Assessing Genetic Testing in Adult Congenital Heart Disease: Current State and Patient Perspectives

Area of Science:

• Cardiovascular Genetics
• Medical Genetics
• Congenital Heart Disease Research

Background:

• Genetic variation significantly impacts congenital heart disease (CHD) outcomes and family planning.
• Current genetic testing guidelines primarily target pediatric CHD patients, leaving adult CHD (ACHD) patients underserved.
• The landscape of genetic testing and patient perceptions in ACHD populations remains largely unexplored.

Purpose of the Study:

• To investigate the current utilization of genetic testing among adult congenital heart disease (ACHD) patients.
• To assess ACHD patients' perceptions and interest in genetic testing.
• To identify barriers to genetic testing adoption in the ACHD population.

Main Methods:

• A prospective cohort survey was conducted over 12 months in a large ACHD clinic.
• 336 ACHD patients (≥18 years) completed surveys assessing demographics, CHD history, prior genetic testing, and interest in testing.
• Eligibility for genetic testing was evaluated against current pediatric guidelines.

Main Results:

• Most surveyed ACHD patients (68%) desired genetic testing, with interest varying by sex, education, and family status.
• Only 13% reported prior genetic testing, despite 41%-98% meeting criteria based on pediatric guidelines.
• Conotruncal and left ventricular outflow tract lesions were the most common CHD types; most patients lacked children or a family history of CHD.

Conclusions:

• A significant gap exists between genetic testing eligibility and utilization in ACHD patients, potentially due to birth era and lack of specific guidelines.
• Patient interest in genetic testing is substantial, underscoring the need for tailored recommendations.
• Developing broad genetic testing guidelines for ACHD is crucial to improve access and utilization.