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

Abstract

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. 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. 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). 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.