Modelling Patient Sequences for Rare Disease Detection with Semi-supervised Generative Adversarial Nets

Abstract

Rare diseases affect 350 million patients worldwide, but they are commonly delayed in diagnosis or misdiagnosed. The problem of detecting rare disease faces two main challenges: the first being extreme imbalance of data and the second being finding the appropriate features. In this paper, we propose to address the problems by using semi-supervised generative adversarial networks (GANs) to deal with the data imbalance issue and recurrent neural networks (RNNs) to directly model patient sequences. We experimented with detecting patients with a particular rare disease (exocrine pancreatic insufficiency, EPI). The dataset includes 1.8 million patients with 29,149 patients being positive, from a large longitudinal study using 7 years medical claims. Our model achieved 0.56 PR-AUC and outperformed benchmark models in terms of precision and recall.