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Wei-Qi Wei

Publications and source records attributed to Wei-Qi Wei.

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Teaching agentic AI to generalize expert diagnostic reasoning in rare diseases

Rare disease diagnosis depends on expert reasoning that is scarce and difficult to transfer. Large language models rank the correct disease first in only 35.4% of benchmark cases and often rely on learned phenotype-disease associations rather than reusable diagnostic reasoning strategies. We developed liteOdyssey through Policy Iteration with Human Feedback, a process in which model failures and expert corrections are iteratively consolidated into a clinician-gated, natural-language policy executed by a language model. Across 1,243 public benchmark cases spanning 722 rare diseases, liteOdyssey ranked the correct disease first in 59.3% of cases versus 26.5% without the policy, with comparable gains in cases involving diseases excluded from policy development. The same policy transferred across model families and sizes without retraining. Adaptation of the policy to the Undiagnosed Diseases Network (UDN) improved diagnostic accuracy among 515 UDN patients, with gains confirmed by blinded physician adjudication. These results show that expert reasoning can be externalized into an inspectable and revisable natural-language policy that generalizes across rare diseases, transfers across model backbones, and adapts to a real-world patient cohort.

cs.AI

MedFoundationHub: A Lightweight and Secure Toolkit for Deploying Medical Vision Language Foundation Models

Recent advances in medical vision-language models (VLMs) open up remarkable opportunities for clinical applications such as automated report generation, copilots for physicians, and uncertainty quantification. However, despite their promise, medical VLMs introduce serious security concerns, most notably risks of Protected Health Information (PHI) exposure, data leakage, and vulnerability to cyberthreats - which are especially critical in hospital environments. Even when adopted for research or non-clinical purposes, healthcare organizations must exercise caution and implement safeguards. To address these challenges, we present MedFoundationHub, a graphical user interface (GUI) toolkit that: (1) enables physicians to manually select and use different models without programming expertise, (2) supports engineers in efficiently deploying medical VLMs in a plug-and-play fashion, with seamless integration of Hugging Face open-source models, and (3) ensures privacy-preserving inference through Docker-orchestrated, operating system agnostic deployment. MedFoundationHub requires only an offline local workstation equipped with a single NVIDIA A6000 GPU, making it both secure and accessible within the typical resources of academic research labs. To evaluate current capabilities, we engaged board-certified pathologists to deploy and assess five state-of-the-art VLMs (Google-MedGemma3-4B, Qwen2-VL-7B-Instruct, Qwen2.5-VL-7B-Instruct, and LLaVA-1.5-7B/13B). Expert evaluation covered colon cases and renal cases, yielding 1015 clinician-model scoring events. These assessments revealed recurring limitations, including off-target answers, vague reasoning, and inconsistent pathology terminology.

cs.CV

Natural language processing to identify lupus nephritis phenotype in electronic health records

Systemic lupus erythematosus (SLE) is a rare autoimmune disorder characterized by an unpredictable course of flares and remission with diverse manifestations. Lupus nephritis, one of the major disease manifestations of SLE for organ damage and mortality, is a key component of lupus classification criteria. Accurately identifying lupus nephritis in electronic health records (EHRs) would therefore benefit large cohort observational studies and clinical trials where characterization of the patient population is critical for recruitment, study design, and analysis. Lupus nephritis can be recognized through procedure codes and structured data, such as laboratory tests. However, other critical information documenting lupus nephritis, such as histologic reports from kidney biopsies and prior medical history narratives, require sophisticated text processing to mine information from pathology reports and clinical notes. In this study, we developed algorithms to identify lupus nephritis with and without natural language processing (NLP) using EHR data. We developed four algorithms: a rule-based algorithm using only structured data (baseline algorithm) and three algorithms using different NLP models. The three NLP models are based on regularized logistic regression and use different sets of features including positive mention of concept unique identifiers (CUIs), number of appearances of CUIs, and a mixture of three components respectively. The baseline algorithm and the best performed NLP algorithm were external validated on a dataset from Vanderbilt University Medical Center (VUMC). Our best performing NLP model incorporating features from both structured data, regular expression concepts, and mapped CUIs improved F measure in both the NMEDW (0.41 vs 0.79) and VUMC (0.62 vs 0.96) datasets compared to the baseline lupus nephritis algorithm.

cs.LG

Characterizing Design Patterns of EHR-Driven Phenotype Extraction Algorithms

The automatic development of phenotype algorithms from Electronic Health Record data with machine learning (ML) techniques is of great interest given the current practice is very time-consuming and resource intensive. The extraction of design patterns from phenotype algorithms is essential to understand their rationale and standard, with great potential to automate the development process. In this pilot study, we perform network visualization on the design patterns and their associations with phenotypes and sites. We classify design patterns using the fragments from previously annotated phenotype algorithms as the ground truth. The classification performance is used as a proxy for coherence at the attribution level. The bag-of-words representation with knowledge-based features generated a good performance in the classification task (0.79 macro-f1 scores). Good classification accuracy with simple features demonstrated the attribution coherence and the feasibility of automatic identification of design patterns. Our results point to both the feasibility and challenges of automatic identification of phenotyping design patterns, which would power the automatic development of phenotype algorithms.

cs.CL