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

Year: 2026

Type: conference-abstract

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).

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2026.103954

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

Institutions: University of Virginia, Boston Children's Hospital

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200

OpenAlex ID: W7133722399

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