Data sharing to improve concordance in variant interpretation across laboratories results from the canadian open genetics repository

December 22, 2021 7:08 am Published by Leave your thoughts

Accurate variant interpretation is essential for the benefits of clinical genetic testing to be realized. In variant interpretation, multiple lines of evidence are considered to evaluate a
variant’s pathogenicity. Despite guidelines from the American College of Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology (AMP), discordant
variant classifications exist between laboratories. Data sharing may improve concordance in variant interpretation. The Canadian Open Genetics Repository (COGR) is a collaborative
effort for sharing and reinterpreting variants reported by diagnostics laboratories, using an online platform. Previously, we found that COGR was effective at improving concordance
in BRCA1 and BRCA2 variant interpretation across 13 laboratories. We now expand our efforts to all genes tested at the participating laboratories.

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