Variant classification changes over time in the clinical molecular diagnostic laboratory setting

Appropriately classifying genetic testing results is necessary for patients to receive proper care. As more information is discovered about certain genes and their variants/mutations, prior classifications can be updated accordingly. We aimed to study the reclassifications of genetic variants from patients seen at hereditary cancer clinics in Ontario. Of the variants included in this study, 23.7% were reassessed, and 7.2% were reclassified. Overall, the final result was significantly different for 58.1% of variants. Most reclassified variants were downgraded. Our findings highlight the importance of reassessing genetic testing results to ensure timely and appropriate care for patients and their families. (By Elan Hahn, https://jmg.bmj.com/content/early/2024/05/28/jmg-2023-109772 )

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