Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin …

CA Bousman, JM Stevenson… - Clinical …, 2023 - Wiley Online Library
Serotonin reuptake inhibitor antidepressants, including selective serotonin reuptake
inhibitors (SSRIs; ie, citalopram, escitalopram, fluoxetine, fluvoxamine, paroxetine, and …

Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good

K Krebs, L Milani - Human genomics, 2019 - Springer
The field of pharmacogenomics (PGx) is gradually shifting from the reactive testing of single
genes toward the proactive testing of multiple genes to improve treatment outcomes, reduce …

Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and …

KE Caudle, K Sangkuhl, M Whirl‐Carrillo… - Clinical and …, 2020 - Wiley Online Library
Translating CYP 2D6 genotype to metabolizer phenotype is not standardized across clinical
laboratories offering pharmacogenetic (PGx) testing and PGx clinical practice guidelines …

HGVS recommendations for the description of sequence variants: 2016 update

JT Den Dunnen, R Dalgleish, DR Maglott… - Human …, 2016 - Wiley Online Library
The consistent and unambiguous description of sequence variants is essential to report and
exchange information on the analysis of a genome. In particular, DNA diagnostics critically …

Worldwide distribution of cytochrome P450 alleles: a meta‐analysis of population‐scale sequencing projects

Y Zhou, M Ingelman‐Sundberg… - Clinical Pharmacology …, 2017 - Wiley Online Library
Genetic polymorphisms in cytochrome P450 (CYP) genes can result in altered metabolic
activity toward a plethora of clinically important medications. Thus, single nucleotide variants …

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

KE Caudle, HM Dunnenberger, RR Freimuth… - Genetics in …, 2017 - Elsevier
Introduction Reporting and sharing pharmacogenetic test results across clinical laboratories
and electronic health records is a crucial step toward the implementation of clinical …

Prediction of CYP2D6 phenotype from genotype across world populations

A Gaedigk, K Sangkuhl, M Whirl-Carrillo, T Klein… - Genetics in …, 2017 - nature.com
Purpose: Owing to its highly polymorphic nature and major contribution to the metabolism
and bioactivation of numerous clinically used drugs, CYP2D6 is one of the most extensively …

[HTML][HTML] Recommendations for clinical CYP2D6 genotyping allele selection: a joint consensus recommendation of the Association for Molecular Pathology, College of …

VM Pratt, LH Cavallari, AL Del Tredici… - The Journal of Molecular …, 2021 - Elsevier
The goals of the Association for Molecular Pathology Clinical Practice Committee's
Pharmacogenomics (PGx) Working Group are to define the key attributes of …

[HTML][HTML] Frequency of CYP2D6 alleles including structural variants in the United States

AL Del Tredici, A Malhotra, M Dedek, F Espin… - Frontiers in …, 2018 - frontiersin.org
The CYP2D6 gene encodes an enzyme important in the metabolism of many commonly
used medications. Variation in CYP2D6 is associated with inter-individual differences in …

Research directions in the clinical implementation of pharmacogenomics: an overview of US programs and projects

S Volpi, CJ Bult, RL Chisholm… - Clinical …, 2018 - Wiley Online Library
Response to a drug often differs widely among individual patients. This variability is
frequently observed not only with respect to effective responses but also with adverse drug …