Document Type

Article

Publication Date

2-1-2016

Identifier

PMCID: PMC4724253 DOI: 10.1002/cpt.280

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.

Journal Title

Clinical pharmacology and therapeutics

Volume

99

Issue

2

First Page

172

Last Page

185

MeSH Keywords

Alleles; Genes; Genetic Testing; Genetic Variation; Humans; Pharmacogenetics; Precision Medicine; Terminology as Topic

Keywords

Naming Systems

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