Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes.

Circulation. Genomic and Precision Medicine
Reka D MullerDeborah Cragun

Abstract

Increasing use of genetic tests have identified many variants of uncertain significance (VUS) in genes associated with inherited arrhythmias and cardiomyopathies. Evaluation of clinical practices, including medical management recommendations for VUS patients and their families, is important to prevent over- or under-treatment that may result in morbidity or mortality. The purpose of this study is to describe practices related to VUS results including information and medical management recommendations providers give patients and their families. An anonymous online survey was distributed to genetic counselors (GCs) and cardiologists who have seen at least one patient for inherited arrhythmias or cardiomyopathies. The survey explored providers' confidence in counseling, explanation of VUSs, topics covered before and after genetic testing, and clinical recommendations using a hypothetical scenario maximizing uncertainty with an unclear clinical and molecular diagnosis. Descriptive statistics were calculated, and median confidence and likelihood of making various medical recommendations were compared across provider type. Providers (N=102) who completed the survey included 29 cardiovascular GCs, 50 GCs from other specialties, and 23...Continue Reading

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Citations

Jan 26, 2021·Current Opinion in Lipidology·Emily E Brown
Mar 4, 2021·Journal of Personalized Medicine·Marta Vallverdú-PratsOscar Campuzano
Aug 17, 2021·Frontiers in Pediatrics·Georgia Sarquella-BrugadaOscar Campuzano
Sep 22, 2021·Human Genetics·Georgia Sarquella-BrugadaOscar Campuzano

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