Medical data is highly contextual and heavily multi-modal, in which each data silo is treated separately. To bridge different data, a knowledge graph-based approach integrates data across domains and helps represent the complex representation of scientific knowledge more naturally. For example, three components of major electronic health records (EHR) are diagnosis codes, primary notes, and specific medications. Because these are represented in different data silos, secondary use of these documents for accurately identifying patients with a specific observable trait is a crucial challenge. By connecting those different sources, subject matter experts have a richer pool of data to understand how different concepts such as diseases and symptoms interact with one another and help conduct their research.

A new MIT study finds "health knowledge graphs," which show relationships between symptoms and diseases and are intended to help with clinical diagnosis, can fall short for certain conditions and patient populations. The results also suggest ways to boost their performance. Health knowledge graphs have typically been compiled manually by expert clinicians, but that can be a laborious process. Recently, researchers have experimented with automatically generating these knowledge graphs from patient data. The MIT team has been studying how well such graphs hold up across different diseases and patient populations.

Increasingly large electronic health records (EHRs) provide an opportunity to algorithmically learn medical knowledge. In one prominent example, a causal health knowledge graph could learn relationships between diseases and symptoms and then serve as a diagnostic tool to be refined with additional clinical input. Prior research has demonstrated the ability to construct such a graph from over 270,000 emergency department patient visits. In this work, we describe methods to evaluate a health knowledge graph for robustness. Moving beyond precision and recall, we analyze for which diseases and for which patients the graph is most accurate. We identify sample size and unmeasured confounders as major sources of error in the health knowledge graph. We introduce a method to leverage non-linear functions in building the causal graph to better understand existing model assumptions. Finally, to assess model generalizability, we extend to a larger set of complete patient visits within a hospital system. We conclude with a discussion on how to robustly extract medical knowledge from EHRs.