quote: In the wake of the sequencing of the human genome in the early 2000s, genome pioneers and social scientists alike called for an end to the use of race as a variable in genetic research (1, 2). Unfortunately, by some measures, the use of race as a biological category has increased in the postgenomic age (3). Although inconsistent definition and use has been a chief problem with the race concept, it has historically been used as a taxonomic categorization based on common hereditary traits (such as skin color) to elucidate the relationship between our ancestry and our genes. We believe the use of biological concepts of race in human genetic research—so disputed and so mired in confusion—is problematic at best and harmful at worst. It is time for biologists to find a better way.
Racial research has a long and controversial history. At the turn of the 20th century, sociologist and civil rights leader W. E. B. Du Bois was the first to synthesize natural and social scientific research to conclude that the concept of race was not a scientific category. Contrary to the then-dominant view, Du Bois maintained that health disparities between blacks and whites stemmed from social, not biological, inequality (4). Evolutionary geneticist Theodosius Dobzhansky, whose work helped reimagine the race concept in the 1930s at the outset of the evolutionary synthesis, wrestled with many of the same problems modern biologists face when studying human populations—for example, how to define and sample populations and genes (5). For much of his career, Dobzhansky brushed aside criticism of the race concept, arguing that the problem with race was not its scientific use, but its nonscientific misuse. Over time, he grew disillusioned, concerned that scientific study of human diversity had “floundered in confusion and misunderstanding” (6). His transformation from defender to detractor of the race concept in biology still resonates.
Today, scientists continue to draw wildly different conclusions on the utility of the race concept in biological research. Some have argued that relevant genetic information can be seen at the racial level (7) and that race is the best proxy we have for examining human genetic diversity (8, 9). Others have concluded that race is neither a relevant nor accurate way to understand or map human genetic diversity (10, 11). Still others have argued that race-based predictions in clinical settings, because of the heterogeneous nature of racial groups, are of questionable use (12), particularly as the prevalence of admixture increases across populations.
Several meetings and journal articles have called attention to a host of issues, which include (i) a proposed shift to “focus on racism (i.e., social relations) rather than race (i.e., supposed innate biologic predisposition) in the interpretation of racial/ethnic ‘effects’” (13); (ii) a failure of scientists to distinguish between self-identified racial categories and assigned or assumed racial categories (14); and (iii) concern over “the haphazard use and reporting of racial/ethnic variables in genetic research” (15) and a need to justify use of racial categories relative to the research questions asked and methods used (6). Several academic journals have taken up this last concern and, with mixed success, have issued guidelines for use of race in research they publish (16). Despite these concerns, there have been no systematic attempts to address these issues and the situation has worsened with the rise of large-scale genetic surveys that use race as a tool to stratify these data (17).
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