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Genetic & Genomic MedicinemedRxiv
Preprint

Identifying barriers to genetic testing in subspecialty cardiac care

Sierra PondiD, Genevie Echols, Martin Tristani‐FirouziiD, Susan P. EtheridgeiD, Hannah S. AndersoniD, Briana L. SawyeriD

Abstract

BackgroundThe utility of genetic testing in cardiovascular medicine is well-established in expert consensus statements for optimizing patient care. However, significant genetic testing care gaps persist for patients with inherited cardiovascular conditions. ObjectiveThis study aimed to understand why genetic testing care gaps in cardiovascular medicine exist by evaluating cardiovascular providers opinions and use of genetic testing. MethodsWe developed and administered an anonymous survey to cardiovascular providers delivering direct patient care in the United States. Participants were contacted in collaboration with the Sudden Arrhythmia Death Syndromes (SADS) Foundation. ResultsA total of 111 individuals completed the survey representing the following specialties: electrophysiology (55%, n=61), general cardiology (10.8%, n=12), imaging (7.2%, n=8), heart failure/transplant (6.3%, n=7), interventional cardiology (6.3%, n=7), fetal cardiology (5.4%, n=6), and other (9%, n=10). Eighty-six percent of respondents (n=97) stated genetic testing is very relevant in the care of their patients. Eighty percent of electrophysiologists reported ordering genetic testing a few times a month or more. Navigating insurance authorization and billing procedures was an identified area of discomfort by 47.7% of respondents (n=53). Overall, cardiovascular provider specialty was shown to impact how often genetic testing is ordered. Provider work setting was shown to impact opinion of the utility of genetic testing for family screening, opinion of the utility of genetic testing for medication and device management, and how often genetic testing is ordered. ConclusionsThe results of this study support targeted provider education to increase the uptake of genetic testing for patients with inherited cardiovascular conditions.

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