Race, Ethnicity, and Genomics: Social Classifications as Proxies of Biological Heterogeneity

Abstract

Over the past century, genetics has experienced a tension between the view that racial and ethnic categories are biologically meaningful and the view that these social classifications have little or no biological significance. That tension continues to inform genomics and is evident in the assembly of biological collections and sequence databases that seek to approximate the genetic variation found in human populations. Although social identities can be useful and convenient proxies of some biological features, for example, in ensuring that genomic resources capture a range of genetic variants found in most human populations, the ways in which geneticists conceptualize the relationship between racial and ethnic identities and genetic variation can be problematic. Inclusion of racial and ethnic identifiers in genomic resources can create risks for all members of those identified populations and influence lay perceptions of the nature of racial and ethnic groups. Thus, the burden of showing the scientific utility of racial and ethic identities in the construction and analysis of genomic resources falls on researchers. This requires that genetic researchers pay as much attention to the social constitution of human populations as presently is paid to their genetic composition.

The International HapMap Project

“…As a result, no populations are typical, special or sharply bounded 44,45 . As most common patterns of variation can be found in any population 46 , no one population is essential for inclusion in the HapMap.…”

Changing the paradigm from 'race' to human genome variation

“…Introduction to the state of the science Knowledge gained from the Human Genome Project and research on human genome variation is forcing a paradigm shift in thinking about the construct of 'race' [1][2][3][4][5][6][7][8] , much like the process described by Thomas Kuhn in his renowned book, The Structure of Scientific Revolutions 9 . Kuhn describes the paradigm shift in science as occurring when anomalous, scientific results cannot be explained by inadequate methods.…”

Referent tracking for treatment optimisation in schizophrenic patients: A case study in applying philosophical ontology to diagnostic algorithms

“…Although today nearly all geneticists reject the idea that biological differences are tracked by racial and ethnic distinctions, the sequencing of the human genome has identified certain genetic variants associated with different frequencies of disease susceptibility, environmental response, and drug metabolism in different ethnic and racial populations as traditionally defined [26]. This does not constitute an argument for the acceptance of race as a natural kind, or, for example, to accept Caucasian human as a subtype of human in the same sense that human is a subtype of mammal.…”