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Expert consensus on genetic testing

The state of genetic testing for potentially heritable channelopathies and cardiomyopathies is the focus of an international consensus statement published recently in Europace.1

The document summarises opinions from the international writing group members based on their own experience and on a general review of the literature, focusing primarily on the state of genetic testing for the 13 distinct entities detailed and the relative diagnostic, prognostic, and therapeutic impact of the genetic test result for each entity.

It does not focus on the therapeutic management of the various channelopathies and cardiomyopathies. Treatment/management issues are only discussed for those diseases (i.e., LQTS, HCM, DCM + CCD, RCM) in which the genetic test result could potentially influence treatment considerations.

The recommendations seek to define the criteria used to rank the strength of recommendation for genetic diseases.  The most obvious difference is that randomised and/or blinded studies do not exist. Instead, most of the available data are derived from registries that have followed patients and recorded outcome information.

The authors of this statement have therefore defined specific criteria for Class I, Class IIa or b, and Class III recommendations and have used the conventional language adopted by AHA/ACC/ESC Guidelines to express each class. All recommendations are level of evidence (LOE) C (i.e., based on experts’ opinions).

A Class I recommendation (“is recommended”) was applied for genetic testing in index cases with a sound clinical suspicion for the presence of a channelopathy or a cardiomyopathy when the positive predictive value of a genetic test is high, AND/OR when the genetic test result provides either diagnostic or prognostic information, or when the genetic test result influences therapeutic choices.

In all the remaining situations, the authors have used either “can be useful” to articulate either a Class IIa recommendation or “may be considered” to signify a Class IIb recommendation. A Class III (“should not” or “is not recommended”) recommendation was applied in cases in which it was agreed that the genetic test result failed to provide any additional benefit or could be harmful in the diagnostic evaluation of patients with possible inherited heart disease.

Screening of family members for the mutation identified in the proband of the family is recommended as a Class I when genetic testing leads to the adoption of therapy/protective measures/lifestyle adaptations. Conversely, the authors have assigned a Class IIa recommendation when results of genetic testing are not associated with the use of therapeutic or protective measures but the results may be useful for reproductive counseling or instances in which genetic testing is requested by the patient who wants to know his/her mutation status.

When using or considering the guidance from this document, it is important to remember that there are no absolutes governing many clinical situations. The final judgment regarding care of a particular patient must be made by the health care provider and the patient in light of all relevant circumstances. Recommendations are based on consensus of the writing group following the Heart Rhythm Society’s established consensus process. It is recognised that consensus does not mean unanimous agreement among all writing group members. We identified those aspects of genetic testing for which a true consensus could be found.

Surveys of the entire writing group were used. The authors received an agreement that was equal to or greater than 84% on all recommendations; most recommendations received agreement of 94% or higher. This statement is directed to all healthcare professionals who are involved with genetic testing for the channelopathies and cardiomyopathies. All members of this document-writing group provided disclosure statements of all relationships that might present real or perceptible conflicts of interest. Disclosures for the members of the task force are published in the Appendix section.


1 Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies.  Developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 2011;13:1077-109. doi: 10.1093/europace/eur245.

Published on: December 1, 2011

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