- Open letter
The ethics of characterizing difference: guiding principles on using racial categories in human genetics
Genome Biology volume 9, Article number: 404 (2008)
We are a multidisciplinary group of Stanford faculty who propose ten principles to guide the use of racial and ethnic categories when characterizing group differences in research into human genetic variation.
Since the completion of the Human Genome Project, research focused on human genetic variation, including differences among groups, has intensified. This focus has rekindled debates about the connection between genetic (DNA-level) traits and human 'racial' difference [1–5]. Scholars are divided on the question of whether racial categorization is an appropriate means of organizing potentially useful genetic data or a pernicious reification of historically destructive typologies [6, 7]. To explore these issues, faculty from the humanities, social sciences, life sciences, law and medicine at Stanford University convened over the past few years to engage in an extended interdisciplinary dialog. The initial meeting consisted of a two-day workshop in 2003 that developed into an ongoing faculty research seminar sponsored by the Stanford Humanities Center, Affymetrix Corporation, the Mellon Foundation and the Research Institute of the Center for Comparative Studies on Race and Ethnicity. This seminar series, which continued for two years and culminated in a public conference, included invited experts and led to the publication of a collection of essays .
Our goal was to generate principles to guide the use of race and ethnicity categories in research in human genetic variation. Central questions included the following: Can we find areas of common ground? Do we agree about the implications and interpretation of emerging genetic data? Under what conditions might genetic data transform social understandings of racial and ethnic categories, possibly enhancing racist ideologies? From this discussion, we have endorsed ten statements discussed below. Although not an exhaustive consideration of the broad range of issues that deserve attention, this article is intended to promote interdisciplinary dialog on these important concerns and to encourage responsible practices.
Statement 1: We believe that there is no scientific basis for any claim that the pattern of human genetic variation supports hierarchically organized categories of race and ethnicity
The equality of rights of all human beings is an unquestionable, moral claim that cannot be challenged by descriptive, scientific findings [9–11]. As a normative commitment, equality is fundamental to our conception of human rights, and is not open to debate. Classification by racial and ethnic categories has, at particular moments in history, been used to further racist ideology . In view of concerns that linking of emerging genetic data and race/ethnicity categories may promote racist ideologies, we emphasize that there is no scientific basis for any claim that the pattern of human genetic variation supports hierarchically ranked categories of race or ethnicity. Furthermore, we abhor any use of genetic data to reinforce the idea of between-group difference in order to benefit one group to the detriment of another.
Statement 2: We recognize that individuals of two different geographically defined human populations are more likely to differ at any given site in the genome than are two individuals of the same geographically defined population
Research in human genetics has highlighted that there is more genetic variation within than between human groups, where those groups are defined in terms of linguistic, geographic, and cultural boundaries [3, 5, 13, 14]. Patterns of variation, however, are far from random. We recognize that human population history, including major migrations from one continent to another as well as more short-range movements, has led to correlation between genetic variation and geographic distribution [14–17]. This finding is particularly true of indigenous peoples; populations characterized by a high degree of interaction with neighboring groups adhere less to these patterns.
Statement 3: We urge those who use genetic information to reconstruct an individual's geographic ancestry to present results within the broader context of an individual's overall ancestry
An individual's 'geographic ancestry' or 'biogeographical ancestry' can be taken to mean the sum of all the geographic locations inhabited by an individual's biological ancestors. Often, however, genetic data reflect just a small subset of these ancestors. For example, knowing a person's Y-chromosomal lineage is at best a partial view of an individual's ancestry. We note also that in some cases individuals' or groups' self-identification differs from their biogeographic ancestry, depending on a range of historical, cultural and sociopolitical factors. We see value in recognizing both biogeographical and cultural ancestry that underlies an individual's and group's identity, particularly in the context of addressing health disparities.
Statement 4: We recognize that racial and ethnic categories are created and maintained within sociopolitical contexts and have shifted in meaning over time
Human genetic variation within continents is, for the most part, geographically continuous and clinal, particularly in regions of the world that have not received many immigrants in recent centuries . Genetic data cannot reveal an individual's full geographic ancestry precisely, although emerging research has been used to identify geographic ancestry at the continental and subcontinental levels [3, 19]. Genetic clusters, however, are far from being equivalent to sociopolitical racial or ethnic categories. Diverse populations identified as 'Hispanic', for example, are heterogeneous and have distinct ancestries and social histories . We recognize that social experiences and conditions inform racial identity, making such identity a poor proxy for genetic ancestry.
Statement 5: We caution against making the naive leap to a genetic explanation for group differences in complex traits, especially for human behavioral traits such as IQ scores, tendency towards violence, and degree of athleticism
Among the most pervasive and pernicious claims of genetically determined traits are theories on the racial ordering of intelligence [21, 22]. Despite the weak scientific basis for such ordering, the consistent return to the rhetoric of racial hierarchies of IQ reflects the powerful role that science has historically played in promoting racist ideologies . Current evidence suggests that for most complex behavioral traits, contribution of any one gene to normal variation is small and these traits may be more fully explained by variation in environmental factors.
We therefore caution against making the naive leap to a genetic explanation for group differences in a complex behavioral trait, where environmental and social factors clearly can and do play major roles [24, 25].
Statement 6: We encourage all researchers who use racial or ethnic categories to describe how individual samples are assigned category labels, to explain why samples with such labels were included in the study, and to state whether the racial or ethnic categories are research variables
A first step towards preventing the use of science for racial stereotyping is careful consideration of the use of racial and ethnic categories in the initial design of research. Researchers can assess the purpose and impact of using racial and ethnic categories in their research and investigate whether alternative approaches would be appropriate. The editorial boards of several flagship scientific journals have issued publication guidelines to their authors on the use of 'race' in reporting research findings [26, 27].
Statement 7: We discourage the use of race as a proxy for biological similarity and support efforts to minimize the use of the categories of race and ethnicity in clinical medicine, maintaining focus on the individual rather than the group
Although a broad range of associations between genetic markers and human traits - including diseases - is emerging, any accompanying correspondence with race or ethnicity is statistical.
Although certain relatively rare genetic diseases, such as Tay-Sachs, are found in higher frequencies in some human populations, the result of population bottlenecks or environmental pressure, these diseases are also found in other populations. Overemphasizing the genetic contribution to complex human disease or behavioral traits can promote not only racism, but also a naive genetic essentialism - the notion that genes determine health status or behavior [28–30]. Such essentialism is particularly dangerous in clinical translation, where a focus should be maintained on the individual rather than the group .
Statement 8: We encourage the funding of interdisciplinary study of human genetic variation that includes a broad range of experts in the social sciences, humanities and natural sciences
Common human behaviors and diseases result from the interaction of genetic, cultural, linguistic, economic, social and behavioral factors; genetic differences underlying behavioral or health status differences between groups are especially difficult to identify . Medical research is most likely to be successful when genetic studies proceed in tandem with studies of environmental and behavioral factors that include geneticists, epidemiologists and social scientists as members of the research team.
Statement 9: We urge researchers, those working in media, and others engaged in the translation of research results to collaborate on efforts to avoid overstatement of the contribution of genetic variation to phenotypic variation
Scientific data are often quickly politicized and incorporated into specific policy agendas without extensive explanation of the scientific research and its details [33–35]. Often lost in the announcement of scientific findings is discussion of the limitations of the research. Our hope is that scientific data about human genetic variation might undermine spurious popular beliefs about the existence of biologically distinct human races and beliefs that support racist ideologies.
Statement 10: We recommend that the teaching of genetics include historical and social scientific information on past uses of science to promote racism as well as the potential impact of future policies; we encourage increased funding for the development of such teaching materials and programs for secondary and undergraduate education
Education is critical in providing both the foundation - basic scientific literacy - and the historical context through which to understand human genetic variation as data from studies are released. We believe that expanded public education at all levels will enhance understanding of human genetic variation and interpretation of any correspondence with categories of race and ethnicity. We recommend that the teaching of genetics include what we recognize today as past uses of science in promoting racism. Finally, we encourage increased funding for the development of such teaching materials and educational programs that focus on the social impact of scientific discoveries as well as the impact of social values and beliefs on the conduct of science.
The 'gene' remains a powerful icon in the public imagination and is often misunderstood as deterministic and immutable. Furthermore, history reminds us that science may easily be used to justify racial stereotypes and racist policies. Our discussion at Stanford University resulted in part from a desire to try to minimize the chances that scientific research inadvertently contributes either to inequities between groups or to the abuse of human rights. Disagreements did arise during these discussions. For example, biomedical scientists tended to accept that such labels could be used as neutral descriptors of groups of individuals, whereas scholars in the social sciences and humanities tended to question whether such labels could be stripped of embedded sociohistorical meaning. However, dialog and the discovery of language that worked across disciplinary boundaries enabled us to clarify our perspectives and find many points of agreement. This workshop statement constitutes one step in an ongoing, open dialog that takes into account the potential for misinterpretation or misuse of research in human genetic variation. More specifically, this statement looks to shape future use of categories of race and ethnicity in biomedical research.
Risch N, Burchard E, Ziv E, Tang H: Categorization of humans in biomedical research: genes, race and disease. Genome Biol. 2002, 3: comment2007.1-2007.12. 10.1186/gb-2002-3-7-comment2007.
Burchard EG, Ziv E, Coyle N, Gomez SL, Tang H, Karter AJ, Mountain JL, Perez-Stable EJ, Sheppard D, Risch N: The importance of race and ethnic background in biomedical research and clinical practice. N Engl J Med. 2003, 348: 1170-1175. 10.1056/NEJMsb025007.
Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW: Genetic structure of human populations. Science. 2002, 298: 2381-2385. 10.1126/science.1078311.
Wilson JF, Weale ME, Smith AC, Gratrix F, Fletcher B, Thomas MG, Bradman N, Goldstein DB: Population genetic structure of variable drug response. Nat Genet. 2001, 29: 265-269. 10.1038/ng761.
Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, Ramachandran S, Cann HM, Barsh GS, Feldman M, Cavalli-Sforza LL, Myers RM: Worldwide human relationships inferred from genome wide patterns of variation. Science. 2008, 319: 1100-1104. 10.1126/science.1153717.
Lee SS, Mountain J, Koenig BA: The meanings of race in the new genomics: implications for health disparities research. Yale J Health Policy Law Ethics. 2001, 1: 33-75.
Braun L: Race, ethnicity and health: can genetics explain disparities. Perspect Med Biol. 2002, 45: 159-174. 10.1353/pbm.2002.0023.
Koenig BA, Lee SS-J, Richardson S: Revisiting Race in a Genomic Age. 2008, Piscataway, NJ: Rutgers University Press
Rawls J: A Theory of Justice. 1971, Cambridge, MA: Harvard University Press
Dworkin R: A Matter of Principle. 1985, Cambridge, MA: Harvard University Press
Harding S: Should philosophies of science encode democratic ideals?. Science, Technology and Democracy. Edited by: Kleinman DL. 2000, New York: State University of New York Press, 121-138.
Fredrickson GM: Racism: A Short History. 2003, Princeton: Princeton University Press
Lewontin RC: Biology as Ideology: The Doctrine of DNA. 1991, New York: Harper Perennial
Ramachandran S, Deshpande O, Roseman CC, Rosenberg NA, Feldman MW, Cavalli-Sforza LL: Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proc Natl Acad Sci USA. 2005, 102: 15942-15947. 10.1073/pnas.0507611102.
Mountain JL, Cavalli-Sforza LL: Multilocus genotypes, a tree of individuals and human evolutionary history. Am J Hum Genet. 1997, 61: 705-718. 10.1086/515510.
Falush D, Stephens M, Pritchard JK: Inference of population structure using multilocus genotype data. Genetics. 2000, 155: 945-959.
Rosenberg NA, Mahajan S, Ramachandran S, Zhao C, Pritchard JK, Feldman MW: Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet. 2005, 1: 660-671. 10.1371/journal.pgen.0010070.
Cavalli-Sforza LL: Genes, Peoples, and Languages. 2000, New York: North Point Press
Zhivotovsky LA, Rosenberg NA, Feldman MW: Features of evolution and expansion of modern humans, inferred from genomewide microsatellite markers. Am J Hum Genet. 2003, 72: 1171-1186. 10.1086/375120.
Bertoni B, Budowle B, Sans M, Barton S, Chakraborty R: Admixture in Hispanics: distribution of ancestral population contributions in the continental United States. Hum Biol. 2003, 75: 1-11. 10.1353/hub.2003.0016.
Hernstein R, Murray C: The Bell Curve: Intelligence and Class Structure in American Life. 1994, New York: Free Press
Jensen A: The G Factor. New York: Praeger Press
Gould SJ: The Mismeasure of Man. 1981, New York: Norton and Company
Mountain JL, Risch NJ: Assessing the genetic contribution to phenotypic differences among 'racial' and 'ethnic' groups. Nat Genet. 2004, 36: S48-S53. 10.1038/ng1456.
Ossorio P, Duster T: Race and genetics: controversies in biomedical, behavioral, and forensic sciences. Am Psychol. 2005, 60: 115-128. 10.1037/0003-066X.60.1.115.
Editorial: Genes, drugs and race. Nat Genet. 2001, 29: 239-10.1038/ng1101-239.
Sankar P, Cho M, Mountain JL: Race and ethnicity in genetic research. Am J Med Genet. 2007, 143A: 961-970. 10.1002/ajmg.a.31575.
Celeste CM, Ofulue N, Sheedy KM: Determinism and mass-media portrayals of genetics. Am J Hum Gen. 1998, 62: 979-984. 10.1086/301784.
Holden C: Race and medicine. Science. 2003, 302: 594-596. 10.1126/science.302.5645.594.
Condit CM, Parrott RL, Bates BR, Bevan JL, Achter PJ: Exploration of the impact of messages about genes and race on lay attitudes. Clin Genet. 2004, 66: 402-408. 10.1111/j.1399-0004.2004.00327.x.
Feldman MW, Lewontin RC, King MC: Race: a genetic melting pot. Nature. 2003, 424: 374-10.1038/424374a.
Mountain JL, Risch NJ: Assessing the genetic contribution to phenotypic differences among 'racial' and 'ethnic' groups. Nat Genet. 2004, 36: S48-S53. 10.1038/ng1456.
Wailoo K: Dying in the City of Blues: Sickle Cell Anemia and the Politics of Race and Health. 2001, Raleigh, NC: University of North Carolina Press
Taylor MB: Reflection and reaction: Tuskegee revisited. Lancet Infect Dis. 2005, 5: 467-468. 10.1016/S1473-3099(05)70173-0.
Epstein S: Impure Science: AIDS, Activism and the Politics of Science. 1996, Berkeley: University of California Press
We would like to acknowledge the tremendous intellectual contribution of George Fredrickson, late Professor Emeritus of History at Stanford University, to the creation of this statement. His life-long commitment to the study of racism was critical to the workshop discussion and our understanding of processes of racialization over time. Joanna Mountain and Barbara A Koenig were faculty members at Stanford University during the course of this dialog and were co-organizers of the initial workshop. This work was supported by the National Institutes of Health (career development award K01 HL72465 to SL).
About this article
Cite this article
Lee, S.SJ., Mountain, J., Koenig, B. et al. The ethics of characterizing difference: guiding principles on using racial categories in human genetics. Genome Biol 9, 404 (2008). https://doi.org/10.1186/gb-2008-9-7-404
- Genetic Data
- Ethnic Category
- Human Genetic Variation
- Genetic Explanation
- Racist Ideology