title: Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
abstract: Reporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of clinical pharmacogenetics, but allele function and phenotype terms are not standardized. Our goal was to develop terms that can be broadly applied to characterize pharmacogenetic allele function and inferred phenotypes.
  
  
  
  Terms currently used by genetic testing laboratories and in the literature were identified. The Clinical Pharmacogenetics Implementation Consortium (CPIC) used the Delphi method to obtain a consensus and agree on uniform terms among pharmacogenetic experts.
  
  
  
  Experts with diverse involvement in at least one area of pharmacogenetics (clinicians, researchers, genetic testing laboratorians, pharmacogenetics implementers, and clinical informaticians; n = 58) participated. After completion of five surveys, a consensus (>70%) was reached with 90% of experts agreeing to the final sets of pharmacogenetic terms.
  
  
  
  The proposed standardized pharmacogenetic terms will improve the understanding and interpretation of pharmacogenetic tests and reduce confusion by maintaining consistent nomenclature. These standard terms can also facilitate pharmacogenetic data sharing across diverse electronic health care record systems with clinical decision support.Genet Med 19 2, 215-223.
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
authors.forename: Kelly E
authors.identifier: 0000-0002-5663-3793
authors.initials: KE
authors.lastname: Caudle
authors.affiliation: Center for Molecular Medicine, NorthShore University HealthSystem, Evanston, Illinois, USA.
authors.forename: Henry M
authors.identifier: 0000-0002-6211-1713
authors.initials: HM
authors.lastname: Dunnenberger
authors.affiliation: Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Robert R
authors.initials: RR
authors.lastname: Freimuth
authors.affiliation: Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.|Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
authors.forename: Josh F
authors.initials: JF
authors.lastname: Peterson
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Burlison
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, USA.
authors.forename: Michelle
authors.initials: M
authors.lastname: Whirl-Carrillo
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
authors.forename: Stuart A
authors.identifier: 0000-0001-5720-1864
authors.initials: SA
authors.lastname: Scott
authors.affiliation: Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA; The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
authors.forename: Heidi L
authors.identifier: 0000-0002-6025-0015
authors.initials: HL
authors.lastname: Rehm
authors.affiliation: Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
authors.forename: Marc S
authors.initials: MS
authors.lastname: Williams
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, USA.
authors.forename: Teri E
authors.identifier: 0000-0001-5527-6475
authors.initials: TE
authors.lastname: Klein
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
authors.forename: Mary V
authors.initials: MV
authors.lastname: Relling
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
authors.forename: James M
authors.initials: JM
authors.lastname: Hoffman
mesh_terms: D000483:Alleles; D057286:Electronic Health Records / Q000592:standards; D005820:Genetic Testing / Q000592:standards*; D006801:Humans; D010597:Pharmacogenetics / Q000592:standards*; D010641:Phenotype; D011795:Surveys and Questionnaires; D009626:Terminology as Topic