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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?

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.

DOI:10.1038/s41431-022-01173-z
PMID:36008533
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9626604/
Abstract
摘要

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本文引用的文献

1
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.
3
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.
4
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。
Circ Genom Precis Med. 2019 May;12(5):e002510. doi: 10.1161/CIRCGEN.119.002510.
5
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).基因组检测结果重新评估与再分析中需考虑的要点：美国医学遗传学与基因组学学会（ACMG）声明
Genet Med. 2019 Jun;21(6):1267-1270. doi: 10.1038/s41436-019-0478-1. Epub 2019 Apr 24.
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Perceptions of genetic variant reclassification in patients with inherited cardiac disease.遗传性心脏病患者对基因突变再分类的看法。
Eur J Hum Genet. 2019 Jul;27(7):1134-1142. doi: 10.1038/s41431-019-0377-6. Epub 2019 Mar 21.
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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.遗传性心脏病中的大型新一代测序基因面板：致病变异和意义未明变异的检出率
Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5.
8
Variants of Uncertain Significance: Should We Revisit How They Are Evaluated and Disclosed?意义未明的变异：我们是否应该重新审视它们的评估和披露方式？
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9
Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy.肥厚型心肌病中不确定基因检测结果的态度、知识及影响
Eur J Hum Genet. 2017 Jun;25(7):809-815. doi: 10.1038/ejhg.2017.66. Epub 2017 May 3.