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Updated: Aug 13, 2026
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
Rapid genome sequencing identifies treatable conditions in non-intensive care unit hospitalized children
Julie M Porter1, Rachel Palmquist2, Chelsea Solorzano3
1Division of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT; Department of Pediatrics, Primary Children's Center for Personalized Medicine, Salt Lake City, UT.
Insights
Rapid genome sequencing (RGS) effectively diagnoses rare diseases in hospitalized children outside the ICU. This genetic testing significantly changes patient management, leading to targeted interventions for metabolic and epilepsy conditions.
Area of Science:
- Genomics
- Pediatric Medicine
- Diagnostic Technology
Background:
- Rapid genome sequencing (RGS) utility is established in pediatric intensive care units (ICUs).
- Limited research exists on RGS application in non-critically ill hospitalized children.
Purpose of the Study:
- To assess the impact and effectiveness of RGS in non-ICU pediatric patients.
- To evaluate changes in patient management following RGS in a non-ICU setting.
Main Methods:
- Retrospective analysis of RGS results from 2019-2023 for hospitalized children.
- Evaluation of management changes within 30 days post-testing via chart review.
- Comparison of RGS utility in ICU versus non-ICU settings.
Main Results:
- RGS was performed on 422 children (83 non-ICU, 339 ICU).
- Diagnostic yield was 39% in non-ICU and 35% in ICU patients.
- Eighty-one percent of non-ICU diagnostic RGS cases led to management changes, with 56% receiving targeted interventions (metabolic, epilepsy).
Conclusions:
- RGS is effective in identifying treatable diagnoses in non-ICU hospitalized children.
- RGS significantly impacts patient care, guiding provider decisions and potentially influencing payor coverage.
- Supports the expanded use of RGS for hospitalized pediatric patients beyond critical care settings.
Purpose:
The utility of rapid genome sequencing (RGS) has been evaluated in pediatric intensive care unit (ICU) settings, but few studies have investigated 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 to 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 of 83) in non-ICU and 35% (120 of 339) in ICU patients. Eighty-one percent of diagnostic RGS results in non-ICU patients had a management change within 30 days, and 56% (18 of 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 of 18) and epilepsy (22%, 4 of 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 in non-ICU hospitalized children and can impact providers' decision-making and payer coverage.
