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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

Authors :
Mary V. Relling
Victoria M. Pratt
Michael Pacanowski
Urs A. Meyer
Deborah A. Nickerson
Ranjit K. Thirumaran
C Bruckner
Rhn van Schaik
Teri E. Klein
Kelly E. Caudle
Matthias Schwab
Elspeth A. Bruford
Toinette Hartshorne
Rachel F. Tyndale
Wendy S. Rubinstein
AL Del Tredici
Sotiria Boukouvala
Robert R. Freimuth
M Lindqvist Appell
Gillian C. Bell
A Roberts
Howard L. McLeod
Katrin Sangkuhl
Maglott
Volker M. Lauschke
Lisa V. Kalman
Ulrich M. Zanger
Robin E. Everts
Ktj Yeo
JT den Dunnen
Daniel J. Müller
Gwendolyn A. McMillin
David A. Flockhart
H Hachad
Michelle Whirl-Carrillo
Jag Agúndez
A. Gaedigk
Lorraine Toji
Sarah C. Sim
Stuart A. Scott
Katarzyna Drozda
Ann K. Daly
John L. Black
Magnus Ingelman-Sundberg
Sally A. Coulthard
William S. Oetting
Clinical Chemistry
Source :
Clinical Pharmacology and Therapeutics, 99(2), 172-185, Clinical Pharmacology & Therapeutics, 99(2), 172-185. Wiley-Blackwell
Publication Year :
2016

Abstract

This manuscript 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.

Details

Language :
English
ISSN :
00099236
Database :
OpenAIRE
Journal :
Clinical Pharmacology and Therapeutics, 99(2), 172-185, Clinical Pharmacology & Therapeutics, 99(2), 172-185. Wiley-Blackwell
Accession number :
edsair.doi.dedup.....9bfbf51cd9532fd1cbe69fa7e487ef33