Developing electronic health record algorithms that accurately identify patients with juvenile idiopathic arthritis

Abstract

Background: The objective of this study was to develop an algorithm that accurately identifies juvenile idiopathic arthritis (JIA) patients in the electronic health record (EHR).

Methods: Algorithms were developed in a de-identified EHR by searching for a priori JIA ICD-9 (International Classification of Diseases, Ninth Revision) and ICD-10-CM (International Classification of Diseases, Tenth Revision, Clinical Modification) codes and JIA-related keywords. Exclusion criteria were selected to remove other autoimmune diseases. A training set of 200 patients was randomly selected from patients containing ≥1 occurrence of a JIA ICD-9 or ICD-10-CM code. Case status was determined by a rheumatology clinic note documenting a JIA diagnosis before age 20. For each algorithm, positive predictive value (PPV), sensitivity, and F-measure were determined using the training set.

Results: We developed 103 algorithms using combinations of ICD codes, keywords, and exclusion criteria. The algorithm requiring 4 or more counts of JIA ICD-9 or ICD-10-CM codes, keywords "enthesitis" and "uveitis", and exclusion of ICD-9 or ICD-10-CM codes for systemic lupus erythematosus, dermatomyositis, polymyositis, and dermatopolymyositis had the highest PPV of 97% in the training set with an F-measure of 87%. There were 1,131 JIA cases returned by this algorithm. We validated the highest performing algorithm in a separate cohort from the training set with a PPV of 92% and an F-measure of 75%.

Conclusion: We developed and validated JIA EHR algorithms with ICD-9 and ICD-10-CM codes to accurately identify a JIA cohort. Three algorithms achieved PPVs of 97%, each with different algorithm criteria, allowing for users to select an algorithm to best fit their research needs.

Keywords: Algorithms; Bioinformatics; Electronic health records; Juvenile idiopathic arthritis.