Childhood Epilepsy Diagnoses Shift With Genomic Reinterpretation

Periodically re-analyzing genomic variant data can lead to new diagnoses for children with epilepsy, according to a new retrospective analysis. Researchers from the University of Texas Southwestern Medical Center focused on results from genomic tests performed for 309 children with epilepsy-like symptoms between July 2012 and August 2015 — 185 of these children had variants reported as pathogenic, likely pathogenic, or of uncertain significance. The reinterpretation was done in the spring of 2017 using population allele frequency, clinical variant association, and American College of Medical Genetics and Genomics variant classification recommendations available at the time. The team’s results led to variant re-classifications for 67 of the 185 children with a previously reported genetic variant. Of those 67 cases, 21 patients received new diagnoses following the variant re-interpretation step.

https://jamanetwork.com/journals/jamapediatrics/article-abstract/2712361