Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

Year: 2026

Type: article

Abstract: Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single-center hospital policy change allowing broader, first-line rES/rGS for children in Cardiac and Pediatric Intensive Care Units (CICU, PICU). We conducted retrospective chart review from 1/1/2021-9/15/2024 for children in the CICU and PICU for whom genetic consultation was requested prior to (n = 64) and after (n = 211) the policy change. Exome and genome sequencing (ES/GS), both rapid and non-rapid, was completed in 174 patients, with 146 completing rES/rGS. Overall ES/GS diagnostic yield was 36.5% in the CICU and 31.2% in the PICU. Post-policy change, there were more requested genetics consults, an increase in rES/rGS completed (CICU: 4.8% vs. 56.0%; PICU: 13.6% vs. 88.5%), an increase in diagnoses/year (CICU: 6.0 vs. 14.3; PICU: 6.0 vs. 7.6), and decreased time to diagnosis (CICU: 23 vs. 12 days; PICU: 33 vs. 16 days). We show that changing hospital policy to allow for first-line rES/rGS in the CICU/PICU led to more consults, a higher percentage of patients receiving rES/rGS, a 2.4-fold increase in genetic diagnoses in the CICU, and decreased time to diagnosis in both units.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.70088

Institutions: Seattle Children's Hospital, University of Washington, University of Pennsylvania

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,710

Funder: Seattle Children's Research Institute

OpenAlex ID: W7129015605