ClinPGx Blog (Page 31)

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NAT2 plays a role in insulin sensitivity

N-acetyltransferase 2 (NAT2) has long been known to metabolize xenobiotics but the endogenous substrates of NAT2 remain unknown. A new study published in “The Journal of Clinical Investigation” provides convincing evidence that NAT2 plays a role in the regulation of insulin sensitivity. The authors of the study reported that several

New CPIC Guideline: CYP3A5 and Tacrolimus

Guidelines regarding the use of pharmacogenetic tests for CYP3A5 in dosing tacrolimus have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC). Tacrolimus is an immunosuppressive agent administered to transplant recipients to prevent and treat allograft rejection. Clinical use of tacrolimus is complicated by its

ABCB5 and haloperidol-induced toxicity: Results from a new study

Approximately 50% of patients treated with the antipsychotic drug haloperidol will develop extrapyramidal symptoms, a category that includes tremors, parkinsonism and decreased spontaneous movement. However, studies looking into the genetic variations associated with the development of these symptoms have been limited. In a study recently published in PLOS Medicine, Zheng

Our 10-step guide to enabling your PGx study to be curated

At PharmGKB we manually curate pharmacogenetic (PGx) associations found in published articles and add them to our database. However, lack of information or clarity is unfortunately common in publications and these hurdles make it difficult or impossible to curate a particular association. We have published a guideline in Clinical Pharmacology

PharmGKB VIP summary for CFTR published

The PharmGKB summary describing CFTR as a pharmacogene has been published by Pharmacogenetics & Genomics. Genetic variants within the CFTR gene are the target of new Cystic Fibrosis therapies and drugs in development. The hope is that patients will be better treated with personalized medicines tailored to the underlying defects

FDA Proposed Regulation of Laboratory Developed Tests (LDTs)

Dear Colleagues, As you may know, the FDA is considering regulating laboratory developed tests (LDTs) and had an open comment period that ended February 2, 2015. We would like to share with you a response that we wrote from our perspective at PharmGKB, working with the Stanford Law School “IP

Genomic CDS Sandbox

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Pathways of acetaminophen metabolism at therapeutic versus toxic doses

We have updated the acetaminophen pharmacokinetic pathway, which depicts the metabolism at therapeutic doses. In addition we added a new pathway illustrating the metabolism of acetaminophen at toxic doses.Acetaminophen (paracetamol) is widely used for its analgesic and antipyretic properties. Acetaminophen is mostly converted by glucuronidation and sulfation. A minor

CPIC Term Standardization Survey Has Been Released

In December 2014, we wrote a blog entry about the CPIC term standardization project. CPIC (Clinical Pharmacogenetics Implementation Consortium) is leading an effort to standardize terms for clinical pharmacogenetic tests, and the terms will be used in future CPIC guidelines. The hope is for the terminology to be adopted by

President Obama Unveils Details of the Precision Medicine Initiative

President Obama has requested that congress authorize $215 million dollars to fund the newly announced Precision Medicine Initiative. In addition to focusing on the development of cancer treatments tailored to individual cancers the initiative proposes to develop a research consortium to do a longitudinal cohort study of one million people.