Rapid Whole-Genome Sequencing in Pediatric Neurology Inpatients.

Rapid trio/duo/singleton whole-genome sequencing in pediatric neurology inpatients achieved a 45.1% initial phenotype-concordant diagnostic yield, with faster point-of-care reporting in a tertiary center cohort.

• Why it matters: Evidence for rapid WGS has largely focused on neonatal and pediatric ICU settings, leaving uncertainty about diagnostic yield and clinical impact across broader acute pediatric neurology inpatient care.
• What they did: In a retrospective cohort of 175 children (82 neonates, 93 nonneonates) with unexplained neurologic presentations, investigators measured initial phenotype-concordant yield, reanalysis yield, cumulative yield, and management change, using logistic regression for associations.
• The result: Initial phenotype-concordant diagnoses occurred in 79 children (45.1%), management changed in 54 of 82 (65.9%) diagnosed cases, and reanalysis added 3 diagnoses for a cumulative 46.9% yield.

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