ClinPGx Blog (Page 35)

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New CPIC Guideline: CYP2C9, HLA-B and Phenytoin

Guidelines regarding the use of pharmacogenomic tests for CYP2C9 and HLA-B in dosing phenytoin have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC). Phenytoin is broadly used to treat epilepsy, but it has a narrow therapeutic index and wide inter-patient variability. Much

PGx of anti-HIV drug described in new PharmGKB pathway

Efavirenz (EFV) is a non-nucleoside reverse transcriptase inhibitor used as part of a highly active anti-retroviral therapy (HAART) regimen against HIV-1 infection. Large variability in EFV plasma levels is observed between patients given the same dose. Genetic variants underlying EFV metabolism have been shown to contribute to

New study reveals PGx knowledge gaps among physicians

A recent study in the journal Pharmacogenomics and Personalized Medicine reveals clear pharmacogenomic “knowledge gaps” among physicians. Katherine A Johansen Taber and Barry D Dickinson of the American Medical Association surveyed 300 physicians across the United States to gauge their familiarity with pharmacogenomics as well as their knowledge of how

PGx analysis of 482 whole genomes

Few studies have analyzed whole genomes for PGx-related variants - instead, many utilize genotyping platforms made up of known variants. A recent analysis of 482 whole genome sequences has revealed interesting findings for 231 ADMET*-related genes: * On average, each individual had a total of 17,733 variants in these

New PharmGKB pathway: Paroxetine

The paroxetine PK pathway is the newest addition to PharmGKB's pathway summaries. Paroxetine is a selective serotonin reuptake inhibitor (SSRI) used for the treatment of multiple psychiatric disorders including mood, panic, anxiety, and obsessive compulsive disorders. The pathway diagram depicts candidate genes mediating the transformation of paroxetine into

New PharmGKB VIP Summary: HLA-B

Human leukocyte antigen B (HLA-B) is a cell-surface molecule responsible for the presentation of endogenous peptides to cytotoxic CD8+ T cells. This presentation of peptides allows for the recognition of pathogens, and leads to an immune reaction that destroys the infected cell. Variations within the HLA-B gene

European approval of additional CFTR variants listed for ivacaftor use

The drug Ivacaftor (Kalydeco) was originally indicated for use in cystic fibrosis (CF) patients with one or two copies of the G551D variant (rs75527207) in the CFTR gene. The European Commission has approved the use of ivacaftor in patients with an expanded list of CFTR variants that all result in

Praise for PharmGKB

PharmGKB is “the Holy Grail” for DNA STAT, a company that provides pharmacogenomics testing for patients. DNA STAT goes on to praise PharmGKB’s “accessibility and comprehensiveness” and highlights its “interactive SNP features and tools for education and clinical implementation of genetic data.”

Ifosfamide PK and PD pathways published in PG&G

Ifosfamide is a produg used in combination chemotherapy for the treatment of solid tumors. Around 20% of patients experience toxicity. Pathways depicting the genes involved in the pharmacokinetics and pharmacodynamics of ifosfamide have been published in PG&G. Variants in these genes that are associated with toxicity and drug

New PharmGKB VIP Summary: CYP4F2

Cytochrome p450, family 2, subfamily F, polypeptide 2 (CYP4F2) is known to catalyze multiple biological reactions. It is predominantly expressed in the liver and kidneys, although there is evidence that it is also expressed in the intestines. Of specific interest in pharmacogenetics, hepatic CYP4F2 regulates the bioavailability of vitamin K