What are our AIMs? Public Health Genetics and the Practice of Ancestry Informative Markers

Despite growing concerns over the limitations and implications of direct-to-consumer (DTC) ancestry testing, ancestry estimation in biomedical research has received little attention. A significant concern is that the use of genetic ancestry may further entrench a biologically-oriented view of race and related health disparities. This study investigates the use of ancestry estimation in genetic epidemiologic research through a qualitative study of scientists who use ancestry estimation in genetic association studies to address the problem of confounding due to population stratification.;The dissertation is divided into five chapters. Chapter 1 provides an introduction to the discourse on the use of racial classification in genetics research, the rise of ancestry as a concept and set of practices, and the application of genetic ancestry estimation to genetic epidemiologic research. Chapter 2 presents a content analysis of the primary literature in which ancestry estimation has been used to conduct structured association analyses. Chapter 3 presents an analysis of key informant interviews conducted with scientists who use ancestry estimation. Chapter 4 presents an analysis of key informant interviews and participant-observation conducted with research groups who use ancestry estimation. Chapter 5 concludes with a summary of findings and future directions for research.;This study finds that the application of ancestry estimation to genetic epidemiologic research is, in many cases, unwarranted. Further, scientists' notions of responsibility are, in part, driven and affected by ancestry estimation practices. Finally, this study finds that an interdisciplinary perspective is needed to understand the potential benefits and harms of using ancestry estimation in disease research.