P159: Implementation of ultra rapid long read genome sequencing inclusion criteria improves diagnostic yield, impacts management, saves costs, and changes policies

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Authors: Adnan Alsadah
Cited by: 0

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