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Journal Articles
Publication Date
5-1-2024
Journal
The Journal of Allergy and Clinical Immunology
Abstract
BACKGROUND: There are now approximately 450 discrete inborn errors of immunity (IEI) described; however, diagnostic rates remain suboptimal. Use of structured health record data has proven useful for patient detection but may be augmented by natural language processing (NLP). Here we present a machine learning model that can distinguish patients from controls significantly in advance of ultimate diagnosis date.
OBJECTIVE: We sought to create an NLP machine learning algorithm that could identify IEI patients early during the disease course and shorten the diagnostic odyssey.
METHODS: Our approach involved extracting a large corpus of IEI patient clinical-note text from a major referral center's electronic health record (EHR) system and a matched control corpus for comparison. We built text classifiers with simple machine learning methods and trained them on progressively longer time epochs before date of diagnosis.
RESULTS: The top performing NLP algorithm effectively distinguished cases from controls robustly 36 months before ultimate clinical diagnosis (area under precision recall curve > 0.95). Corpus analysis demonstrated that statistically enriched, IEI-relevant terms were evident 24+ months before diagnosis, validating that clinical notes can provide a signal for early prediction of IEI.
CONCLUSION: Mining EHR notes with NLP holds promise for improving early IEI patient detection.
Keywords
Natural language processing, machine learning, text mining, inborn errors of immunity, primary immunodeficiency, diagnosis, artificial intelligence
Included in
Allergy and Immunology Commons, Biomedical Informatics Commons, Internal Medicine Commons
Comments
Supplementary Materials
PMID: 38439946