Reka D Muller1, Thomas McDonald2, Kathleen Pope3, Deborah Cragun3. 1. College of Medicine, Department of Obstetrics and Gynecology (R.D.M.), University of South Florida, Tampa, FL. 2. College of Medicine, Department of Cardiovascular Sciences (T.M.), University of South Florida, Tampa, FL. 3. College of Public Health (K.P., D.C.), University of South Florida, Tampa, FL.
Abstract
BACKGROUND: 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. METHODS: 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. RESULTS: Providers (N=102) who completed the survey included 29 cardiovascular GCs, 50 GCs from other specialties, and 23 cardiologists. GCs feel more confident than cardiologists counseling about VUS results (P<0.001); while both cardiovascular GCs and cardiologists feel more confident than other GCs in providing input regarding medical management recommendations (P=0.001 and P=0.01, respectively). Cardiologists were more likely than cardiac GCs to recommend clinical testing for family members even though testing in the scenario is expected to be uninformative. CONCLUSIONS: These findings illustrate how the expertise of different providers may impact decision processes, suggesting the need for interdisciplinary clinics to optimize care for challenging cases.
BACKGROUND: 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. METHODS: 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. RESULTS: Providers (N=102) who completed the survey included 29 cardiovascular GCs, 50 GCs from other specialties, and 23 cardiologists. GCs feel more confident than cardiologists counseling about VUS results (P<0.001); while both cardiovascular GCs and cardiologists feel more confident than other GCs in providing input regarding medical management recommendations (P=0.001 and P=0.01, respectively). Cardiologists were more likely than cardiac GCs to recommend clinical testing for family members even though testing in the scenario is expected to be uninformative. CONCLUSIONS: These findings illustrate how the expertise of different providers may impact decision processes, suggesting the need for interdisciplinary clinics to optimize care for challenging cases.
Authors: Marta Vallverdú-Prats; Mireia Alcalde; Georgia Sarquella-Brugada; Sergi Cesar; Elena Arbelo; Anna Fernandez-Falgueras; Mónica Coll; Alexandra Pérez-Serra; Marta Puigmulé; Anna Iglesias; Victoria Fiol; Carles Ferrer-Costa; Bernat Del Olmo; Ferran Picó; Laura Lopez; Paloma Jordà; Ana García-Álvarez; Coloma Tirón de Llano; Rocío Toro; Simone Grassi; Antonio Oliva; Josep Brugada; Ramon Brugada; Oscar Campuzano Journal: J Pers Med Date: 2021-02-26
Authors: Ramon Brugada; Oscar Campuzano; Georgia Sarquella-Brugada; Anna Fernandez-Falgueras; Sergi Cesar; Elena Arbelo; Mónica Coll; Alexandra Perez-Serra; Marta Puigmulé; Anna Iglesias; Mireia Alcalde; Marta Vallverdú-Prats; Victoria Fiol; Carles Ferrer-Costa; Bernat Del Olmo; Ferran Picó; Laura Lopez; Ana García-Alvarez; Paloma Jordà; Coloma Tiron de Llano; Rocío Toro; Simone Grassi; Antonio Oliva; Josep Brugada Journal: Hum Genet Date: 2021-09-21 Impact factor: 5.881