The implementation of clinical-decision support algorithms for medical imaging faces challenges with reliability and interpretability. Here, we establish a diagnostic tool based on a deep-learning framework for the screening of patients with common treatable blinding retinal diseases. Our framework utilizes transfer learning, which trains a neural network with a fraction of the data of conventional approaches. Applying this approach to a dataset of optical coherence tomography images, we demonstrate performance comparable to that of human experts in classifying age-related macular degeneration and diabetic macular edema. We also provide a more transparent and interpretable diagnosis by highlighting the regions recognized by the neural network. We further demonstrate the general applicability of our AI system for diagnosis of pediatric pneumonia using chest X-ray images. This tool may ultimately aid in expediting the diagnosis and referral of these treatable conditions, thereby facilitating earlier treatment, resulting in improved clinical outcomes. VIDEO ABSTRACT.

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Regular health screening plays a crucial role in the early detection of common chronic diseases and prevention of their progression. An AI system capable of recapitulating early disease detection, staging and incidence prediction would help to improve healthcare access and delivery, particularly in resource-poor or remote settings. Using a total of 115,344 retinal fundus photographs from 57,672 patients (with data split into mutually exclusive training, internal testing, and external validation sets), we first developed AI models capable of identifying chronic kidney disease (CKD) and type 2 diabetes mellitus (T2DM) based on fundus images. The AI system was shown to be capable of predicting the clinical indicators of CKD and T2DM (including eGFR and blood glucose levels), which indicates its potential for extracting quantitative clinical metrics embedded subtly within retinal fundus images. We further developed an AI system to predict the risk of disease progression using baseline images of 10,269 patients for whom longitudinal clinical data were available for up to 6 years, which demonstrated potential utility in optimizing health screening intervals and clinical management. The generalizability of the AI system in identifying and predicting the progression of CKD and T2DM was evaluated using population-based external validation cohorts. Moreover, a prospective pilot study with 3,081 patients was also conducted to demonstrate the broader applicability of the AI system at the 'point-of-care' using fundus images captured with smartphones. The results provide proof-of-concept for a reliable and non-invasive AI-based clinical screening tool based on fundus photographs for the early detection and incidence prediction of two common systemic diseases.

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