The Perceived Utility of Genetic Information in the Management of Inherited Cardiovascular Disease

• In Event: 2261 - Current Issues in Health Policy

Abstract

In modern medicine, health risks are generally managed through the collection of information and subsequent intervention (Clarke et al. 2003). One of the goals of clinical genetics, for example, is to identify genetic predisposition to disease so that individuals can intervene to prevent potential harms. But recently, some clinicians have suggested that patients should undergo less testing and monitoring in an effort to reduce overdiagnosis and overtreatment (Cassel and Guest 2012). In this paper, I explore how clinicians navigate the tension between identifying real disease risks for their patients with concerns about overdiagnosis. I focus on clinicians ordering genetic testing for inherited cardiovascular diseases. Of the genes determined to be “clinically actionable” by the American College of Medical Genetics and Genomics (ACMG), half are related to cardiovascular diseases. But, due in part to high levels of uncertainty surrounding cardiovascular genetics, there is still disagreement within the field about how to order and interpret these tests. Based on semi-structured, in-depth interviews with 20 clinicians who order genetic testing for cardiovascular diseases, I find that there is considerable variability in the ways that clinicians determine which types of genetic tests are appropriate for their patients and how they interpret test results. Variability is particularly high when considering patients with no physical symptoms of disease. Most importantly, I find that many providers do not presume that more genetic information will lead to better care. Instead, increased information can lead to confusion and inappropriate treatment. This re-valuation of the utility of medical information is crucial for medical sociologists to explore, especially as medical fields are working to make sense of increasing amounts of data.

Author

• Kellie Owens, University of Pennsylvania