P195: Seq4NICUs pilot: Universal rapid genome sequencing for NICU infants

Genetics in Medicine Open 2026 Open access

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Authors: Courtney P. Verscaj, Sophie Blumberg, Kaiulani S. Shulman, A. Mehra, Retna Arun, Gwendolyn Strickland, Monica Wojcik
DOI: 10.1016/j.gimo.2026.103689
Cited by: 0

Abstract

Rapid genomic sequencing (GS) has emerged as a powerful tool for diagnosis in the neonatal intensive care unit (NICU) and is typically offered to families based upon clinician selection of infants who are perceived to have the most potential to benefit from diagnostic GS. Level IV NICUs care for the most complex infants in the United States, many of whom have underlying genetic conditions. In this setting, universal access to rapid GS may be superior to current selective approaches. We therefore investigated the diagnostic, clinical, and personal utility of universal rapid GS in a pilot study within a level IV NICU.

Fields of Study & Subjects

Genomics and Rare Diseases Metabolism and Genetic Disorders Prenatal Screening and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103689–103689
Publication date
1 January 2026
Language
EN