A Person-Centered Approach to Cardiovascular Genetic Testing
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Updated: Jan 6, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
1Stanford Center for Inherited Cardiovascular Disease, Falk Cardiovascular Research Center, Stanford, California 94305, USA.
Abstract:
Cardiovascular genetic counselors provide guidance to people facing the reality or prospect of inherited cardiovascular conditions. Key activities in this role include discussing clinical cardiac screening for at-risk family members and offering genetic testing. Psychological factors often influence whether patients choose to have genetic testing and how they understand and communicate the results to at-risk relatives, so psychological counseling increases the impact of genetic education and medical recommendations. This work reviews the literature on the factors that influence patient decisions about cardiovascular genetic testing and the psychological impact of results on people who opt to test. It also models use of a psychological framework to apply themes from the literature to routine cardiovascular genetic counseling practice. Modifications of the framework are provided to show how it can be adapted to serve the needs of both new and experienced genetic counselors.
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