Abstract 10555: Genetic Testing Underutilization in Patients with Cardiomyopathy: A Real-World Data Analysis

Introduction: Professional guidelines support genetic testing (GT) for dilated, hypertrophic, restrictive, arrhythmogenic, and peripartum cardiomyopathy to confirm a diagnosis, guide management, enable clinical trials, and/or allow more informed genetic counseling. Analysis of de-identified data from a commercial laboratory showed that 1 in 4 individuals who had cardiomyopathy GT billed to a national health insurer had a positive result; however, which patients undergo GT is largely unknown. Hypothesis: GT is underutilized in patients with genetic cardiomyopathy. Methods: A retrospective analysis was conducted using commercial and Medicare claims data from the UnitedHealth Group Clinical Discovery Database. The GT-cohort (index: GT dates 1/1/2017-12/31/2020) included patients with 12-months pre-index data including ≥1 ICD-10 codes associated with genetic or unspecified cardiomyopathy and GT Current Procedural Terminology (CPT) code(s). The non-GT cohort (index: outpatient visit dates 1/1/2017-12/31/2020 with 12-month pre-index data) had the same ICD codes, but no GT CPT code. Individuals with a personal and/or family history of cancer were excluded to avoid patients who had GT for cancer. Multivariable logistic regression analysis was performed to examine factors associated with GT. Results: Of 300,127 patients with cardiomyopathy, 3,287 (1.1%) had a GT CPT code. Factors that predicted a higher likelihood of GT (p < 0.05) included being younger, living in an area with a higher education level, commercial insurance, no diagnosis of diabetes or myocardial infarction, diagnosis of mild liver disease, a higher number of outpatient medical and cardiology visits, cardiac-related hospitalizations (shorter length-of-stay), a higher number of 30-day all-cause readmissions, a higher number of cardiomyopathy diagnoses, and except for peripartum, all genetic cardiomyopathy types. Conclusions: Only 1.1% of patients with a cardiomyopathy ICD code had a GT claim. Considering a potential 25% testing yield, a larger portion could have benefited from a genetics guided diagnosis. More research is needed to investigate barriers related to GT and improve our ability to identify those who could benefit from cardiomyopathy genetic testing.