PurposeThe 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.MethodsWe surveyed eight genetics diagnostic laboratories in Canada and the United States.ResultsEach 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.ConclusionOngoing 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.

中文翻译：

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序列变异的重新解释：一个诊断实验室的经验，以及对标准指南的需求。

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。最近的出版物为解释序列变体提供了标准，但目前没有关于重新解释这些变体的标准。认识到变异分类可能会随着时间的推移发生重大变化，许多遗传学诊断实验室已经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协议，但大多数人认为变异分类的临床相关变化应该传达给订购提供者。根据本次调查的结果和我们的经验，我们开发了一种具有成本效益和资源效率的变异重新解释方法。结论需要持续进行变异重新解释，以保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交付。结论需要持续的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交付。结论需要持续的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交付。