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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

Lookup NU author(s): Dr Sally Coulthard, Professor Ann DalyORCiD

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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.


Publication metadata

Author(s): Kalman LV, Agundez JAG, Appell ML, Black JL, Bell GC, Boukouvala S, Bruckner C, Bruford E, Caudle K, Coulthard SA, Daly AK, Del Tredici AL, den Dunnen JT, Drozda K, Everts RE, Flockhart D, Freimuth RR, Gaedigk A, Hachad H, Hartshorne T, Ingelman-Sundberg M, Klein TE, Lauschke VM, Maglott DR, McLeod HL, McMillin GA, Meyer UA, Muller DJ, Nickerson DA, Oetting WS, Pacanowski M, Pratt VM, Relling MV, Roberts A, Rubinstein WS, Sangkuhl K, Schwab M, Scott SA, Sim SC, Thirumaran RK, Toji LH, Tyndale RF, van Schaik RHN, Whirl-Carrillo M, Yeo KTJ, Zanger UM

Publication type: Article

Publication status: Published

Journal: Clinical Pharmacology & Therapeutics

Year: 2016

Volume: 99

Issue: 2

Pages: 172-185

Print publication date: 01/02/2016

Online publication date: 20/11/2015

Acceptance date: 14/10/2015

ISSN (print): 0009-9236

ISSN (electronic): 1532-6535

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/cpt.280

DOI: 10.1002/cpt.280


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Funding

Funder referenceFunder name
099129/Z/12/ZWellcome Trust
2 R01 GM088076-05NIGMS NIH HHS
CC999999Intramural CDC HHS
K23 GM104401NIGMS NIH HHS
P30 CA021765NCI NIH HHS
R01 DA035736NIDA NIH HHS
R01 GM088076NIGMS NIH HHS
R24GM115264NIGMS NIH HHS
U01 HG007762NHGRI NIH HHS
U01HG007762NHGRI NIH HHS
U41 HG003345NHGRI NIH HHS
U41HG003345NHGRI NIH HHS
R24 GM061374NIGMS NIH HHS
R24 GM115264NIGMS NIH HHS
R24 GM61374NIGMS NIH HHS
U19 GM061388NIGMS NIH HHS
U19 GM61388NIGMS NIH HHS

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