About face: Forensic genetic testing for race and visible traits

Journal of Law, Medicine and Ethics

Volumn 34, Issue 2, 2006, Pages 277-292

  Ossorio, Pilar N ^a,b  

^a UNIVERSITY OF WISCONSIN   (United States)

^b Center for the Study of Cultural Diversity in Health Care

Author keywords

[No Author keywords available]

Indexed keywords

CONFERENCE PAPER; DNA FINGERPRINTING; ETHICS; GENETIC PRIVACY; GENETIC VARIABILITY; GENETICS; HUMAN; LEGAL ASPECT; MULTIFACTORIAL INHERITANCE; POLICY; QUANTITATIVE TRAIT; RACE;

CONTINENTAL POPULATION GROUPS; DNA FINGERPRINTING; GENETIC PRIVACY; HUMANS; MULTIFACTORIAL INHERITANCE; PUBLIC POLICY; QUANTITATIVE TRAIT, HERITABLE; VARIATION (GENETICS);

EID: 33745294105     PISSN: 10731105     EISSN: 1748720X     Source Type: Journal    
DOI: 10.1111/j.1748-720X.2006.00033.x     Document Type: Conference Paper

References (121)

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20. A. Smedley and B. D. Smedley Race as Biology is Fiction, Racism as a Social Problem is Real American Psychologist 60, no. 1 ( 2005 16 25 P. Ossorio and T. Duster, supra note 18; S. B. Haga and J. C. Venter, supra note 28.
21. Z. Gaskin, supra note 1.
22. D. L. Faigman, supra note 4.
23. Because genes encode traits, most trait genetic testing involves analyzing genes. In contrast, non-coding regions are analyzed for thirteen-STR testing.
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26. Y. Hong, et al., supra note 25, at 1036.
27. A. Smedley and B. D. Smedley Race as Biology Is Fiction supra note 20
28. J. Marks, What It Means to Be 98% Chimpanzee ( Berkeley, Los Angeles : University of California Press, 2002).
29. M. Banton The Idea of Race in L. Back J. Solomon, eds., Theories of Race and Racism ( New York : Routledge, 2000 51-63; T. Holt, Problem of Race in the Twenty-First Century (Cambridge, MA: Harvard University Press, 2000).
30. J. Marks, supra note 27 S. Molnar, Human Variation: Races, Types and Ethnic Groups, 4th ed Upper Saddle River : Prentice Hall, Inc., 1998).
31. This argument is not logically valid, because conclusion (3a) is ambiguous and does not follow from premises 1 and 2. A trait may be encoded by a single gene, such that possessing a particular allele of that gene leads to a particular version of the trait, yet more than one allele, or more than one gene, may encode that trait. For instance, suppose allele A of the hypothetical Hair Color gene is a dominant allele, and that anybody who possesses a single copy of allele A will have black hair. It could still be the case that other alleles of the HairColor gene, or alleles of genes other than HairColor, encode black hair. In such situations, knowing that a person possesses allele A would allow an observer to predict that the person would have naturally black hair, but knowing that the person has naturally black hair would not allow the observer to infer that the person possesses allele A. Even when a gene strongly determines a trait, two people may possess the same trait yet not possess the same alleles encoding that trait.
32. For a contemporary example of the contingency and malleability of race see, D. Chapelle, Racial Draft, The Chapelle Show ( 2003 available on DVD (representatives of various races hold a draft, analogous to the National Basketball Association draft, in which each race selects and trades racially ambiguous celebrities).
33. N. J. Sauer Forensic Anthropology and the Concept of Race supra note 19 M. Omi and H. Winant, Racial Formation in the United States, 2nd ed New York, London : Routledge, 1994 A. Smedley, Race in North America: Origin and Evolution of a Worldview, 2nd ed. (Boulder, CO: Westview Press, 1999); S. Lee, J. L. Mountain and B. A. Koenig, "The Meanings of 'Race' in the New Genomics: Implications for Health Disparities Research," Yale Journal of Health Policy, Law, and Ethics 12 (2001): 33-75; I. H. Lopez, "The Social Construction of Race: Some Observations on Illusion, Fabrication, and Choice," Harvard Civil Rights-Civil Liberties Law Review 29 (1994): 1-62; I. H. Lopez, White by Law (New York and London: New York University Press, 1996); ASA Statement on Race in Research, supra note 25.
34. ASA Statement on Race in Research, supra note 25 V. O. Wang and S. Sue In the Eye of the Storm: Race and Genomics in Research and Practice American Psychologist 60, no. 1 ( 2005 37 45.
35. Genetic variation is only one form of biological variation. Many kinds of biological variation are neither determined by nor reducible to genetic variation. Some biological variation may correlate with race yet not be caused by genetic variation. Many health disparities probably fall into this category.
36. F. S. Collins, et al. A Vision for the Future of Genomics Research Nature 422 ( 2003 835 847.
37. L. B. Jorde and S. P. Wooding Genetic Variation, Classification and 'Race' Nature Genetics Supplement 36, no. 1 ( 2004 S28 33 J. Marks, supra note 27; R. A. Kittles and K. M. Weiss, supra note 11.
38. L. B. Jorde J. C. Carey and R. L. White, Medical Genetics ( St. Louis : Mosby, 1995 V. L. Bonham, E. Warshauer-Baker and F. S. Collins, supra note 11.
39. J. Marks, supra note 27 S. Olson, Mapping Human History: Discovering the Past Through Our Genes ( New York : Houghton Mifflin Co., 2002 R. A. Kittles and K. M. Weiss, "Race, Ancestry, and Genes," supra note 11; L. B. Jorde, M. Bamshad and A. R. Rogers, "Using Mitochondrial and Nuclear DNA Markers to Reconstruct Human Evolution," Bio Essays 20, no. 2 (1998): 126-136.
40. H. C. Harpending, et al. Genetic Traces of Ancient Demography Proceedings of the National Academy of Sciences 95 ( 1998 1961 1967 L. B. Jorde, et al., "Microsatellite Diversity and the Demographic History of Modern Humans," Proceedings of the National Academy of Sciences 94 (1997): 3100-3103; L. B. Jorde, M. Bamshad and A. R. Rogers, "Reconstruct Human Evolution," supra note 38; S. A. Tishkoff and B. C. Verrelli, "Patterns of Human Genetic Diversity: Implications for Human Evolutionary History and Disease," Annual Review of Genomics and Human Genetics 4 (2003): 293-340; J. H. Relethford, "Genetics of Modern Human Origins and Diversity," Annual Review of Anthropology 27 (1998) : 1 23.
41. A. R. Templeton Human Races: A Genetic and Evolutionary Perspective American Anthropologist 100 ( 1999 632 650 J. Marks, 98% Chimpanzee, supra note 27; D. L. Rhode, S. Olson and J. T. Chang, "Modelling the Recent Common Ancestry of All Living Humans," Nature 431 (2004): 562-566, at 565. ("No large group is known to have maintained complete reproductive isolation for extended periods. The populations on either side of the Bering Strait appear to have exchanged mates throughout the period documented in the archeological record.").
42. D. L. Rhode S. Olson and J. T. Chang, supra note 40, at 565. Of course, people alive today have received markedly different proportions of DNA from that common ancestor.
43. F. S. Collins, et al. A Vision for the Future," supra note 35; The International HapMap Consortium The International Hap-map," supra note 7 M. W. Foster and R. R. Sharp, "Race, Ethnicity, and Genomics: Social Classifications as Proxies of Biological Heterogeneity," Genome Research 12 (2002): 844-850, at 845. ("Ironically, the sequencing of the human genome has instead renewed and strengthened interest in biological differences between racial and ethnic populations...").
44. V. L. Bonham E. Warshauer-Baker and F. S. Collins, supra note 11, at 12.
45. A. Caspi, et al. Role of Genotype in the Cycle of Violence in Maltreated Children Science 297, no. 5582 ( 2002 851 854 J. Fullerton, et al., "Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative-Trait Loci that Influence Variation in the Human Personality Trait Neuroticism," American Journal of Human Genetics 72 (2003): 879-890; F. S. Collins, et al., supra note 35.
46. L. B. Jorde and S. P. Wooding, supra note 36 R. A. Kittles and K. M. Weiss, supra note 11.
47. L. B. Jorde and S. P. Wooding, supra note 36, at S28.
48. A. R. Templeton, supra note 40.
49. V. L. Bonham E. Warshauer-Baker and F. S. Collins, supra note 11.
50. L. B. Jorde and S. P. Wooding, supra note 36, at S28.
51. D. Serre and S. Paabo Evidence for Gradients of Human Genetic Diversity within and among Continents Genome Research 14 ( 2004 1679 1685 J. Marks, supra note 27; S. Molnar, Human Variation, supra note 29; S. Olson, supra note 38.
52. S. A. Tishkoff and S. M. Williams Genetic Analysis of African Populations: Human Evolution and Complex Disease Nature Reviews Genetics 3 ( 2002 611 621 L. B. Jorde and S. P. Wooding, supra note 36, at S29; J. Marks, supra note 27, at 81-85; M. D. Shriver, et al., supra note 8; S. Olson, supra note 38, at 66-69.
53. S. A. Tishkoff and S. M. Williams, supra note 51 D. E. Reich, et al., supra note 7.
54. V. L. Bonham E. Warshauer-Baker and F. S. Collins, supra note 11, at 12.
55. J. Marks, supra note 27.
56. L. L. Cavalli-Sforza and M. W. Feldman The Application of Molecular Genetic Approaches to the Study of Human Evolution Nature Genetics Supplement 33 ( 2003 266 275.
57. S. Loader, et al. Cystic Fibrosis Carrier Population Screening in the Primary Care Setting American Journal of Human Genetics 59 ( 1996 234 247.
58. E. A. Sausville and M. A. Carducci Making Bad Cells Go Good: The Promise of Epigenetic Therapy Journal of Clinical Oncology 23, no. 17 ( 2005 3875 3876 T. Ushijima, "Detection and Interpretation of Altered Methylation Patterns in Cancer Cells," Nature Reviews Cancer 5, no. 3 (2005): 223-231; S. Kimmins and P. Sassone-Corsi, "Chromatin Remodeling and Epigenetic Features of Germ Cells," Nature 434, no. 7033 (2005) : 583 589.
59. R. Sinden Biological Implications of the DNA Structures Associated With Disease-Causing Triplet Repeats American Journal of Human Genetics 64 ( 1999 346 353.
60. For a thoughtful discussion of the complexity of quantifying genetic similarity and difference see J. Marks, supra note 27, at chapter 2.
61. C. Abraham, supra note 14 N. Wade, supra note 14.
62. This activity may be referred to as "determining one's biogeographical ancestry." See, e.g., DNAPrint Genomics, Ancestry by DNA, DNAPrint Genomics, vailable at http://www.ancestry-bydna.com/ ( last visited March 3, 2006).
63. L. B. Jorde J. C. Carey and R. L. White, supra note 37, at 28.
64. I. H. Lopez, supra note 32, at 27 G. H. Williams, Life on the Color Line: The True Story of a White Boy Who Discovered He Was Black ( New York : Penguin Group, 1995).
65. The term "marker" refers to any position in the genome at which scientists can detect a genetic difference among people.
66. M. Bamshad, et al., supra note 11 I. W. Evett, et al., supra note 19; L. B. Jorde and S. P. Wooding, supra note 36; N. A. Rosenberg, et al., supra note 7; DNAPrint Genomics, supra note 61.
67. M. X. Tang, et al. The Apoe-E4 Allele and the Risk of Alzheimer Disease among African Americans, Whites and Hispanics JAMA 279, no. 10 ( 1998 751 755 N. A. Rosenberg, et al., supra note 7.
68. N. Wade Articles Highlight Different Views on Genetic Basis of Race The New York Times, national edition, October 27, 2004, at A18 E. G. Burchard, et al., supra note 18; N. Wade, supra note 14.
69. N. A. Rosenberg, et al., supra note 7 D. Serre and S. Paabo, supra note 50.
70. J. Gulcher A. Helgason and K. Stefansson Genetic Homogeneity of Icelanders Nature Genetics 26 ( 2000 365 cf., E. Arnason, H. Sigurgislason and E. Benedikz, "Genetic Homogeneity of Icelanders: Fact or Fiction," Nature Genetics 25 (2000) : 373 374.
71. A. Helgason, et al. An Icelandic Example of the Impact of Population Structure on Association Studies Nature Genetics 37 ( 2005 90 95, at 93; see also, H. Tang, T. Quertermous, et al., "Genetic Structure, Self-Identified Race/Ethnicity, and Confounding in Case-Control Association Studies," American Journal of Human Genetics 76 (2004): 268-275, at 273 (reporting that self-identified Hispanic subjects in their sample could be grouped together in one cluster, but that "one prior study of Hispanics did not suggest a distinct cluster for this group, possibly because of the heterogeneous origins of that Hispanic sample. From the genetic perspective, Hispanics generally represent a differential mixture of European, Native American and African ancestry...").
72. L. B. Jorde J. C. Carey and R. L. White, supra note 37, at 83-101 L. Gerard, N. Gerard and G. Mercier, "North African Genes in Iberia Studied by Y-Chromosome DNA Haplotype V," Human Immunology 62 (2001) : 885 888.
73. S. Olson Mapping Human History supra note 38.
74. H. C. Harpending, et al., 'Genetic Traces," supra note 39 L. B. Jorde M. Bamshad and A. R. Rogers, supra note 38 V. Macaulay, et al., "The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control Region Sequences and RFLPs," American Journal of Human Genetics 64 (1999) : 232 249.
75. A. Salas A. Carrecedo, et al. Charting the Ancestry of African Americans American Journal Human Genetics 77 ( 2005 676 680 ( concluding that mtDNA variants cannot be used to trace one's African ancestry to particular tribes or to particular localities within West Africa, and stating that "Considerable caution is therefore warranted when dealing with claims in the popular media... and those made by genetic ancestry testing companies about their ability to trace the ancestry of certain American - or, for that matter, European - mtDNAs to a particular locale or population within modern-day Africa. Our analyses stand as a warning to unsuspecting members of the public who may be seduced by such promises," at 679).
76. S. Olson, supra note 38.
77. Autosomes are the chromosomes that do not determine sex, in contrast to the sex-determining chromosomes X and Y.
78. See, Ancestry by DNA webpage, at http://www.ancestrybydna.com/welcome/ productsandservices/AncestryByDNA/cas-estudies/family.html ( last visited March 7, 2006). Child 1 is assigned 37% European ancestry, 15% African ancestry, and 38% American Indian ancestry; Child 2 is assigned 60% European ancestry, 2% African ancestry, and 38% American Indian ancestry; Child 3's ancestral proportions fall between the those of the other two children.
79. L. B. Jorde and S. P. Wooding, supra note 36 M. Bamshad, et al., supra note 11 D. Serre and S. Paabo, supra note 50.
80. D. Serre and S. Paabo, supra note 50.
81. D. L. Rhode S. Olson and J. T. Chang, supra note 40, at 565.
82. DNAPrint Genomics, supra note 61.
83. This claim should be qualified. In some research, some of the markers used might be within a disease-associated gene, but because of the manner in which the markers are chosen and the research is conducted, the researchers would not know that one of their markers was in a "disease gene If commercial ancestry testing firms are using any known disease-associated markers in their analyses, they have not disclosed this information.
84. J. L. Bobadilla, et al. Cystic Fibrosis: A Worldwide Analysis of CFTRMutations - Correlation with Incidence Data and Application to Screening Human Mutation 19, no. 6 ( 2002 575 606.
85. This allele probably arose two separate times in human history, once when a mutation occurred in a Northern Italian person and another time when the same mutation occurred in a Zuni ancestor. J. L. Bobadilla, et al., supra note 83.
86. C. Abraham, supra note 14.
87. F. C. Parra R. C. Amado, et al. Color and Genomic Ancestry in Brazilians Proceedings of the National Academy of Sciences 100, no. 1 ( 2003 177 182.
88. F. C. Parra, et al., supra note 86. Another way of saying this is that, due to the randomness of inheritance, one could have inherited the markers used to trace ancestry and the alleles that encode visible traits from different ancestors.
89. R. L. Lamason M. A. Mohideen, et al. SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans Science 310 ( 2005 1782 1786, at 1786, figure 6.
90. DNAPrint Genomics, supra note 61.
91. Hispanic/Latina identity has been quite contested throughout US history and remains so today. Although the U.S. government considers Hispanic an ethnicity, and therefore views it as possible for a person to be Hispanic and a member of any race, many Hispanics designate their race as other on the census, perhaps because they do not experience themselves as belonging to one of the "big four" races, see I. H. Lopez Race on the 2010 Census : Hispanics and the shrinking White Majority Daedalus 134 ( 2005 42 52 noting that in 1990, 97.5% of the people choosing other "race" on the census form also checked Hispanic ethnicity, p. 45). In much of the biomedical and genetics literature, the term Hispanic is treated as a race insofar as being Hispanic is viewed as mutually exclusive with being white, American Indian, or African American. Here, I use Hispanic as an ethnicity, and choose the relatively common representation of a white Hispanic person and a non-Hispanic Native American person. My use of this example should not be seen as an endorsement of any particular conception or usage of the term Hispanic.
92. G. S. Barsh, supra note 8 R. A. Strum, N. F. Box and M. Ramsay, "Human Pigmentation Genetics: The Difference is Only Skin Deep," BioEssays 20 (1998): 712-721; K. Y. Roh, et al., supra note 8.
93. R. A. Strum N. F. Box and M. Ramsay, supra note 91, at 720 ( 1998). Normal variation in human skin color involves mixtures of at least two pigment types-red-yellow pheomelanin and black-brown eumelanin (G. S. Barsh, supra note 8, at 19). People with carrot-red hair, fair skin and freckles make large quantities of pheomelanin and small quantities of eumelanin relative to people with other phenotypes. In populations where red hair and fair skin are common, such as people of English or Irish ancestry, this "carrot-top" phenotype can be caused by a loss-of-function mutation in the melanocortin 1 receptor gene (MC1R). Certain combinations of rare MC1Rvariants may also cause blonde hair. However, red and blonde hair phenotypes also can be caused by genes other than MC1R. Furthermore, variation in the MC1R gene plays little role in average skin color variation between racial groups. Id. Diet, sun exposure, gender, age and other as yet unknown determinants also play some role, K. Y. Roh, et al., supra note 8.
94. R. L. Lamason, et al. SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans Science 310 ( 2005 1782 1786.
95. R. L. Lamason, et al., supra note 93.
96. R. L. Lamason, et al., supra note 93, at 1786 (see figure 6, at least three subjects are indicated as being of 100% African ancestry and homozygous for the recent SLC24A5 allele).
97. But See C. Abraham, supra note 14, reporting that DNAPrint Genomics is working on a technology that could translate a genotype into a "crude sketch of a suspect.".
98. M. K. Cho and P. Sankar, supra note 19.
99. B. Scheck P. Neufeld and J. Dwyer, supra note 3, at chapter 3.
100. The Future of Forensic DNA Testing, supra note 4 D. Kaye and M. E. Smith DNA Identification Databases: Legality, Legitimacy, and the Case for Population-Wide Coverage Wisconsin Law Review ( 2003 413 459 F. S. Collins, et al., "A Vision for the Future," supra note 35, at 289, noting that when the Human Genome Project began, the cost of obtaining high-quality DNA sequence information was approximately $10 per nucleotide; but by 2003, when a comprehensive reference human genome sequence had been completed, the cost was less than ten cents per nucleotide and continuing to drop.
101. See E.G. D. A. Harris The Statistics and the Law: Why 'Driving While Black' Matters Minnesota Law Review, 84, no. 265 ( 1999 265 326 S. Taylor, "Racial Profiling: The Liberals are Right," National Journal, April 24, 1999, reproduced at (last visited March 08, 2006); P. N. Ossorio and T. Duster, "Race and Genetics: Controversies," supra note 18, at 122-126. Plenty of scholars would contest the claim that police treatment of minorities is biased. For an interesting challenge to claims of unjust racial profiling in stops and searches, see N. Perisco and D. Castleman, "Detecting Bias: Using Statistical Evidence to Establish Intentional Discrimination in Racial Profiling Cases," The University of Chicago Legal Forum (2005): 1-19; and J. Knowles, N. Persico and P. Todd, "Racial Bias in Motor Vehicle Searches: Theory and Evidence," Journal of Political Economy 109, no. 1 (2001) : 203 229.
102. D. Kaye and M.E. Smith, supra note 99, at 10 P. Ossorio and T. Duster, supra note 18, at 123 124.
103. This argument assumes that racially pernicious stereotypes are not built into the forensic genetic tests.
104. For instance, if it could be shown that trait genetic testing improved the apprehension rate for perpetrators of crimes in minority communities, then minority communities with disproportionately high crime rates might benefit. This benefit would only occur, however, if police divisions or departments that served minority communities possessed the resources to obtain proper training in sample collection and preparation, and to pay for genetic tests.
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107. Id.
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