P223: Large-scale implementation of rapid genome sequencing as a first-tier diagnostic in 662 hospitalized patients at a tertiary center

Genetics in Medicine Open 2026 Open access

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Authors: Ecenur Tuc Bengur, Nathaniel Jensen, PATRICIA DICKSON, Maria Laura Duque Lasio, Catherine F. Gooch, Jorge Luis Granadillo de Luque, Dorothy Grange, Jennifer M. Heeley, Katherine A. King, Hoanh Nguyen, Sara S. Procknow, Zhancheng Zhang
+2 more Kirsty M. McWalter, Marwan S. Shinawi
DOI: 10.1016/j.gimo.2026.103717
Cited by: 0

Abstract

Rapid genome sequencing (rGS) has emerged as a promising diagnostic tool in recent years for pediatric inpatients with suspected genetic disorders.rGS has become the preferred method for identifying genetic variations associated with a wide range of conditions, including developmental delay, intellectual disability, and congenital anomalies. Literature demonstrates substantial improvements in diagnostic yield and time to diagnosis when rGS is used as a first-tier approach, including direct implications for patient management and outcomes.

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
103717–103717
Publication date
1 January 2026
Language
EN