ClinPGx Blog (Page 2)

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PharmGKB data now available in OpenTargets

Data from PharmGKB clinical annotations are now integrated into OpenTargets; a free online tool which brings together data from publicly available datasets to help prioritize potential drug targets. The Pharmacogenetics section of the profile for both drugs and targets (genes) now shows information from PharmGKB clinical annotations, including the phenotype

Update to the CPIC Guideline for Thiopurines Regarding Dual TPMT and NUDT15 Intermediate Metabolizers

CPIC has updated guidance for patients who are both TPMT and NUDT15 Intermediate Metabolizers from "Clinical Pharmacogenetics Implementation Consortium Guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 Update". From the CPIC website: "At the time of guideline publication, the extent of reduction for thiopurines

PharmCAT Tutorial Videos Now Available on YouTube

Pharmacogenomics Clinical Annotation Tool (PharmCAT) tutorial videos are now available on the PharmGKB YouTube channel. The tutorial videos provide clear, step-by-step instructions for running PharmCAT from command lines. By providing genotype-based drug prescribing recommendations, we hope to engage the wider genomics community and create a standard for the use in

NAT2 now released on PharmVar

PharmVar and PharmGKB are excited to share that NAT2 has been transitioned into the PharmVar database and updated accordingly on PharmGKB. NAT2 metabolizes several pharmaceutical substrates, including isoniazid, hydralazine, amifampridine, procainamide and sulfonamides, as well as some highly carcinogenic arylamines. NAT2 enzymatic activity varies considerably between individuals, due to polymorphisms

ClinPGx 2024 Registration and Abstract Submission Open

REGISTRATION OPEN In collaboration with CPIC, PharmGKB, PharmCAT and PharmVar, the Penn Institute for Biomedical Informatics will be hosting the ClinPGx 2024: Knowledge, Implementation, Education meeting on June 20th and 21st, 2024 in Philadelphia, PA. This meeting will provide educational content to cover all aspects of PGx implementation, including knowledgebases,

Release of Additional PharmGKB Pediatric Drug Summaries

A new round of PharmGKB's pediatric drug summaries is now available on PharmGKB under the Pediatric Focus. To view the site with the focus active, please select the "Focus" button in the upper right-hand corner and toggle the "Pediatric Focus" setting. Users can also

Updates to Drug Label Annotation Tags and Criteria for PGx levels

PharmGKB has made some changes in the Drug Label Annotation process to clarify the pharmacogenomic (PGx) relationships of biomarkers. PharmGKB curates all drug labels on the FDA’s Table of Pharmacogenomic Biomarkers in Drug Labeling and previously attempted to classify all labels with PharmGKB-created “PGx levels” . However many of the

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,