Comparing natural language processing representations of coded disease sequences for prediction in electronic health records
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Published version
Author(s)
Type
Journal Article
Abstract
Objective
Natural language processing (NLP) algorithms are increasingly being applied to obtain unsupervised representations of electronic health record (EHR) data, but their comparative performance at predicting clinical endpoints remains unclear. Our objective was to compare the performance of unsupervised representations of sequences of disease codes generated by bag-of-words versus sequence-based NLP algorithms at predicting clinically relevant outcomes.
Materials and Methods
This cohort study used primary care EHRs from 6 286 233 people with Multiple Long-Term Conditions in England. For each patient, an unsupervised vector representation of their time-ordered sequences of diseases was generated using 2 input strategies (212 disease categories versus 9462 diagnostic codes) and different NLP algorithms (Latent Dirichlet Allocation, doc2vec, and 2 transformer models designed for EHRs). We also developed a transformer architecture, named EHR-BERT, incorporating sociodemographic information. We compared the performance of each of these representations (without fine-tuning) as inputs into a logistic classifier to predict 1-year mortality, healthcare use, and new disease diagnosis.
Results
Patient representations generated by sequence-based algorithms performed consistently better than bag-of-words methods in predicting clinical endpoints, with the highest performance for EHR-BERT across all tasks, although the absolute improvement was small. Representations generated using disease categories perform similarly to those using diagnostic codes as inputs, suggesting models can equally manage smaller or larger vocabularies for prediction of these outcomes.
Discussion and Conclusion
Patient representations produced by sequence-based NLP algorithms from sequences of disease codes demonstrate improved predictive content for patient outcomes compared with representations generated by co-occurrence-based algorithms. This suggests transformer models may be useful for generating multi-purpose representations, even without fine-tuning.
Natural language processing (NLP) algorithms are increasingly being applied to obtain unsupervised representations of electronic health record (EHR) data, but their comparative performance at predicting clinical endpoints remains unclear. Our objective was to compare the performance of unsupervised representations of sequences of disease codes generated by bag-of-words versus sequence-based NLP algorithms at predicting clinically relevant outcomes.
Materials and Methods
This cohort study used primary care EHRs from 6 286 233 people with Multiple Long-Term Conditions in England. For each patient, an unsupervised vector representation of their time-ordered sequences of diseases was generated using 2 input strategies (212 disease categories versus 9462 diagnostic codes) and different NLP algorithms (Latent Dirichlet Allocation, doc2vec, and 2 transformer models designed for EHRs). We also developed a transformer architecture, named EHR-BERT, incorporating sociodemographic information. We compared the performance of each of these representations (without fine-tuning) as inputs into a logistic classifier to predict 1-year mortality, healthcare use, and new disease diagnosis.
Results
Patient representations generated by sequence-based algorithms performed consistently better than bag-of-words methods in predicting clinical endpoints, with the highest performance for EHR-BERT across all tasks, although the absolute improvement was small. Representations generated using disease categories perform similarly to those using diagnostic codes as inputs, suggesting models can equally manage smaller or larger vocabularies for prediction of these outcomes.
Discussion and Conclusion
Patient representations produced by sequence-based NLP algorithms from sequences of disease codes demonstrate improved predictive content for patient outcomes compared with representations generated by co-occurrence-based algorithms. This suggests transformer models may be useful for generating multi-purpose representations, even without fine-tuning.
Date Issued
2024-07
Date Acceptance
2024-04-12
Citation
Journal of the American Medical Informatics Association, 2024, 31 (7), pp.1451-1462
ISSN
1527-974X
Publisher
Oxford University Press
Start Page
1451
End Page
1462
Journal / Book Title
Journal of the American Medical Informatics Association
Volume
31
Issue
7
Copyright Statement
© The Author(s) 2024. Published by Oxford University Press on behalf of the American Medical Informatics Association.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/38719204
Subjects
diseases
Long-Term Conditions
Multiple Long Term Conditions
natural language processing
prediction
representations
Publication Status
Published
Coverage Spatial
England
Article Number
ocae091
Date Publish Online
2024-05-08