title: Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies.
abstract: Electronic medical records (EMRs) are being widely implemented for use in genetic and genomic studies. As a phenotypic rich resource, EMRs provide researchers with the opportunity to identify disease cohorts and perform genotype-phenotype association studies. The Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study, as part of the Population Architecture using Genomics and Epidemiology (PAGE) I study, has genotyped more than 15,000 individuals of diverse genetic ancestry in BioVU, the Vanderbilt University Medical Center's biorepository linked to a de-identified version of the EMR (EAGLE BioVU). Here we develop and deploy an algorithm utilizing data mining techniques to identify primary open-angle glaucoma (POAG) in African Americans from EAGLE BioVU for genetic association studies. The algorithm described here was designed using a combination of diagnostic codes, current procedural terminology billing codes, and free text searches to identify POAG status in situations where gold-standard digital photography cannot be accessed. The case algorithm identified 267 potential POAG subjects but underperformed after manual review with a positive predictive value of 51.6% and an accuracy of 76.3%. The control algorithm identified controls with a negative predictive value of 98.3%. Although the case algorithm requires more downstream manual review for use in large-scale studies, it provides a basis by which to extract a specific clinical subtype of glaucoma from EMRs in the absence of digital photographs.
authors.affiliation: Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States of America.
authors.forename: Nicole A
authors.initials: NA
authors.lastname: Restrepo
authors.affiliation: Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States of America.
authors.forename: Eric
authors.initials: E
authors.lastname: Farber-Eger
authors.affiliation: Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States of America.
authors.forename: Robert
authors.initials: R
authors.lastname: Goodloe
authors.affiliation: Department of Epidemiology & Biostatistics, Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio, United States of America.
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Haines
authors.affiliation: Department of Epidemiology & Biostatistics, Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio, United States of America.
authors.forename: Dana C
authors.initials: DC
authors.lastname: Crawford
mesh_terms: D000328:Adult; D001741:Black or African American; D000368:Aged; D000465:Algorithms; D057225:Data Mining / Q000379:methods*; D057286:Electronic Health Records; D005260:Female; D056726:Genetic Association Studies; D005902:Glaucoma, Open-Angle; D006801:Humans; D008297:Male; D008875:Middle Aged; D055815:Young Adult