Whole-Exome Sequencing Boosts Diagnosis of Rare Diseases in Czech Children
• A pilot program in the Czech Republic used whole-exome sequencing (WES) to diagnose rare genetic diseases in pediatric patients, enrolling 58 children with undiagnosed conditions.
• WES identified 28 variants in 25 patients, leading to a diagnostic yield of 43%, with 11 variants being novel and not previously reported in public databases.
• The study demonstrated a high clinical utility of 76%, enabling changes in the medical care of the diagnosed patients, highlighting the impact of WES on patient management.
• The findings support the use of WES to improve diagnostic accuracy and clinical outcomes for children with rare and undiagnosed diseases.
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