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Large Language Models for Disease Diagnosis: A Scoping Review

arXiv 2409.00097 ↗First posted 27 Aug 2024cs.CL cs.AIcited by 51

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Abstract (arXiv)

Automatic disease diagnosis has become increasingly valuable in clinical practice. The advent of large language models (LLMs) has catalyzed a paradigm shift in artificial intelligence, with growing evidence supporting the efficacy of LLMs in diagnostic tasks. Despite the increasing attention in this field, a holistic view is still lacking. Many critical aspects remain unclear, such as the diseases and clinical data to which LLMs have been applied, the LLM techniques employed, and the evaluation methods used. In this article, we perform a comprehensive review of LLM-based methods for disease diagnosis. Our review examines the existing literature across various dimensions, including disease types and associated clinical specialties, clinical data, LLM techniques, and evaluation methods. Additionally, we offer recommendations for applying and evaluating LLMs for diagnostic tasks. Furthermore, we assess the limitations of current research and discuss future directions. To our knowledge, this is the first comprehensive review for LLM-based disease diagnosis.

Key facts. Cited by 51 papers in the map (data through 14 Oct 2026). First posted on arXiv 27 Aug 2024.

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Citing papers per year: 2024: 1; 2025: 34; 2026: 16.

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  1. 2025Dynamic and Generalizable Process Reward Modelingcited by 16
  2. 2025MMRAG: Multi-Mode Retrieval-Augmented Generation with Large Language Models for Biomedical In-Context Learningcited by 13
  3. 2025A Case Study Exploring the Current Landscape of Synthetic Medical Record Generation with Commercial LLMscited by 13
  4. 2025FinLoRA: Benchmarking LoRA Methods for Fine-Tuning LLMs on Financial Datasetscited by 12
  5. 2025KERAP: A Knowledge-Enhanced Reasoning Approach for Accurate Zero-shot Diagnosis Prediction Using Multi-agent LLMscited by 12
  6. 2024RAMIE: Retrieval-Augmented Multi-task Information Extraction with Large Language Models on Dietary Supplementscited by 11
  7. 2025End-to-End Agentic RAG System Training for Traceable Diagnostic Reasoningcited by 10
  8. 2025Structured Semantics from Unstructured Notes: Language Model Approaches to EHR-Based Decision Supportcited by 7
  9. 2025Tree-of-Reasoning: Towards Complex Medical Diagnosis via Multi-Agent Reasoning with Evidence Treecited by 7
  10. 2025An evaluation of DeepSeek Models in Biomedical Natural Language Processingcited by 6
  11. 2025MACD: Multi-Agent Clinical Diagnosis with Self-Learned Knowledge for LLMcited by 6
  12. 2025Retrieval-augmented in-context learning for multimodal large language models in disease classificationcited by 5
38 more
  1. 2025Memorization in Large Language Models in Medicine: Prevalence, Characteristics, and Implicationscited by 5
  2. 2026Improving Clinical Diagnosis with Counterfactual Multi-Agent Reasoningcited by 5
  3. 2025AnchorAttention: Difference-Aware Sparse Attention with Stripe Granularitycited by 4
  4. 2025Knowing What You Know Is Not Enough: Large Language Model Confidences Don't Align With Their Actionscited by 4
  5. 2025Large Language models for Time Series Analysis: Techniques, Applications, and Challengescited by 3
  6. 2025Quantized Large Language Models in Biomedical Natural Language Processing: Evaluation and Recommendationcited by 3
  7. 2025Generalist Foundation Models Are Not Clinical Enough for Hospital Operationscited by 3
  8. 2026Distilling the Thought, Watermarking the Answer: A Principle Semantic Guided Watermark for Large Reasoning Modelscited by 3
  9. 2025Rare Disease Differential Diagnosis with Large Language Models at Scale: From Abdominal Actinomycosis to Wilson's Diseasecited by 2
  10. 2025DDO: Dual-Decision Optimization for LLM-Based Medical Consultation via Multi-Agent Collaborationcited by 2
  11. 2025Adaptive Diagnostic Reasoning Framework for Pathology with Multimodal Large Language Modelscited by 2
  12. 2026Can LLMs Use Linguistic Uncertainty Markers to Reliably Reflect Intrinsic Confidence?cited by 2
  13. 2025Explainable AI for Mental Health Emergency Returns: Integrating LLMs with Predictive Modelingcited by 1
  14. 2025Reviewing Clinical Knowledge in Medical Large Language Models: Training and Beyondcited by 1
  15. 2025Refine Medical Diagnosis Using Generation Augmented Retrieval and Clinical Practice Guidelinescited by 1
  16. 2025Trustworthy Reasoning: Evaluating and Enhancing Factual Accuracy in LLM Intermediate Thought Processescited by 1
  17. 2025DKG-LLM : A Framework for Medical Diagnosis and Personalized Treatment Recommendations via Dynamic Knowledge Graph and Large Language Model Integrationcited by 1
  18. 2025Data-Efficient Biomedical In-Context Learning: A Diversity-Enhanced Submodular Perspectivecited by 1
  19. 2025H-DDx: A Hierarchical Evaluation Framework for Differential Diagnosiscited by 1
  20. 2026Toward Federated Large Language Models in Medicine: A Parameter-Efficient Framework for Privacy-Preserving, Multi-Institutional Adaptationcited by 1
  21. 2026Are Multimodal LLMs Ready for Clinical Dermatology? A Real-World Evaluation in Dermatologycited by 1
  22. 2026ReportQA: QA-Based Radiology Report Evaluationcited by 1
  23. 2026Metacognition in LLMs: Foundations, Progress, and Opportunitiescited by 1
  24. 2026Sparse Multi-Stage Expert-Agent Routing for Complex Clinical Reasoningcited by 1
  25. 2025Continually Evolved Multimodal Foundation Models for Cancer Prognosiscited by 0
  26. 2025Fragments to Facts: Partial-Information Fragment Inference from LLMscited by 0
  27. 2025Early Diagnosis of Atrial Fibrillation Recurrence: A Large Tabular Model Approach with Structured and Unstructured Clinical Datacited by 0
  28. 2025A Multi-granularity Concept Sparse Activation and Hierarchical Knowledge Graph Fusion Framework for Rare Disease Diagnosiscited by 0
  29. 2025Generating Findings for Jaw Cysts in Dental Panoramic Radiographs Using a GPT-Based VLM: A Preliminary Study on Building a Two-Stage Self-Correction Loop with Structured Output (SLSO) Frameworkcited by 0
  30. 2025An Information-Theoretic Framework for Robust Large Language Model Editingcited by 0
  31. 2025ADMEDTAGGER: an annotation framework for distillation of expert knowledge for the Polish medical languagecited by 0
  32. 2026EpiScreen: Early Epilepsy Detection from Electronic Health Records with Large Language Modelscited by 0
  33. 2026Demystifying the Silence of Correctness Bugs in PyTorch Compilercited by 0
  34. 2026COTCAgent: Preventive Consultation via Probabilistic Chain-of-Thought Completioncited by 0
  35. 2026Data Attribution in Large Language Models via Bidirectional Gradient Optimizationcited by 0
  36. 2026A specialized reasoning large language model for accelerating rare disease diagnosis: a randomized AI physician assistance trialcited by 0
  37. 2026Agentic AI in medicine: architectures, applications, evaluation, and challenges for clinical translationcited by 0
  38. 2026A Structured Debate-Mixture-of-Agents Framework for Complex Clinical Diagnostic Decision Supportcited by 0

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