Changing and discrepant variant classifications: Can you trust genetic testing results?

The Wall Street Journal recently profiled a family whose BRCA2 variant was reclassified—from Pathogenic to a Variant of Uncertain Significance. This difference in classification has important implications for medical management recommendations. The family profiled, however, made irreversible decisions years ago, based on the Pathogenic classification provided at the time. Certified genetic counselor Ann Jeffers Brown discusses how common these changes in classification are, as well as some of the work that goes into variant classification.

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Related Links

Dockser Marcus, Ann. “A Genetic Test Led Seven Women in One Family to Have Major Surgery. Then the Odds Changed.” The Wall Street Journal. December 20, 2019.

Center for Genomic Interpretation: a nonprofit with a mission to drive quality in clinical genetics, genomics and Precision Medicine

Eggington, JM et al. “A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.” Clin Genet. 2014 Sep;86(3):229-37.

Pruss, D, et al. “Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.” Breast Cancer Res Treat. 2014 Aug;147(1):119-32.

Julie Eggington on Twitter: @Dr_J_Eggington

Laura Hercher’s related Twitter thread