An Interpretable Clinical Decision Support System Aims to Stage Age-Related Macular Degeneration Using Deep Learning and Imaging Biomarkers

The use of intelligent clinical decision support systems (CDSS) has the potential to improve the accuracy and speed of diagnoses significantly. These systems can analyze a patient’s medical data and generate comprehensive reports that help specialists better understand and evaluate the current clinical scenario. This capability is particularly important when dealing with medical images, as the heavy workload on healthcare professionals can hinder their ability to notice critical biomarkers, which may be difficult to detect with the naked eye due to stress and fatigue. Implementing a CDSS that uses computer vision (CV) techniques can alleviate this challenge. However, one of the main obstacles to the widespread use of CV and intelligent analysis methods in medical diagnostics is the lack of a clear understanding among diagnosticians of how these systems operate. A better understanding of their functioning and of the reliability of the identified biomarkers will enable medical professionals to more effectively address clinical problems. Additionally, it is essential to tailor the training process of machine learning models to medical data, which are often imbalanced due to varying probabilities of disease detection. Neglecting this factor can compromise the quality of the developed CDSS. This article presents the development of a CDSS module focused on diagnosing age-related macular degeneration. Unlike traditional methods that classify diseases or their stages based on optical coherence tomography (OCT) images, the proposed CDSS provides a more sophisticated and accurate analysis of biomarkers detected through a deep neural network. This approach combines interpretative reasoning with highly accurate models, although these models can be complex to describe. To address the issue of class imbalance, an algorithm was developed to optimally select biomarkers, taking into account both their statistical and clinical significance. As a result, the algorithm prioritizes the selection of classes that ensure high model accuracy while maintaining clinically relevant responses generated by the CDSS module. The results indicate that the overall accuracy of staging age-related macular degeneration increased by 63.3% compared with traditional methods of direct stage classification using a similar machine learning model. This improvement suggests that the CDSS module can significantly enhance disease diagnosis, particularly in situations with class imbalance in the original dataset. To improve interpretability, the process of determining the most likely disease stage was organized into two steps. At each step, the diagnostician could visually access information explaining the reasoning behind the intelligent diagnosis, thereby assisting experts in understanding the basis for clinical decision-making.