Literature DB >> 26479518

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.

L V Kalman1, Jag Agúndez2, M Lindqvist Appell3, J L Black4, G C Bell5, S Boukouvala6, C Bruckner7, E Bruford8, K Caudle9, S A Coulthard10, A K Daly10, Al Del Tredici11, J T den Dunnen12, K Drozda13, R E Everts14, D Flockhart15, R R Freimuth4, A Gaedigk16, H Hachad17, T Hartshorne18, M Ingelman-Sundberg19, T E Klein20, V M Lauschke19, D R Maglott21, H L McLeod5, G A McMillin22, U A Meyer23, D J Müller24, D A Nickerson25, W S Oetting26, M Pacanowski13, V M Pratt15, M V Relling9, A Roberts27, W S Rubinstein21, K Sangkuhl20, M Schwab28, S A Scott29, S C Sim19, R K Thirumaran30, L H Toji31, R F Tyndale32, Rhn van Schaik33, M Whirl-Carrillo20, Ktj Yeo34, U M Zanger28.   

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. Published 2015. This article is a U.S. Government work and is in the public domain in the USA.

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Year:  2015        PMID: 26479518      PMCID: PMC4724253          DOI: 10.1002/cpt.280

Source DB:  PubMed          Journal:  Clin Pharmacol Ther        ISSN: 0009-9236            Impact factor:   6.875


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