Doctoral Dissertation Research: The Integration of Extra-Clinical Contexts and Genetic Disease Diagnosis

Cornell University, Ithaca NY

Investigators

Abstract

Genetic medicine has emerged as a global healthcare and research priority. However, the finding that specific diseases vary in prevalence across populations has given rise to questions and concerns that extend beyond the biological. These are such questions as, Will diagnosis become the impetus for discrimination in the funding of research or the availability of treatment? Could an association between diseases and sub-populations become a tool for political organizing or social and cultural differentiation? The anthropological research supported by this award will investigate these issues through a focus on sickle cell disease, a group of blood disorders that affects the blood's ability to carry oxygen. Sickle cell is the most common genetic disease worldwide and affects as many as 100,000 Americans. Because sickle cell is also uneven in its distribution, it is an appropriate domain for investigating concerns about changing understandings of the relationship between genes and social life. Genetic diseases increasingly dominate the landscape of biomedicine worldwide, and this project will help to understand the socio-political implications of these shifts. The research will be conducted by Cornell University anthropology doctoral student, Rebekah Ciribassi, with guidance from Dr. Stacey Langwick. The researcher has chosen to conduct the research in Tanzania, because it has one of the world's highest rates of children born with sickle cell disease. Because sickle cell in Tanzania is at the center of a growing network of infrastructure, advocacy, research, and care, including widespread testing, the disease is discussed widely in the public forum, which will make any socio-political relationships easier to uncover and track over time than would be the case where the disease is less common or less talked about. The researcher has identified two areas of the country, Mwanza and Zanzibar, where people are grappling with sickle cell disease but where the political, racial, and social histories through which they make sense of an inherited disease are very different. This funding is for the second phase of the research, the component to be carried out in Zanzibar. The investigators will gather data from (1) medical practitioners who work in sickle cell disease care in a hospital setting; (2) sickle cell advocacy group participants; and (3) diagnosed families. She will employ a mix-method social science approach including: archival and discourse analysis; participant observation in hospital clinics; and interviews and life history interviews with diagnosed families. The investigators will build a comparison between the data collected in the Zanzibari context and the data collected in Mwanza, with special attention to emergent themes around blood; kinship (e.g., inheritance and reproduction); race and ethnicity; and nation. The resulting analysis will assess how genetic medicine integrates with extra-clinical contexts. The results of this research will offer an important contribution to literature on the Ethical, Legal, and Social Implications (ELSI) of genetic medicine. Findings from this research will contribute to social scientific theory and to improved policy regarding the increasing spread of genetic medical infrastructures. This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.