Rapid Genome Sequencing Identifies Treatable Conditions in Non-Intensive Care Unit Hospitalized Children.

PURPOSE: The utility of rapid genome sequencing (RGS) has been evaluated in pediatric intensive care unit (ICU) settings, but few studies investigate its use in non-critically ill hospitalized children. Our study assesses the impact of RGS use in the non-ICU setting. METHODS: We analyzed RGS results obtained for hospitalized children from 2019-2023 and evaluated the impact on non-ICU patient care. Changes in management were determined via chart review of the first 30 days after testing. RESULTS: RGS was performed on 422 individuals: 339 ICU and 83 non-ICU. The diagnostic rate was 39% (32/83) in non-ICU and 35% (120/339) in ICU patients. Eighty-one percent of non-ICU diagnostic RGS had a management change within 30 days, and 56% (18/32) received a disease- targeted intervention including medication or diet change, listing for transplant, or connection with a clinical trial. Of the children who received these intervention changes, the most common disease categories were metabolic (61%, 11/18) and epilepsy (22%, 4/18). CONCLUSION: RGS is effective at identifying treatable diagnoses in the non-ICU setting, with most patients experiencing a change in their care, and over half receiving disease-focused interventions. Our results support the utility of RGS use in non-ICU hospitalized children and can impact providers' decision-making and payor coverage.