Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening

Area of Science:

• Cardiovascular Genetics
• Medical Diagnostics

Background:

• Genetic testing (GT) is indicated for inherited cardiomyopathy (CM) but is underutilized.
• Understanding current utilization patterns and outcomes is crucial for improving CM diagnosis and management.

Purpose of the Study:

• To evaluate the utilization, yield, and outcomes of outpatient genetic testing for cardiomyopathy.
• To identify patterns in ordering providers, patient demographics, and phenotypes.

Main Methods:

• A single-center retrospective study of 306 patients with CM who underwent outpatient GT from 2018 to 2023.
• Data were collected from medical records, including provider type, patient demographics, phenotypes, and test results.

Main Results:

• Heart failure cardiologists in tertiary clinics were the primary prescribers of GT.
• Positive test results were found in 17% of patients, with a higher yield in those with a positive family history.
• Cascade screening rates were low (40%) following positive genetic testing, potentially linked to underutilization of genetic counselors (17%).

Conclusions:

• Outpatient GT for CM is predominantly ordered by specialists in tertiary care settings.
• Low cascade screening rates highlight a gap in care, possibly due to limited genetic counselor involvement.
• Further investigation into implementation barriers for genetic testing in cardiomyopathy is warranted.