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Updated: Jan 11, 2026

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Uncertainty-aware large language models for explainable disease diagnosis.

Shuang Zhou1, Jiashuo Wang2, Zidu Xu3

  • 1Division of Computational Health Sciences, Department of Surgery, University of Minnesota, Minneapolis, MN, USA.

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Summary
This summary is machine-generated.

ConfiDx, an AI model, identifies and explains diagnostic uncertainty in medicine. This advanced system improves diagnostic accuracy and aids clinicians in making better decisions when faced with unclear patient cases.

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Area of Science:

  • Artificial Intelligence in Medicine
  • Clinical Decision Support Systems
  • Medical Informatics

Background:

  • Explainable disease diagnosis using AI shows clinical promise but struggles with diagnostic uncertainty due to insufficient patient evidence.
  • Explicit identification and explanation of diagnostic uncertainty in AI systems are underexplored, increasing misdiagnosis risks.

Purpose of the Study:

  • To introduce ConfiDx, an uncertainty-aware large language model (LLM) designed to address diagnostic uncertainty in clinical settings.
  • To formalize the task of uncertainty-aware diagnosis and create annotated datasets reflecting diagnostic ambiguity.

Main Methods:

  • Developed ConfiDx, an LLM fine-tuned with diagnostic criteria for uncertainty-aware diagnosis.
  • Curated richly annotated datasets with varying degrees of diagnostic ambiguity.
  • Evaluated ConfiDx on real-world clinical datasets.

Main Results:

  • ConfiDx demonstrated excellence in identifying diagnostic uncertainties and improving diagnostic performance.
  • The model generated trustworthy explanations for diagnoses and uncertainties.
  • ConfiDx-assisted experts showed significant improvements in uncertainty recognition (10.7%) and explanation (26%) compared to standalone experts.

Conclusions:

  • ConfiDx effectively addresses the challenge of diagnostic uncertainty in AI-driven diagnostic systems.
  • The model enhances the trustworthiness and explainability of AI-generated diagnoses.
  • ConfiDx has substantial potential to improve clinical decision-making by aiding expert recognition and explanation of uncertainty.