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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

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

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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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