Practice of ancestry estimation in genetic epidemiology research: Implications for understanding biological risk and responsibility

Epidemiological uses of Ancestry Informative Markers and related ancestry estimation methods have the potential to affect biomedical and societal understandings of human health as potently as commercial ancestry tests have been shown to affect personal and collective identity. In the context of government and public mandates to eliminate racial health disparities, the use of ancestry in the identification of genetic susceptibility is instrumental to the production of biomedical knowledge relevant to the management of disease risk in racially and ethnically ascribed populations. Thus, ancestry-based practices have the potential to contribute to the ways in which individuals and groups come to know themselves as biological beings and with this knowledge, manage their risks as responsible members of society. Through key informant interviews with genetic epidemiologists engaged in ancestry-based research and participant-observation of ancestry-based practices, this study draws on the transition from race-based to ancestry-based stratification in genetic epidemiology as an opportunity to learn specifically how current scientific practices inform, and are informed by, notions of risk and responsibility characterized by ancestry. By delineating how ancestry-based practices are altering scientific perceptions of disease causation, population, and risk, this project is expected to help genetic epidemiologists better identify the meaning and significance of ancestry-based research practices from a socially oriented view of the science.