Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease

Published: March 27, 2023

senior woman preparing dna test kit
  • Genetic technologies are rapidly advancing, expanding the use of exome and genome sequencing in diagnostics, research, and by consumers, leading to incidental identification of genetic variants important to cardiovascular disease.
  • Guidance is needed for the clinicians who evaluate patients with incidentally identified genetic variants in monogenic cardiovascular disease genes and to assist them in the interpretation of variants and providing appropriate clinical care.
  • This scientific statement describes a framework through which clinicians can assess the pathogenicity of an incidental variant, clinically evaluate the patient and their family, and provide ongoing support as part of a multidisciplinary care team.

Interpreting Incidentally Identified Variants in Genes Associated with Heritable Cardiac Disease

In this discussion, Dr. Svati Shah, a cardiologist at Duke University and former chair of the American Heart Association Genomic and Precision Medicine Committee, sits down with Dr. Andrew Landstrom and Dr. Anwar Chahal to explore the rapidly advancing field of consumer genetic testing and provide guidance to clinicians whose patients may come to them with a report of incidentally identified variants that may impact their CVD risk. They converse about the challenges posed by the identification of genetic variants outside of the clinical setting, and how to interpret these variants. They further deliberate on setting a framework for evaluating the pathogenicity of variants, and ongoing patient care. The video serves as an essential resource for clinicians, scientists, and interested viewers wanting to understand the complexities of helping patients who come to them with these genetic test results.