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Julia Barbarino, Curator

Pilot study from Genomics England to report on DPYD variants

A pilot study from Genomics England is now reporting back DPYD variants in cancer patients as part of the 100,000 Genomes Project. The DPYD protein is responsible for degrading fluoropyrimidine drugs, which include 5-fluorouracil and capecitabine. These drugs are commonly used in the treatment of cancer. Decreased activity of

CPIC Dosing Guidelines for DPYD and Fluoropyrimidines Updated

An update to the CPIC dosing guidelines for DPYD and fluoropyrimidines has recently been added to the CPIC and PharmGKB websites. The most recent version of the guideline, published in Clinical Pharmacology & Therapeutics in November 2017, recommended that patients who were DPYD intermediate metabolizers with an activity score of

DPYD genotyping implementation study published

In a journal article published online last week in The Lancet Oncology, Henricks et al. reported that DPYD genotype-based dose reductions of fluorouracil and capecitabine in cancer patients resulted in improved safety outcomes and was feasible in clinical practice. The authors prospectively genotyped four DPYD variants: rs3918290 (1905+1G>

2018 Precision Medicine Conference

UF Precision Medicine Conference is focused on implementing PGx and genomic medicine, happening March 2018 in Orlando, Florida. See the website for registration and more information.

CPIC Guideline Update: DPYD and Fluoropyrimidines

The 2017 update of the CPIC Guideline for Fluoropyrimidines and DPYD is now available as an advance online publication in Clinical Pharmacology and Therapeutics. CPIC extensively reviewed the literature up to March 2017. Both the dosing recommendations and supplemental information were updated. The accepted article can currently be viewed on

Pharmacogenomics on Nightly News with Lester Holt

The Wednesday, June 28th edition of the Nightly News with Lester Holt featured a short segment on pharmacogenomics. The piece briefly covered the Mayo Clinic's work in expanding the use of pharmacogenomics in the clinic. Dr. Richard Weinshilboum, co-director of the pharmacogenomics program at the Mayo Clinic, was

Voriconazole and Macrolide Antibiotic Pathways featured on PG&G Covers

PharmGKB was pleased to see our pathways featured on two successive covers of the journal Pharmacogenetics and Genomics. Our macrolide antibiotic pharmacokinetics and pharmacodynamics pathway was featured on the cover of the April issue, and our voriconazole pharmacokinetics pathway was featured on the cover of the May issue. PharmGKB curators

New CPIC Guideline - CYP2C19 and voriconazole

Guidelines by the Clinical Pharmacogenetics Implementation Consortium (CPIC) regarding the use of pharmacogenetic tests of CYP2C19 for voriconazole prescribing decisions have been accepted for publication in Clinical Pharmacology and Therapeutics. The accepted article can currently be viewed on the PharmGKB or CPIC websites. Voriconazole is a triazole antifungal agent active

New and Updated PMDA label translations now available

New translations of package inserts from the Pharmaceutical and Medical Devices Agency (PMDA), Japan, as well as updated translations of existing package inserts, are now available on PharmGKB. The PMDA is a regulatory agency responsible for scientific reviews for the approval of drugs or medical devices, as well as safety

Very Important Pharmacogene (VIP) summary for MT-RNR1 published in Pharmacogenetics and Genomics

The PharmGKB review of the MT-RNR1 gene has been published in the December issue of Pharmacogenetics and Genomics. MT-RNR1 is a mitochondrial gene that codes for ribosomal RNA (rRNA). Variations within this gene, particularly rs267606617 (1555A>G), are strongly associated with the development of hearing loss following administration of