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DOI 10.1093/jamiaopen/ooaf119

Медицинская библиотека · JAMIA open · 2025

Grounded large language models for diagnostic prediction in real-world emergency department settings.

Niset Alexandre, Melot Ines, Pireau Margaux, Englebert Alexandre, Scius Nathan, Flament Julien, El Hadwe Salim, Al Barajraji Mejdeddine, Thonon Henri, Barrit Sami

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Аннотация

OBJECTIVE

To evaluate predictive diagnostic performance of open- and closed-source large language models (LLMs) in emergency medicine, addressing the urgent need for innovative clinical decision support tools amid rising patient volumes and staffing shortages.

MATERIALS AND

METHODS

We generated 2370 AI-driven diagnostic predictions (Top-5 diagnoses from each of 6 model pipelines per patient), using data from 79 real-world emergency department cases collected consecutively during a 24-hour peak influx period at a tertiary care center. Pipelines combined open- and closed-source embedding models (text-embedding-ada-002, MXBAI) with foundational models (GPT-4, Llama3, and Qwen2) grounded via retrieval-augmented generation using emergency medicine textbooks. Models' predictions were assessed against reference diagnoses established by expert consensus.

RESULTS

All pipelines achieved comparable diagnostic match rates (62.03%-72.15%). Diagnostic performance was significantly influenced by case characteristics: match rates were notably higher for specific versus unspecific diagnoses (85.53% vs 31.41%, P < .001) and surgical versus medical cases (79.49% vs 56.25%, P < .001). Open-source models demonstrated markedly superior sourcing capabilities compared to GPT-4-based combinations (P < 1.4e-12), with MBXAI/Qwen2 pipeline achieving perfect citation verification.

DISCUSSION: Diagnostic accuracy primarily depended on case characteristics rather than the choice of model pipeline, highlighting fundamental AI alignment challenges in clinical reasoning. Low performance in unspecific diagnoses underscores inherent complexities in clinical definitions rather than technological shortcomings alone.

CONCLUSION

Open-source LLM pipelines provide enhanced sourcing capabilities, crucial for transparent clinical decision-making and interpretability. Further research should expand knowledge bases to include hospital guidelines and regional epidemiology, while exploring on-premises solutions to better align with privacy regulations and clinical integration.

Для цитирования: Niset Alexandre, Melot Ines, Pireau Margaux, Englebert Alexandre, Scius Nathan, Flament Julien, El Hadwe Salim, Al Barajraji Mejdeddine, Thonon Henri, Barrit Sami. Grounded large language models for diagnostic prediction in real-world emergency department settings.. JAMIA open. 2025. DOI: 10.1093/jamiaopen/ooaf119.
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