2022 EHRA/HRS/APHRS/LAHRS Expert Consensus Statement on the state of genetic testing for cardiac diseases

April 4, 2022—The European Heart Rhythm Association (EHRA), Heart Rhythm Society (HRS), Asia Pacific Heart Rhythm Society (APHRS), and Latin American Heart Rhythm Society (LAHRS) released the 2022 EHRA/HRS/APHRS/LAHRS Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases, providing an updated, comprehensive review of the role of genetic testing in cardiovascular care.

This consensus statement reflects significant advances since prior guidance, including the expansion of next-generation sequencing, whole-exome and whole-genome testing, and the growing role of genetic information in diagnosis, risk stratification, and clinical decision-making.

The document offers practical guidance on when and how to use genetic testing, emphasizing appropriate test selection, interpretation of genetic variants, and the importance of multidisciplinary care teams in managing inherited cardiovascular conditions.

Key areas addressed include:

• Fundamental principles of genetic testing, including inheritance patterns and variant interpretation
• Testing methodologies, from targeted gene panels to whole-genome sequencing
• Clinical applications across a range of cardiovascular conditions, including:
  • Inherited arrhythmia syndromes (e.g., long QT syndrome, Brugada syndrome, CPVT)
  • Cardiomyopathies
  • Sudden cardiac death and unexplained cardiac arrest
  • Congenital heart disease
  • Coronary artery disease and heart failure
• The role of genetic testing in diagnosis, prognosis, and therapeutic decision-making
• Guidance on cascade (family) screening and genetic counseling

In addition, the statement highlights the evolving role of genetic testing in identifying at-risk individuals and improving patient outcomes, while acknowledging ongoing challenges such as variant interpretation and variability in access to testing technologies.

This document serves as a key resource for electrophysiologists, cardiologists, geneticists, and multidisciplinary care teams involved in the evaluation and management of patients with inherited or suspected genetic cardiovascular diseases.