ClinPGx Blog (Page 10)

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HGVS annotations now available on PharmVar

We are excited to share that PharmVar is now providing HGVS annotations in addition to their more traditional annotations. To accommodate different styles, the Variation Window has been redesigned. Clicking on any SNV on a PharmVar gene page will activate the variation window. The example shown below is for the

Update to FDA-approved drug label annotations

In February 2020, we blogged about the FDA's newly released Table of Pharmacogenetic Associations. Since then, there has been much interest in understanding how that table was created, how it compares to the information on the drug labels, and how it compares to the FDA's Table

CYP2B6 GeneFocus paper published

The latest paper in the PharmVar GeneFocus series, looking at CYP2B6, has now been published in Clinical Pharmacology and Therapeutics. CYP2B6 is the only member of the CYP2B subfamily to encode a functional enzyme. Variation in this gene impacts the metabolism of several clinically important drugs, including efavirenz (see the

CPIC opioids guideline now annotated on PharmGKB

The CPIC guideline for opioid therapy and CYP2D6, OPRM1 and COMT was recently published in Clinical Pharmacology and Therapeutics and has now been annotated on PharmGKB. This guideline is an update to the CPIC guideline for codeine and CYP2D6, but now includes information on two other genes, OPRM1 and COMT,

New PharmGKB pathway for Cannabidiol Pharmacokinetics

PharmGKB released a new pharmacokinetics pathway for Cannabidiol, a phytocannabionoid found in the Cannabis sativa plant approved to treat two rare forms of epilepsy. The pathway was produced by graduate student Kris Oreschak from the University of Colorado Denver Anschutz Medical Campus with guidance from scientific curator Dr Caroline F.

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

CPIC releases the CPIC database v.1.0

Clinical Pharmacogenetics Implementation Consortium (CPIC) has released the first version of its database and API to the public. The CPIC database is a relational database containing data from CPIC's guidelines in structured formats. These data include the guideline manuscript recommendations and information from all of the supporting guideline

CPIC releases updated Genes-Drugs list

Clinical Pharmacogenetics Implementation Consortium (CPIC) has posted an updated Genes-Drug list. Changes include: 1. A new column was added to the table called “CPIC Level Status”. Assigned CPIC levels have always been considered provisional unless and until the gene/drug pair has been reviewed in the course of a CPIC

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

PharmCAT grant awarded

The co-PIs of the Pharmacogenomics Clinical Annotation Tool (PharmCAT). Dr. Marylyn Ritchie of the University of Pennsylvania and Dr. Teri Klein of Stanford University were awarded a three year grant from the National Institutes of Health National Human Genome Research Institute (NIH NHGRI) to continue and expand the project. PharmCAT