ClinPGx Blog (Page 4)

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CPIC Guideline for Potent Volatile Anesthetic Agents and Succinylcholine - RYR1 variant update

The original guideline, supplement, and the supporting gene and drug files are available on the CPIC website. Annotations of the guideline, including an interactive genotype picker tool are available on the PharmGKB website. Subsequent to the publication of the CPIC Guideline for the Use of Potent Volatile Anesthetic Agents and

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 of

Save the Date: ClinPGx 2024 Meeting

In collaboration with CPIC, PharmGKB, PharmCAT and PharmVar, the University of Pennsylvania, Penn Center for Precision Medicine will be hosting the ClinPGx 2024: Knowledge, Implementation, Education meeting June 20th and 21st, 2024 in Philadelphia, PA. The meeting will provide educational content to cover all aspects of PGx implementation including knowledgebases,

Frequencies of Pharmacogenomic Alleles across UK Biobank Biogeographic Groups Published

We are happy to announce the publication of our latest research article in the American Journal of Human Genetics (AJHG), titled “Frequencies of Pharmacogenomic Alleles across Biogeographic Groups in a Large-Scale Biobank.” The paper is now available online on the AJHG website.Genetic biobanks provide rich data sets to investigate

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 use disorder.

Please Take This Survey If Your Site Conducts DPYD Genetic Testing Prior to Fluoropyrimidine Chemotherapy

Dan Hertz (DLHertz@med.umich.edu) and the DPYD Implementation Team are collecting information from sites and clinicians in the USA that conduct DPYD genetic testing prior to fluoropyrimidine chemotherapy treatment. If this applies to you, please complete this brief (<5 minutes) survey on behalf of your site before

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 the

ClinGen Pharmacogenomics Working Group (PGxWG) Survey To Close Soon

The ClinGen Pharmacogenomics Working Group (PGxWG)'s anonymous survey will close soon after this Friday, June 30, 2023. Our goal is to gather opinions and feedback regarding the criteria and terminology that should be used to define clinical validity and actionability for pharmacogenes and variants. If you have not

ClinPGx Sessions at PGRN 2023 Conference and ClinGen Summer Workshops

At the upcoming PGRN 2023 annual conference in Memphis, Dr. Teri E. Klein, the principle investigator for PharmGKB, ClinGen, CPIC and PharmCAT, will hold a town hall discussion on ClinPGx: a single integrated resource for Pharmacogenomics (PGx). Dr. Klein will discuss the challenge of the separation of pharmacogenomic resources from