P230: Tiny babies, big data: ICD billing code patterns in neonates diagnosed with genetic disease in the neonatal intensive care unit

Genetics in Medicine Open 2026 Open access

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Authors: Monica Wojcik, Retna Arun, Gwendolyn Strickland, Elly Brokamp, Bimal Pankaj Chaudhari, Austin A. Antoniou
DOI: 10.1016/j.gimo.2026.103724
Cited by: 0

Abstract

Genetic diseases (GDs) often present and are first diagnosed in the neonatal intensive care unit (NICU). Accurate identification of neonates with GD in electronic health records (EHR) would enable a more complete understanding of their phenotypic spectrum, advancing care and personalized medicine. However, accurate and comprehensive identification of neonates with GD in the EHR still eludes the bioinformatic field. Genetic testing results are not simple to identify at scale in the EHR, requiring custom extraction and manual review.

Fields of Study & Subjects

Medical Coding and Health Information Machine Learning in Healthcare Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103724–103724
Publication date
1 January 2026
Language
EN