[Genetic testing in daily clinical practice according to the guidelines : How do we proceed?]

Q4 Medicine Herzschrittmachertherapie und Elektrophysiologie Pub Date : 2024-03-01 Epub Date: 2024-01-05 DOI:10.1007/s00399-023-00988-7
Christian Wolpert
{"title":"[Genetic testing in daily clinical practice according to the guidelines : How do we proceed?]","authors":"Christian Wolpert","doi":"10.1007/s00399-023-00988-7","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":52403,"journal":{"name":"Herzschrittmachertherapie und Elektrophysiologie","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Herzschrittmachertherapie und Elektrophysiologie","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s00399-023-00988-7","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/5 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

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.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
[根据指南在日常临床实践中进行基因检测:我们该如何进行?]
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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Herzschrittmachertherapie und Elektrophysiologie
Herzschrittmachertherapie und Elektrophysiologie Medicine-Cardiology and Cardiovascular Medicine
CiteScore
1.10
自引率
0.00%
发文量
76
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
期刊最新文献
[Controversies in rhythmology]. [Atrial fibrillation in combination with severe mitral regurgitation : Which should be treated first, the atrial fibrillation or the mitral valve?] [Initial ablation of atrial fibrillation-Is pulmonary vein isolation sufficient? : Pro and contra]. [(LV)EF is a poor predictor of sudden cardiac death : Pro/Contra]. Erratum zu: Herzrhythmusstörungen bei Erwachsenen mit angeborenen Herzfehlern.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1