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Updated: Jun 1, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Clinical implications of direct-to-consumer genetic testing for cardiovascular disease risk
Stephanie E A Austin1, Robert A Hegele
1Schulich School of Medicine and Dentistry and Robarts Research Institute, University of Western Ontario, London, Ontario, Canada.
Abstract:
Direct-to-consumer (DTC) genetic testing for cardiovascular disease (CVD) is becoming increasingly accessible due to technological advances, falling prices, and assertive marketing. However, information to guide physicians and patients on how to interpret or react clinically to DTC genetic test results is scarce. We report the case of a 52-year-old man with a family history of CVD who had DTC genetic testing performed. We discuss selected results and interpretation of this testing and the outcome of subsequent lifestyle interventions. Despite the information this new technology seemed to provide, traditional advice on lifestyle modification was central to his management.
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