Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?
作者信息
van der Crabben Saskia N, Mörner Stellan, Lundström Anna C, Jonasson Jenni, Bikker Hennie, Amin Ahmad S, Rydberg Annika, Wilde Arthur A M
机构信息
Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
European Reference Network for rare, low-prevalence, or complex diseases of the heart (ERN GUARD-Heart), Amsterdam, the Netherlands.
出版信息
Eur J Hum Genet. 2022 Nov;30(11):1208-1210. doi: 10.1038/s41431-022-01173-z. Epub 2022 Aug 26.
Abstract
摘要
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Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?在心脏遗传学中，意义未明的变异（VUS）是否应该告知患者；还是仅在高度怀疑其致病性的情况下才告知？
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European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases.欧洲心律协会（EHRA）/心律协会（HRS）/亚太心律协会（APHRS）/拉丁美洲心律协会（LAHRS）关于心脏病基因检测现状的专家共识声明
Heart Rhythm. 2022 Jul;19(7):e1-e60. doi: 10.1016/j.hrthm.2022.03.1225. Epub 2022 Apr 4.
2
Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.遗传性心肌病相关基因变异的解读和临床应用：欧洲心脏病学会心血管基因组学理事会立场声明。
Eur Heart J. 2022 May 21;43(20):1901-1916. doi: 10.1093/eurheartj/ehab895.
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Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes.评估与遗传性心律失常和遗传性心肌病基因中不确定意义变异结果相关的临床实践。
Circ Genom Precis Med. 2020 Aug;13(4):e002789. doi: 10.1161/CIRCGEN.119.002789. Epub 2020 Jun 10.
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Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance.评估和验证一种表型增强的变异分类框架，以促进或降低不确定意义的 RYR2 错义变异。
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