Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting

L. V. Kalman, J. A.G. Agúndez, M. Lindqvist Appell, J. L. Black, G. C. Bell, S. Boukouvala, C. Bruckner, E. Bruford, K. Caudle, S. A. Coulthard, A. K. Daly, A. L. Del Tredici, J. T. Den Dunnen, K. Drozda, R. E. Everts, D. Flockhart, R. R. Freimuth, A. Gaedigk, H. Hachad, T. HartshorneM. Ingelman-Sundberg, T. E. Klein, V. M. Lauschke, D. R. Maglott, H. L. McLeod, G. A. McMillin, U. A. Meyer, D. J. Müller, D. A. Nickerson, W. S. Oetting, M. Pacanowski, V. M. Pratt, M. V. Relling, A. Roberts, W. S. Rubinstein, K. Sangkuhl, M. Schwab, S. A. Scott, S. C. Sim, R. K. Thirumaran, L. H. Toji, R. F. Tyndale, R. H.N. Van Schaik, M. Whirl-Carrillo, K. T.J. Yeo, U. M. Zanger

Research output: Contribution to journalArticlepeer-review

74 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)172-185
Number of pages14
JournalClinical pharmacology and therapeutics
Volume99
Issue number2
DOIs
StatePublished - Feb 1 2016

ASJC Scopus subject areas

  • Pharmacology
  • Pharmacology (medical)

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