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International Heart Rhythm Societies Set Out Recommendations on Genetic Testing for Cardiac Diseases

NEW YORK – Four international associations focusing on heart rhythm disturbances have published a consensus statement regarding how to best use genetics to test for inherited cardiac diseases.

The 61-page document was authored by representatives of the European Heart Rhythm Association (EHRA), a branch of the European Society of Cardiology; the Washington, D.C.-based Heart Rhythm Society; the Asia Pacific Heart Rhythm Society; and the Latin American Heart Rhythm Society.

It was published online on Monday in multiple publications, among them the journals EP Europace and Heart Rhythm. The guidance is also being discussed in a session at EHRA's conference in Copenhagen, Denmark, this week.

Arthur Wilde, lead author of the statement and a professor of cardiology at Amsterdam Medical Centers in the Netherlands, commented via email that the information contained in the consensus statement should help to guide decision-making around genetic testing for cardiac conditions.

"Genetic testing in patients with an inherited cardiac disease helps clinicians to make a precise diagnosis, provides information about prognosis, and determines the treatment," Wilde said. "After more than 10 years, 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."

Wilde noted that the production of the statement had been a group effort between the associations involved. Their purpose was to update recommendations related to genetic testing that were published in 2011. As they noted in the statement, genetic testing has advanced in the past decade, expanding beyond single-gene testing into whole-exome and whole-genome sequencing. As such, they set out to provide an overview of what tests are out there, which ones to use in what context, and when to perform them.

The resulting statement is divided up into different sections. The first provides background on the genetic influences on cardiac disease and modes of inheritance, while a second details genetic testing methods including multiplex ligation-dependent probe amplification, PCR, SNP genotyping arrays, and whole-genome sequencing. They acknowledged that the application of such techniques "depends on the availability of genomic technology and on regional reimbursement policy."

The authors also discussed polygenic risk scores, which they wrote are "likely to enter the clinical practice landscape and become more widely utilized in the future," but at the moment are still being piloted. "Eventually, PRS may hopefully be able to provide information not only on disease risk but also disease mechanism and therapeutic efficacy," they wrote.

They also discussed the state of genetic testing for inherited arrhythmia syndromes, such as long QT syndrome and atrial fibrillation; different forms of cardiomyopathies; sudden cardiac death of unexplained cardiac arrest; congenital heart disease; coronary artery disease; and heart failure. These sections included criteria on who should be assessed for these diseases, and which genes should be examined.

The authors, in summary, characterized genetic cardiology as a new field, one with known knowledge gaps, but one that will be increasingly important, especially given advancements in gene therapies, such as siRNA therapies or CRISPR-Cas9-based strategies.