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Caroline Thorn, Curator

CAUTION: which SNV is your VKORC1 assay is using?

The recent publication "Limitations of VKORC1 rs9934438 as a Surrogate Marker for Vitamin K Antagonist Dose Adjustment" Abraham García-López, Andrea Guzmán-de Antonio, Tania S. Rubio-Lepe, Elena Diago-Sempere, Juan Raffo-Nogueira, Pedro Arias, Belén Ferrer-Martínez, Sonia Rodriguez-Novoa, Antonio J. Carcas, Irene García-García,

PharmVar Gene Focus on CYP4F2

PharmVar expert panel has reviewed and published a Gene Focus paper on CYP4F2 [PMID: 39135485]. The most well known drug pathway involving CYP4F2 is warfarin, where it is involved in the cycling of vitamin K. The CPIC guideline for warfarin and CYP4F2 gives details of the pharmacogenomic algorithms for warfarin

New must-test alleles for DPYD

The recently published article 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

New Fluoropyrimidine Toxicity Variants Reported in DPYS and PPARD

A recent paper highlights new variants and genes associated with severe fluoropyrimidine-related toxicity in patients who were genotyped as negative for the four DPYD variants the European Medicines Agency recommends testing for. Online ahead of print in the Human Genomics journal is De Mattia et al "The burden

Disulfiram Pathway published in Pharmacogenetics and Genomics

Substance abuse disorders are a significant public health cost [PMID: 34453125]. Prescribers have limited choices for pharmaceutical therapies with only three FDA-approved choices for alcohol use disorder and zero for cocaine use disorder. Disulfiram is an FDA-approved treatment for alcohol use disorder which is also used for cocaine

New AMP testing recommendations for alleles in CYP3A4 and CYP3A5

The Association for Molecular Pathology, 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, and Pharmacogenomics Knowledgebase have jointly published recommendations on what constitutes the minimum panel of variant alleles (tier 1) and an

Insights on CYP2C19 and phenoconversion

Phenoconversion in the PGx context is a drug-drug interaction that impacts a drug metabolizing phenotype such that it mimics the effects of a metabolizer genotype (see blog from October 2022). Historically much of the discussion on phenoconversion has focused on CYP2D6. A new paper in Frontiers in Pharmacology investigates

CYP3A5 genotyping is a more accurate predictor of drug response than race alone

A new paper in Journal of Clinical Pharmacology from a group at Indiana University [PMID:37042314] implemented genotyping for CYP3A5 in a kidney transplant center. The team used CPIC guidelines for tacrolimus dosing based on CYP3A5 genotype. Implementation included provider education and clinical decision support in the electronic medical record.

It’s national poetry month again!

I am not a mouse. It’s the reference allele (hg38). I am not a mouse. It's the common variant In these folks tested. Saw on minus strand G is the major allele In this group tested. C is the minor It’s the reference allele (hg38). Last

CYP2C18 and knowledge gaps

Pablo Zubiaur & Andrea Gaedigk have an editorial online ahead of print in Pharmacogenomics calling for the inclusion of CYP2C18 in more studies of drug metabolism [PMID: 36331025]. CYP2C18 is in a cluster on chromosome 10 that has CYP2C18, CYP2C19, CYP2C9 and CYP2C8 that spans 500k bases (NCBI gene browser)