The Genetic Anthropologist’s Contribution to Understanding Race and Racial Health Disparities

The study of “race” has a deep and contentious history within biological anthropology, where it was once the central theoretical concept of the field (Caspari 2003). Building off of typological models of human variation put forth by scholars such as Johann Friedrich Blumenbach and Samuel George Morton, essentialist ideas about race as natural categories in which to subdivide humans were at the root of the eugenics movement in the United States and around the world. Biological determinism was leveraged as a means to justify the implementation of social programs to control reproduction that ranged from genetic screening to genocide. Early twentieth-century anthropologists such as Franz Boas pushed back against these notions, demonstrating the environmental plasticity of human phenotypes through study of intergenerational changes in cranial indices (Boas 1910). Later genetic research established that humans could not be divided into genetically discrete homogeneous groups and that distinct human races possessing fundamental innate biological differences do not exist. Such research framed race as a social construct with no biological basis.

Within the last decade, a rising awareness of dramatic and persistent racial disparities in health, coupled with the recent growth of global databases of genomic diversity, have led to a resurgence of debate concerning the meaning of race. Emerging data have called into question whether the concept of race has any meaningful biological ramifications for the health of populations, and new research has raised the possibility that racism is an important risk factor for disease, alongside other important structural and environmental factors. In this special issue, we present articles that demonstrate how genetic anthropologists contribute to these important debates. These studies are a result of a special symposium hosted by the American Association of Anthropological Genetics at the 2015 American Association of Physical Anthropology conference in St. Louis, Missouri, titled “Rethinking Racial Health Disparities: The Genetic Anthropologist’s Contribution to Debates over Health Inequalities.” This symposium brought together anthropological researchers who have made important contributions to the study of human genetic variation and who have provided critical insights into debates about the meaning of race and the causes of racial disparities in health. In this introduction, we highlight three primary themes that can be drawn from these articles: (1) our limited understanding of the genetic architecture underlying the global variation of complex phenotypic traits, (2) the persistence of dangerous misconceptions about race, and (3) integrating ethnographic research into biological studies of population health aids in identifying salient factors contributing to racial disparities in health.

Much remains to be learned regarding the genetic variation that underlies phenotypic differences among people around the world. For example, skin pigmentation is perhaps one of the best-studied phenotypic traits in humans. Decades of research have demonstrated the clinal distribution of skin color across the globe and have identified many of the genes contributing to skin pigmentation phenotypes. However, as Ellen E. Quillen reveals in this special issue, we know relatively little about the role of genetic variation underlying differences in tanning. Tanning response, not constitutive pigmentation alone, may have been an important adaptation for survival in regions of high ultraviolet radiation. Further investigation into human pigmentation variation will help refine our understanding of the environmental impact on human phenotypic variability and will continue to debase the lingering effects of past scientific racism. In another example, Michael D. Edge and Noah A. Rosenberg in this issue find that neutral traits, even when influenced by a large set of loci, do not provide any more information about population membership than a single neutral genetic locus. They further conclude that systematic patterns of racial disparities in health (particularly when the disparities always tend to go in the same direction) are unlikely to be the result of neutral genetic variation and are more likely to result from systematic environmental differences.

Dangerous misconceptions about race are often held by the medical community (see Bolnick, this issue) and are carried into classrooms and research studies when teaching and operationalizing concepts of race (Torres and Torres Colón, this issue) or when interpreting ancestry of indigenous communities (Bader and Malhi, this...