Black Boxes with Gray Answers: Panel Testing for Cancer Genetic Risk

• In Event: 262 - Section on Science, Knowledge, and Technology Refereed Roundtable Session and Business Meeting
  In Refereed Roundtable 60min: Table 04.

Abstract

This paper examines how ideas about cancer genetic risk are constructed and communicated by genetics experts in the United States. Genetic testing for breast and ovarian cancer (BOC) in the U.S. has recently undergone dramatic changes. Before, patients were typically tested for mutations on two genes that are associated with a high lifetime risk of developing cancer. Now, patients are frequently tested for mutations on 30 or more genes, many of which pose only a low or moderate cancer risk. These multi-gene panels complicate patient-provider communication and people’s risk management decisions because there is more information to interpret, explain, and understand. Expanded screenings also frequently identify mutations with unknown risk, and experts disagree about whether and how these uncertain results, which often turn out to be benign, should be reported to patients.

Prior research on BOC genetic risk has mostly had a narrow, clinical focus. Studies have assessed barriers to people’s use of genetic testing, their comprehension of genetic information, or their compliance with risk management recommendations. Instead, this research brings science and technology studies frameworks to the study of BOC genetic risk. Drawing on ethnographic data collected as a participant observer at several scientific and lay meetings on BOC genetics, I explore two questions: How is BOC genetic risk made visible in the era of multi-gene panel testing? How are relationships among laboratory researchers, clinicians, counselors, and clients being transformed by multi-gene tests? This analysis contributes to sociological and science studies literatures on medicalization, risk, embodiment, and health citizenship.

Author

• Ronna Popkin, Columbia University