How To: Perform a Cardiac Genetic Evaluation in Cardiomyopathy

Genetic testing has become an essential component of the evaluation and management of patients with cardiomyopathies. Despite guideline recommendations and growing therapeutic implications, genetic testing remains underutilized in routine cardiovascular practice due to implementation barriers, including uncertainty about when to test, how to order testing, how to counsel patients, and how to interpret results. This interactive workshop will provide a practical, step-by-step approach to conducting a comprehensive cardiac genetic evaluation in patients with cardiomyopathy.

Agenda

• Welcome and Overview of Genetic Testing in Cardiomyopathy (10-Minutes)
• 10-Minute Station Rotations
  • Station 1: How to Order Genetic Testing
  • Station 2: Basic Principles of Pre-Test Genetic Counseling
  • Station 3: How to Interpret a Genetic Testing Report
  • Station 4: Educating Patients About Gene Therapy and Referring to Precision Clinical Trials
• Panel Discussion (10-Minutes)

Learning Objectives

• Identify appropriate candidates for genetic testing among patients with cardiomyopathies, including hypertrophic, dilated, arrhythmogenic, and infiltrative cardiomyopathies.
• Implement a practical workflow for ordering genetic testing in cardiology practice, including test selection, specimen collection, and navigating insurance or laboratory processes.
• Conduct concise and effective pre-test genetic counseling that prepares patients for potential results and addresses inheritance, family implications, and privacy considerations.
• Interpret genetic testing reports by distinguishing pathogenic variants, variants of uncertain significance, and negative results, and applying these findings to clinical decision-making.
• Translate genetic results into clinical action, including patient education about emerging gene-targeted therapies and referral to appropriate precision medicine clinical trials.