[Genetic testing in daily clinical practice according to the guidelines : How do we proceed?] / Gendiagnostik im klinischen Alltag nach Vorgabe der Leitlinien : Wie gehen wir vor?

ABSTRACT

Genetic testing and counselling has become a fundamental part of the diagnostic work-up and risk stratification in ion channel diseases. The diagnostic yield varies among the different entities. For the most common diseases, there is a class I recommendation for the initiation of genetic testing and counseling. The German law for genetic diagnostics defines all steps of the pathway in detail. In clinical practice, coordination of the different levels of clinical guidance and genetic diagnostics and testing poses a logistic challenge. Involving human geneticists in the procedure is mandatory. For predictive genetic testing, human genetic counseling is mandatory before initiation of the testing and after obtaining the results. As far as causality of genetic variants for the arrhythmic phenotypes is concerned, repeated curations are undertaken to avoid misinterpretation and overdiagnosis.