ClinPGx Blog (Page 9)

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PharmGKB announces the launch of PharmGKB Pediatric

PharmGKB Pediatric (https://pediatric.pharmgkb.org) is a "view" of PharmGKB (https://www.pharmgkb.org) that highlights pharmacogenomic annotations that (1) are based on pediatric studies or (2) may be relevant to pediatrics. All of the annotations found on PharmGKB are also on PharmGKB Pediatric. A quick way

NIH Request for Information on Scientific Data Sources

The U.S. National Institutes of Health (NIH) has put out a Request for Information (RFI) on User Experience with Scientific Data Sources and Tools in order to better understand the use of these resources by the scientific community. We’re asking the pharmacogenomics community to consider responding to the

PharmCAT Version 1.0 Released

Version 1.0 of the Pharmacogenomics Clinical Annotation Tool (PharmCAT) has been released today (September 27, 2021). PharmCAT is a software tool that takes genetic data for an individual as VCF file input, interprets the pharmacogene alleles, diplotypes and phenotypes, and generates reports with CPIC's genotype-based drug prescribing

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

New PK pathways for drugs on the CPIC gene-drug pairs list

PharmGKB has curated new pathways for the pharmacokinetics of the following drugs that are on the CPIC gene-drug pairs list and either have existing guidelines or are slated for future consideration. Antidepressant: Trimipramine Inhaled anesthetics: Desflurane Enflurane Halothane Methoxyflurane Sevoflurane NSAIDs: Flurbiprofen Lornoxicam Meloxicam A complete list of PharmGKB pathways

CPIC releases guideline for MT-RNR1 and aminoglycosides

The CPIC guideline for aminoglycoside antibiotics and variation in the mitochondrial gene MT-RNR1 has been published in the journal Clinical Pharmacology and Therapeutics. Aminoglycosides are widely used antibiotics which inhibit protein synthesis in bacteria by binding to the bacterial 16S ribosomal subunit. They are also associated with adverse events, including

PharmGKB/CPIC Twitter chat for Healthcare Providers Genomics Education week

PharmGKB and CPIC recently hosted a Twitter chat sharing pharmacogenomics resources as part of NHGRI's Healthcare Providers Genomics Education week (#MedGeneEd21). An archive of the chat is displayed below. #MedGeneEd21 PGx chat - Curated tweets by pharmgkb

Expanded Pharmacokinetics Pathways for PPIs

The Proton Pump Inhibitor Pathway, Pharmacokinetics has been updated and expanded to now highlight four pathways with candidate genes and drug metabolites involved for: Omeprazole and esomeprazole, Lanzoprazole and dexlansoprazole, Pantoprazole and Rabeprazole. The pathways illustrate the subtle differences between the metabolism of drugs in the class, their different sensitivities

CPIC seeks feedback for MT-RNR1 terminology

We announced last December that the Clinical Pharmacogenetics Implementation Consortium (CPIC) was launching its Term Standardization Pharmacogenetic Test Results - Part 2 project. The project is currently focused on MT-RNR1, as that guideline wraps up. The MT-RNR1 Gene/Disease and PGx expert panels have agreed on terminology for MT-RNR1 and