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A Machine Learning Decision Support Tool Optimizes Whole Genome Sequencing Utilization in a Neonatal Intensive Care Unit

Juarez, E. F.; Peterson, B.; Sanford Kobayashi, E.; Gilmer, S.; Tobin, L. E.; Schultz, B.; Lenberg, J.; Carroll, J.; Bai-Tong, S.; Sweeney, N. M.; Beebe, C.; Stewart, L.; Olsen, L.; Reinke, J.; Kiernan, E. A.; Reimers, R.; Wigby, K.; Tackaberry, C.; Yandell, M.; Hobbs, C.; Bainbridge, M. N.

2024-07-07 health informatics
10.1101/2024.07.05.24310008 medRxiv
Show abstract

The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using Natural Language Processing and Machine Learning, helped neonatologists expedite decisions to whole genome sequencing (WGS) to diagnose patients in the Neonatal Intensive Care Unit. After the MPSE was introduced, utilization of WGS increased, time to ordering WGS decreased, and WGS diagnostic yield increased.

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