H. Peter Soyer

Xieji Li, Siyuan Yan, Yingsheng Liu et al.

Vision-language pretraining (VLP) has emerged as a powerful paradigm in medical image analysis, enabling representation learning from large-scale image-text pairs without relying on expensive manual annotations. However, existing methods often struggle with the noise inherent in web-collected data and the complexity of unstructured long medical texts. To address these challenges, we propose a novel VLP framework integrating a Multi-Agent data GENeration (MAGEN) system and Ontology-based Multi-Aspect Knowledge-Enhanced (O-MAKE) pretraining. First, MAGEN enhances data quality by synthesizing knowledge-enriched descriptions via a foundation model-assisted captioning and retrieval-based verification pipeline. Second, O-MAKE addresses the difficulty of learning from long, unstructured texts by decomposing them into distinct knowledge aspects. This facilitates fine-grained alignment at both global and patch levels, while explicitly modeling medical concept relationships through ontology-guided mechanisms. We validate our framework in the field of dermatology, where comprehensive experiments demonstrate the effectiveness of each component. Our approach achieves state-of-the-art zero-shot performance on disease classification and cross-modal retrieval tasks across eight datasets. Our code and the augmented dataset Derm1M-AgentAug, comprising over 400k skin-image-text pairs, will be released at https://github.com/SiyuanYan1/Derm1M.

Siyuan Yan, Xieji Li, Dan Mo et al.

Medical foundation models have shown promise in controlled benchmarks, yet widespread deployment remains hindered by reliance on task-specific fine-tuning. Here, we introduce DermFM-Zero, a dermatology vision-language foundation model trained via masked latent modelling and contrastive learning on over 4 million multimodal data points. We evaluated DermFM-Zero across 20 benchmarks spanning zero-shot diagnosis and multimodal retrieval, achieving state-of-the-art performance without task-specific adaptation. We further evaluated its zero-shot capabilities in three multinational reader studies involving over 1,100 clinicians. In primary care settings, AI assistance enabled general practitioners to nearly double their differential diagnostic accuracy across 98 skin conditions. In specialist settings, the model significantly outperformed board-certified dermatologists in multimodal skin cancer assessment. In collaborative workflows, AI assistance enabled non-experts to surpass unassisted experts while improving management appropriateness. Finally, we show that DermFM-Zero's latent representations are interpretable: sparse autoencoders unsupervisedly disentangle clinically meaningful concepts that outperform predefined-vocabulary approaches and enable targeted suppression of artifact-induced biases, enhancing robustness without retraining. These findings demonstrate that a foundation model can provide effective, safe, and transparent zero-shot clinical decision support.

Nathasha Naranpanawa, H. Peter Soyer, Adam Mothershaw et al.

An ugly duckling is an obviously different skin lesion from surrounding lesions of an individual, and the ugly duckling sign is a criterion used to aid in the diagnosis of cutaneous melanoma by differentiating between highly suspicious and benign lesions. However, the appearance of pigmented lesions, can change drastically from one patient to another, resulting in difficulties in visual separation of ugly ducklings. Hence, we propose DMT-Quadruplet - a deep metric learning network to learn lesion features at two tiers - patient-level and lesion-level. We introduce a patient-specific quadruplet mining approach together with a tiered quadruplet network, to drive the network to learn more contextual information both globally and locally between the two tiers. We further incorporate a dynamic margin within the patient-specific mining to allow more useful quadruplets to be mined within individuals. Comprehensive experiments show that our proposed method outperforms traditional classifiers, achieving 54% higher sensitivity than a baseline ResNet18 CNN and 37% higher than a naive triplet network in classifying ugly duckling lesions. Visualisation of the data manifold in the metric space further illustrates that DMT-Quadruplet is capable of classifying ugly duckling lesions in both patient-specific and patient-agnostic manner successfully.

Siyuan Yan, Zhen Yu, Clare Primiero et al.

Diagnosing and treating skin diseases require advanced visual skills across domains and the ability to synthesize information from multiple imaging modalities. While current deep learning models excel at specific tasks like skin cancer diagnosis from dermoscopic images, they struggle to meet the complex, multimodal requirements of clinical practice. Here, we introduce PanDerm, a multimodal dermatology foundation model pretrained through self-supervised learning on over 2 million real-world skin disease images from 11 clinical institutions across 4 imaging modalities. We evaluated PanDerm on 28 diverse benchmarks, including skin cancer screening, risk stratification, differential diagnosis of common and rare skin conditions, lesion segmentation, longitudinal monitoring, and metastasis prediction and prognosis. PanDerm achieved state-of-the-art performance across all evaluated tasks, often outperforming existing models when using only 10% of labeled data. We conducted three reader studies to assess PanDerm's potential clinical utility. PanDerm outperformed clinicians by 10.2% in early-stage melanoma detection through longitudinal analysis, improved clinicians' skin cancer diagnostic accuracy by 11% on dermoscopy images, and enhanced non-dermatologist healthcare providers' differential diagnosis by 16.5% across 128 skin conditions on clinical photographs. These results demonstrate PanDerm's potential to improve patient care across diverse clinical scenarios and serve as a model for developing multimodal foundation models in other medical specialties, potentially accelerating the integration of AI support in healthcare. The code can be found at https://github.com/SiyuanYan1/PanDerm.

Thao Le, Tim Miller, Liz Sonenberg et al.

This paper presents a hypothesis-driven approach to improve AI-supported decision-making that is based on the Evaluative AI paradigm - a conceptual framework that proposes providing users with evidence for or against a given hypothesis. We propose an implementation of Evaluative AI by extending the Weight of Evidence framework, leading to hypothesis-driven models that support both tabular and image data. We demonstrate the application of the new decision-support approach in two domains: housing price prediction and skin cancer diagnosis. The findings show promising results in improving human decisions, as well as providing insights on the strengths and weaknesses of different decision-support approaches.

Anup Saha, Joseph Adeola, Nuria Ferrera et al.

Artificial intelligence has significantly advanced skin cancer diagnosis by enabling rapid and accurate detection of malignant lesions. In this domain, most publicly available image datasets consist of single, isolated skin lesions positioned at the center of the image. While these lesion-centric datasets have been fundamental for developing diagnostic algorithms, they lack the context of the surrounding skin, which is critical for improving lesion detection. The iToBoS dataset was created to address this challenge. It includes 16,954 images of skin regions from 100 participants, captured using 3D total body photography. Each image roughly corresponds to a $7 \times 9$ cm section of skin with all suspicious lesions annotated using bounding boxes. Additionally, the dataset provides metadata such as anatomical location, age group, and sun damage score for each image. This dataset aims to facilitate training and benchmarking of algorithms, with the goal of enabling early detection of skin cancer and deployment of this technology in non-clinical environments.

Fatima Al Zegair, Nathasha Naranpanawa, Brigid Betz-Stablein et al.

Skin lesions known as naevi exhibit diverse characteristics such as size, shape, and colouration. The concept of an "Ugly Duckling Naevus" comes into play when monitoring for melanoma, referring to a lesion with distinctive features that sets it apart from other lesions in the vicinity. As lesions within the same individual typically share similarities and follow a predictable pattern, an ugly duckling naevus stands out as unusual and may indicate the presence of a cancerous melanoma. Computer-aided diagnosis (CAD) has become a significant player in the research and development field, as it combines machine learning techniques with a variety of patient analysis methods. Its aim is to increase accuracy and simplify decision-making, all while responding to the shortage of specialized professionals. These automated systems are especially important in skin cancer diagnosis where specialist availability is limited. As a result, their use could lead to life-saving benefits and cost reductions within healthcare. Given the drastic change in survival when comparing early stage to late-stage melanoma, early detection is vital for effective treatment and patient outcomes. Machine learning (ML) and deep learning (DL) techniques have gained popularity in skin cancer classification, effectively addressing challenges, and providing results equivalent to that of specialists. This article extensively covers modern Machine Learning and Deep Learning algorithms for detecting melanoma and suspicious naevi. It begins with general information on skin cancer and different types of naevi, then introduces AI, ML, DL, and CAD. The article then discusses the successful applications of various ML techniques like convolutional neural networks (CNN) for melanoma detection compared to dermatologists' performance. Lastly, it examines ML methods for UD naevus detection and identifying suspicious naevi.

Veronica Rotemberg, Nicholas Kurtansky, Brigid Betz-Stablein et al.

Prior skin image datasets have not addressed patient-level information obtained from multiple skin lesions from the same patient. Though artificial intelligence classification algorithms have achieved expert-level performance in controlled studies examining single images, in practice dermatologists base their judgment holistically from multiple lesions on the same patient. The 2020 SIIM-ISIC Melanoma Classification challenge dataset described herein was constructed to address this discrepancy between prior challenges and clinical practice, providing for each image in the dataset an identifier allowing lesions from the same patient to be mapped to one another. This patient-level contextual information is frequently used by clinicians to diagnose melanoma and is especially useful in ruling out false positives in patients with many atypical nevi. The dataset represents 2,056 patients from three continents with an average of 16 lesions per patient, consisting of 33,126 dermoscopic images and 584 histopathologically confirmed melanomas compared with benign melanoma mimickers.