Gout & crystal arthritis

Large language models for accurate disease detection in electronic health records: the examples of crystal arthropathies

RMD OpenPublished Diagnostic accuracy study

Authors' conclusion

LLMs accurately detected disease diagnoses from EHRs, even in non-English languages.

Study context

Population
Paragraphs mentioning 'gout' from randomly selected electronic health record (EHR) documents of a tertiary university hospital in Geneva, Switzerland
Participants
700 paragraphs
Comparison
Large language model (LLM) (Llama-3-8B)-based framework vs regex-based method for detecting gout in French-language EHR paragraphs
Outcome
Accuracy of detecting true gout vs non-disease (gold standard: manual classification)
Methodological detailssingle-centre, few-shot and chain-of-thought prompting, manual review by two healthcare professionals as gold standard, validation set
  • Single-centre
  • Few-shot and chain-of-thought prompting
  • Manual review by two healthcare professionals as gold standard
  • Validation set

Performance

As reported in the abstract

Detection of gout
Test or modelPPVNPVAccuracy
LLM92.7% (88.7%-95.4%)96.6% (94.6%-97.8%)95.4% (93.6%-96.7%)

LLM

PPV92.7% (88.7%-95.4%)
NPV96.6% (94.6%-97.8%)
Accuracy95.4% (93.6%-96.7%)

Further findings

Accuracy, validation set on CPPD (600 paragraphs)

Accuracy
94.1% (90.2%-97.6%)

Dependence on model parameters

The LLM framework performed well over a wide range of parameter values

Original publication

Large language models for accurate disease detection in electronic health records: the examples of crystal arthropathies. RMD Open. Published 20 December 2024. doi:10.1136/rmdopen-2024-005003

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