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Medical researchers are coming to appreciate that many diseases are in fact complex, heterogeneous syndromes composed of subpopulations that express different variants of a related complication. Longitudinal data extracted from individual electronic health records (EHR) offer an exciting new way to study subtle differences in the way these diseases progress over time. In this paper, we focus on answering two questions that can be asked using these databases of longitudinal EHR data. First, we want to understand whether there are individuals with similar disease trajectories and whether there are a small number of degrees of freedom that account for differences in trajectories across the population. Second, we want to understand how important clinical outcomes are associated with disease trajectories. To answer these questions, we propose the Disease Trajectory Map (DTM), a novel probabilistic model that learns low-dimensional representations of sparse and irregularly sampled longitudinal data. We propose a stochastic variational inference algorithm for learning the DTM that allows the model to scale to large modern medical datasets. To demonstrate the DTM, we analyze data collected on patients with the complex autoimmune disease, scleroderma. We find that DTM learns meaningful representations of disease trajectories and that the representations are significantly associated with important clinical outcomes.
Author Information
Peter Schulam (Johns Hopkins University)
Peter Schulam is a PhD student in computer science at Johns Hopkins University. His research interests include machine learning and its applications to healthcare. Peter has made methodological contributions to advancing the use of electronic health data for individualizing care in chronic diseases. His current work explores applications in autoimmune diseases. He has won the National Science Foundation (NSF) Graduate Research Fellowship and the Whiting School of Engineering Centennial Fellowship. He is working with Prof. Suchi Saria for his PhD. Prior to that, he received his master’s from Carnegie Mellon University and his bachelor’s from Princeton University.
Raman Arora (Johns Hopkins University)
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