P159: Implementation of ultra rapid long read genome sequencing inclusion criteria improves diagnostic yield, impacts management, saves costs, and changes policies
Abstract
Rapid exome (rES) and genome sequencing (rGS) have been shown to be valuable genetic testing tools in Neonatal ICU and Pediatric ICU to improve diagnostic yield and help save cost. However, lack of consistent multidisciplinary inclusion and exclusion criteria and workflow amongst major US healthcare systems hindered access, turn-around time (TAT), proper utilization, laboratory reimbursements, and polices. Moreover, the recent development in long read genome sequencing (LR-GS) and the availability of ultra-rapid turn-around time (TAT) represented unique opportunities for critically-ill pediatric patients to improve diagnostic yield and impact management.
Fields of Study & Subjects
Genomics and Rare Diseases
Metabolism and Genetic Disorders
Connective tissue disorders research
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103653–103653
- Publication date
- 1 January 2026
- Language
- EN