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PharmGKB Staff

Pharmacodynamic pathways for drugs that lower uric acid levels

Unlike other animals, humans and apes have lost the ability to break down uric acid. High uric acid levels (hyperuricemia) can result in gout and kidney failure, and are a symptom of Tumor Lysis Syndrome experienced by some cancer patients. Two new PharmGKB pathways describe the mechanism of action of

Controversy over the PGx of Cisplatin-Induced Hearing Loss in children

Hearing loss is a common side effect in cancer patients treated with cisplatin, with significant effects on quality of life. Age, dosage, cranial irradiation and concomitant vincristine use are all established risk factors for cisplatin ototoxicity. However, there is debate surrounding genetic variants associated with risk and the clinical utility

PharmGKB Drug Labels: Description, Update and New Features

PharmGKB has recently added new information to drug label entries, standardized the annotations, and updated the website display. The overview page for drug labels contains high level information about each label at a glance, including: * Whether the drug label is currently on the FDA's Table of Pharmacogenomic Biomarkers

NIH funds ClinGen: a resource to establish which genetic variants are clinically relevant

The NIH (NHGRI and NICHD) has awarded more than $25 million over the course of 4 years for the development of the Clinical Genome Resource (ClinGen). The aim of ClinGen is to provide a framework for the evaluation of genetic variants that are clinically relevant, working with the NCBI which

New EGFR VIP Summary Published in PG&G

The epidermal growth factor receptor (EGFR) is involved in the growth of many epithelial malignancies, such as non-small-cell lung cancer (NSCLC), pancreatic and colorectal cancer. It has therefore been a key target for the development of cancer therapeutics. These include tyrosine kinase inhibitors (gefinitib and erolinitib) and monoclonal antibodies (cetuximab

Tamoxifen Pharmacokinetic Pathway Published

Tamoxifen, a selective estrogen receptor modulator, is used in the treatment and prevention of estrogen receptor positive breast cancer. The paper detailing the pharmacokinetic pathway of tamoxifen has been published by PG&G and can be found online. The pathway can also be found on our website. View all

New PharmGKB VIP Summary: NAT2

N-acetyltransferase enzymes (NAT1 and NAT2) are involved in the metabolism and detoxification of xenobiotics. NAT2 is predominantly expressed in the liver and has a role in the metabolism of numerous therapeutic drugs including caffeine and BiDil. Genetic variants in the NAT2 gene result in a slow, intermediate or rapid acetylator

PharmGKB PGx summaries now available in the Genetic Testing Registry

The Genetic Testing Registry (GTR) now contains summaries written by PharmGKB Curators regarding the association between genes and drug responses that have CPIC therapeutic recommendations. These can be found on the GTR website under Conditions/Phenotypes and links to relevant clinical tests are provided on each page: * Warfarin response * Codeine

Visualizing Levels of Evidence

PharmGKB Clinical Annotations provide a summary of an association between a genetic variant and a drug response. Each is assigned a level of evidence by our curators, based on established criteria. We have created an illustration to help users understand the 4 levels of evidence:

CPIC guidelines now posted on guidelines.gov

Six CPIC PGx-based dosing guidelines are now available on the National Guideline Clearinghouse website, a public resource for evidence-based clinical guidelines, an initiative of the Agency for Healthcare Research and Quality, US Department of Health Services. View the CPIC guidelines on the NGC website: * CYP2D6, CYP2C19 & tricyclic antidepressants * CYP2D6