Thesis ID: CBB242528833

Are You in or Out? Constructing Populations and Population Health in Genetics and Genomics (2023)


In recent years, one of the primary topics in human genetics discourse has been the diversity problem, or the fact that most published analyses are conducted in near-exclusively European ancestry populations. To rectify the diversity problem and ensure that genomic applications do not exacerbate existing population health disparities, new initiatives have focused on recruiting “underrepresented” and “underserved” communities into genomic studies. These initiatives, in turn, have reignited the conversation about how to distance population categories used in genomics from race realism, and launched a new debate about the meaning of health equity in the context of genomic knowledge and applications. This dissertation examines how the concept of “population” has come to be so critical and yet so uncertain in genomic research, and what some of the consequences of this ambiguity have been as genomic technologies make their way into healthcare. I focus specifically on how population concepts are intertwined with notions of population health management, in the historical intersections between genetics and epidemiology, and in the contemporary projects of precision health research and genetic risk screening. Using an historical genealogy of the discipline of genetic epidemiology, I first show how the statistical style of scientific reasoning shared between population genetics and epidemiology enabled a form of methodological interdisciplinarity, even as the meaning of population health research has become more of a tension between the fields. Second, using case studies of NIH’s All of Us Research Program and Geisinger Health’s MyCode project, I demonstrate how the translation of genomic research into technologies for genetic risk detection exacerbates this tension by creating new forms of populations at-risk. This project draws together medical sociology’s interest in the structural causes of health outcomes with science and technology studies’ focus on the coproduction of knowledge and social order, to reveal how genetic understandings of populations redefine population health. I show that the process through which genomics has become a population-based science has also rendered it distinctly unable to respond to fundamental causes of health inequalities, forcing the field to into repeat conflicts over the meaning of racial and ethnic categories in social and biological terms.

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Authors & Contributors
Bliss, Catherine Anne
Fujimura, Joan H.
Rajagopalan, Ramya
Reardon, Jenny
Chadarevian, Soraya de
Egorova, Yulia
Historical Studies in the Natural Sciences
Social Studies of Science
Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences
Annals of the American Academy of Political and Social Science
Current Anthropology
MIT Press
Princeton University Press
Rutgers University Press
Stanford University Press
University of Chicago Press
New School University
Human genetics
Science and race
Population genetics
Foucault, Michel
Time Periods
20th century, late
21st century
20th century
United States
Islands of the Pacific
Hawaii (U.S.)
Human Genome Project
World Health Organization (WHO)

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