title: Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.
abstract: This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.
authors.affiliation: Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
authors.forename: L V
authors.initials: LV
authors.lastname: Kalman
authors.affiliation: Department of Pharmacology, University of Extremadura, Cáceres, Spain.
authors.forename: Jag
authors.initials: J
authors.lastname: Agúndez
authors.affiliation: Division of Drug Research, Department of Medical and Health Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping, Sweden.
authors.forename: M Lindqvist
authors.initials: ML
authors.lastname: Appell
authors.affiliation: Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: J L
authors.initials: JL
authors.lastname: Black
authors.affiliation: Moffitt Cancer Center, Tampa, Florida, USA.
authors.forename: G C
authors.initials: GC
authors.lastname: Bell
authors.affiliation: Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece.
authors.forename: S
authors.initials: S
authors.lastname: Boukouvala
authors.affiliation: Affymetrix, Santa Clara, California, USA.
authors.forename: C
authors.initials: C
authors.lastname: Bruckner
authors.affiliation: HUGO Gene Nomenclature Committee (HGNC), EMBL-EBI, European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, UK.
authors.forename: E
authors.initials: E
authors.lastname: Bruford
authors.affiliation: St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
authors.forename: K
authors.initials: K
authors.lastname: Caudle
authors.affiliation: Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: S A
authors.initials: SA
authors.lastname: Coulthard
authors.affiliation: Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: A K
authors.initials: AK
authors.lastname: Daly
authors.affiliation: Millennium Health, LLC, San Diego, California, USA.
authors.forename: Al
authors.initials: A
authors.lastname: Del Tredici
authors.affiliation: Department of Human Genetics and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: J T
authors.initials: JT
authors.lastname: den Dunnen
authors.affiliation: US Food and Drug Administration, Silver Spring, Maryland, USA.
authors.forename: K
authors.initials: K
authors.lastname: Drozda
authors.affiliation: Agena Bioscience, San Diego, California, USA.
authors.forename: R E
authors.initials: RE
authors.lastname: Everts
authors.affiliation: Indiana University School of Medicine, Indianapolis, Indiana, USA.
authors.forename: D
authors.initials: D
authors.lastname: Flockhart
authors.affiliation: Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: R R
authors.initials: RR
authors.lastname: Freimuth
authors.affiliation: Division of Clinical Pharmacology and Therapeutic Innovation, Children's Mercy Kansas City and School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.
authors.forename: A
authors.initials: A
authors.lastname: Gaedigk
authors.affiliation: Translational Software, Bellevue, Washington, USA.
authors.forename: H
authors.initials: H
authors.lastname: Hachad
authors.affiliation: Department of Genetic Analysis, Thermo Fisher Scientific, South San Francisco, California, USA.
authors.forename: T
authors.initials: T
authors.lastname: Hartshorne
authors.affiliation: Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Ingelman-Sundberg
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, USA.
authors.forename: T E
authors.initials: TE
authors.lastname: Klein
authors.affiliation: Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
authors.forename: V M
authors.initials: VM
authors.lastname: Lauschke
authors.affiliation: National Institutes of Health / National Library of Medicine / National Center for Biotechnology Information, Bethesda, Maryland, USA.
authors.forename: D R
authors.initials: DR
authors.lastname: Maglott
authors.affiliation: Moffitt Cancer Center, Tampa, Florida, USA.
authors.forename: H L
authors.initials: HL
authors.lastname: McLeod
authors.affiliation: University of Utah and ARUP Laboratories, Salt Lake City, Utah, USA.
authors.forename: G A
authors.initials: GA
authors.lastname: McMillin
authors.affiliation: University of Basel, Basel, Switzerland.
authors.forename: U A
authors.initials: UA
authors.lastname: Meyer
authors.affiliation: Department of Psychiatry, University of Toronto, CAMH, Toronto, Ontario, Canada.
authors.forename: D J
authors.initials: DJ
authors.lastname: Müller
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors.forename: D A
authors.initials: DA
authors.lastname: Nickerson
authors.affiliation: Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota, USA.
authors.forename: W S
authors.initials: WS
authors.lastname: Oetting
authors.affiliation: US Food and Drug Administration, Silver Spring, Maryland, USA.
authors.forename: M
authors.initials: M
authors.lastname: Pacanowski
authors.affiliation: Indiana University School of Medicine, Indianapolis, Indiana, USA.
authors.forename: V M
authors.initials: VM
authors.lastname: Pratt
authors.affiliation: St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
authors.forename: M V
authors.initials: MV
authors.lastname: Relling
authors.affiliation: Aegis Science Corporation, Nashville, Tennessee, USA.
authors.forename: A
authors.initials: A
authors.lastname: Roberts
authors.affiliation: National Institutes of Health / National Library of Medicine / National Center for Biotechnology Information, Bethesda, Maryland, USA.
authors.forename: W S
authors.initials: WS
authors.lastname: Rubinstein
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, USA.
authors.forename: K
authors.initials: K
authors.lastname: Sangkuhl
authors.affiliation: Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart and Department of Clinical Pharmacology, University Hospital, Tuebingen, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Schwab
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
authors.forename: S A
authors.initials: SA
authors.lastname: Scott
authors.affiliation: Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
authors.forename: S C
authors.initials: SC
authors.lastname: Sim
authors.affiliation: Genelex Corporation, Seattle, Washington, USA.
authors.forename: R K
authors.initials: RK
authors.lastname: Thirumaran
authors.affiliation: Coriell Institute for Medical Research, Camden, New Jersey, USA.
authors.forename: L H
authors.initials: LH
authors.lastname: Toji
authors.affiliation: CAMH and the Departments of Psychiatry and Pharmacology & Toxicology, University of Toronto, Toronto, Ontario, Canada.
authors.forename: R F
authors.initials: RF
authors.lastname: Tyndale
authors.affiliation: Department of Clinical Chemistry, Erasmus MC Rotterdam, International Federation for Clinical Chemistry (IFCC) Task Force Pharmacogenetics, Rotterdam, The Netherlands.
authors.forename: Rhn
authors.initials: R
authors.lastname: van Schaik
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, USA.
authors.forename: M
authors.initials: M
authors.lastname: Whirl-Carrillo
authors.affiliation: Department of Pathology, The University of Chicago, Chicago, Illinois, USA.
authors.forename: Ktj
authors.initials: K
authors.lastname: Yeo
authors.affiliation: Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart and Department of Clinical Pharmacology, University Hospital, Tuebingen, Germany.
authors.forename: U M
authors.initials: UM
authors.lastname: Zanger
mesh_terms: D000483:Alleles; D005796:Genes; D005820:Genetic Testing / Q000592:standards* / Q000639:trends; D014644:Genetic Variation; D006801:Humans; D010597:Pharmacogenetics / Q000592:standards* / Q000639:trends; D057285:Precision Medicine; D009626:Terminology as Topic