Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

Kalman, LV; Agúndez, Jag; Appell, Malin Lindqvist; Black, J.H.; Bell, GC; Boukouvala, Sotiria; Bruckner, C; Bruford, Elspeth A.; Caudle, KE; Coulthard, SA; Daly, Ann K.; Tredici, AL Del; Dunnen, Johan T. den; Drozda, Katarzyna; Everts, RE; Flockhart, David A.; Freimuth, Robert R.; Gaedigk, Andrea; Hachad, Houda; Hartshorne, Toinette; Ingelman‐Sundberg, Magnus; Klein, Tirza; Lauschke, Volker M.; Maglott,; McLeod, H. L.; McMillin, GA; Meyer, Ursina; Müller, DJ; Da, Nickerson; Oetting, WS; Pacanowski, MA; Vm, Pratt; Mv, Relling; Roberts, Angharad; Ws, Rubinstein; Sangkuhl, Katrin; Schwab, Matthias; Scott, Stuart A.; Sim, SC; Thirumaran, RK; Lh, Toji; Tyndale, Rachel F.; Schaik, Rhn van; Whirl‐Carrillo, Michelle; Yeo, K-Tj; Zanger, UM

doi:10.1002/cpt.280

Cited by 146 publications

(125 citation statements)

References 45 publications

(51 reference statements)

Supporting

Mentioning

114

Contrasting

Unclassified

Order By: Relevance

“…Furthermore, multiple studies focused on the pharmacogenetic variability in Jewish populations (online supplementary table 1). However, those studies only analysed limited subsets of preselected variants using divergent genotyping strategies, which can cause problems in genotype calling and complicate the integration of the results of different studies 38. Furthermore, they often probed rather small and heterogeneous cohorts, such as Israeli Jews who themselves constitute a mixture of Ashkenazi (47%), Sephardic (30%) and Oriental (23%) origin, limiting the expressiveness of the obtained results.…”

Section: Discussionmentioning

confidence: 99%

Comprehensive overview of the pharmacogenetic diversity in Ashkenazi Jews

Zhou

Lauschke

2018

J Med Genet

View full text Add to dashboard Cite

The revealed pattern of pharmacogenetic variability in Ashkenazi Jews is distinctly different from other populations and is expected to translate into unique functional consequences, especially for the metabolism of CYP2A6, CYP2C9, NAT2 and VKORC1 substrates. We anticipate that the presented data will serve as a powerful resource for the guidance of pharmacogenetic treatment decisions and the optimisation of population-specific genotyping strategies in the Ashkenazi diaspora.

show abstract

Section: Discussionmentioning

confidence: 99%

Comprehensive overview of the pharmacogenetic diversity in Ashkenazi Jews

Zhou

Lauschke

2018

J Med Genet

View full text Add to dashboard Cite

show abstract

“…For the Delphi method used (Figure 1), CPIC solicited pharmacogenetic experts by email invitation to members of CPIC, PGRN, pharmacogenetic-related working groups for the Clinical Genome Resource (ClinGen; https://www.clinicalgenome.org), Institute of Medicine (IOM) DIGITizE Action Collaborative (http://iom.nationalacademies.org/Activities/Research/GenomicBasedResearch/Innovation-Collaboratives/EHR.aspx), Centers for Disease Control and Prevention PGx nomenclature workgroup, 13 Global Alliance for Genomics and Health (GA4GH; http://ga4gh.org), ACMG (https://www.acmg.net), Electronic Medical Records and Genomics (eMERGE; https://emerge.mc.vanderbilt.edu/), the CHAMP online resource for AMP members (http://champ.amp.org), and the College of American Pathologists (CAP). In addition, experts not included in the above groups were solicited by posting a description of the project on the PharmGKB website.…”

Section: Methodsmentioning

confidence: 99%

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

Caudle

Dunnenberger

Freimuth

et al. 2017

Genetics in Medicine

436

316

View full text Add to dashboard Cite

INTRODUCTIONReporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of clinical pharmacogenetics, but allele function and phenotype terms are not standardized. Our goal was to develop terms that can be broadly applied to characterize pharmacogenetic allele function and inferred phenotypes.MATERIALS AND METHODSTerms currently used by genetic testing laboratories and in the literature were identified. The Clinical Pharmacogenetics Implementation Consortium (CPIC) used the Delphi method to obtain consensus and agree on uniform terms among pharmacogenetic experts.RESULTSExperts with diverse involvement in at least one area of pharmacogenetics (clinicians, researchers, genetic testing laboratorians, pharmacogenetics implementers, and clinical informaticians; n=58) participated. After completion of five surveys, consensus (>70%) was reached with 90% of experts agreeing to the final sets of pharmacogenetic terms.DISCUSSIONThe proposed standardized pharmacogenetic terms will improve the understanding and interpretation of pharmacogenetic tests and reduce confusion by maintaining consistent nomenclature. These standard terms can also facilitate pharmacogenetic data sharing across diverse electronic health care record systems with clinical decision support.

show abstract

“…Para cada enzima el alelo silvestre se designa como *1 y las variantes alélicas se numeran de manera secuencial según han sido identificadas (*2, *3, etc.) 30 . Es por estas variantes que la respuesta farmacológica o la susceptibilidad a la acción de tóxicos varía extraordinariamente entre diferentes individuos 31 (ver detalle en http://www.cypalleles.ki.se/).…”

Section: Biotransformación/metabolismo De Fármacosunclassified

Farmacogenómica como herramienta fundamental para la medicina personalizada: aplicaciones en la práctica clínica

et al. 2017

View full text Add to dashboard Cite

Pharmacogenomics is an emergent field aimed at tailoring pharmacological therapy. Genetic polymorphisms can modify the expression and function of enzymes and proteins involved in drug metabolism, affecting absorption, distribution, biotransformation and excretion as well asU n hecho bien conocido es que los pacientes responden en forma diferente frente a la farmacoterapia y que ningún medicamento es 100% eficaz en todos los pacientes. Esta respuesta variable se debe, en gran medida, a factores genéticos, epigenéticos y ambientales, que afectan a las proteínas que metabolizan o transportan los fármacos, sus blancos terapéuticos (receptores) o ambos, influenciando tanto su eficacia como su seguridad, y en donde la contribución de cada factor varía en cada fármaco 1-4 . La Tabla 1 resume los factores que condicionan la variación interindividual en la respuesta a fármacos.Debido al desarrollo de técnicas no invasivas de ingeniería genética y biología molecular y a la necesidad de encontrar una explicación a las variaciones en la respuesta a la acción de fármacos es que actualmente la farmacogenómica ha adquirido gran relevancia en la investigación farmacológica. Es así como los resultados de los del Proyectos Genoma Humano 7 , Internacional HapMap 8 1.000 Genomas, el consorcio SNP 9 y los estudios GWAS (Genome-Wide Association Studies) 10 han aportado importantemente a nuestra comprensión de la variación genética humana 5,11,12 . Actualmente se sabe que existen 20.296 genes codificantes, 148.892.479 SNPs (polimorfismos de un solo nucleótido) y 4.363.564 variantes estructurales

show abstract

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

Cited by 146 publications

References 45 publications

Comprehensive overview of the pharmacogenetic diversity in Ashkenazi Jews

Comprehensive overview of the pharmacogenetic diversity in Ashkenazi Jews

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

Farmacogenómica como herramienta fundamental para la medicina personalizada: aplicaciones en la práctica clínica

Contact Info

Product

Resources

About