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Nov 11

MedReaMM: Evaluating Large Multimodal Models on Expert-Level Clinical Diagnostic Synthesis

The application of Large Language Models (LLMs) to diagnostic decision-making has garnered growing interest. However, existing benchmarks largely focus on textual reasoning or isolated visual question-answering (VQA) tasks, lacking holistic integration of clinical narratives and medical imaging, and thus failing to assess the multimodal diagnostic synthesis capability central to expert clinical judgment. To bridge this gap, we introduce MedReaMM, a benchmark specifically designed to evaluate models' ability to synthesize heterogeneous clinical evidence consisting of detailed patient histories alongside multiple medical images into accurate differential diagnoses under a complete-information paradigm. Constructed from case reports sourced from top-tier medical journals and curated clinical case databases, MedReaMM comprises 625 expert-validated cases with an average of 2.79 medical images per case and a total of 1,042 standardized diagnoses annotated with ICD-11 codes. These cases predominantly represent rare, atypical, or multi-system presentations that demand expert-level evidence integration beyond routine pattern recognition. We evaluate 23 Large Multimodal Models (LMMs) and find that most achieve diagnostic accuracy scores below 50%, underscoring a substantial gap in multimodal diagnostic synthesis capability. Further analysis reveals that medical knowledge proficiency, medical image understanding, and evidence integration are all highly correlated with diagnostic performance.

  • 8 authors
·
Aug 22

DiagnosisArena: Benchmarking Diagnostic Reasoning for Large Language Models

The emergence of groundbreaking large language models capable of performing complex reasoning tasks holds significant promise for addressing various scientific challenges, including those arising in complex clinical scenarios. To enable their safe and effective deployment in real-world healthcare settings, it is urgently necessary to benchmark the diagnostic capabilities of current models systematically. Given the limitations of existing medical benchmarks in evaluating advanced diagnostic reasoning, we present DiagnosisArena, a comprehensive and challenging benchmark designed to rigorously assess professional-level diagnostic competence. DiagnosisArena consists of 1,113 pairs of segmented patient cases and corresponding diagnoses, spanning 28 medical specialties, deriving from clinical case reports published in 10 top-tier medical journals. The benchmark is developed through a meticulous construction pipeline, involving multiple rounds of screening and review by both AI systems and human experts, with thorough checks conducted to prevent data leakage. Our study reveals that even the most advanced reasoning models, o3-mini, o1, and DeepSeek-R1, achieve only 45.82%, 31.09%, and 17.79% accuracy, respectively. This finding highlights a significant generalization bottleneck in current large language models when faced with clinical diagnostic reasoning challenges. Through DiagnosisArena, we aim to drive further advancements in AIs diagnostic reasoning capabilities, enabling more effective solutions for real-world clinical diagnostic challenges. We provide the benchmark and evaluation tools for further research and development https://github.com/SPIRAL-MED/DiagnosisArena.

  • 8 authors
·
May 20, 2025

A deep learning system for differential diagnosis of skin diseases

Skin conditions affect an estimated 1.9 billion people worldwide. A shortage of dermatologists causes long wait times and leads patients to seek dermatologic care from general practitioners. However, the diagnostic accuracy of general practitioners has been reported to be only 0.24-0.70 (compared to 0.77-0.96 for dermatologists), resulting in referral errors, delays in care, and errors in diagnosis and treatment. In this paper, we developed a deep learning system (DLS) to provide a differential diagnosis of skin conditions for clinical cases (skin photographs and associated medical histories). The DLS distinguishes between 26 skin conditions that represent roughly 80% of the volume of skin conditions seen in primary care. The DLS was developed and validated using de-identified cases from a teledermatology practice serving 17 clinical sites via a temporal split: the first 14,021 cases for development and the last 3,756 cases for validation. On the validation set, where a panel of three board-certified dermatologists defined the reference standard for every case, the DLS achieved 0.71 and 0.93 top-1 and top-3 accuracies respectively. For a random subset of the validation set (n=963 cases), 18 clinicians reviewed the cases for comparison. On this subset, the DLS achieved a 0.67 top-1 accuracy, non-inferior to board-certified dermatologists (0.63, p<0.001), and higher than primary care physicians (PCPs, 0.45) and nurse practitioners (NPs, 0.41). The top-3 accuracy showed a similar trend: 0.90 DLS, 0.75 dermatologists, 0.60 PCPs, and 0.55 NPs. These results highlight the potential of the DLS to augment general practitioners to accurately diagnose skin conditions by suggesting differential diagnoses that may not have been considered. Future work will be needed to prospectively assess the clinical impact of using this tool in actual clinical workflows.

  • 22 authors
·
Sep 11, 2019

SkinFlow: Efficient Information Transmission for Open Dermatological Diagnosis via Dynamic Visual Encoding and Staged RL

General-purpose Large Vision-Language Models (LVLMs), despite their massive scale, often falter in dermatology due to "diffuse attention" - the inability to disentangle subtle pathological lesions from background noise. In this paper, we challenge the assumption that parameter scaling is the only path to medical precision. We introduce SkinFlow, a framework that treats diagnosis as an optimization of visual information transmission efficiency. Our approach utilizes a Virtual-Width Dynamic Vision Encoder (DVE) to "unfold" complex pathological manifolds without physical parameter expansion, coupled with a two-stage Reinforcement Learning strategy. This strategy sequentially aligns explicit medical descriptions (Stage I) and reconstructs implicit diagnostic textures (Stage II) within a constrained semantic space. Furthermore, we propose a clinically grounded evaluation protocol that prioritizes diagnostic safety and hierarchical relevance over rigid label matching. Empirical results are compelling: our 7B model establishes a new state-of-the-art on the Fitzpatrick17k benchmark, achieving a +12.06% gain in Top-1 accuracy and a +28.57% boost in Top-6 accuracy over the massive general-purpose models (e.g., Qwen3VL-235B and GPT-5.2). These findings demonstrate that optimizing geometric capacity and information flow yields superior diagnostic reasoning compared to raw parameter scaling.

RareLens: Towards End-to-End Rare Disease Care via Aligning Divergent Large Language Model Reasoning

Rare diseases collectively affect an estimated 3.5% to 5.9% of the population, yet more than 70% of patients are misdiagnosed and many endure years of evaluation before a diagnosis is reached, because early presentations are nonspecific and relevant expertise is scarce and unevenly distributed. Artificial intelligence could provide support, but existing systems address isolated stages of care, overwhelmingly diagnosis. They typically depend on the results of downstream investigations, and they treat the variability between models as noise to be eliminated. Here we present RareLens, a system that supports clinical decision-making across the entire rare disease trajectory by exploiting this variability. When heterogeneous large language models evaluate the same case, they generate divergent but complementary reasoning, which RareLens aligns and calibrates into a single convergent, actionable decision at each stage. Four coordinated modules perform primary-visit risk screening, diagnosis, treatment planning and prognosis. Developed and evaluated on RareBench, a real-world dataset of 157,525 cases spanning all 33 Orphanet categories and more than 7,000 conditions, RareLens outperformed every frontier model tested, including GPT-5, DeepSeek-R1, Claude-3.7-Sonnet and Gemini-2.5-Pro, at each stage. It achieved an area under the curve of 0.917 for screening and top-1 accuracies of 65.5% and 89.8% for diagnosis and treatment. In an external study spanning 1,287 cases and 23 physicians, autonomous RareLens and physicians assisted by RareLens both substantially outperformed unaided physicians. These findings indicate that aligning divergent model reasoning, rather than scaling a single model, offers a generalizable strategy for high-uncertainty clinical decision-making.

  • 27 authors
·
Jul 24

GAZE: Grounded Agentic Zero-shot Evaluation with Viewer-Level Tools and Literature Retrieval on Rare Brain MRI

Vision-language models (VLMs) read an image and produce text in a single forward pass, whereas radiologists typically inspect an image several times and consult the literature before writing a report. We introduce GAZE (Grounded Agentic Zero-shot Evaluation), a framework that lets a medical VLM work in this iterative way by calling viewer-level tools (zoom, windowing, contrast, edge detection) and two retrieval tools backed by the U.S. National Library of Medicine (PubMed for medical literature, Open-i for radiological images), with structured outputs validated against a schema and full tool-call traces recorded for auditability. On NOVA, a benchmark of 906 brain MRI cases covering 281 rare neurological conditions, GAZE reaches 58.2 mean average precision (mAP) at intersection-over-union (IoU) 0.3 for lesion localisation and 34.9% Top-1 diagnostic accuracy under a joint protocol that scores captioning, diagnosis, and localisation from the image alone, without task-specific fine-tuning. Before any tool is used, structured prompting and schema-validated outputs already improve over the published Gemini 2.0 Flash baseline (20.2 to 29.4 mAP@0.3), so framework design is itself an experimental variable. Tool use helps rare pathologies disproportionately: the fraction of cases with IoU > 0.3 rises from 17% to 58% for diagnoses with three or fewer examples versus 25% to 68% for common conditions (geq10 cases), with gains tracking engagement (Gemini 3 Flash: Cohen's d = 0.79, 11.8 tool calls per case; Gemini 2.0 Flash: tools used in 8.2% of cases, no significant benefit). Retrieval ablations additionally reveal a model-dependent trade-off in which gains in diagnosis can coincide with losses in localisation, reinforcing the case for joint evaluation of diagnosis, localisation, and captioning in medical VLMs.

  • 3 authors
·
Apr 24

LogDx-CI: Benchmarking Log Reduction Tools for LLM Root-Cause Diagnosis

CI failure logs are large (median 5k lines, max 200k in this corpus) and noisy. Coding agents that try to debug them depend on an upstream tool to reduce the log to a manageable context, but the field has had no public empirical comparison of which reductions preserve enough evidence for downstream LLM diagnosis. We introduce LogDx-CI, a benchmark that compares 11 context-reduction tools (raw, tail, grep, three RTK modes, two real LLM map-reduce summarizers, three hybrid routers) on 35 real GitHub Actions failure cases, scored by 3 LLM debugger families (Claude Haiku 4.5, Claude Sonnet 4.6, OpenAI gpt-5-mini) plus a Sonnet 4.6 tool-using agent. We report three load-bearing findings. (1)~Hybrid grep+tail routers dominate the cost-quality Pareto frontier; the top two methods score 0.670 / 0.666 at sim \0.03 per case, same-ballpark quality as standalone grep at 4.5\times fewer tokens. (2)~In the agent-loop regime, the quality range across reduction tools collapses 7\times (single-shot spread 0.42 \to agent-loop spread 0.059); the agent rescues weak contexts via follow-up tool calls. However, cost differences persist: weak contexts force the agent to issue 2--4\times more tool calls to recover. (3)~A cross-family LLM-summary pair (gpt-5-mini summarizer feeding a Claude Haiku debugger) beats the same-family pair by +0.071 averaged across four diagnoser variants, falsifying the self-call-bias hypothesis on this task. The gpt-5-mini summarizer is also the agent-loop #1 method (score 0.749) at 0.37 tool-calls per case and 10\times lower reducer cost than the Haiku summarizer (0.18 vs \$1.75 per case). All data, code, per-case bundles, and reproducibility infrastructure are public.

  • 1 authors
·
May 25

ConsultMind:Towards Automated Diagnostic Consultation via Uncertainty-Aware Reasoning

Diagnostic consultation is an online sequential decision-making process in which clinicians gather evidence through patient interaction until a diagnosis is sufficiently supported. Automating this process requires adaptive inquiry and interpretable decisions. Bayesian networks offer a natural foundation by updating diagnostic posteriors as evidence accumulates, but their use in open-ended consultation raises two challenges: linking diagnostic hypotheses to potential inquiries and translating evolving posteriors into consultation decisions. We introduce AutoDisym, an automated pipeline that integrates diagnostic knowledge with heterogeneous diagnosis-labeled clinical narratives to construct a Disorder--Symptom Bayesian Network (DSBN). Building on the DSBN, we propose ConsultMind, an uncertainty-aware framework that updates disorder posteriors after each response and uses posterior uncertainty to guide inquiry and diagnosis. We evaluate both methods across psychiatry, respiratory medicine, fever clinics, and three public datasets. The results show that AutoDisym can automatically construct high-quality DSBNs and that ConsultMind consistently improves diagnostic performance and explanation soundness. For example, AutoDisym achieves macro-averaged F1 scores of 81.37 for canonical symptoms and 72.19 for manifestations using GPT-5.6-Sol. ConsultMind improves Top-1 and Top-3 diagnostic accuracy by up to 22.15 and 37.89 percentage points, respectively. Physician evaluation further shows that ConsultMind improves the quality of ranking explanations, differential diagnoses, and diagnosis rationales across LLMs of different scales. This work offers a promising approach to automatic diagnostic consultation.

  • 12 authors
·
Sep 24

What Really Works for Universal Multimodal Embeddings? A Controlled Study of Contrastive Training Strategies

Contrastive learning has become the standard paradigm for multimodal representation learning, aligning semantically matched pairs while separating mismatched ones in a shared embedding space. Although various contrastive training strategies have been proposed across negative selection, batch construction, and gradient modulation, their actual effectiveness under controlled, reproducible conditions remains poorly understood. This motivates a fundamental question: Do sophisticated contrastive strategies consistently bring meaningful downstream gains in multimodal embedding learning? To address this, we systematically evaluate representative strategies under a unified benchmarking framework on MMEB. Surprisingly, direct evaluations reveal that most existing strategies offer marginal gains over a standard aligned baseline, with several even degrading overall performance. To uncover the underlying failure modes, we introduce an MLLM-as-a-Judge diagnostic framework that dissects top-1 retrieval behaviors into labeled positives, false negatives (unlabeled valid matches), and hard/easy negative errors. Our systematic analysis yields three key insights: (1) Gradient distortion: Upweighting gradients from high-similarity negatives consistently hurts downstream generalization; (2) Distribution illusion: Wider separation between positive and negative similarity distributions does not necessarily translate to better retrieval performance; and (3) Synergistic training: While false-negative mitigation or hard-batch construction yields limited gains in isolation, integrating hard-negative mining, false-negative mitigation, and hard-batch construction achieves optimal performance, delivering an average improvement of 6.0% on MMEB with Qwen2-VL-2B. Overall, our findings demystify popular contrastive strategies and provide actionable recipes for training universal multimodal embedding models.

Diagnosing and Repairing Persona Collapse in LLM Advice

LLMs are increasingly used for personal advice on relationships, work, moral dilemmas, and crises. Post-training selects a stable, prosocial Assistant persona, but good advice requires more than a good default character: a skilled advisor comforts someone in crisis, challenges someone in denial, and stays procedural with a logistical question. We formalize advice-giving as situation-conditioned persona selection in a space defined by hedonic tone and agency support, and call failures of this mapping "persona collapse" (the compression of diverse situations into a single default persona). Across 1,281 advice posts spanning 14 contexts, top-rated human responses shift systematically across five personas, while three frontier models collapse over 90\% of responses into a single supportive persona regardless of context. Prompting the model to first pick a fitting persona only deepens the collapse. We then ask whether the collapse can be repaired. Our method, Inverse-Process Distillation, reconstructs the situational reading that could have produced each human response and trains on the result, aiming to distill the situation-to-persona policy rather than the answers. It cuts divergence from the human persona distribution by approximately 80\%. Yet in a blinded study, 199 experienced advice-givers rating responses across four situations in sequence prefer the collapsed default over every repaired model, most strongly when the situation calls for challenge, though this preference shifts with repeated exposures.

  • 4 authors
·
Jul 9

A Multi-Stage Fine-Tuning and Ensembling Strategy for Pancreatic Tumor Segmentation in Diagnostic and Therapeutic MRI

Automated segmentation of Pancreatic Ductal Adenocarcinoma (PDAC) from MRI is critical for clinical workflows but is hindered by poor tumor-tissue contrast and a scarcity of annotated data. This paper details our submission to the PANTHER challenge, addressing both diagnostic T1-weighted (Task 1) and therapeutic T2-weighted (Task 2) segmentation. Our approach is built upon the nnU-Net framework and leverages a deep, multi-stage cascaded pre-training strategy, starting from a general anatomical foundation model and sequentially fine-tuning on CT pancreatic lesion datasets and the target MRI modalities. Through extensive five-fold cross-validation, we systematically evaluated data augmentation schemes and training schedules. Our analysis revealed a critical trade-off, where aggressive data augmentation produced the highest volumetric accuracy, while default augmentations yielded superior boundary precision (achieving a state-of-the-art MASD of 5.46 mm and HD95 of 17.33 mm for Task 1). For our final submission, we exploited this finding by constructing custom, heterogeneous ensembles of specialist models, essentially creating a mix of experts. This metric-aware ensembling strategy proved highly effective, achieving a top cross-validation Tumor Dice score of 0.661 for Task 1 and 0.523 for Task 2. Our work presents a robust methodology for developing specialized, high-performance models in the context of limited data and complex medical imaging tasks (Team MIC-DKFZ).

  • 4 authors
·
Aug 28, 2025

Learning neuroimaging models from health system-scale data

Neuroimaging is a ubiquitous tool for evaluating patients with neurological diseases. The global demand for magnetic resonance imaging (MRI) studies has risen steadily, placing significant strain on health systems, prolonging turnaround times, and intensifying physician burnout. These challenges disproportionately impact patients in low-resource and rural settings. Here, we utilized a large academic health system as a data engine to develop Prima, the first vision language model (VLM) serving as an AI foundation for neuroimaging that supports real-world, clinical MRI studies as input. Trained on over 220,000 MRI studies, Prima uses a hierarchical vision architecture that provides general and transferable MRI features. Prima was tested in a 1-year health system-wide study that included 30K MRI studies. Across 52 radiologic diagnoses from the major neurologic disorders, including neoplastic, inflammatory, infectious, and developmental lesions, Prima achieved a mean diagnostic area under the ROC curve of 92.0, outperforming other state-of-the-art general and medical AI models. Prima offers explainable differential diagnoses, worklist priority for radiologists, and clinical referral recommendations across diverse patient demographics and MRI systems. Prima demonstrates algorithmic fairness across sensitive groups and can help mitigate health system biases, such as prolonged turnaround times for low-resource populations. These findings highlight the transformative potential of health system-scale VLMs and Prima's role in advancing AI-driven healthcare.

  • 21 authors
·
Sep 23, 2025

Right Prediction, Wrong Reasoning: Uncovering LLM Misalignment in RA Disease Diagnosis

Large language models (LLMs) offer a promising pre-screening tool, improving early disease detection and providing enhanced healthcare access for underprivileged communities. The early diagnosis of various diseases continues to be a significant challenge in healthcare, primarily due to the nonspecific nature of early symptoms, the shortage of expert medical practitioners, and the need for prolonged clinical evaluations, all of which can delay treatment and adversely affect patient outcomes. With impressive accuracy in prediction across a range of diseases, LLMs have the potential to revolutionize clinical pre-screening and decision-making for various medical conditions. In this work, we study the diagnostic capability of LLMs for Rheumatoid Arthritis (RA) with real world patients data. Patient data was collected alongside diagnoses from medical experts, and the performance of LLMs was evaluated in comparison to expert diagnoses for RA disease prediction. We notice an interesting pattern in disease diagnosis and find an unexpected misalignment between prediction and explanation. We conduct a series of multi-round analyses using different LLM agents. The best-performing model accurately predicts rheumatoid arthritis (RA) diseases approximately 95\% of the time. However, when medical experts evaluated the reasoning generated by the model, they found that nearly 68\% of the reasoning was incorrect. This study highlights a clear misalignment between LLMs high prediction accuracy and its flawed reasoning, raising important questions about relying on LLM explanations in clinical settings. LLMs provide incorrect reasoning to arrive at the correct answer for RA disease diagnosis.

  • 7 authors
·
Apr 9, 2025