Doctoral Dissertation Research Improvement Grant: Biobanking, Epistemic Infrastructure, and the Lifecycle of Genomic Data

This doctoral dissertation research improvement grant supports a project on the use of big data science methods in genomics. Much of the research in genomics involves the use such methods; that is to say, they require data from thousands of participants in order to detect subtle relationships between genes and health outcomes. The work of recruiting participants and organizing their data is an increasingly complex task, outpacing the ability of individual scientists to produce data at the scale they need to conduct research. To address this gap, a variety of private entities, healthcare providers, nonprofits, research collectives and governmental funding agencies have formed organizations called biobanks. Biobanks produce large amounts of genetic and health data that can be used across a number of research projects. While biobanks are undoubtedly necessary for big data research, they also transfer a number of critical data collection decisions from laboratory scientists to biobank designers and database administrators. This project offers insights into how biobank design affects discovery in human genomics. The aim is to contribute to public understanding of the impact of digital technologies on knowledge of human health and disease. This research project examines biobanking practices across multiple organizations, building on the concept of epistemic infrastructures, meaning the tools that shape and constrain how we produce knowledge. The research explores three key questions: How biobanks make decisions about which data they will collect; how research communities adapt their research aims in response to those choices; and how biobanks change over time in response to pressures from both within and outside of the research communities they serve. To address these questions, the project uses a mixed-methods approach, which includes analyzing technical literature about biobank design, research literature produced using biobank data, conducting interviews with biobankers, and observing their work. In the process, this research uncovers the mechanisms by which biobanks influence genomic research and offers a new perspective on the relationship between data infrastructures and the production of scientific knowledge. 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.