Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic Disease

Quantification of WES clinical utility via Post-Exome Testing Decision Changes (P-TDC) measurement in 523 children with suspected rare genetic disease

A decision-analytic simulation model is developed to quantify the clinical utility of exome sequencing (WES) in 523 children with suspected rare genetic disease, via a new indicator: Post-Exome Testing Decision Changes (P-TDC). This indicator captures how WES guides or avoids additional diagnostic tests, beyond the diagnostic yield alone. Results show that WES modifies management decisions in a significant proportion of patients, strengthening its health-economic utility.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The P-TDC approach is innovative for health-economic evaluation of WES: by capturing avoided or redirected tests, it quantifies a value often ignored by classical cost-effectiveness analyses. These data strengthen the case for implementing WES as a first-line tool in pediatric rare genetic diseases.