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Automating detection of diagnostic error of infectious diseases using machine learning
Kelly S Peterson1,2, Alec B Chapman2,3, Wathsala Widanagamaachchi2,3
1Veterans Health Administration, Office of Analytics and Performance Integration, Washington D.C., District of Columbia, United States of America.
Abstract:
Diagnostic error, a cause of substantial morbidity and mortality, is largely discovered and evaluated through self-report and manual review, which is costly and not suitable to real-time intervention. Opportunities exist to leverage electronic health record data for automated detection of potential misdiagnosis, executed at scale and generalized across diseases. We propose a novel automated approach to identifying diagnostic divergence considering both diagnosis and risk of mortality. Our objective was to identify cases of emergency department infectious disease misdiagnoses by measuring the deviation between predicted diagnosis and documented diagnosis, weighted by mortality. Two machine learning models were trained for prediction of infectious disease and mortality using the first 24h of data. Charts were manually reviewed by clinicians to determine whether there could have been a more correct or timely diagnosis. The proposed approach was validated against manual reviews and compared using the Spearman rank correlation. We analyzed 6.5 million ED visits and over 700 million associated clinical features from over one hundred emergency departments. The testing set performances of the infectious disease (Macro F1 = 86.7, AUROC 90.6 to 94.7) and mortality model (Macro F1 = 97.6, AUROC 89.1 to 89.1) were in expected ranges. Human reviews and the proposed automated metric demonstrated positive correlations ranging from 0.231 to 0.358. The proposed approach for diagnostic deviation shows promise as a potential tool for clinicians to find diagnostic errors. Given the vast number of clinical features used in this analysis, further improvements likely need to either take greater account of data structure (what occurs before when) or involve natural language processing. Further work is needed to explain the potential reasons for divergence and to refine and validate the approach for implementation in real-world settings.
Insights
This study introduces an automated method using electronic health records to detect potential diagnostic errors in emergency departments, aiming to improve patient safety and reduce mortality risks.
Area of Science:
- Medical Informatics
- Machine Learning in Healthcare
- Patient Safety
Background:
- Diagnostic errors contribute significantly to patient morbidity and mortality.
- Current methods for identifying diagnostic errors are manual, costly, and not real-time.
- Electronic health record (EHR) data offers potential for automated misdiagnosis detection.
Purpose of the Study:
- To develop and validate an automated approach for identifying diagnostic divergence in emergency department (ED) infectious disease cases.
- To measure diagnostic deviation by comparing predicted diagnoses with documented diagnoses, weighted by mortality risk.
- To assess the utility of machine learning models in detecting potential misdiagnoses at scale.
Main Methods:
- Trained two machine learning models to predict infectious disease and mortality using the first 24 hours of EHR data.
- Analyzed 6.5 million ED visits across over 100 emergency departments.
- Validated the automated approach against manual chart reviews by clinicians using Spearman rank correlation.
Main Results:
- The infectious disease model achieved a Macro F1 score of 86.7 and AUROC of 90.6-94.7.
- The mortality model achieved a Macro F1 score of 97.6 and AUROC of 89.1.
- Positive correlations (0.231-0.358) were observed between the automated metric and manual clinician reviews.
Conclusions:
- The proposed automated approach shows promise for identifying diagnostic errors in real-world clinical settings.
- This method can serve as a valuable tool for clinicians to detect potential misdiagnoses.
- Future work should incorporate data structure and natural language processing for enhanced accuracy and explainability.

