New Genetic Testing Guidance for Inherited Heart Diseases Urges Early Assessment, Counseling

New Genetic Testing Guidance for Inherited Heart Diseases Urges Early Assessment, Counseling

By Marilynn Larkin

April 12, 2022

NEW YORK (Reuters Health) - An international consensus statement on genetic testing for cardiac diseases focuses on inherited disorders and advises that genetic counseling is "essential" and should start prior to testing.

"This is now the reference document that all clinicians should use to decide whether genetic testing is indicated for patients with inherited cardiac diseases and their relatives," Dr. Arthur Wilde of Amsterdam University Medical Center and Dr. Elizabeth Kaufman of Metro Health Medical Center, Case Western Reserve University in Cleveland told Reuters Health by email.

"We believe the key recommendation is that for the different disease entities, genetic testing should be limited to genes with robust evidence for causality - that is, genes with definitive or strong evidence (and in special circumstances, moderate evidence)," they said. "Also, it is strongly recommended that genetic testing (not be) performed without appropriate genetic counseling."

The consensus was developed by a writing committee that included representatives from the European Heart Rhythm Association (EHRA); the Heart Rhythm Society (HRS); the Asia Pacific Heart Rhythm Society (APHRS); and the Latin American Heart Rhythm Society (LAHRS).

The statement is published in Heart Rhythm, Journal of Arrhythmia, and Journal of Interventional Cardiac Electrophysiology. It provides recommendations on genetic testing for four groups of heart conditions caused by genetic defects: inherited arrhythmia syndromes, cardiomyopathies, sudden cardiac death or unexplained cardiac arrest, and congenital heart disease.

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