ClinPGx Blog (Page 15)

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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

Pharmacogenomics in the clinic

In 2018, Stanford Medicine launched a pilot project, Humanwide, using precision health approaches to predict, prevent and treat disease based on the individual patient in primary care. Over the past year, the Humanwide project provided care to a diverse group of 50 patients based on their individual factors, from lifestyle

New CPIC Guideline: CYP2B6 and efavirenz

The CPIC Guideline for CYP2B6 and efavirenz is now published in Clinical Pharmacology and Therapeutics. The accepted article can be viewed on the PharmGKB pages for efavirenz, CYP2B6, and on the CPIC website. Efavirenz is a non-nucleoside reverse transcriptase inhibitor widely used worldwide to treat HIV-1 infection. It is predominantly

PharmGKB opinion piece on pharmacogenomic RCTs published in Clinical Pharmacology and Therapeutics

Is supporting evidence from a randomized controlled trial (RCT) always necessary when implementing pharmacogenomics in the clinic? In an opinion piece authored by members of the PharmGKB team and published in Clinical Pharmacology and Therapeutics, we argue that an overreliance on evidence from RCTs is not beneficial to pharmacogenomic implementation.

CYP2C19 testing may assist with prescribing sertraline and escitalopram

Mary Relling (St. Jude Children's Research Hospital) and I (Teri Klein) as Co-Principal Investigators of the Clinical Pharmacogenetics Implementation Consortium (CPIC) have been discussing the letter that the FDA recently sent to a genomics laboratory expressing concern that “providers may make inappropriate treatment decisions based” on pharmacogenetic testing