ClinPGx Blog (Page 34)

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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

Introducing CFTR as a Very Important Pharmacogene (VIP)

Variants within the CFTR gene underlie Cystic Fibrosis (CF). Traditionally, drugs used in the treatment of this disease have focused on ameliorating symptoms, fighting infection, thinning mucus and dampening inflammation. Now, drug development is focusing on pharmaceuticals that correct the underlying CFTR defect. The PharmGKB CFTR VIP summary describes potential

CPIC simvastatin & SLCO1B1 guideline 2014 update published

The 2014 update of CPIC guideline regarding SLCO1B1 and simvastatin-induced myopathy, has been published in Clinical Pharmacology and Therapeutics. CPIC extensively reviewed the literature from February 2011 to December 2013 and concluded that the dosing recommendations provided in the 2012 CPIC guideline for SLCO1B1 and simvastatin-induced myopathy have not changed.

New publication: PharmGKB Uric acid-lowering drugs pathway

Disorders involving uric acid levels are prevalent (e.g. gout, hyperuricemia and resultant kidney failure) and pharmaceuticals that reduce the generation, increase the removal or prevent the absorption of uric acid have been developed to treat these disorders. Two PharmGKB pathways depicting the mechanism of action of these drugs and

Big Data Conference Videos

Videos of the talks at the Stanford Big Data Conference 2014 are now available to watch online (view agenda). A selection of our favorite talks that are currently available to watch: * Michelle Whirl-Carrillo (Associate Director of PharmGKB, Stanford University) discusses the benefits and barriers of implementing pharmacogenetics into a patient&

New publication: NAT2 VIP Summary

The PharmGKB Very Important Pharmacogene (VIP) summary for NAT2 has been published in Pharmacogenetics & Genomics. The review summarizes the important role NAT2 plays in the metabolism and detoxification of many therapeutic drugs, and why genetic variants within the NAT2 gene are associated with drug-induced toxicity as well as cancer.

Tramadol pathway summary published in PG&G

Tramadol is a centrally acting opioid analgesic used to relieve moderate to severe pain. It is administered as a racemic mixture of (+) and (-) enantiomers and exerts its analgesic effect via activating the µ-opioid receptor and inhibiting the neurotransmitter reuptake. Tramadol metabolism to its major active metabolite O-desmethyl tramadol (M1)