ClinPGx Blog (Page 33)

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The genetics of warfarin dose: focus on African Americans

Warfarin has a narrow therapeutic window, therefore it is important to get the dosage for a patient correct - too low or too high a dose can have dangerous consequences. However, there is large interindividual variability in dose. Incorporation of a patient's genotypes at the polymorphisms CYP2C9*2

Gemcitabine pathway published in Pharmacogenetics and Genomics

Gemcitabine is a cancer drug used to treat solid tumors as well as certain blood cancers. It can be administered alone or in combination with other drugs as part of a chemotherapy regimen. The genetic variants hypothesized to play a role in the variability of patient response to gemcitabine as

SNP-its Study Summaries

The University of Florida Health Personalized Medicine Program has released "SNP-its" study summaries for pharmacogenomic articles with clinical relevance. The editorial team reviews articles from multiple journals and writes summaries for the ones most relevant to practicing clinicians. Those interested are welcome to subscribe to a monthly newsletter.

CPIC PEG interferon-alpha guideline now available on guideline.gov

More CPIC PGx-based dosing guidelines are now available on the National Guideline Clearinghouse (NGC) website. NGC is a public resource for evidence-based clinical guidelines, an initiative of the Agency for Healthcare Research and Quality, US Department of Health Services. The most recent CPIC guideline on NGC is: Clinical Pharmacogenetics Implementation

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 of this

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 this variability. A

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 affect which peptides