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Pediatric PharmGKB User Survey

Similar to our PharmGKB user survey in October-November, we have launched a user survey to gather feedback about the use of our Pediatric PharmGKB website. All user responses are greatly appreciated; no matter who you are, where you are in the world or how many times you have used Pediatric

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

Pathways in progress, a way to accelerate the pathways visible to users

Thanks to user feedback regarding the PharmGKB pathways, we understand that many of our pathways are used for teaching and presentations, and that users love the detailed figures. We are also aware that many users are interested in the underlying data -- what's on the components tab, the

Survey of PharmGKB API usage

PharmGKB is wholly supported by NIH (NHGRI and NICHD). As we prepare for grant renewal, we are asking users of our API to provide us with 3-4 brief pieces of information to help us demonstrate the importance of our API to the global PGx community. If you use our API,

New pathways on PharmGKB

The following pathways have been recently released on PharmGKB: Acenocoumarol Pharmacokinetics Phenprocoumon PharmacokineticsPiroxicam Pharmacokinetics Siponimod Pharmacokinetics/Pharmacodynamics Aminoglycoside Ototoxicity, Adverse Drug Reaction These pathways cover gene-drug pairs which have been assigned level A or B by CPIC.A full list of PharmGKB pathways can be found at https://www.pharmgkb.

PharmGKB User Survey

We have launched a user survey to help inform the future direction of PharmGKB. All user responses are greatly appreciated; no matter who you are, where you are in the world or how many times you have used PharmGKB. The survey is split into two parts. The first section takes

SLCO1B1 added to PharmVar

PharmVar and PharmGKB are excited to share that SLCO1B1 nomenclature is now maintained by PharmVar. This important drug transporter, also known as OATP1B1, has been shown to facilitate the uptake of stains into the liver. Furthermore, genetic variation has been shown to cause musculoskeletal symptoms impeding statin effectiveness. Star nomenclature

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