Cancan Xue

Qingyu Chen, Tiarnan D L Keenan, Elvira Agron et al.

Timely disease diagnosis is challenging due to increasing disease burdens and limited clinician availability. AI shows promise in diagnosis accuracy but faces real-world application issues due to insufficient validation in clinical workflows and diverse populations. This study addresses gaps in medical AI downstream accountability through a case study on age-related macular degeneration (AMD) diagnosis and severity classification. We designed and implemented an AI-assisted diagnostic workflow for AMD, comparing diagnostic performance with and without AI assistance among 24 clinicians from 12 institutions with real patient data sampled from the Age-Related Eye Disease Study (AREDS). Additionally, we demonstrated continual enhancement of an existing AI model by incorporating approximately 40,000 additional medical images (named AREDS2 dataset). The improved model was then systematically evaluated using both AREDS and AREDS2 test sets, as well as an external test set from Singapore. AI assistance markedly enhanced diagnostic accuracy and classification for 23 out of 24 clinicians, with the average F1-score increasing by 20% from 37.71 (Manual) to 45.52 (Manual + AI) (P-value < 0.0001), achieving an improvement of over 50% in some cases. In terms of efficiency, AI assistance reduced diagnostic times for 17 out of the 19 clinicians tracked, with time savings of up to 40%. Furthermore, a model equipped with continual learning showed robust performance across three independent datasets, recording a 29% increase in accuracy, and elevating the F1-score from 42 to 54 in the Singapore population.

Samantha Min Er Yew, Xiaofeng Lei, Jocelyn Hui Lin Goh et al.

Background: RETFound, a self-supervised, retina-specific foundation model (FM), showed potential in downstream applications. However, its comparative performance with traditional deep learning (DL) models remains incompletely understood. This study aimed to evaluate RETFound against three ImageNet-pretrained supervised DL models (ResNet50, ViT-base, SwinV2) in detecting ocular and systemic diseases. Methods: We fine-tuned/trained RETFound and three DL models on full datasets, 50%, 20%, and fixed sample sizes (400, 200, 100 images, with half comprising disease cases; for each DR severity class, 100 and 50 cases were used. Fine-tuned models were tested internally using the SEED (53,090 images) and APTOS-2019 (3,672 images) datasets and externally validated on population-based (BES, CIEMS, SP2, UKBB) and open-source datasets (ODIR-5k, PAPILA, GAMMA, IDRiD, MESSIDOR-2). Model performance was compared using area under the receiver operating characteristic curve (AUC) and Z-tests with Bonferroni correction (P<0.05/3). Interpretation: Traditional DL models are mostly comparable to RETFound for ocular disease detection with large datasets. However, RETFound is superior in systemic disease detection with smaller datasets. These findings offer valuable insights into the respective merits and limitation of traditional models and FMs.

Meng Wang, Tian Lin, Qingshan Hou et al.

Artificial intelligence (AI) shows remarkable potential in medical imaging diagnostics, yet most current models require retraining when applied across different clinical settings, limiting their scalability. We introduce GlobeReady, a clinician-friendly AI platform that enables fundus disease diagnosis that operates without retraining, fine-tuning, or the needs for technical expertise. GlobeReady demonstrates high accuracy across imaging modalities: 93.9-98.5% for 11 fundus diseases using color fundus photographs (CPFs) and 87.2-92.7% for 15 fundus diseases using optic coherence tomography (OCT) scans. By leveraging training-free local feature augmentation, GlobeReady platform effectively mitigates domain shifts across centers and populations, achieving accuracies of 88.9-97.4% across five centers on average in China, 86.3-96.9% in Vietnam, and 73.4-91.0% in Singapore, and 90.2-98.9% in the UK. Incorporating a bulit-in confidence-quantifiable diagnostic mechanism further enhances the platform's accuracy to 94.9-99.4% with CFPs and 88.2-96.2% with OCT, while enabling identification of out-of-distribution cases with 86.3% accuracy across 49 common and rare fundus diseases using CFPs, and 90.6% accuracy across 13 diseases using OCT. Clinicians from countries rated GlobeReady highly for usability and clinical relevance (average score 4.6/5). These findings demonstrate GlobeReady's robustness, generalizability and potential to support global ophthalmic care without technical barriers.