P641: Rapid genome sequencing outside of the NICU: Utilization in pediatric and adult practices

Genetics in Medicine Open 2026 Open access

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Authors: Kristen J. Rasmussen, Sarah Barnett, Marissa S. Ellingson, Cassandra Runke, Lidija K. Gorsic, Thomas A. Jascur, Kyna A. Byerly, Abbie Covington, Anna A. Essendrup, Elyse B. Mitchell, Alka Malhotra, Sanghamitra Mishra
+8 more Elaine White, Erik C. Thorland, Ross A. Rowsey, Cherisse A. Marcou, Nicole L. Hoppman, Wei Shen, Natasha T. Strande, Nicole J. Boczek
DOI: 10.1016/j.gimo.2026.104131
Cited by: 0

Abstract

Genome sequencing (GS) has become a common tool in the diagnosis of rare disease. The ability to perform GS rapidly (rGS) has proven benefits in situations where a diagnosis can have immediate implications for treatment or decision-making. There is ample evidence supporting the utility of rGS in the neonatal intensive care unit (NICU), and its use is increasingly being extended to other hospital settings. Here, we review rGS testing performed in our laboratory for both pediatric and adult patients and share insights from our experience.

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
104131–104131
Publication date
1 January 2026
Language
EN