P631: Clinical utility of rapid genome sequencing in pediatric patients with cardiac phenotypes

Genetics in Medicine Open 2026 Open access

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Authors: Kevin M. Bowling, Matheus Vernet Machado Bressan Wilke, Michelle Thompson, Alexa Dickson, Meagan M. Corliss, Yang Cao, Jason Walker, Gregory Sprenger, Ramya Balakrishnan, Kilannin Krysiak, Molly C. Schroeder, PATRICIA DICKSON
+11 more Catherine F. Gooch, Jorge Luis Granadillo de Luque, Dorothy Grange, Jennifer M. Heeley, Nathaniel Jensen, Katherine A. King, Maria Laura Duque Lasio, Hoanh Nguyen, Sara S. Procknow, Marwan S. Shinawi, Julie Neidich
DOI: 10.1016/j.gimo.2026.104121
Cited by: 0

Abstract

Rapid genome sequencing (rGS) of critically ill patients from pediatric and neonatal intensive care units offers significant advantages by enabling early diagnosis, guiding clinical management, and improving outcomes. Early comprehensive testing is particularly beneficial in this population, as many patients have yet to develop the full phenotypic spectrum of their underlying conditions. Congenital heart defects (CHD) are the most common birth defects, affecting approximately 1% of live births annually in the United States.

Fields of Study & Subjects

Genomics and Rare Diseases Cardiomyopathy and Myosin Studies Congenital Heart Disease Studies

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104121–104121
Publication date
1 January 2026
Language
EN