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A collection of 62 issues

New PharmVar GeneFocus published for CYP2A6

PharmVar expert panel for CYP2A6 has published a review that presents allele nomenclature and includes a discussion on additional genes in the locus: CYP2A13 and CYP2A7 [PMID:39051767]. CYP2A6 metabolizes a variety of drugs including nicotine, efavirenz, tegafur, letrozole, and metronidazole for which PharmGKB has interactive pharmacokinetics pathways available. (There

PharmVar GeneFocus paper for SLCO1B1 is published

The PharmVar GeneFocus: SLCO1B1 paper has just been published by Clinical Pharmacology & Therapeutics. This review provides a general overview of SLCO1B1 as well as a deeper dive into its nomenclature. This GeneFocus covers genetic variability, functional impact, clinical relevance, gene nomenclature before and after PharmVar updates, methods for allele

PharmGKB Acyclovir/Ganciclovir Pathway Published

The PharmGKB Acyclovir/Ganciclovir Pathway has recently been published in the journal Pharmacogenetics and Genomics. Acyclovir (ACV) and ganciclovir (GCV) are commonly prescribed antivirals to treat infections caused by herpes viruses, varicella-zoster virus or cytomegalovirus (eg. cold sores, shingles and chicken pox, etc.). The pathway, co-developed by Maud Maillard along

CPIC Publishes Guideline for SLCO1B1, ABCG2, CYP2C9 and Statin Therapy

The CPIC guideline for SLCO1B1, ABCG2, and CYP2C9 and statin-associated musculoskeletal symptoms (SAMS) has been published in the journal Clinical Pharmacology and Therapeutics. This guideline is an update to the CPIC guideline for simvastatin and SLCO1B1, but now includes expanded literature review on four additional genes, ABCG2, CYP2C9, HMGCR and

PharmGKB Heparin-Induced Thrombocytopenia Pathway published

A PharmGKB pathway of heparin-induced thrombocytopenia (HIT) has been published in Pharmacogenetics and Genomics. Heparin is a commonly used anticoagulant. The pathway, written by Elise Miller along with other members of the Karnes lab at the University of Arizona as well as members of the PharmGKB team, outlines the atypical

CPIC® Guideline for Potent Volatile Anesthetic Agents and Succinylcholine and RYR1 and CACNA1S update

The ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel recently published recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility (PMID: 33767344). These revised ACMG/AMP criteria were applied to the 44 variants originally included in the CPIC recommendations (PMID: 30499100) and 29 variants were classified as pathogenic, 13 as

PharmGKB Tutorial Published

We are pleased to announce that an updated PharmGKB tutorial has now been published in Current Protocols. The paper describes how to navigate the PharmGKB website to retrieve information on how genes and genetic variations affect drug efficacy and toxicity. It also includes a protocol on how to use PharmGKB

White paper on assigning LOE to clinical annotations now published

A previous blog post described our new quantitative system for assigning a level of evidence (LOE) to clinical annotations. We are pleased to announce that our white paper about the system has now been published in Clinical Pharmacology and Therapeutics and is available on the PharmGKB website. The paper details

Review and Consensus on Pharmacogenomic Testing in Psychiatry published in Pharmacopsychiatry

Review and Consensus on Pharmacogenomic (PGx) Testing in Psychiatry was recently published in the journal Pharmacopsychiatry [PMID: 33147643]. In the sections pharmacogenomic mechanisms, pharmacogenomic evidence and guidelines for psychiatry, and pharmacogenomic testing in psychiatry the review provides an up-to-date summary of recent developments that clinicians should know when considering PGx

PharmGKB tutorial for pharmacogenomics of drugs potentially used in the context of COVID-19

The PharmGKB tutorial for pharmacogenomics of drugs potentially used in the context of COVID-19 is now published in Clinical Pharmacology and Therapeutics. The article is the first in a series of Pharmacogenomics Knowledgebase (PharmGKB) tutorials intended as a resource to help users become quickly acquainted with the wealth of information