Penn Bioethics Seminar Series: Kellie Owens, PhD

What counts as health data? Actionability and ignorance in genomic medicine

Kellie Owens, PhD
K99/R00 Postdoctoral Fellow, Division of Medical Ethics
Department of Medical Ethics and Health Policy, 
Perelman School of Medicine, University of Pennsylvania

Abstract: As clinical genomic sequencing becomes more widely available, we hope that identifying pathogenic and highly penetrant gene variants for patients can lead to treatment or lifestyle interventions and better health outcomes. But sequencing produces large amounts of data, much of which is hard to characterize or may have a negligible influence on health. Clinicians and researchers use the concept of “actionability” to help separate genomic data that may be useful from data that is likely irrelevant for patients. But there is ongoing debate about how to define actionability, and published guidelines in the United States and abroad present different conclusions about what counts as genomic data worthy of returning to patients. Experts disagree, for example, about the evidence of pathogenicity needed to define a result as actionable, or what interventions count as actionable. And, because genomic databases are filled primarily with samples from European-ancestry populations, data can be less accurate for other groups. Based on interviews with clinical geneticists and an archival analysis of actionability guidelines from multiple countries, I characterize the varied meanings of actionability in clinical genomics. I focus on how these expert groups define what counts as health data, finding that their conceptualizations are influenced by a range of different values and assumptions in addition to scientific or medical evidence. As the amount of health data available to clinicians expands, it is critical to understand how this data does or does not get made into meaningful information.

For more information, contact Mary Pham, Mary.Pham@pennmedicine.upenn.edu.