Reinhard W, Trenkwalder T, Schunkert H
Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Technische Universität München, Lazarettstr. 36, 80636, München, Deutschland.
Deutsches Zentrum für Herz- Kreislauf-Forschung (DZHK), Partner Site Munich Heart Alliance, München, Deutschland.
Herz. 2017 Aug;42(5):485-491. doi: 10.1007/s00059-017-4571-4.
In the last decade, genetic testing for cardiovascular disorders has become more and more relevant. Progress in molecular genetics has led to new opportunities for diagnostics, improved risk prediction and could lead to novel therapeutic approaches. Genetic diagnostic testing is relevant for both confirming a diagnosis as well as deciding on therapeutic consequences, if applicable. Furthermore, predictive testing in family members for specific cardiovascular diseases is now a standard procedure in holistic patient management. The process of genetic testing as well as documentation requirements and discussion of test results with patients are subject to legal regulations. These regulations might be confusing for clinical practitioners/cardiologists. The aim of this article is to provide a clinical framework for genetic testing. First, we explain the legal and ethical background. Second, we illustrate the process of genetic testing step by step and present updates on remuneration. Finally, we discuss the significance of genetic testing and specific disease indications in cardiology.
在过去十年中，心血管疾病的基因检测变得越来越重要。分子遗传学的进展为诊断带来了新机遇，改善了风险预测，并可能带来新的治疗方法。基因诊断检测对于确诊以及在适用情况下决定治疗结果都具有重要意义。此外，对特定心血管疾病患者家属进行预测性检测现在是整体患者管理中的标准程序。基因检测过程以及文件要求和与患者讨论检测结果都受法律法规约束。这些法规可能会让临床医生/心脏病专家感到困惑。本文旨在提供一个基因检测的临床框架。首先，我们解释法律和伦理背景。其次，我们逐步说明基因检测过程并介绍报酬方面的最新情况。最后，我们讨论基因检测在心脏病学中的意义以及特定疾病指征。
