Exploring Concepts of Population in Two Human Genetic Sample Collection Labs

The proposed project explores a new direction in our larger research on the use of human genetic variation studies in the search for biomedically related genetic markers. Broadly, the aim of the new add-on project and the original project is to understand how human genetic variation researchers operationalize the concept of "a human population." Together, these studies will provide empirical information that will help geneticists and bioethicists to understand whether there may be potential downstream social and biomedical consequences of different conceptualizations. Through these studies we are investigating how the concept of population is operationalized during sample collection and analysis both within and across scientific research projects. Our research methodology involves primarily ethnographic observation, interviews, and documentary analyses, which will be employed in the proposed study. The proposed project will study how data in different human genetic variation studies is collected and analyzed and how different aspects of scientific work (e.g. sample collection design and practices, statistical analysis of data, etc.) influences the definition and operationalization of genetic populations. We are especially interested in scientists' efforts to avoid the reification of social categories such as race in human genetic variation studies, especially as they relate to disease variant research. The proposed project will provide data from two laboratory field sites that complement the laboratory field sites we are currently studying. These two new sites are crucial for understanding how the selection of groups from whom DNA samples are collected for genome wide association studies impacts the way researchers operationalize the concept of human populations. It will provide information on DNA sample collection processes, for comparison with DNA analysis processes, and will add research on several ethnic groups that are absent from our current research sites. These include groups of individuals in the U.S. who self identify as Latinos/Hispanics, Native Hawaiians, and Japanese. PUBLIC HEALTH RELEVANCE - The proposed project will investigate the conceptualization and operationalization of the concepts of population in the data collection design and practices at the front end of human genetic variation research on disease related genetic variants. That research aims to provide better tools for health related genetic research. The aim of the proposed project is to provide information and analyses that will be useful towards improving the reliability of these public health-related genetic variation studies.