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引用次数: 0
摘要
基因检测和咨询已成为离子通道疾病诊断工作和风险分层的基本组成部分。不同疾病的诊断率各不相同。对于最常见的疾病,启动基因检测和咨询的建议等级为 I 级。德国基因诊断法详细规定了基因诊断的所有步骤。在临床实践中,协调不同级别的临床指导和基因诊断与检测是一项后勤挑战。人类遗传学家必须参与这一程序。对于预测性基因检测,在检测开始前和获得结果后,必须进行人类遗传咨询。至于基因变异与心律失常表型的因果关系,则要进行反复验证,以避免误读和过度诊断。
[Genetic testing in daily clinical practice according to the guidelines : How do we proceed?]
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.
期刊介绍:
Mit wissenschaftlichen Original- und Übersichtsarbeiten, Berichten über moderne Operationstechniken und experimentelle Methoden ist die Zeitschrift Herzschrittmachertherapie + Elektrophysiologie ein Diskussionsforum für Themen wie:
- Zelluläre Elektrophysiologie
- Theoretische Elektrophysiologie
- Klinische Elektrophysiologie
- Angewandte Herzschrittmachertherapie
- Bradykarde und tachykarde Herzrhythmusstörungen
- Plötzlicher Herztod und Risikostratifikation
- Elektrokardiographie
- Elektromedizinische Technologie
- Experimentelle und klinische Pharmakologie
- Herzchirurgie bei Herzrhythmusstörungen
Mitteilungen der Arbeitsgruppen Herzschrittmacher und Arrhythmie der Deutschen Gesellschaft für Kardiologie - Herz und Kreislaufforschung e.V. (DGK) sowie Stellungnahmen und praktische Hinweise runden das breite Spektrum dieser Zeitschrift ab.
Interessensgebiete: Kardiologie, Herzschrittmachertherapie, Herzschrittmachertechnologie, klinische Elektrophysiologie