Melanie Care1,2, Vijay Chauhan1,3, Danna Spears4,5. 1. Division of Cardiology, Department of Medicine, Peter Munk Cardiac Centre, Toronto General Hospital, University Health Network, 200 Elizabeth St., Toronto, ON, M5G 2C4, Canada. 2. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. 3. Department of Medicine, University of Toronto, Toronto, ON, Canada. 4. Division of Cardiology, Department of Medicine, Peter Munk Cardiac Centre, Toronto General Hospital, University Health Network, 200 Elizabeth St., Toronto, ON, M5G 2C4, Canada. danna.spears@uhn.ca. 5. Department of Medicine, University of Toronto, Toronto, ON, Canada. danna.spears@uhn.ca.
Abstract
PURPOSE OF REVIEW: Genetic testing has become an important element in the care of patients with inherited cardiac conditions (ICCs). The purpose of this review is to provide clinicians with insights into the utility of genetic testing as well as challenges associated with interpreting results. RECENT FINDINGS: Genetic testing may be indicated for individuals who are affected with or who have family histories of various ICCs. Various testing options are available and determining the most appropriate test for any given clinical scenario is key when interpreting results. Newly published guidelines as well as various publicly accessible tools are available to clinicians to help with interpretation of genetic findings; however the subjectivity with respect to variant classification can make accurate assessment challenging. Genetic information can provide highly useful and relevant information for patients, their family members, and their healthcare providers. Given the potential ramifications of variant misclassification, expertise in both clinical phenotyping and molecular genetics is imperative in order to provide accurate diagnosis, management recommendations, and family risk assessment for this patient population.
PURPOSE OF REVIEW: Genetic testing has become an important element in the care of patients with inherited cardiac conditions (ICCs). The purpose of this review is to provide clinicians with insights into the utility of genetic testing as well as challenges associated with interpreting results. RECENT FINDINGS: Genetic testing may be indicated for individuals who are affected with or who have family histories of various ICCs. Various testing options are available and determining the most appropriate test for any given clinical scenario is key when interpreting results. Newly published guidelines as well as various publicly accessible tools are available to clinicians to help with interpretation of genetic findings; however the subjectivity with respect to variant classification can make accurate assessment challenging. Genetic information can provide highly useful and relevant information for patients, their family members, and their healthcare providers. Given the potential ramifications of variant misclassification, expertise in both clinical phenotyping and molecular genetics is imperative in order to provide accurate diagnosis, management recommendations, and family risk assessment for this patient population.
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