P462: Reduction in healthcare resource utilization for children with neurodevelopmental disorders after exome or genome sequencing: A SAVES-Kids Study*

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Authors: Colton Frazer, Paul Stephen Kruszka, Olaf A. Bodamer, Sarah Soto, Krystal L. Brown, Patricia Lopes, Farah Pathan, Pam Kumparatana, Xiyuan Wu, Aaron B. Mendelsohn, Britt A. Johnson
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Abstract

Neurodevelopmental disorders represent one of the most prevalent chronic medical conditions encountered in pediatric primary care. Establishing a molecular diagnosis through exome or genome sequencing (ES/GS) can enable more personalized clinical management. Although these management adjustments frequently influence healthcare resource utilization (HCRU) and associated costs, the extent of these potential benefits remain underexplored in this patient population. The aim of this study was to evaluate the impact of outpatient ES/GS on HCRU and total healthcare costs in a pediatric population clinically diagnosed with intellectual disability (ID) and/or developmental delay (DD).

Fields of Study & Subjects

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Down syndrome and intellectual disability research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103954–103954
Publication date
1 January 2026
Language
EN