the world book encyclopedia, vol 8. World Book, Inc., Chicago, pp 85–86

    Google Scholar 

  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–S15

    Article  CAS  PubMed  Google Scholar 

  6. Patrinos A (2004) ‘Race’ and the human genome (sponsor’s foreword). Nat Genet 36(11):S1–S2

    Article  CAS  PubMed  Google Scholar 

  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):9–15

    Article  PubMed  Google Scholar 

  8. Wald P (2006) Blood and stories: how genomics is rewriting race, medicine and human history. Patterns Prejudice 40(4):303–333

    Article  Google Scholar 

  9. Weiss K, Kidd K, Kidd J (1992) Human genome diversity project. Evol Anthropol 1(3):80–82

    Article  Google Scholar 

  10. Cavalli-Sforza L (2005) The human genome diversity project: past, present and future. Nat Rev Genet 6:333–340

    Article  CAS  PubMed  Google Scholar 

  11. The International HapMap Consortium (2003) The International HapMap Project. Nature 426:789–796

    Article  CAS  Google Scholar 

  12. Garnick M (2005) Medicine. In the world book encyclopedia, vol 13. World Book, Inc., Chicago, pp 363–378

    Google Scholar 

  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):109–144

    PubMed  CAS  Google Scholar 

  14. Black E (2003) War against the weak: eugenics and America’s campaign to create a master race. Thunder’s Mouth Press, New York

    Google Scholar 

  15. The International HapMap Consortium (2004) Integrating ethics and science in the International HapMap Project. Nat Rev Genet 5(6):467–475

    Article  CAS  PubMed Central  Google Scholar 

  16. Lucey BP, Nelson-Rees WA, Hutchins GM (2009) Henrietta lacks, HeLa cells, and cell culture contamination. Arch Pathol Lab Med 133(9):1463–1467

    PubMed  Google Scholar 

  17. Ram N (2015) DNA by the entirety. Columbia Law Rev 115:873–939

    Google Scholar 

  18. Caplan A (2013) NIH finally makes good with Henrietta Lacks’ family—and it’s about time, ethicist says. NBC health news. Retrieved from http://www.nbcnews.com/health

  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 75:1400–1407

    Article  PubMed  PubMed Central  Google Scholar 

  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 87:254

    Article  Google Scholar 

  21. Rose N (2006) Introduction to the discussion of race and ethnicity in nature genetics. BioSocieties 1(3):307–311

    Article  Google Scholar 

  22. Zeitlin I (2005) Social darwinism. In the world book encyclopedia, vol 18. World Book, Inc., Chicago, p 551

    Google Scholar 

  23. Pearl R (1912) The first international eugenics congress. Science 36(926):395–396

    Article  CAS  PubMed  Google Scholar 

  24. Moon T, Mann P, Otto J, Kuntz J, Dury E (1958) Modern biology. Henry Holt and Company, New York

    Google Scholar 

  25. Morning A (2008) Reconstructing race in science and society: biology textbooks, 1952–2002. Am J Sociol 114:S106–S137

    Article  Google Scholar 

  26. Hakim J (1999) A history of US (Books 9–10). Oxford University Press, New York

    Google Scholar 

  27. Stearns P (2005) Eugenics. In the world book encyclopedia, vol 6. World Book, Inc., Chicago, p 377

    Google Scholar 

  28. Haller M (1963) Eugenics: hereditarian attitudes in American thought. Rutgers University Press, New Brunswick

    Google Scholar 

  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):1

    Article  PubMed  PubMed Central  Google Scholar 

  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 39–55

    Google Scholar 

  31. Race (1997) In Webster’s new world college dictionary, 3rd edn. Macmillan General Reference, New York

    Google Scholar 

  32. Swedlund A (2005) Human races. In the world book encyclopedia, vol 16. World Book, Inc., Chicago, pp 53–60

    Google Scholar 

  33. Pettigrew T (2005) Ethnic group. In the world book encyclopedia, vol 6. World Book, Inc., Chicago, p 372

    Google Scholar 

  34. Newman H (1932) Evolution, genetics, and eugenics. The University of Chicago Press, Chicago

    Google Scholar 

  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 76:268–275

    Article  CAS  PubMed  Google Scholar 

  36. Lewontin R (1972) The apportionment of human diversity. Evol Biol 6:381–398

    Google Scholar 

  37. Nebert DW, Menon AG (2001) Pharmacogenomics, ethnicity, and susceptibility genes. Pharmacogenomics J 1:19–22

    Article  CAS  PubMed  Google Scholar 

  38. Rugnetta M, Desai K (2011) Addressing race and genetics: health disparities in the age of personalized medicine. Sci Prog, pp 1–23. https://cdn.americanprogress.org/wp-content/uploads/issues/2011/06/pdf/race_genetics.pdf

  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 Dissertation

    Google Scholar 

  40. Weaver R, Hedrick P (2005) Heredity. In the world book encyclopedia, vol 9. World Book, Inc., Chicago, pp 200–210

    Google Scholar 

  41. Morning A (2007) “Everyone knows it’s a social construct”: contemporary science and the nature of race. Sociol Focus 40(4):436–454

    Article  Google Scholar 

  42. Brody H, Hunt L (2006) BiDil: assessing a race-based pharmaceutical. Ann Fam Med 4(6):556–560

    Article  PubMed  PubMed Central  Google Scholar 

  43. Callister P, Didham R (2009) Who are we? The human genome project, race and ethnicity. Soc Policy J N Z 36:63–76

    Google Scholar 

  44. Weiner W (2005) Huntington’s disease. In the world book encyclopedia, vol 9. World Book, Inc., Chicago, p 451

    Google Scholar 

  45. Green D (2005) Hemophilia. In the world book encyclopedia, vol 9. World Book, Inc., Chicago, pp 182–183

    Google Scholar 

  46. Matalon R (2005) Tay–Sachs disease. In the world book encyclopedia, vol 19. World Book, Inc., Chicago, p 56

    Google Scholar 

  47. Eckman J (2005) Sickle cell anemia. In the world book encyclopedia, vol 17. World Book, Inc., Chicago, p 448

    Google Scholar 

  48. Luzzatto L (2012) Sickle cell anemia and malaria. Mediterr J Hematol Infect Dis 4(1):e2012065

    Article  PubMed  PubMed Central  Google Scholar 

  49. Ojodu J, Hulihan M, Pope S, Grant A (2014) Incidence of sickle cell trait—United States, 2010. Mortal Morb Wkly Rep 63(49):1155–1158

    Google Scholar 

  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):118–123

    Article  Google Scholar 

  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--1

    Article  Google Scholar 

  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 29:265–269

    Article  CAS  PubMed  Google Scholar 

  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):417–423

    Article  PubMed  Google Scholar 

  54. Zinn H (2005) A people’s history of the United States: 1492-Present. Harper Perennial Modern Classics, New York

    Google Scholar 

  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):8

    Article  PubMed  PubMed Central  Google Scholar 

  56. Foster M, Sharp R (2002) Race, ethnicity, and genomics: social classifications as proxies of biological heterogeneity. Genome Res 12(6):844–850

    Article  CAS  PubMed  Google Scholar 

  57. Slatkin M (2004) A population-genetic test of founder effects and implications for ashkenazi jewish diseases. Am J Hum Genet 75(2):282–293

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  58. Lehrman R (1966) Race, evolution, and mankind. Basic Books Inc., Publishers, New York

    Google Scholar 

  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 Orleans

    Google Scholar 

  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):149–157

    Article  CAS  PubMed  Google Scholar 

  61. Eschbach K, Supple K, Snipp CM (1998) Changes in racial identification and the educational attainment of American Indians, 1970–1990. Demography 35(1):35–43

    Article  CAS  PubMed  Google Scholar 

  62. Hitlin S, Scott Brown J, Elder GH (2006) Racial self-categorization in adolescence: multiracial development and social pathways. Child Dev 77(5):1298–1308

    Article  PubMed  Google Scholar 

  63. Dittmar L (1999) Review of the book race: the history of an idea in America by Thomas F. Gossett. Melus 24(2):186–188

    Article  Google Scholar 

  64. Obasogie OK (2008) Beyond best practices: strict scrutiny as a regulatory model for race-specific medicines. J Law Med Ethics 36(3):491–497

    Article  PubMed  Google Scholar 

  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 Zealand

    Google Scholar 

  66. Roberts D (2011) What’s wrong with race-based medicine?: genes, drugs, and health disparities. Minn J L Sci Technol 12(1):1–21

    Google Scholar 

  67. Cohn JN (1989) U.S. Patent No. 4,868,179. U.S. Patent and Trademark Office, Washington

    Google Scholar 

  68. Cohn JN, Carson P (2002) U.S. Patent No. 6,465,463. U.S. Patent and Trademark Office, Washington

    Google Scholar 

  69. U.S. Food and Drug Administration (2005) FDA approves BiDil heart failure drug for black patients [Press Release]. Retrieved from www.fda.gov

  70. Kahn J (2008) Exploiting race in drug development BiDil's interim model of pharmacogenomics. Soc Stud Sci 38(5):737–758

    Article  PubMed  Google Scholar 

  71. Crockett D (2008) Marketing blackness: how advertisers use race to sell products. J Consum Cult 8(2):245–268

    Article  Google Scholar 

  72. Ghosh S (2007) Race specific patents, commercialization, & intellectual property policy. Buffalo Law Rev 56:409–466

    Google Scholar 

  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):2049–2057

    Article  CAS  PubMed  Google Scholar 

  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 129–148

    Google Scholar 

  75. Kahn J (2003) Getting the numbers right: statistical mischief and racial profiling in heart failure research. Perspect Biol Med 46(4):473–483

    Article  PubMed  Google Scholar 

  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. Rockville

    Google Scholar 

  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):1547–1552

    Article  CAS  PubMed  Google Scholar 

  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):303–310

    Article  CAS  PubMed  Google Scholar 

  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):57–62

    Article  PubMed  Google Scholar 

  80. Genomics and Personalized Medicine Act of 2006 (2006) S. 3822, 109th Cong

    Google Scholar 

  81. Genomics and Personalized Medicine Act of 2010 (2010) H.R. 5440, 111th Cong

    Google Scholar 

  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. Washington

    Google Scholar 

  83. U.S. Food and Drug Administration (2015) Proceedings from optimizing FDA’s regulatory oversight of next generation sequencing diagnostic tests public workshop. FDA, Bethesda

    Google Scholar 

  84. Meier RJ (2012) A critique of race-based and genomic medicine. Coll Antropol 36(1):5–10

    PubMed  CAS  Google Scholar 

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Kelly, S., Pathak, Y. (2018). Race and Ethnicity: Understanding Difference in the Genome Era. In: Pathak, Y. (eds) Genomics-Driven Healthcare. Adis, Singapore. https://doi.org/10.1007/978-981-10-7506-3_5

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