DDxT: Deep Generative Transformer Models for Differential Diagnosis

Abstract

Differential Diagnosis (DDx) is the process of identifying the most likely medical condition among the possible pathologies through the process of elimination based on evidence. An automated process that narrows a large set of pathologies down to the most likely pathologies will be of great importance. The primary prior works have relied on the Reinforcement Learning (RL) paradigm under the intuition that it aligns better with how physicians perform DDx. In this paper, we show that a generative approach trained with simpler supervised and self-supervised learning signals can achieve superior results on the current benchmark. The proposed Transformer-based generative network, named DDxT, autoregressively produces a set of possible pathologies, i.e., DDx, and predicts the actual pathology using a neural network. Experiments are performed using the DDXPlus dataset. In the case of DDx, the proposed network has achieved a mean accuracy of $99.82\%$ and a mean F1 score of $0.9472$. Additionally, mean accuracy reaches $99.98\%$ with a mean F1 score of $0.9949$ while predicting ground truth pathology. The proposed DDxT outperformed the previous RL-based approaches by a big margin. Overall, the automated Transformer-based DDx generative model has the potential to become a useful tool for a physician in times of urgency.