P501: Demographic and geographic considerations in pediatric genome sequencing: A diagnostic laboratory review

Genetics in Medicine Open 2026 Open access

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Authors: Chad Moretz, Robert Rigobello, Morgan N. Driver, Alexander Bock, Matthew Walsh, Jason Chibuk
DOI: 10.1016/j.gimo.2026.103993
Cited by: 0

Abstract

Genome sequencing (GS) is increasingly utilized as a first-tier diagnostic tool for patients with suspected genetic disorders. The American Academy of Pediatrics and the American College of Medical Genetics and Genomics jointly recommended GS as a first-tier diagnostic test for children with intellectual disability, global developmental delay, and congenital anomalies. This policy shift marks a major step forward in the early identification of genetic conditions, moving comprehensive sequencing from specialty-based testing to a standard component of pediatric evaluation.

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
103993–103993
Publication date
1 January 2026
Language
EN