» Articles » PMID: 26479518

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting

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.

Citing Articles

Genetic Variants and Major Depressive Disorder: A Systematic Review.

Bonasser L, de Souza Silva C, Fratelli C, Gontijo B, Seixas J, de Sa Barreto L Pharmaceuticals (Basel). 2024; 17(11).

PMID: 39598373 PMC: 11597809. DOI: 10.3390/ph17111461.


Genetic ancestry in population pharmacogenomics unravels distinct geographical patterns related to drug toxicity.

Karamperis K, Katz S, Melograna F, Ganau F, Van Steen K, Patrinos G iScience. 2024; 27(10):110916.

PMID: 39391720 PMC: 11465127. DOI: 10.1016/j.isci.2024.110916.


Patterns of pharmacogenetic variation in nine biogeographic groups.

Hernandez S, Hindorff L, Morales J, Ramos E, Manolio T Clin Transl Sci. 2024; 17(9):e70017.

PMID: 39206687 PMC: 11358764. DOI: 10.1111/cts.70017.


Metabolic activity of CYP2C19 and CYP2D6 on antidepressant response from 13 clinical studies using genotype imputation: a meta-analysis.

Li D, Pain O, Fabbri C, Wong W, Lo C, Ripke S Transl Psychiatry. 2024; 14(1):296.

PMID: 39025838 PMC: 11258238. DOI: 10.1038/s41398-024-02981-1.


A comprehensive Thai pharmacogenomics database (TPGxD-1): Phenotype prediction and variants identification in 942 whole-genome sequencing data.

John S, Klumsathian S, Own-Eium P, Eu-Ahsunthornwattana J, Sura T, Dejsuphong D Clin Transl Sci. 2024; 17(6):e13830.

PMID: 38853370 PMC: 11163017. DOI: 10.1111/cts.13830.


References
1.
Malentacchi F, Mancini I, Brandslund I, Vermeersch P, Schwab M, Marc J . Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe. Clin Chem Lab Med. 2015; 53(7):981-8. DOI: 10.1515/cclm-2015-0171. View

2.
Swen J, Huizinga T, Gelderblom H, de Vries E, Assendelft W, Kirchheiner J . Translating pharmacogenomics: challenges on the road to the clinic. PLoS Med. 2007; 4(8):e209. PMC: 1945038. DOI: 10.1371/journal.pmed.0040209. View

3.
Huang S, Temple R . Is this the drug or dose for you? Impact and consideration of ethnic factors in global drug development, regulatory review, and clinical practice. Clin Pharmacol Ther. 2008; 84(3):287-94. DOI: 10.1038/clpt.2008.144. View

4.
Robert J, Le Morvan V, Giovannetti E, Peters G . On the use of pharmacogenetics in cancer treatment and clinical trials. Eur J Cancer. 2014; 50(15):2532-43. DOI: 10.1016/j.ejca.2014.07.013. View

5.
Geisen C, Watzka M, Sittinger K, Steffens M, Daugela L, Seifried E . VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation. Thromb Haemost. 2005; 94(4):773-9. DOI: 10.1160/TH05-04-0290. View