High risk, mixed reward: Making genetic test results actionable in cardiology

Rebecca Kaufman, Will Schupmann, Stefan Timmermans and Aviad Raz

Social Science & Medicine, 2024, vol. 354, issue C

Abstract: Professional organizations point to the underutilization of genetic testing in cardiology as a lack of genetic literacy. Yet, few studies have examined the interpretive work required from clinicians to make results clinically actionable. Based on interviews with twenty-nine cardiologists, we find that although genetic testing may provide epistemic closure by substantiating a suspected diagnosis at the molecular level, genetic testing often disrupted cardiologists' diagnostic inferential processes. These epistemic disruptions were not intrinsic to a particular genetic result type (positive, negative, or VUS), but arose from reconciling genetic results with the patient's symptoms and medical and family history. Drawing from the sociology of diagnosis and professional expertise, we examine how cardiologists resolved epistemic disruptions by either sidelining or repairing genetic test results. However, such attempts at making genetic test results actionable for diagnosis may not resolve epistemic disruptions. We argue that rather than clinicians lacking individual literacy, the limited uptake of genetic test results reflects a collective problem of gaps in the genetic knowledge base that leads to medical agnosis, or an inability to make sense of a patient's symptoms uncertainty, rather than diagnosis.

Date: 2024
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DOI: 10.1016/j.socscimed.2024.117049

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