Kalman L V, Agúndez Jag, Appell M Lindqvist, Black J L, Bell G C, Boukouvala S, Bruckner C, Bruford E, Caudle K, Coulthard S A, Daly A K, Del Tredici Al, den Dunnen J T, Drozda K, Everts R E, Flockhart D, Freimuth R R, Gaedigk A, Hachad H, Hartshorne T, Ingelman-Sundberg M, Klein T E, Lauschke V M, Maglott D R, McLeod H L, McMillin G A, Meyer U A, Müller D J, Nickerson D A, Oetting W S, Pacanowski M, Pratt V M, Relling M V, Roberts A, Rubinstein W S, Sangkuhl K, Schwab M, Scott S A, Sim S C, Thirumaran R K, Toji L H, Tyndale R F, van Schaik Rhn, Whirl-Carrillo M, Yeo Ktj, Zanger U M
Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Department of Pharmacology, University of Extremadura, Cáceres, Spain.
Clin Pharmacol Ther. 2016 Feb;99(2):172-85. doi: 10.1002/cpt.280. Epub 2015 Nov 20.
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.
本文提供了一个国际工作组制定的命名法建议,以提高药物遗传学(PGx)结果报告的透明度和标准化。目前,PGx检测所识别的序列变异是使用不同的命名系统来描述的。此外,PGx分析可能会检测到每个基因的不同变异集,这可能会影响结果的解释。这种做法已经造成了混乱,从而可能阻碍临床PGx检测的采用。标准化对于推动PGx发展至关重要。