Diagnostic Utility of Whole Exome and Genome Sequencing

This technical report presents an analysis of the diagnostic utility of whole exome sequencing (ES) and genome sequencing (GS) among adult patients. The study focuses on the diagnostic yields of these genetic tests, particularly in adult cohorts, which are less documented compared to pediatric populations. The report outlines the methodology, which involved a retrospective review of consecutive GS/ES cases from a clinical laboratory, including patients aged 18 years and older. It details the findings, indicating that the overall diagnostic yield was approximately 25%, with higher yields of around 40% for patients with intellectual disabilities (ID) and developmental delays (DD). The report emphasizes the importance of expanding testing guidelines to include adult patients, especially those with DD and ID, as the findings suggest significant diagnostic potential for older patients, particularly in identifying pathogenic variants and specific genetic conditions. The report concludes that GS provides enhanced diagnostic capabilities compared to ES.