Automated disease cohort selection using word embeddings from Electronic Health Records

• Published in: Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing Vol. 23; p. 145
• Main Authors: Glicksberg, Benjamin S, Miotto, Riccardo, Johnson, Kipp W, Shameer, Khader, Li, Li, Chen, Rong, Dudley, Joel T
• Format: Journal Article
• Language: English
• Published: United States 2018
• Subjects: Algorithms; Cohort Studies; Computational Biology - methods; Disease; Electronic Health Records - statistics & numerical data; Expert Systems; Humans; Machine Learning; Phenotype
• ISSN: 2335-6936
• DOI: 10.1142/9789813235533_0014

Accurate and robust cohort definition is critical to biomedical discovery using Electronic Health Records (EHR). Similar to prospective study designs, high quality EHR-based research requires rigorous selection criteria to designate case/control status particular to each disease. Electronic phenotyping algorithms, which are manually built and validated per disease, have been successful in filling this need. However, these approaches are time-consuming, leading to only a relatively small amount of algorithms for diseases developed. Methodologies that automatically learn features from EHRs have been used for cohort selection as well. To date, however, there has been no systematic analysis of how these methods perform against current gold standards. Accordingly, this paper compares the performance of a state-of-the-art automated feature learning method to extracting research-grade cohorts for five diseases against their established electronic phenotyping algorithms. In particular, we use word2vec to create unsupervised embeddings of the phenotype space within an EHR system. Using medical concepts as a query, we then rank patients by their proximity in the embedding space and automatically extract putative disease cohorts via a distance threshold. Experimental evaluation shows promising results with average F-score of 0.57 and AUC-ROC of 0.98. However, we noticed that results varied considerably between diseases, thus necessitating further investigation and/or phenotype-specific refinement of the approach before being readily deployed across all diseases.