Title
A review of approaches to identifying patient phenotype cohorts using electronic health records.
Abstract
Objective To summarize literature describing approaches aimed at automatically identifying patients with a common phenotype. Materials and methods We performed a review of studies describing systems or reporting techniques developed for identifying cohorts of patients with specific phenotypes. Every full text article published in (1) Journal of American Medical Informatics Association, (2) Journal of Biomedical Informatics, (3) Proceedings of the Annual American Medical Informatics Association Symposium, and (4) Proceedings of Clinical Research Informatics Conference within the past 3years was assessed for inclusion in the review. Only articles using automated techniques were included. Results Ninety-seven articles met our inclusion criteria. Forty-six used natural language processing (NLP)-based techniques, 24 described rule-based systems, 41 used statistical analyses, data mining, or machine learning techniques, while 22 described hybrid systems. Nine articles described the architecture of large-scale systems developed for determining cohort eligibility of patients. Discussion We observe that there is a rise in the number of studies associated with cohort identification using electronic medical records. Statistical analyses or machine learning, followed by NLP techniques, are gaining popularity over the years in comparison with rule-based systems. Conclusions There are a variety of approaches for classifying patients into a particular phenotype. Different techniques and data sources are used, and good performance is reported on datasets at respective institutions. However, no system makes comprehensive use of electronic medical records addressing all of their known weaknesses.
Year
DOI
Venue
2014
10.1136/amiajnl-2013-001935
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
Keywords
Field
DocType
Review,Electronic Health Records,Cohort Identification,Phenotyping
Data science,Informatics,Data mining,Computer science,Medical record,Health informatics,Cohort
Journal
Volume
Issue
ISSN
21
2
1067-5027
Citations 
PageRank 
References 
70
3.66
77
Authors
7
Name
Order
Citations
PageRank
Chaitanya P Shivade1825.89
Preethi Raghavan21119.76
Eric Fosler-Lussier369066.40
Peter J Embi421530.87
Noemie Elhadad5113169.59
Stephen B. Johnson639047.84
Albert M. Lai723828.46