# Interpretable Differential Diagnosis with Dual-Inference Large Language Models

arXiv: https://arxiv.org/abs/2407.07330 · HTML: https://mlsanity.com/paper/2407.07330/

## Key facts

- Cited by 4 papers in the map (data through 14 Oct 2026).
- Builds on 26 of its 54 references that are in the map.
- First posted on arXiv 10 Jul 2024.

## Builds on (most cited first, 26 of 26)

- [BERT: Pre-training of Deep Bidirectional Transformers for Language Understanding](https://mlsanity.com/paper/1810.04805/) (2018)
- [Training language models to follow instructions with human feedback](https://mlsanity.com/paper/2203.02155/) (2022)
- [LLaMA: Open and Efficient Foundation Language Models](https://mlsanity.com/paper/2302.13971/) (2023)
- [Llama 2: Open Foundation and Fine-Tuned Chat Models](https://mlsanity.com/paper/2307.09288/) (2023)
- [Chain-of-Thought Prompting Elicits Reasoning in Large Language Models](https://mlsanity.com/paper/2201.11903/) (2022)
- [Sentence-BERT: Sentence Embeddings using Siamese BERT-Networks](https://mlsanity.com/paper/1908.10084/) (2019)
- [Self-Consistency Improves Chain of Thought Reasoning in Language Models](https://mlsanity.com/paper/2203.11171/) (2022)
- [BERTScore: Evaluating Text Generation with BERT](https://mlsanity.com/paper/1904.09675/) (2019)
- [PaLM: Scaling Language Modeling with Pathways](https://mlsanity.com/paper/2204.02311/) (2022)
- [Large Language Models Encode Clinical Knowledge](https://mlsanity.com/paper/2212.13138/) (2022)
- [What Disease does this Patient Have? A Large-scale Open Domain Question Answering Dataset from Medical Exams](https://mlsanity.com/paper/2009.13081/) (2020)
- [Towards Expert-Level Medical Question Answering with Large Language Models](https://mlsanity.com/paper/2305.09617/) (2023)
- [Evaluation of Text Generation: A Survey](https://mlsanity.com/paper/2006.14799/) (2020)
- [GatorTron: A Large Clinical Language Model to Unlock Patient Information from Unstructured Electronic Health Records](https://mlsanity.com/paper/2203.03540/) (2022)
- [A deep learning system for differential diagnosis of skin diseases](https://mlsanity.com/paper/1909.05382/) (2019)
- [Towards Accurate Differential Diagnosis with Large Language Models](https://mlsanity.com/paper/2312.00164/) (2023)
- [DDXPlus: A New Dataset For Automatic Medical Diagnosis](https://mlsanity.com/paper/2205.09148/) (2022)
- [Diagnostic Reasoning Prompts Reveal the Potential for Large Language Model Interpretability in Medicine](https://mlsanity.com/paper/2308.06834/) (2023)
- [Towards Conversational Diagnostic AI](https://mlsanity.com/paper/2401.05654/) (2024)
- [Self-Contrast: Better Reflection Through Inconsistent Solving Perspectives](https://mlsanity.com/paper/2401.02009/) (2024)
- [RareBench: Can LLMs Serve as Rare Diseases Specialists?](https://mlsanity.com/paper/2402.06341/) (2024)
- [Large Language Models are Clinical Reasoners: Reasoning-Aware Diagnosis Framework with Prompt-Generated Rationales](https://mlsanity.com/paper/2312.07399/) (2023)
- [Foundation Metrics for Evaluating Effectiveness of Healthcare Conversations Powered by Generative AI](https://mlsanity.com/paper/2309.12444/) (2023)
- [DRG-LLaMA : Tuning LLaMA Model to Predict Diagnosis-related Group for Hospitalized Patients](https://mlsanity.com/paper/2309.12625/) (2023)
- [MDDial: A Multi-turn Differential Diagnosis Dialogue Dataset with Reliability Evaluation](https://mlsanity.com/paper/2308.08147/) (2023)
- [Towards Trustworthy Automatic Diagnosis Systems by Emulating Doctors' Reasoning with Deep Reinforcement Learning](https://mlsanity.com/paper/2210.07198/) (2022)

## Built on by (most cited first, 4 of 4)

- [Clinical Insights: A Comprehensive Review of Language Models in Medicine](https://mlsanity.com/paper/2408.11735/) (2024)
- [EPEE: Towards Efficient and Effective Foundation Models in Biomedicine](https://mlsanity.com/paper/2503.02053/) (2025)
- [Data-Efficient Biomedical In-Context Learning: A Diversity-Enhanced Submodular Perspective](https://mlsanity.com/paper/2508.08140/) (2025)
- [SwasthLLM: a Unified Cross-Lingual, Multi-Task, and Meta-Learning Zero-Shot Framework for Medical Diagnosis Using Contrastive Representations](https://mlsanity.com/paper/2509.20567/) (2025)

## Abstract (arXiv)

Automatic differential diagnosis (DDx) is an essential medical task that generates a list of potential diseases as differentials based on patient symptom descriptions. In practice, interpreting these differential diagnoses yields significant value but remains under-explored. Given the powerful capabilities of large language models (LLMs), we investigated using LLMs for interpretable DDx. Specifically, we curated the first DDx dataset with expert-derived interpretation on 570 clinical notes. Besides, we proposed Dual-Inf, a novel framework that enabled LLMs to conduct bidirectional inference (i.e., from symptoms to diagnoses and vice versa) for DDx interpretation. Both human and automated evaluation validated its efficacy in predicting and elucidating differentials across four base LLMs. In addition, Dual-Inf could reduce interpretation errors and hold promise for rare disease explanations. To the best of our knowledge, it is the first work that customizes LLMs for DDx explanation and comprehensively evaluates their interpretation performance. Overall, our study bridges a critical gap in DDx interpretation and enhances clinical decision-making.
