Table 1

Example concerns with the use of 'race' in genetic research (long version including quoted
references)
Example re...
•   There is a lack of agreement both in the public sphere and amongst
               researchers on what is meant by the ...
'Defining the molecular underpinnings of common chronic disease has therefore
become the central focus of genetic epidemio...
'Other groups that have been invited to participate in genetics research have
expressed similar concerns, particularly aro...
'It is possible that the ongoing controversy over race-based ("population-dosing”)
pharmacotherapy will fade as large scal...
18.Sankar P, Cho MK, Mountain J: Race and ethnicity in genetic research. Am J Med Genet
   2007, 143:961-970.
19.Lee SS, M...
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  1. 1. Table 1 Example concerns with the use of 'race' in genetic research (long version including quoted references) Example research concerns • Stratification by race is being used on the assumption it can serve as a proxy for genetic similarity, but there is disagreement regarding the degree to which race correlates with genetic variation. Support for the existence of geographical ancestry-informative genetic clusters that correspond with the common conception of racial groups 'We examined 30 microsatellite loci in about 10 individuals from each of 14 indigenous populations chosen from the five continents... A tree constructed from the pairwise inter-individual distances shows that individuals cluster according to their geographic origin'.[1] 'Without using prior information about the origins of the individual, we identified 6 major genetic clusters, 5 of which correspond to major geographical regions'. [2] 'We provide an epidemiological perspective on the issue of human categorization in biomedical and genetic research that strongly supports the continued use of self-identified race and ethnicity '.[3] 'Bayesian cluster analysis was largely concordant with previous analyses of microsatellite and short insertion-deletion polymorphisms. Analysis with 6 clusters revealed groupings corresponding to 5 geographic subdivisions separated by major barriers...'[4] 'At K=5, the 938 individuals segregate into5 continental ancestral groups...Many populations have been isolated from each other by geography or custom. The observation that they are genetically distinguishable suggests that self-reported ancestry is sufficiently accurate for assessing population stratification in disease studies, except for those involving recent admixture'.[5] Support for the non-existence of racially-informative genetic clustering 'Human races are not distinct lineages, and this is not due to recent admixture; human races are not and never were ‘pure’. Instead, human evolution has been and is characterized by many locally differentiated populations coexisting at any given time, but with sufficient genetic contact to make all of humanity a single lineage sharing a common evolutionary fate'.[6] 'We find that commonly used ethnic labels are both insufficient and inaccurate representations of the inferred genetic clusters, and that drug-metabolizing profiles, defined by the distribution of DME variants, differ significantly among the clusters'.[7] 'The distribution of variants within and among human populations... are impossible to describe succinctly because of the difficulty of defining a 'population', the clinal nature of variation and heterogeneity across the genome'. [8] Our results show that individuals are sampled homogeneously from around the globe, the pattern seen is one of the gradients of allele frequencies that extend over the entire world, rather than discrete clusters. Therefore, there is no reason to assume that major genetic discontinuities exist between different continents or races.[9] 'This study suggests that significant population substructure differences exist that self-reported race alone does not capture and that individual ancestry may be confounded with disease-status and/or a candidate gene risk genotype'.[10]
  2. 2. • There is a lack of agreement both in the public sphere and amongst researchers on what is meant by the term 'race'. In genetic research it is not being defined or applied consistently, nor is a rationale for the analysis of race in studies being consistently provided. This leads to a lack of clarity about the groups being investigated, hindering reproducibility and generalizability between studies, and slowing scientific progress. 'A careful examination of the discourse on race suggests there is miscommunication: different usages of the term exist which reflects a melange of old science, social practice and their entwined histories. Hence there is much confusion'.[11] 'The Institute of Medicine (IOM) recently recommended that the National Institutes of Health (NIH) re-evaluate its employment of 'race', a concept lacking scientific or anthropological justification, in cancer surveillance and other population research'.[12] 'Some of the complexity of race comes from its multiple overlapping meanings that span popular and scientific use. Further confusion in generated, however, by the tendency to leave race undefined'.[13] 'The confused nature of this debate is apparent when we recognize that although everyone ... tends to use race as if it were a scientific category... no one offers a quantifiable definition of what race is in genetic terms'.[14] ''Race' and 'ethnicity' are poorly defined terms that serve as flawed surrogates for multiple environmental and genetic factors in disease causation, including ancestral geographic origins, socioeconomic status, education and access to health care.[15] 'Religious, cultural, social, national, ethnic, linguistic, genetic, geographical and anatomical groups have all been and are sometimes still referred to races'.[16] 'The use of race as a category in medical research is the focus of an intense debate, complicated by the inconsistency of presumed independent variables, race and ethnicity, on which analysis depends. More attention needs to be given to the definition of race and ethnicity in genetic studies'.[17] 'The recommendation that authors using race or ethnicity terms explain the basis for assigning them to study populations was met infrequently (9.1%), and articles that used race and ethnicity as variables were no more likely than those that used them only to label a sample to provide these details. No article defined or discussed the concepts of race or ethnicity'.[18] Example social concerns • Stratification by race in genetic research may over-emphasize the role of genetics as the basis for health disparities deflecting research funding and attention away from the substantial socio-economic and political determinants of inequities. ' We suggest the application of a naive genetic determinism will not only reinforce the idea that distinct genetic races exist, but will divert attention from the complex environmental, behavioural and social factors contributing to a excess burden of illness among certain segments of the diverse US population'.[19] 'Thus, in practice genetic explanations for observed differences are common both in the scientific literature and in popular media accounts of biomedical research. Such explanations naturalize racial and ethnic difference and create a conceptual barrier to developing a research program that explores the complex ways in which social inequality and experiences of racial discrimination interact with human biology to influence patterns of disease'.[20]
  3. 3. 'Defining the molecular underpinnings of common chronic disease has therefore become the central focus of genetic epidemiology... Genes are regularly proposed as the cause when no genetic data have been obtained'.[14] 'Overemphasis on genetics as a major explanatory factor in health disparities could lead researchers to miss factors that contribute to disparities more substantially and may also reinforce racial stereotyping, which may contribute to disparities in the first place'.[21] 'Clearly, a tendency for biological reductionism can place many biomedical issues beyond the scope of public health interventions'.[22] 'These efforts to racialize or geneticize disease have several dangerous implications; they may compromise the health of people of colour by eliminating from consideration the social determinants of health problems'.[23] • Use of race to categorize groups in genetic research may lead to over- emphasis of the relative magnitude of genetic differences between populations and to the reification of 'race' as a natural genetically- determined system of human classification (leading to 'racialization' and a belief in genetic underpinnings for social inequities and differences between groups). 'As opposed to a catalogue of attributes, race is best understood as the result of a process that distinguishes groups through prevailing social values and institutional practices. In this process of racialization, group differences and social inequalities are often rearticulated as biological realities'.[24] 'Although the project (HapMap) used population samples rather than racial or ethnic groupings... the project ran the risk that this first approximation of human population structure might be subsequently taken as evidence for a new categorization of human stereotypes'. [25] 'Many social scientists have suggested that by linking 'racial' or 'ethnic' categories to biology (especially genetics), one reifies these categories and thereby influence attitudes and behaviour'.[21] ' ...is also known as the fallacy of reification. Recent research in medicine and genetics makes it even more crucial to resist actively the temptation to deploy racial categories as if immutable in nature and society'.[26] 'This discussion focuses on an 'infrastructure of racialization' created by current trajectories for research on genetic differences among racially defined groups...'[27] 'We must avoid the slippery slope of turning socially constructed racial categories into genetic realities'.[28] • Use of racial or population groups in studies to identify the genetic variation underlying disease susceptibilities can lead to 'racialization' of disease, whereby the disease state becomes irrevocably identified and linked with that group. (This can lead to several secondary outcomes including; the discrimination and stigmatization of members of the group in question; decreased access to information, surveillance and treatment that may be valuable to other groups). 'The implications of the use of race in the new genomic medicine - in particular racialized disease- are discussed. We warn of the consequences of a shift toward population-based care, including targeted genetic screening for racially- indentified groups, including stigmatization and discrimination'.[19]
  4. 4. 'Other groups that have been invited to participate in genetics research have expressed similar concerns, particularly around the tendency to conflate genes with race and the fear that knowledge of genetic risk will be used to stigmatize the group at large’.[29] 'Researchers incorporate race in research designs in several ways... Even if in rare circumstances, certain alleles have been found exclusively in one population, to call a chromosome white or Asian makes an inappropriate link between a rapidly shifting social term and a fixed biological entity'.[13] 'We explored the advantages and disadvantages of using ethnic (ie. racial as they use race in the text of this report) categories in genetic research. With the discovery that certain breast cancer gene mutations appeared to be more prevalent in Ashkenazi Jews, breast cancer researchers moved their focus from high-risk families to ethnicity... Our findings cast doubt on the accuracy and desirability of linking ethnic groups to genetic disease. Such linkages exaggerate genetic differences among ethnic groups and lead to unequal access to testing and therapy'.[30] Example clinical/health care concerns • The descriptive use of race in genetic and biomedical research can lead to racial stereotyping in clinical practice. For example, the use of perceived or self-identified 'race' as a proxy for genotype in prescribing most often overly simplifies the concept of pharmacogenomics. Diagnosis or assessment of disease risk based on 'race' similarly can result in serious medical errors. 'Drawing on the example of HIV/AIDS, this paper demonstrates how public health has been undermined by the use of race/ethnicity as an analytical variable, both as a cipher for innate genetic differences in susceptibility and response to treatment'.[22] ' Importantly, they produce, reify, and naturalize notions of racial difference, provide a scientific rationale for racially targeted medical care, and distract attention from research that probes the complex ways in which political, economic, social, and biological factors, especially those of inequality and racism, cause health disparities'.[31] 'Modern human population genetic research demonstrates that apportioning human into 'racial' groups, particularly those defined by our historical conceptions of race, is a dubious enterprise. Dangerous consequences may follow from the integration of racial medicine into clinical practice. In addition to fostering social inequality by underscoring racial classification, racial medicine racial medicine might kill people by ignoring the substantial variation within, and genetic overlap between, human populations'.[32] 'Both historical evidence and contemporary genetic research suggest that “racial profiling” in medicine can lead to serious medical errors. Assessing risk through race is more problematic than its typical depiction in the media and in scholarly literature. Some argue that race can stand in for human genetic variance until individualized genetic medicine is fully developed. But such a position produces a critical paradox: the rates of morbidity and death from particular diseases are not uniformly distributed among socially defined racial and ethnic groups throughout the world. In order to monitor the success of attempts to address these health inequalities, we need to keep health records based on racial and ethnic categories. This is a descriptive use of ethnoracial categories. Descriptive statistics derived from population surveys using racial definitions based on self- identity, however, are not biological or attributive categories appropriate for individual treatment'.[33]
  5. 5. 'It is possible that the ongoing controversy over race-based ("population-dosing”) pharmacotherapy will fade as large scale genotyping of PGx traits becomes more economical, and applied more extensively to inform drug therapy decisions. Regarding admixed populations, I believe that the evidence already available argues strongly against the use of racial/ethnic criteria as a guidance to drug therapy'.[34] 1. Bowcock AM, Ruiz-Linares A, Tomfohrde J, Minch E, Kidd JR, Cavailli-Sforza LL: High resolution of human evolutionary trees with polymorphic satellites. Nature 1994, 368:455-457. 2. Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW: Genetic structure of human populations. Science 2002, 298:2381-2385. 3. Risch N, Burchard E, Ziv E, Tang H: Categorization of humans in biomedical research: genes, race and disease. Genome Biol 2002, 3:comment2007 4. Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, et al: Genotype, haplotype and copy-number variation in worldwide human populations. Nature 2008, 451: 998-1003 5. Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, Ramchandran 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. 6. Templeton A: Human races: A genetic and evolutionary perspective. Am Anthropol 1998, 100:632-650. 7. Wilson JF, Weale ME, Smith AC, Gatrix F, Fletcher B, Thomas MG, Bradman N, Goldstein DB: Population genetic structure of variable drug response. Nat Genet 2001, 29:265-269. 8. Long JC, Kittles RA: Human genetic diversity and the nonexistence of biological races. Hum Biol 2003, 75:449-471. 9. Serre D, Paabo S: Evidence for gradients of human genetic diversity within and among continents. Genome Research 2004, 14:1679-1685. 10.Barnholtz-Sloan JS, Chakraborty R, Sellers TA, Scwartz AG: Examining population stratification via individual ancestry estimates versus self-reported race. Cancer Epidemiol Biomarkers Prev 2005, 14:1545-1551. 11.Keita SO, Boyce AJ: "Race": confusion about zoological and social taxonomies, and their places in science'. Am J Hum Biol 2001, 13:569-575. 12.Oppenheimer GM: Paradigm lost: race, ethnicity, and the search for a new population taxonomy. Am J Public Health 2001, 91:1049-1055. 13.Sankar P, Cho MK: Genetics. Toward a new vocabulary of human genetic variation. Science 2002, 298:1337-1338. 14.Cooper RS, Kaufman JS, Ward R: Race and genomics. New Engl J Med 2003, 348:1166-1170. 15.Collins FS: What we do and dont know about 'race', 'ethnicity', genetics and health at the dawn of the genome era. Nat Genet 2004, 36(11 Suppl):S13-S15. 16.Keita SO, Kittles RA, Royal CD, Bonney GE, Furbert-Harris P, Dunston GM, Rotimi CN: Conceptualizing human variation. Nat Genet 2004, 36(11 Suppl):S17-S20 17.Shanawani H, Dame L, Scwartz S, Cook-Deegan R: Non-reporting and inconsistent reporting of race and ethnicity in articles that claim association among genotype, outcome and race or ethnicity. J Med Ethics 2006, 32:724-728.
  6. 6. 18.Sankar P, Cho MK, Mountain J: Race and ethnicity in genetic research. Am J Med Genet 2007, 143:961-970. 19.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. 20.Braun L: Race, ethnicity, and health: can genetics explain disparities? Perspect Biol Med 2002, 45:159-174. 21.Sankar P, Cho MK, Condit CM, Hunt LM, Koenig B, Marshall P, Lee SS, Spicer P: Genetic research and health disparities. JAMA 2004, 291:2985-2989. 22.Outram SM, Ellison GTH: Anthropological insights into the use of race/ethnicity to explore genetic contributions to disparities in health. J Biosoc Sci 2006, 38:83-102. 23.Center for American Progress. [http://www.americanprogress.org] 24.Omi M, Winant H: Racial Formation in the United States: from the 1960's to the 1990's. New York: Routledge; 1986. 25.Rotimi CN: Are medical and nonmedical uses of large-scale genomic markers conflating genetics and 'race'? Nat Genet 2004, 36(11 Suppl):S43-S47 26.Duster T: Medicine. Race and reification in science. Science 2005, 307:1050-1051. 27.Lee SS: Racializing drug design: implications of pharmacogenomics for health disparities. Am J Public Health 2005, 95:2133-2138. 28.Brewer RM: Thinking critically about race and genetics. J Law Med Ethics 2006, 34:513-519, 480. 29.Clayton EW: The complex relationship of genetics, groups, and health: what it means for public health. J Law Med Ethics 2002, 30:290-297. 30.Brandt-Rauf SI, Raveis VH, Drummond NF, Cont JA, Rothman SM: Ashkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic disease. Am J Public Health 2006, 96:1979-1988. 31.Braun L: Reifying human difference: the debate on genetics, race, and health. Int J Health Serv 2006, 36:557-573. 32.Graves Jr JL, Rose MR: Against racial medicine. Patterns of Prejudice 2006, 40:481-493. 33.Braun L, Fausto-Sterling A, Fullwiley D, Hammonds EM, Nelcon A, Quivers W, Reverby SM, Shields AE: Racial categories in medical practice: how useful are they? PLoS Med 2007, 9:e271. 34.Suarez-Kurtz G: The implications of population admixture in race-based drug prescription. Clin Pharmacol Ther 2008, 83:399-400.

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