ClinPGx Blog (Page 15)

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CYP2D6 Gene Review by PharmVar published in CPT

The Pharmacogene Variation (PharmVar) Consortium just published the inaugural article of a gene-centered series of review papers in Clinical Pharmacology & Therapeutics. The reviews are covering clinical relevance, genetic variability, allele frequencies and function, ethnic differences, gene nomenclature before and within PharmVar, curation efforts, particular gene-specific challenges, PharmVar features and

ACLA writes to the FDA about PGx testing

The American Clinical Laboratory Association (ACLA) has written a letter to the US Food and Drug Administration (FDA) regarding the FDA’s recent communications about pharmacogenomic (PGx) testing. The letter details the ACLA’s concerns that the FDA’s actions will have a significant impact on both patients and the

Michelle Whirl-Carrillo -- Director of the PharmGKB!

We are happy to announce that Dr. Michelle Whirl-Carrillo has agreed to take on the position of Director of PharmGKB. Michelle has worked with the PharmGKB for over 15 years (not including a 1.5 year “sabbatical” at 23andme). She has served as lead curator, Assistant Director, and (since 2014)

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

PharmCAT article published in Clinical Pharmacology & Therapeutics

The article describing the Pharmacogenomics Clinical Annotation Tool (PharmCAT) and a pilot validation using GeT-RM samples was recently published in Clinical Pharmacology & Therapeutics. PharmCAT (1) extracts variants specified in guidelines from a genetic dataset derived from sequencing or genotyping technologies; (2) infers haplotypes and diplotypes; and (3) generates a

CYP2C9, CYP2C19, and CYP2D6 core alleles

We recently blogged about the use of PharmVar core alleles as the basis for the PharmGKB/CPIC CYP2D6, CYP2C19, and CYP2C9 allele definition tables, which are available as part of the gene-specific information tables. In addition to the core variant(s), the definition includes ambiguous nucleotides to reflect variation present

CPIC to issue guidance on non-actionable pharmacogenes

The Clinical Pharmacogenetics Implementation Consortium (CPIC) hopes to provide more guidance in the future about gene-drug pairs which have a weak evidence base and are not clinically actionable, despite being heavily marketed to healthcare providers and the public. Many of these gene-drug pairs have already been curated by CPIC staff

PharmGKB ondansetron and tropisetron pathways published in Pharmacogenetics and Genomics

The PharmGKB pathways for ondansetron and tropisetron have been published in the June 2019 issue of Pharmacogenetics and Genomics. Ondansetron and tropisetron are serotonin receptor antagonists which are prescribed for their antiemetic activity. After an overview of the pharmacokinetics and pharmacodynamics of each drug, the publication discusses the current pharmacogenetic

PharmVar core alleles to be used by PharmGKB and CPIC

PharmVar has released core alleles - single, rule-based definitions per star allele distilled from the respective suballeles - for the cytochrome P450 genes CYP2C9, CYP2C19, and CYP2D6. Only sequence variations that change an amino acid or impact function by changing expression levels or interfere with splicing and are present in

Pharmacogenomics for dermatologists

An introduction to pharmacogenomics in dermatology has been published in Seminars in Cutaneous Medicine and Surgery by Stanford Medicine dermatology resident Dr. Roxana Daneshjou, PharmGKB curator Dr. Rachel Huddart and PharmGKB co-PIs Dr. Teri Klein and Dr. Russ Altman.After introducing the field of pharmacogenomics, the paper highlights some of