Abstract 14922: Cardiovascular Genetic Testing: Insights Into Patient Demographics, Provider Characteristics, and Indications

Abstract

Introduction: Genetic testing offers the opportunity for early diagnosis of cardiovascular disease (CVD). Despite guideline recommendations, genetic testing is vastly underutilized in CVD. Methods: This single-center, retrospective study included CVD patients who underwent outpatient genetic testing, using Invitae kits, at UCSD Sulpizio Cardiovascular Center from September 2018 to February 2023. Patient demographics, provider characteristics, indications for testing, genetic testing data, and genetic counselor referrals were collected. Results: A total of 374 patients were included with a median age of 57 years. Patients were predominantly male (58.6%) and Caucasian (64.7%). Prevalence of genetic testing increased yearly from 2019 (n = 51) to 2022 (n = 142). The most common indication for genetic testing was cardiomyopathy (76.7%) followed by aortopathy (13.6%) and hyperlipidemia (5.3%). Heart failure (71.3%) providers were most likely to order genetic testing followed by adult congenital (14.4%) providers (Figure 1). There were 79 (21.1%) patients who had either a pathogenic (P) or likely pathogenic (LP) mutation, 166 (44.4%) patients who had a variant of uncertain significance, and 44 (55.7%) patients who had more than one gene mutation present. The most common genes implicated were those that cause cardiomyopathy, MYBC3 (n = 9) and TTR (n= 9). For patients who had either a P or LP mutation, 59.5% of them were referred to a genetic counselor and only 36.7% were actually seen by one. Conclusion: In this study, the prevalence of outpatient genetic testing for CVD is increasing with a significant proportion ordered by heart failure physicians for cardiomyopathy. Of the patients who tested positive, less than half received genetic counseling. These data suggest an opportunity for research focused on improving access to and patient acceptance of genetic counseling. As genetic testing becomes more prevalent, genetic counseling should increase in parallel.