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Genome Sequencing Appears to Edge Out Exome Sequencing in Clinical Utility in Meta-Analysis

Hong Kong Genome Institute and University of Hong Kong researchers reporting in Genetics in Medicine compare sequencing-based strategies for diagnosing rare pediatric or adult conditions, focusing on the diagnostic yield and clinical utility for exome sequencing and whole-genome sequencing (WGS). The team's meta-analysis examined exome and WGS diagnostic rates and clinical utility in more than 50,400 pediatric and rare disease cases reported in 161 studies published over a decade, from 2011 to 2021. Although the authors saw comparable variant of uncertain significance (VUS) and overall diagnostic rates by exome sequencing (WES) and WGS, their results pointed to an uptick in WGS-based diagnoses within specific cohorts, together with enhanced clinical utility for WGS. "This meta-analysis provides an important update to demonstrate the similar diagnostic rates between WES and WGS and the higher clinical utility of WGS over WES," the authors report. "With the newly published recommendations for clinical interpretation of variants found in non-coding regions of the genome and the trend of decreasing VUS and WGS cost, it is expected that WGS will be more widely used in clinical settings."