Brief on Genetic Determinism and Race


I.Overview Articles

II. Race as a Continuous Genetic Gradient

III. Implications for Clinical, Genomic, and Genetic Research

IV. Race and Forensics

V. Lay Attitudes

VI. Additional Information

VII. Websites


I. Overview Articles

Alston, T. A. and E. Lowenstein. 2004. Black and white and read all over: The human genome. Critical Care Medicine. 32(4): 1073-1074.

  • The authors provide an overview of the racial categories used by the US Census Bureau and some of the legal aspects of collecting racial data from study participants.  Race is discussed as a predictor of genotype for a 250-base pair deletion that changes the expression of angiotensin-converting enzymes. 

Anderson, N. B. and K. K. Nickerson. 2005. Genes, race, and psychology in the genome era: an introduction. American Psychologist, 60(1): 5-8.

Bamshad, M. and S. E. Olson. 2003. Does race exist? Scientific American.

Bamshad, M.; S.  Wooding; B. A. Salisbury; and J. C. Stephens. 2004. Deconstructing the relationship between genetics and race. Nature Reviews Genetics. 5(8): 598-609.

  • The authors discuss the implications of the use of race as a proxy in genetic studies. The patterns and distribution of human genetic variation are difficult to measure and interpret. However, studies over the past thirty years have shown that there is far greater genetic variation within rather than between populations. All characteristics, including race and ethnicity, are created by an intricate relationship between genetic and environmental factors, and the full picture cannot be understood without both components. While racial and ethnic categories serve as proxies for some essential hereditary and environmental influences, they are incomplete.

Blumenbach, Johann. 1795. On the natural varieties of mankind. Gottingae: Apud Vandenhoek et Rvprecht.

Foster, M. W. and R. R. Sharp. 2002. Race, ethnicity, and genomics: social classifications as proxies of biological heterogeneity. Genome Research.. 12: 844-850.

  • The authors offer two opposing historical perspectives on the relationship between race and genetics and how these influence current concepts of the biological aspects of race.  The first perspective supports the biology of race and stems from the eugenics movement.  The second perspective is based on physical anthropology and insists that race is a social/cultural construct with no biological basis. Inclusion or exclusion of a particular racial or social group in genomic research carries both significant risks and significant benefits.  The ethical issues and considerations surrounding the Human Genome Diversity Project are cited as an example of how complications can arise in this type of research. While social categories such as race cannot be totally ignored, demonstrating the biological validity of such categories is fully the responsibility of the researcher.  Attention to the social and cultural factors influencing racial and ethnic categories thus becomes essential in genomics research, where it has previously been largely ignored.

Galton, Francis.  1904. Eugenics: its definition, scope, and aims. The American Journal Of Sociology, Volume 10(1):

Goodman, A. H. 2000. Why genes don’t count (for racial difference in health). American Journal of Public Health, 90(11): 1699-1702.

  • This article addresses the reasons why race is not an adequate substitute for genetic variation for the purposes of health and biological research.  While genetic techniques used in the past attempted to show a biological basis for race, research since the 1970s has indicated evidence to the contrary. Genetic variation is continuous and discrete genetic distinctions between races do not exist.  More genetic variation is seen within races than among races. Race is not clearly definable in biological terms because it is mostly a social construct; therefore, race cannot be consistently classified because there are not universal standards for measuring race.  Racism (and other social/cultural factors linked to race and ethnicity) influences socioeconomic status which has a profound impact on health and confounds the relationship between race and health. However, race is still largely misconceived as having a biological basis.

Pearce, N.; S. Fliaki; A. Sporle; and C. Cunningham. 2004. Genetics, race, ethnicity, and health. BritishMedicalJournal. 328(7447): 1070-1072.

  • The authors utilize the example of Maori and Pacific peoples to illustrate common misconceptions about genetics, race, and ethnicity. They state that genes are just one component of health; complex interactions between environmental and socioeconomic factors influence biology. Few concrete examples of clear genetic differences between races have been illustrated. Many of these differences in health are actually due to social, cultural, and socioeconomic differences linked to ethnicity and racism rather than genetics.


II. Race as a Continuous Genetic Gradient

Cavalli-Sforza, Luigi L., Paolo Menozzi; and Alberto Piazza. 1994. The history and geography of human genes. Princeton, NJ: Princeton University Press.

Foster, M. W. and R. R. Sharp.  2004. Beyond race: towards a whole-genome perspective on human populations and genetic variation. Nature Reviews Genetics. 5: 790-796.

  • The authors argue that multiple historical sources of genetic variation that captures the whole-genome perspective must be used to interpret genetic findings.  This article explains why existing categories of race should not be used.

Jorde, L. B., and S. P. Wooding. 2004. Genetic variation, classification and race. NatureGenetics Supplement. 36(11): 28-33.

  • The authors state that genetic variation is geographically structured to some extent, because modern racial constructs are partially based on geography, therefore genetics are partially meaningful to race.  However, significant overlap occurs between geographical areas and prevents the delineation of clearly defined biological races. Ancestry can be approximated when large numbers of loci are correctly analyzed.  It is essential to recognize that self-identified race and ethnicity (often used in medical research) are not the same as ancestry. Non-genetic factors exert a strong influence on human behavior and their influence must not be overlooked.

Leroi, A. M. March 14, 2005. A family tree in every gene.  New York Times.  New York Edition.

Lewontin, Richard C. 1982. Human diversity. New York, NY: W.H. Freeman & Company.

Lewontin R. C. The fallacy of racial medicine: confusions about human races. Social Science Research Council. October 4, 2005).

Marshall, E. 1998. Cultural anthropology: DNA studies challenge the meaning of race. Science. 282(5389): 654-655.

  • The author reviews current genomic data on race and suggests that it is difficult to discern specific categories or boundaries between racial groups. This supports the theory that there are not significant genetic differences between racial groups.

Mountain, J. L., and N. Risch. 2004. Assessing genetic contributions to phenotypic differences among racial and ethnic groups. Nature Genetics Supplement, 36(11): S48-S53.

Ritter, M. TheBoston Globe. 2003. DNA Test in LA. Killings is said to have indicated attackers race. June 5.

Serre, D., and S. Pääbo. 2004. Evidence for gradients of human genetic diversity within and among continents. GenomeResearch. 14:  1679-1685.

  • The authors contest recent research that demonstrates the clustering of polymorphisms by continental group and how these are translated into racial clusters.  Homogenous sampling provides evidence of an apparent gradient of allele frequencies rather than distinct groups.

Shriver, M.; E. Parra, S. Dios, C. Bonila, H. Norton, C. Jovel, et al. 2003. Skin pigmentation, biogeographical ancestry and admixture mapping. Human Genetics. 112:  87-399.

Yang, N.; H. Li; L. A. Criswell; P. K. Gregersen; M. E. Alarcon-Riquelme; R. Kittles; R. Shigeta; G. Silva; P. I. Patel; J. W. Belmont; and M. F. Seldin.  2005. Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine.Human Genetics. 118(3-4): 382-392.


III.  Implications for Clinical, Genomic, and Genetic Research

Brinton, L. A., et al. 1997. Ethnicity and variation in breast cancer incidence. International Journal of Cancer. 73(3): 349–355.

Burchard, E. G.; E. Ziv; N. Coyl, et al. 2003. The Importance of race and ethnic background in biomedical research and clinical practice. New England Journal of Medicine.348(12): 1170-1175.

  • The authors argue that racial categories “are useful for exploring hypotheses about environmental and genetic risk factors, as well as interactions between risk factors, for important medical outcomes.” They offer that census data is a useful and easily accessible source of information that includes classification of all people into five major racial groups: African American, white, Asian, native Pacific Islander, and American Indian/Alaskan native. Despite the fact that racial and ethnic categories are continuous and “not biologic in nature,” the correlation between socioeconomic status and race is a solid predictor of factors like access to/quality of care and educational background.  Under some circumstances health disparities can still be seen after access to care and socioeconomic status are adjusted for.  The authors argue that in these instances it is appropriate to investigate whether genetic or non-genetic factors play a role. The authors point to three illustrations of genetic variation among the five major racial groups: 1. Ancestral-tree diagrams created by population geneticists show five branches that roughly correspond with the five major racial groups, 2. Genetic cluster analysis has been successfully used to place people into one of the five major categories, with the exception that South, Central, and West Asians are more genetically similar to Europeans than East Asians, and 3. Micro-satellite and single-nucleotide-polymorphism (SNP) markers have been used to study the occurrence of alleles among racial groups.  These studies have suggested genetic variation between races. The authors state that the benefits of utilizing racial categories outweigh the associated risks because racial proxies aid in the identification of both genetic and non-genetic risk factors for disease.  The authors also suggest that because minorities are already underrepresented in clinical research, it would be impossible to correct this problem with sampling techniques that are completely racially/ethnically blind.

Charmaine D. M.; R. Dunston; and G. M. Dunston. 2004. Changing the paradigm from ‘Race’ to human genome variation. Nature Genetics Supplement. 36(10): 5-7

  • The authors state that molecular research and human genome sequence variation are beginning to show the inadequacy of racial and ethnic labeling in disease research.  A new framework that goes beyond race constructs will need to be utilized to understand biological groupings and genetic variation.  Race is a weak proxy for the genetic and environmental factors that influence disease.

Chu, K. C., et al. 1999. Breast cancer trends of Black women compared with White women. Archives of Family Medicine. 8: 521-528.

Chu, K. C., et al.  2003. Racial disparities in breast carcinoma survival rates. Cancer. 97(11): 2853-2860.

Exner, D. V. et al. 2001. Lesser response to angiotensin-converting-enzyme inhibitor therapy in Black as compared with White patients with left ventricular dysfunction. New England Journal of Medicine. 344(18): 1351–1357.

Dignan, J. J. 2001. Efficacy of systemic adjuvant therapy for breast cancer in African-American and Caucasian women. Journal of the National Cancer InstituteMonographs. 30: 36-43.

Duster, T.  2005. Race and reification in science. Science. 307(5712): 1050-1051.

Freeman, H. P.  1998. The meaning of race in science–considerations for cancer research. Cancer.  82(1): 219-225.

  • The author reviews a brief history of the way in which race has been socially constructed and what this social construction means for scientific research. The conclusions of the chairman’s overview show that there is no biological basis for the existence of race.  Race as a category in the census is socially and politically constructed.

Galst, L. 2001. Does breast cancer discriminate? MAMM. 4(1): 35-41.

Goldstein, D. B. and Sara K. Tate. 2004. Will tomorrow’s medicines work for everyone? Nature Genetics. 36(11): S34-S42.

Henson, D. E., et al. 2003. Histologic grade, stage, and survival in breast carcinoma—comparison of African-American and Caucasian women. Cancer. 98(5): 908-917.

Jha, A. K.; E. S. Fisher; Z. Li; E. J. Orav; and A. M. Epstein. 2005. Racial trends in the use of major procedures among the elderly. The New England Journal of Medicine. 353(7): 683-691.

  • The authors studied the use of nine major surgical procedures among the elderly from the early 1990’s through 2001. Results indicated that the use of these procedures differed significantly between racial groups at the beginning of the time studied and while the use of some of these between groups narrowed significantly over the time studied, the use of others widened or did not change significantly. The authors conclude that efforts to eliminate racial disparities in the use of high cost surgical procedures during that time period were not successful.

Jha, A. K. interview by Terence Smith for National Public Radio, August 18, 2005. transcript,

Jones, B. A.; S. V. Kasl; C. L. Howe; M. Lachman; R. Dubrow; M. M. Curnen; H. Soler-Vila; A. Beeghly; F. Duan; and P. Owens. 2004. African-American/White differences in breast carcinoma: p53 alterations and other tumor characteristics. Cancer. 101(6): 1293-1301.

  • The authors studied a population-based cohort of 322 African American (45%) and White women (55%) who were diagnosed with breast cancer. They found that alterations in the p53 gene were significantly more common in the African-American women compared with the White women.

Karter, A. J.  2003. Race and ethnicity: vital constructs for diabetes research. Diabetes Care. 26(7): 2189-2193.

  • This article discusses the debate between proponents and opponents of the race-neutral approach in the context of diabetes research.

Krieger, N. 2005. Stormy weather: race, gene expression, and the science of health disparities. American Journal of Public Health. 95(12): 2155-2160.

  • The author draws on historical and contemporary examples to argue against the use of racial categories as proxies in public health estimates.

Marks, J. 2005. New information, enduring questions: race, genetics, and medicine in the 21st century. GeneWatch. 18(4): 11-16.

Newman, L. A., et al. 2002. African-American ethnicity, socioeconomic status, and breast cancer survival. Cancer. 94(11): 2844-2854.

Pace, D. Associated Press. 2005. More Blacks live with pollution. December 13.

Polite, B. N., and O. I. Olopade. 2005. Breast cancer and race. Perspectives in Biology and  Medicine. 48 (1): S166-S175.

Rathore, S. S., and H. M. Krumholz. 2003. Race, ethnic group, and clinical research. British Medical Journal. 327: 763-764.

  • The authors of this paper suggest that considering participants’ race when enrolling them in randomized trials or clinical research has implications that need to be considered when interpreting results.

Sankar, P.; M. K. Cho; C. M. Condit; et al. 2004. Genetic research and health disparities. Journal of the American Medical Association. 291(24): 2985-2989.

  • The authors suggest that factors contributing to health disparities can be masked when genetics are overemphasized as a cause.  This is particularly true when race labeling is involved, because emphasis on racial identity in medicine can lead to racial stereotyping (which has been shown to be a significant factor in health disparities) even when racial classification is meant to help diagnose and treat a patient more effectively. Although health disparities in the United States for diseases such as hypertension and diabetes occur more frequently in some races than in others, this is not true in other countries.  When health disparities are examined globally it becomes clear that poverty is a better predictor of poor health than race or ethnicity. The authors assert that scientists and journalists have been overly confident in their assertions that genetic research alone will yield promising new therapies.  More often research has shown that complex gene-gene and gene-environment interactions will take decades to understand fully.

Sankar, P. and J. Kahn. 2005. BiDil: race medicine or race marketing? Health Affairs (E-Published: October 11, 2005).

Schwartz, R. S.  2001. Racial profiling in medical research. The New England Journal of Medicine. 344(18):

Shields, A.; M. Fortun; E. Hammonds; P. King; C. Lerman; R. Rapp; and P. Sullivan. 2005. The use of race variables in genetic studies of complex traits and the goal of reducing health disparities: a trans-disciplinary perspective. American Psychologist. 60(1): 77-103.

Tammemagi, C. M., et al.  2005. Comorbidity and survival disparities among Black and White patients with breast cancer. Journal of the American Medical Association. 14: 1765-1772.


IV. Race and Forensics

Duster, T. 2004. Selective arrests, an ever-expanding DNA forensic database, and the specter of an early-twenty-first century equivalent of phrenology. In DNA and the criminal justice system: the technology of justice, edited by D. Lazer, 315-334. Cambridge: Massachusetts Institute of Technology.

M’charek, A. 2000. Technologies of population: forensic DNA testing practices and the making of differences and similarities. Configurations. 8(1): 121-158.

Stevens, A. P. 2001. Arresting crime: expanding the scope of DNA databases in America. Texas Law Review. 24: March.

Puri, A. M. 2001. An international DNA database: balancing hope, privacy, and scientific error. Boston College International and ComparativeLaw Review. 24:


V.  Lay Attitudes

Condit, C. M.; R. L. Parrott; B. R. Bates; J. L. Bevan; and P. J. Achter. 2004. Exploration of the impact of messages about genes and race on lay attitudes. Clinical Genetics. 66: 402-408.

  • A study was conducted to determine whether or not news articles and other public health messages that link genes to race and health increase racism.  The researchers created public service announcements about new research involving race, genes and heart disease.  The messages specified the use of “Whites” or “Blacks” as subjects, or contained no racial specification. Study participants listened to the messages and answered a series of questions intended to evaluate their level of racism and genetic discrimination. Greater levels of racial and genetic discrimination were seen in the groups that heard the messages specifying “Whites,” or “Blacks.” The authors recommend against the use of this type of terminology until further research in this area is completed.

Condit, C. and B. Bates. 2005. How lay people respond to messages about genetics, health and race. Clinical Genetics. 68: 97-105.

  • A mini-review of genetic medicine moving towards a model based on race.  Studies have been conducted to look at how messages that link race to genes and health may impact health disparities by increasing racism and genetically based racism.  As the current literature seems to be fragmented due to methodological and measurement issues the article suggests ideas for additional research that could be done.

Harmon, A. The New York Times. 2005. Blacks pin hope on DNA to fill slavery’s gaps in family trees. July 25.

Harmon, A. The New York Times. 2006. Seeking ancestry in DNA ties uncovered by tests. April 12.

Kalb, C. Newsweek. 2006.  In our blood. February 6.  47-55.

Krugman, P. The New York Times. 2005. Race is the biggest reason America treats its poor more harshly than any other advanced country, September 19.

Shriver, M., and R. Kittles. 2004. Genetic ancestry and the search for personalized genetic histories. Nature. 5: 611- 618.


VI.  Additional Information

Alper, J. S. and J.  Beckwith. 1999. Racism: a central problem for the human genome diversity project. Politics Life Sciences. 18(2): 285-288.

Bamshad, M. J.  and S. E. Olson. 2003. Does race exist? Scientific American. 289(6): 78-85.

Bonham, V. L.; E. Warshauer-Baker; and F. S. Collins. 2005. Race and ethnicity in the genome era: the complexity of the constructs.  American Psychologist. 60(1): 9-15.

Byrd, W. M. 1990. Race, biology, and health care: reassessing a relationship. Journal of Health Care of the Poor and Underserved. 1(3): 278-96.

Guterl, M. P. 1999. The new race consciousness: race, nation, and empire in American culture, 1910-1925. Journal of World History. 10(2): 307-52.

Hubbard, Ruth and Elijah Wald. 1999. Exploding the Gene Myth. Boston, MA: Beacon Press.

Kittles, R. A., and K. M. Weiss. 2003. Race, ancestry, and genes: implications for defining disease risk. Annual Review of Genomics and Human Genetics. 4:  33-67.

Marks, Jonathan. 1995. Human Biodiversity: Genes, Race, and History. New York: Aldine de Gruyter.

Montagu, M. F. A. 1941. The concept of race in the human species in light of genetics. Journal of Heredity. 32:  243-247.

Montagu, M. F. A. 1942. Man's Most Dangerous Myth: The Fallacy of Race. New York, NY: Columbia University Press.

Ossorio, P. and T. Duster. 2005. Race and genetics: controversies in biomedical, behavioral, and forensic sciences. American Psychologist. 60(1): 115-128.

Reardon, Jenny. 2005. Race to the finish: Identity and governance in an age of genomics. Princeton, NJ: Princeton University Press.

Risch, N.; E. Burchard; E. Ziv; et al. 2002. Categorization of humans in biomedical research: genes, race and disease. GenomeBiology. 1(7):

Rushton, J.  P.  1996. Race, genetics, and human reproductive strategies. Genetic, Social, and General Psychology Monograms. 122(1): 21-53.

Rushton, J. P.  1997. Race, evolution, and behavior: a life history perspective. New Brunswick, NJ: Transaction Publishers.

Sankar, P. and S. Paabo. 2002. Genetics: towards a new vocabulary of human genetic variation. Science. 298(5597): 1337-1338.

Sternberg, R. J.; E. L. Grigorenko; and K. K. Kidd. 2005. Intelligence, race, and genetics. AmericanPsychologist. 60(1): 46-59.

Walderston, J. 1990. Disease, race, geography, and genes. Journal of Internal Medicine. 228(5): 419-124.

Wang, V. O. and S. Sue. 2005. In the eye of the storm: race and genomics in research and practice. American Psychologist. 60(1): 37-45.

Weiss, R. The Washington Post.  2005. Scientists find a DNA change that accounts for White skin. December 16.

Wright, L. TheNew Yorker. 1994. One drop of blood. July 24. 46-55.


VII. Websites

Race – The Power of an Illusion / PBS

Ancestry by DNA

African Ancestry

Family Tree DNA

Is Race Real? / Social Science Research Council

National Geographic’s Genographic Project

Human Genome Project Information

International HapMap Project

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