Development and validation of a generalisable machine learning algorithm for identifying interstitial lung disease
Erica Farrand1, Augustine Chung2, Jisha Joshua3
1Department of Medicine, University of California San Francisco, San Francisco, CA, USA.
A new machine learning model, the Universal Interstitial Lung Disease (ILD) Classifier, accurately identifies ILD cases using electronic health records (EHR). This tool outperforms existing methods, improving research for rare diseases.
Area of Science:
- Medical Informatics
- Pulmonology
- Machine Learning in Healthcare
Background:
- Accurate classification of Interstitial Lung Disease (ILD) is challenging in large electronic health record (EHR) databases.
- Existing rule-based methods often rely on unreliable diagnostic codes for ILD identification.
Purpose of the Study:
- To develop and externally validate a machine learning algorithm for robustly identifying prevalent ILD cases using routinely captured EHR data.
- To compare the performance of the developed algorithm against established rule-based classification methods.
Main Methods:
- A retrospective study using EHR data from multiple academic centers (UC Health Data Warehouse).
- Development of the Universal ILD Classifier, a machine learning model trained on standardized EHR data elements.
- External validation across three independent sites using an EHR-agnostic common data model.
- Algorithm performance assessed using positive predictive value (PPV), sensitivity, F1-score, and ROC-AUC.
Main Results:
- The Universal ILD Classifier demonstrated strong generalisability with an average PPV of 0.67 and ROC-AUC of 0.96.
- The classifier achieved high sensitivity (0.97) and F1-score (0.79).
- It consistently outperformed two rule-based methods in key performance metrics.
Conclusions:
- The Universal ILD Classifier provides a reliable method for large-scale ILD research by leveraging readily available EHR data.
- This algorithm surpasses traditional rule-based approaches, offering a foundation for improved epidemiological studies and clinical trials in ILD.
- Potential limitations include residual confounding and generalisability issues inherent in retrospective EHR analyses.
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