药物遗传学等位基因命名法：检测结果报告的国际工作组建议
Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.
作者信息
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
机构信息
Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Department of Pharmacology, University of Extremadura, Cáceres, Spain.
出版信息
Clin Pharmacol Ther. 2016 Feb;99(2):172-85. doi: 10.1002/cpt.280. Epub 2015 Nov 20.
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.
摘要
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。
相似文献
1
Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.
Clin Pharmacol Ther. 2016 Feb;99(2):172-85. doi: 10.1002/cpt.280. Epub 2015 Nov 20.
2
Standardization can accelerate the adoption of pharmacogenomics: current status and the path forward.
Pharmacogenomics. 2018 Jul 1;19(10):847-860. doi: 10.2217/pgs-2018-0028. Epub 2018 Jun 19.
3
Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
Genet Med. 2017 Feb;19(2):215-223. doi: 10.1038/gim.2016.87. Epub 2016 Jul 21.
4
On the readiness of physicians for pharmacogenomics testing: an empirical assessment.
Pharmacogenomics J. 2018 Apr;18(2):308-318. doi: 10.1038/tpj.2017.22. Epub 2017 Jun 13.
5
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing: The Genetic Testing Reference Material (GeT-RM) Program PGx Search Tool and GeT-RM Consolidated PGx and HLA Table.
J Mol Diagn. 2025 Jun;27(6):457-464. doi: 10.1016/j.jmoldx.2025.02.008. Epub 2025 Mar 21.
6
DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium.
J Mol Diagn. 2024 Oct;26(10):851-863. doi: 10.1016/j.jmoldx.2024.05.015. Epub 2024 Jul 18.
7
Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy.
J Mol Diagn. 2021 Sep;23(9):1047-1064. doi: 10.1016/j.jmoldx.2021.05.013. Epub 2021 Jun 10.
8
Recommendations for Clinical Warfarin Genotyping Allele Selection: A Report of the Association for Molecular Pathology and the College of American Pathologists.
J Mol Diagn. 2020 Jul;22(7):847-859. doi: 10.1016/j.jmoldx.2020.04.204. Epub 2020 May 4.
9
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Int J Mol Sci. 2020 Mar 26;21(7):2308. doi: 10.3390/ijms21072308.
10
Development of the PGx-Passport: A Panel of Actionable Germline Genetic Variants for Pre-Emptive Pharmacogenetic Testing.
Clin Pharmacol Ther. 2019 Oct;106(4):866-873. doi: 10.1002/cpt.1489. Epub 2019 Jun 12.
引用本文的文献
1
The impact of , , and polymorphisms on warfarin dose requirement in Saudi patients.
Front Pharmacol. 2025 Apr 30;16:1547142. doi: 10.3389/fphar.2025.1547142. eCollection 2025.
2
Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities.
Ann Lab Med. 2025 May 1;45(3):247-258. doi: 10.3343/alm.2024.0652. Epub 2025 Apr 2.
3
Genetic ancestry in population pharmacogenomics unravels distinct geographical patterns related to drug toxicity.
iScience. 2024 Sep 10;27(10):110916. doi: 10.1016/j.isci.2024.110916. eCollection 2024 Oct 18.
4
Patterns of pharmacogenetic variation in nine biogeographic groups.
Clin Transl Sci. 2024 Sep;17(9):e70017. doi: 10.1111/cts.70017.
5
Metabolic activity of CYP2C19 and CYP2D6 on antidepressant response from 13 clinical studies using genotype imputation: a meta-analysis.
Transl Psychiatry. 2024 Jul 19;14(1):296. doi: 10.1038/s41398-024-02981-1.
6
A comprehensive Thai pharmacogenomics database (TPGxD-1): Phenotype prediction and variants identification in 942 whole-genome sequencing data.
Clin Transl Sci. 2024 Jun;17(6):e13830. doi: 10.1111/cts.13830.
7
Personalized anesthesia and precision medicine: a comprehensive review of genetic factors, artificial intelligence, and patient-specific factors.
Front Med (Lausanne). 2024 May 9;11:1365524. doi: 10.3389/fmed.2024.1365524. eCollection 2024.
8
Maturing pharmacogenomic factors deliver improvements and cost efficiencies.
Camb Prism Precis Med. 2022 Oct 6;1:e3. doi: 10.1017/pcm.2022.3. eCollection 2023.
9
ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole-genome sequencing data.
Front Bioinform. 2024 Mar 12;4:1351620. doi: 10.3389/fbinf.2024.1351620. eCollection 2024.
10
Meta-analysis of CYP2C19 and CYP2D6 metabolic activity on antidepressant response from 13 clinical studies using genotype imputation.
medRxiv. 2023 Dec 11:2023.06.26.23291890. doi: 10.1101/2023.06.26.23291890.
本文引用的文献
1
Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.
J Mol Diagn. 2016 Jan;18(1):109-23. doi: 10.1016/j.jmoldx.2015.08.005. Epub 2015 Nov 24.
2
Pharmacogenomic and pharmacogenetic-guided therapy as a tool in precision medicine: current state and factors impacting acceptance by stakeholders.
Genet Res (Camb). 2015 Jun 1;97:e13. doi: 10.1017/S0016672315000099.
3
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 Jun;53(7):981-8. doi: 10.1515/cclm-2015-0171.
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
5
Pharmacogenomic information in drug labels: European Medicines Agency perspective.
Pharmacogenomics J. 2015 Jun;15(3):201-10. doi: 10.1038/tpj.2014.86. Epub 2015 Feb 24.
6
Racial/ethnic differences in drug disposition and response: review of recently approved drugs.
Clin Pharmacol Ther. 2015 Mar;97(3):263-73. doi: 10.1002/cpt.61. Epub 2015 Jan 20.
7
Inflammation-induced phenoconversion of polymorphic drug metabolizing enzymes: hypothesis with implications for personalized medicine.
Drug Metab Dispos. 2015 Mar;43(3):400-10. doi: 10.1124/dmd.114.061093. Epub 2014 Dec 17.
8
Genenames.org: the HGNC resources in 2015.
Nucleic Acids Res. 2015 Jan;43(Database issue):D1079-85. doi: 10.1093/nar/gku1071. Epub 2014 Oct 31.
9
Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers.
Annu Rev Pharmacol Toxicol. 2015;55:89-106. doi: 10.1146/annurev-pharmtox-010814-124835. Epub 2014 Oct 2.
10
Implementation and utilization of genetic testing in personalized medicine.
Pharmgenomics Pers Med. 2014 Aug 13;7:227-40. doi: 10.2147/PGPM.S48887. eCollection 2014.
Zotero 插件