Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines
Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines
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DOI：
10.1038/gim.2017.191
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发表时间：
2018-03-01
影响因子：
8.8
通讯作者：
Jarinova, Olga
中科院分区：
文献类型：
--
作者：
Chisholm, Caitlin;Daoud, Hussein;Jarinova, Olga
目的：新一代测序的出现导致分子遗传学诊断实验室检测、解释和报告的变异数量大幅增加。最近的出版物提供了序列变异的解释标准，但目前没有关于这些变异的重新解释的标准。认识到随着时间的推移，变异分类可能会发生重大变化，许多遗传学诊断实验室独立开发了变异重新解释的实践。本研究的目的是描述我们实验室对变异重新解释的方法。方法：我们调查了加拿大和美国的八个遗传学诊断实验室。结果：每个实验室都有不同的方案，但大多数实验室认为变异分类的临床相关变化应传达给订购提供商。根据这项调查的结果和我们的经验，我们开发了一种经济有效且资源高效的变异重新解释方法。结论：需要持续进行变异重新解释，以维持提供遗传学实验室服务的最高标准。我们的变异重新解释方法提供了一种有效的解决方案，不会影响遗传学实验室服务的准确性或及时提供。 Genet Med 提前在线出版物 2017 年 12 月 14 日
Purpose: The advent of next-generation sequencing resulted in substantial increases in the number of variants detected, interpreted, and reported by molecular genetics diagnostic laboratories. Recent publications have provided standards for the interpretation of sequence variants, but there are currently no standards regarding reinterpretation of these variants. Recognizing that significant changes in variant classification may occur over time, many genetics diagnostic laboratories have independently developed practices for variant reinterpretation. The purpose of this study is to describe our laboratory approach to variant reinterpretation.Methods: We surveyed eight genetics diagnostic laboratories in Canada and the United States.Results: Each laboratory had differing protocols, but most felt that clinically relevant changes to variant classifications should be communicated to ordering providers. Based on results of this survey and our experience, we developed a cost-effective and resource-efficient approach to variant reinterpretation.Conclusion: Ongoing variant reinterpretation is required to maintain the highest standards for delivering genetics laboratory services. Our approach to variant reinterpretation offers an efficient solution that does not compromise accuracy or timely delivery of genetics laboratory services. Genet Med advance online publication 14 December 2017