Tien Yin Wong

Jianing Qiu, Jian Wu, Hao Wei et al.

We present VisionFM, a foundation model pre-trained with 3.4 million ophthalmic images from 560,457 individuals, covering a broad range of ophthalmic diseases, modalities, imaging devices, and demography. After pre-training, VisionFM provides a foundation to foster multiple ophthalmic artificial intelligence (AI) applications, such as disease screening and diagnosis, disease prognosis, subclassification of disease phenotype, and systemic biomarker and disease prediction, with each application enhanced with expert-level intelligence and accuracy. The generalist intelligence of VisionFM outperformed ophthalmologists with basic and intermediate levels in jointly diagnosing 12 common ophthalmic diseases. Evaluated on a new large-scale ophthalmic disease diagnosis benchmark database, as well as a new large-scale segmentation and detection benchmark database, VisionFM outperformed strong baseline deep neural networks. The ophthalmic image representations learned by VisionFM exhibited noteworthy explainability, and demonstrated strong generalizability to new ophthalmic modalities, disease spectrum, and imaging devices. As a foundation model, VisionFM has a large capacity to learn from diverse ophthalmic imaging data and disparate datasets. To be commensurate with this capacity, in addition to the real data used for pre-training, we also generated and leveraged synthetic ophthalmic imaging data. Experimental results revealed that synthetic data that passed visual Turing tests, can also enhance the representation learning capability of VisionFM, leading to substantial performance gains on downstream ophthalmic AI tasks. Beyond the ophthalmic AI applications developed, validated, and demonstrated in this work, substantial further applications can be achieved in an efficient and cost-effective manner using VisionFM as the foundation.

Ting Fang Tan, Kabilan Elangovan, Jasmine Ong et al.

A comprehensive qualitative evaluation framework for large language models (LLM) in healthcare that expands beyond traditional accuracy and quantitative metrics needed. We propose 5 key aspects for evaluation of LLMs: Safety, Consensus, Objectivity, Reproducibility and Explainability (S.C.O.R.E.). We suggest that S.C.O.R.E. may form the basis for an evaluation framework for future LLM-based models that are safe, reliable, trustworthy, and ethical for healthcare and clinical applications.

Haichao Chen, Songchi Zhou, Zhengyun Zhao et al.

Rare diseases affect millions of individuals worldwide, yet timely diagnosis remains a major public health challenge due to scarcity of specialized clinical expertise. While large language models (LLMs) show promise to support rare disease diagnosis, current models are constrained by insufficient clinical deployability, limited clinically grounded evidence, and scarcity of training data. Here we present RaDaR (Rare Disease navigatoR), an open-source, compact reasoning LLM (32B parameters) for rare disease diagnosis. RaDaR was trained with 49,170 publicly available free-text cases and 104,666 synthetic cases with reasoning-enhanced training. RaDaR showed the strongest performance among evaluated open-source models, including the 671B DeepSeek-R1, across public benchmarks and four external validation centers. In a retrospective cohort, RaDaR prioritized the final diagnosis before documented clinical suspicion in 61.06 percent of cases, corresponding to a potential lead time of 1.87 months and 50.18 percent of the within-center interval. In a randomized physician-assistance trial, RaDaR assistance improved physicians' rare-disease diagnostic accuracy by 21.44 percentage points compared with internet search alone. Synthetic-data ablations suggested that phenotype-anchored narratives provide useful training signal for long-tail rare diseases, with a monotonic scaling trend within the tested data range. Together, RaDaR and its development and validation framework provide a deployable rare-disease reasoning model and a reproducible development framework for diagnostic AI under data scarcity.

Guang-Bin Huang, M. Brandon Westover, Eng-King Tan et al.

Artificial Intelligence (AI) has apparently become one of the most important techniques discovered by humans in history while the human brain is widely recognized as one of the most complex systems in the universe. One fundamental critical question which would affect human sustainability remains open: Will artificial intelligence (AI) evolve to surpass human intelligence in the future? This paper shows that in theory new AI twins with fresh cellular level of AI techniques for neuroscience could approximate the brain and its functioning systems (e.g. perception and cognition functions) with any expected small error and AI without restrictions could surpass human intelligence with probability one in the end. This paper indirectly proves the validity of the conjecture made by Frank Rosenblatt 70 years ago about the potential capabilities of AI, especially in the realm of artificial neural networks. Intelligence is just one of fortuitous but sophisticated creations of the nature which has not been fully discovered. Like mathematics and physics, with no restrictions artificial intelligence would lead to a new subject with its self-contained systems and principles. We anticipate that this paper opens new doors for 1) AI twins and other AI techniques to be used in cellular level of efficient neuroscience dynamic analysis, functioning analysis of the brain and brain illness solutions; 2) new worldwide collaborative scheme for interdisciplinary teams concurrently working on and modelling different types of neurons and synapses and different level of functioning subsystems of the brain with AI techniques; 3) development of low energy of AI techniques with the aid of fundamental neuroscience properties; and 4) new controllable, explainable and safe AI techniques with reasoning capabilities of discovering principles in nature.

Yang Bai, Haoran Cheng, Yang Zhou et al.

Despite the promise of foundation models in medical AI, current systems remain limited - they are modality-specific and lack transparent reasoning processes, hindering clinical adoption. To address this gap, we present EVLF-FM, a multimodal vision-language foundation model (VLM) designed to unify broad diagnostic capability with fine-grain explainability. The development and testing of EVLF-FM encompassed over 1.3 million total samples from 23 global datasets across eleven imaging modalities related to six clinical specialties: dermatology, hepatology, ophthalmology, pathology, pulmonology, and radiology. External validation employed 8,884 independent test samples from 10 additional datasets across five imaging modalities. Technically, EVLF-FM is developed to assist with multiple disease diagnosis and visual question answering with pixel-level visual grounding and reasoning capabilities. In internal validation for disease diagnostics, EVLF-FM achieved the highest average accuracy (0.858) and F1-score (0.797), outperforming leading generalist and specialist models. In medical visual grounding, EVLF-FM also achieved stellar performance across nine modalities with average mIOU of 0.743 and Acc@0.5 of 0.837. External validations further confirmed strong zero-shot and few-shot performance, with competitive F1-scores despite a smaller model size. Through a hybrid training strategy combining supervised and visual reinforcement fine-tuning, EVLF-FM not only achieves state-of-the-art accuracy but also exhibits step-by-step reasoning, aligning outputs with visual evidence. EVLF-FM is an early multi-disease VLM model with explainability and reasoning capabilities that could advance adoption of and trust in foundation models for real-world clinical deployment.

Yukun Zhou, Paul Nderitu, Jocelyn Hui Lin Goh et al.

Medical foundation models, pre-trained with large-scale clinical data, demonstrate strong performance in diverse clinically relevant applications. RETFound, trained on nearly one million retinal images, exemplifies this approach in applications with retinal images. However, the emergence of increasingly powerful and multifold larger generalist foundation models such as DINOv2 and DINOv3 raises the question of whether domain-specific pre-training remains essential, and if so, what gap persists. To investigate this, we systematically evaluated the adaptability of DINOv2 and DINOv3 in retinal image applications, compared to two specialist RETFound models, RETFound-MAE and RETFound-DINOv2. We assessed performance on ocular disease detection and systemic disease prediction using two adaptation strategies: fine-tuning and linear probing. Data efficiency and adaptation efficiency were further analysed to characterise trade-offs between predictive performance and computational cost. Our results show that although scaling generalist models yields strong adaptability across diverse tasks, RETFound-DINOv2 consistently outperforms these generalist foundation models in ocular-disease detection and oculomics tasks, demonstrating stronger generalisability and data efficiency. These findings suggest that specialist retinal foundation models remain the most effective choice for clinical applications, while the narrowing gap with generalist foundation models suggests that continued data and model scaling can deliver domain-relevant gains and position them as strong foundations for future medical foundation models.

Yang Zhou, Chrystie Wan Ning Quek, Jun Zhou et al.

Current artificial intelligence models for medical imaging are predominantly single modality and single disease. Attempts to create multimodal and multi-disease models have resulted in inconsistent clinical accuracy. Furthermore, training these models typically requires large, labour-intensive, well-labelled datasets. We developed MerMED-FM, a state-of-the-art multimodal, multi-specialty foundation model trained using self-supervised learning and a memory module. MerMED-FM was trained on 3.3 million medical images from over ten specialties and seven modalities, including computed tomography (CT), chest X-rays (CXR), ultrasound (US), pathology patches, color fundus photography (CFP), optical coherence tomography (OCT) and dermatology images. MerMED-FM was evaluated across multiple diseases and compared against existing foundational models. Strong performance was achieved across all modalities, with AUROCs of 0.988 (OCT); 0.982 (pathology); 0.951 (US); 0.943 (CT); 0.931 (skin); 0.894 (CFP); 0.858 (CXR). MerMED-FM has the potential to be a highly adaptable, versatile, cross-specialty foundation model that enables robust medical imaging interpretation across diverse medical disciplines.