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New genetic testing guidance for inherited heart diseases urges early assessment, counseling

Heart Rhythm
Reuters Health - 11/04/2022 - 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.

Once a genetic cause is identified in the patient, family members, including children, can be screened, according to the statement, which outlines the conditions that warrant genetic testing of relatives. In long QT syndrome, for example, family members should be tested.

As Drs. Wilde and Kaufman noted, the document states that genetic counseling is essential and should start even before clinical and genetic testing. A diagnosis can be life-changing, and as the statement notes, it "may provoke significant anxiety or aggressive treatment."

The chapter on congenital heart disease also provides detailed advice on genetic testing in pregnant women and offspring, which Dr. Wilde characterized in a press statement as "a rapidly moving field."

Other areas addressed in the statement include different methods of genetic testing, choice of tests, interpretation of variants and a look at future directions.

Dr. Kiran Musunuru of the University of Pennsylvania commented on the new consensus statement in an email to Reuters Health. Dr. Musunuru is the scientific director of the Penn Center for Inherited Cardiovascular Disease and director of the Genetic and Epigenetic Origins of Disease Program at the Cardiovascular Institute at the Perelman School of Medicine. He chaired the committee responsible for the American Heart Association's Scientific Statement, "Genetic Testing for Inherited Cardiovascular Diseases" (https://bit.ly/37D1fBA).

"The AHA's scientific statement from 2020 is a concise, high-level overview of issues related to genetic testing, accessible to general practitioners who do not have much background in genetics," Dr. Musunuru said, "whereas the new statement goes into granular details with respect to a variety of individual disease states."

"The difference in scope notwithstanding," he added, "the two documents are extremely consistent in their messages regarding the appropriate use of genetic testing for people with clinically diagnosed or suspected inherited cardiac diseases - and their family members - as well as the essential role of genetic counseling in all cases."

"An important area of active research is the contribution that a collection of genes - a polygenic risk score - contributes to common diseases like coronary artery disease," he said. "The two documents agree that it is premature to be applying polygenic risk scores in clinical practice."

"The new statement is a welcome addition and, together with the AHA scientific statement, they are invaluable resources to all practitioners who care for people with inherited cardiac diseases," Dr. Musunuru concluded.

SOURCE: https://bit.ly/3riU4FH Heart Rhythm, online April 4, 2022.

By Marilynn Larkin

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