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RareBench: Can LLMs Serve as Rare Diseases Specialists?
Feb 09, 2024
Generalist Large Language Models (LLMs), such as GPT-4, have shown considerable promise in various domains, including medical diagnosis. Rare diseases, affecting approximately 300 million people worldwide, often have unsatisfactory clinical diagnosis rates primarily due to a lack of experienced physicians and the complexity of differentiating among many rare diseases. In this context, recent news such as "ChatGPT correctly diagnosed a 4-year-old's rare disease after 17 doctors failed" underscore LLMs' potential, yet underexplored, role in clinically diagnosing rare diseases. To bridge this research gap, we introduce RareBench, a pioneering benchmark designed to systematically evaluate the capabilities of LLMs on 4 critical dimensions within the realm of rare diseases. Meanwhile, we have compiled the largest open-source dataset on rare disease patients, establishing a benchmark for future studies in this domain. To facilitate differential diagnosis of rare diseases, we develop a dynamic few-shot prompt methodology, leveraging a comprehensive rare disease knowledge graph synthesized from multiple knowledge bases, significantly enhancing LLMs' diagnostic performance. Moreover, we present an exhaustive comparative study of GPT-4's diagnostic capabilities against those of specialist physicians. Our experimental findings underscore the promising potential of integrating LLMs into the clinical diagnostic process for rare diseases. This paves the way for exciting possibilities in future advancements in this field.
Pre-trained Universal Medical Image Transformer
Dec 12, 2023Self-supervised learning has emerged as a viable method to leverage the abundance of unlabeled medical imaging data, addressing the challenge of labeled data scarcity in medical image analysis. In particular, masked image modeling (MIM) with visual token reconstruction has shown promising results in the general computer vision (CV) domain and serves as a candidate for medical image analysis. However, the presence of heterogeneous 2D and 3D medical images often limits the volume and diversity of training data that can be effectively used for a single model structure. In this work, we propose a spatially adaptive convolution (SAC) module, which adaptively adjusts convolution parameters based on the voxel spacing of the input images. Employing this SAC module, we build a universal visual tokenizer and a universal Vision Transformer (ViT) capable of effectively processing a wide range of medical images with various imaging modalities and spatial properties. Moreover, in order to enhance the robustness of the visual tokenizer's reconstruction objective for MIM, we suggest to generalize the discrete token output of the visual tokenizer to a probabilistic soft token. We show that the generalized soft token representation can be effectively integrated with the prior distribution regularization through a constructive interpretation. As a result, we pre-train a universal visual tokenizer followed by a universal ViT via visual token reconstruction on 55 public medical image datasets, comprising over 9 million 2D slices (including over 48,000 3D images). This represents the largest, most comprehensive, and diverse dataset for pre-training 3D medical image models to our knowledge. Experimental results on downstream medical image classification and segmentation tasks demonstrate the superior performance of our model and improved label efficiency.