Real-World Practice Patterns Reveal <1% Adoption of Recommended Genetic Testing for Inherited Cardiomyopathies

Funding for the study was provided by Illumina, Inc. Mauro Longoni and Sucheta Bhatt are employees of Illumina, Inc. Andrew Ward, Kanchan Bhasin, Donghyun Lee, and Rajesh Dash are affiliated with HealthPals, Inc. Preventive Cardiology Best Practices Real-world data (RWD) increasingly plays a role in understanding healthcare delivery providing clinical insights from community-level clinical practice. Electronic Health Record (EHR) datasets have the advantage of including a large sample of patients and representing clinical practice that is not limited to tertiary care settings but extends to ambulatory/outpatient primary care. We sought to characterize patient characteristics and utilization of healthcare resources for two genetic cardiomyopathies encountered in clinical practice, hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). We conducted a retrospective analysis of the Veradigm Health Insights Ambulatory Electronic Health Record (HIAE) Research Database using the HealthPals Clinical Intelligence (CLINT) analysis platform. The analysis included over 18,000 primary care practices and 1,500 cardiology practices composed of over 250,000 clinicians, serving over 170 million patients. HCM/DCM diagnoses were based on ICD-10-CM codes or structured EHR text fields. New diagnoses were identified by requiring a one-year wash-in time free of HCM/DCM diagnosis. Cohorts were characterized across demographics, clinical measurements, provider visits, and 32 cardiovascular and metabolic baseline comorbidities. Medical utilization patterns were identified for primary care, cardiology, non-cardiology, and genetics specialties. We identified 22,254 patients with a new diagnosis of HCM and 69,331 with a new diagnosis of DCM. The HCM cohort had a median age of 67 (IQR: 57-76) years and was 53% female; the DCM cohort had a median age of 70 (IQR: 60-78) and was 37% female. Heart failure was present at baseline in 19% of HCM and 54% of DCM cases. Diabetes mellitus, hypertension, hyperlipidemia, and obesity were highly prevalent in both groups (table 1). Few individuals were documented as having received guideline-recommended cardiomyopathy-specific genetic testing, screening, counseling, or referrals to genetic counselors in their EHR records. RWD provided insights on the clinical characteristics associated with new HCM and DCM diagnoses. We documented an underutilization of genetic testing and evaluation despite guideline recommendations. Future work should explore how genetic testing impacts further downstream management and clinical outcomes.