A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.

摘要: Genetic testing has the potential to guide prevention and treatment of disease in a variety settings, recent technical advances have greatly increased our ability acquire large amounts genetic data. The interpretation this data remains challenging, as clinical significance variation detected laboratory is not always clear. Although regulatory agencies professional societies provide some guidance regarding classification, reporting, long-term follow-up variants, few protocols for implementation these guidelines been described. Because primary aim results inform medical management, variant classification program that offers timely, accurate, confident cost-effective variants should be an integral component process. Here we describe components laboratory's current (VCP), based on 20 years experience over one million samples tested, using BRCA1/2 genes model. Our VCP lowered percentage tests which or more uncertain (VUSs) are 2.1% absence pathogenic mutation, demonstrating how coordinated application resources toward reclassification significantly impacts utility testing.