Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines

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.

We surveyed eight genetics diagnostic laboratories in Canada and the United States.

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.

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.

Lead Researchers

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  1. Olga Jarinova

    Investigator, CHEO Research Institute

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  2. Private: Jean McGowan-Jordan

    Investigator, CHEO Research Institute

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