HRS and EHRA Release Expert Consensus Statement

HRS and EHRA Release Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies
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Genetic testing is increasingly important in determining potential cardiac conditions in patients and is used in clinical settings more than ever before. To ensure that physicians have up-to-date knowledge of the evolving role of genetic testing for sudden death predisposing, genetic heart diseases in cardiology, which can be life-saving for some patients, the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA) have prepared HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies, published in the August 2011 issue of HeartRhythm Journal and the August issue of Europace.

“With the significant complexities of genetic testing present today, it is essential that heart rhythm specialists specifically and cardiologists in general address and bridge any knowledge gaps that may exist with respect to genetic testing for heritable heart diseases,” said co-lead author of the statement Michael J. Ackerman, MD, Ph.D., of the Mayo Clinic in Rochester, Minn. “As genetic testing evolves, we must continue to develop and recognize the appropriate clinical applications to ensure the best possible patient care.”

HRS and EHRA formed an international writing group in order to evaluate the use and role of genetic testing for potentially heritable cardiac conditions, based on the analysis of literature and their own experience in treating patients. The statement focuses primarily on the state of genetic testing for 13 distinct entities and the relative diagnostic, prognostic and therapeutic impact of the genetic test result for each entity. The statement is directed to all health care professionals who are involved with genetic testing for channelopathies and cardiomyopathies.

It is important to note that it is ultimately the health care provider who must consider all circumstances presented by a patient in determining diagnoses and care, as there are no absolutes in clinical situations. Genetic testing for heart diseases is just one component of a comprehensive cardio-genetic evaluation. With these considerations in mind, the international writing group developed the following overarching recommendations on the state of genetic testing for heritable cardiac conditions:

Genetic counseling is recommended for all patients and relatives with the familial heart diseases detailed in the document and should include discussion of the risks, benefits and options available for clinical testing and/or genetic testing.
Treatment decisions should not rely solely on his/her genetic test result but should be based on an individuals’ comprehensive clinical evaluation.
It can be useful for pre-genetic test counseling, genetic testing, and the interpretation of genetic test results to be performed in centers experienced in the genetic evaluation and family-based management of the heritable arrhythmia syndromes and cardiomyopathies described in the document.

Primary recommendations were considered when evaluating the state of genetic testing for each of the 13 heritable cardiac conditions discussed in the document, including Long QT Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Brugada Syndrome, Progressive Cardiac Conduction Disease, Short QT Syndrome, Atrial Fibrillation, Hypertrophic Cardiomyopathy, Arrhythmogenic Cardiomyopathy/Arrhythmogenic Right Ventricular Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Noncompaction and Restrictive Cardiomyopathy. The document includes guidance on the use and role of genetic testing for out-of-hospital cardiac arrest survivors and post-mortem testing in sudden unexpected death cases.

“Genetic testing cannot be viewed as a one-size fits all solution, but should be considered for each disease state,” said co-lead author of the statement Silvia G. Priori, MD, Ph.D., of Fondazione Salvatore Maugeri University in Pavia, Italy. “The recommendations outlined in this document can and should be used as guidance on how each potential disease is evaluated with respect to genetic testing, keeping in mind that each patient is different.”