title: Electronic medical records for genetic research: results of the eMERGE consortium.
abstract: Clinical data in electronic medical records (EMRs) are a potential source of longitudinal clinical data for research. The Electronic Medical Records and Genomics Network (eMERGE) investigates whether data captured through routine clinical care using EMRs can identify disease phenotypes with sufficient positive and negative predictive values for use in genome-wide association studies (GWAS). Using data from five different sets of EMRs, we have identified five disease phenotypes with positive predictive values of 73 to 98% and negative predictive values of 98 to 100%. Most EMRs captured key information (diagnoses, medications, laboratory tests) used to define phenotypes in a structured format. We identified natural language processing as an important tool to improve case identification rates. Efforts and incentives to increase the implementation of interoperable EMRs will markedly improve the availability of clinical data for genomics research.
authors.affiliation: Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. a-kho@northwestern.edu
authors.forename: Abel N
authors.initials: AN
authors.lastname: Kho
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Pacheco
authors.forename: Peggy L
authors.initials: PL
authors.lastname: Peissig
authors.forename: Luke
authors.initials: L
authors.lastname: Rasmussen
authors.forename: Katherine M
authors.initials: KM
authors.lastname: Newton
authors.forename: Noah
authors.initials: N
authors.lastname: Weston
authors.forename: Paul K
authors.initials: PK
authors.lastname: Crane
authors.forename: Jyotishman
authors.initials: J
authors.lastname: Pathak
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Chute
authors.forename: Suzette J
authors.initials: SJ
authors.lastname: Bielinski
authors.forename: Iftikhar J
authors.initials: IJ
authors.lastname: Kullo
authors.forename: Rongling
authors.initials: R
authors.lastname: Li
authors.forename: Teri A
authors.initials: TA
authors.lastname: Manolio
authors.forename: Rex L
authors.initials: RL
authors.lastname: Chisholm
authors.forename: Joshua C
authors.initials: JC
authors.lastname: Denny
mesh_terms: D002986:Clinical Trials as Topic; D003625:Data Collection / Q000379:methods; D057286:Electronic Health Records; D036281:Genetic Research; D055106:Genome-Wide Association Study; D023281:Genomics; D006801:Humans; D010641:Phenotype