O27: Diagnostic yield and clinical utility of rapid genome sequencing in an unrestricted NICU cohort
Abstract
Rapid genome sequencing (rGS) is increasingly becoming standard practice for critically ill neonates due to its impressive turnaround time and diagnostic yield. As part of a broader study to develop and validate an in-house rGS assay, a cohort of neonates clinically consented for commercial rGS were also consented for an ancillary blood draw for test development and study of healthcare outcomes. Here, we report the diagnostic yield and clinical utility of rGS in the Nationwide Children’s Hospital NICU.
Fields of Study & Subjects
Genomics and Rare Diseases
Metabolism and Genetic Disorders
Neonatal and Maternal Infections
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104314–104314
- Publication date
- 1 January 2026
- Language
- EN