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A collection of 62 issues

Sequence to Medical Phenotypes, a Framework for Interpretation, Published in PLoS Genetics

As the cost of whole genome sequencing plummets and becomes more attractive for widespread application, utility depends on identifying and understanding the importance of specific genetic variants in disease risk and drug response. While tools do exist for interpretation of variants and for predicting phenotypes of novel variation, few are

PharmGKB succinylcholine PK/PD pathway published in Pharmacogenetics and Genomics

Succinylcholine (SCH) is a depolarizing neuromuscular blocking agent with a rapid onset of action and short half-life. SCH is commonly used in medical procedures requiring short-term skeletal muscle paralysis, such as intubation during surgery, or emergency medical procedures. The “PharmGKB summary: succinylcholine pathway, PK/PD” has been published in Pharmacogenetics

New CPIC Guideline- UGT1A1 and atazanavir

Guidelines regarding the use of pharmacogenetic tests of UGT1A1 for atazanavir prescribing decisions have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC).Atazanavir is an antiretroviral protease inhibitor administered to patients infected with the human immunodeficiency virus (HIV). Atazanavir, often co-administered with low-dose ritonavir

PharmGKB Pathway Peginterferon-α published in Pharmacogenetics and Genomics

The PharmGKB summary: peginterferon-α pathway has been published in the Pharmacogenetics and Genomics Journal. Peginterferon-α (pegylated interferon-α or PEG-IFN-α) is an antiviral drug used to treat chronic hepatitis C virus (HCV) infection. The PharmGKB review summarizes the pharmacokinetics and pharmacodynamics of peginterferon-α and also discusses genetic variations around the IFNL3

PharmGKB efavirenz pharmacokinetic pathway published in Pharmacogenetics and Genomics

The PharmGKB summary describing the efavirenz (EFV) pharmacokinetic pathway, and the pharmacogenetic variants that affect EFV pharmacokinetics has been published by Pharmacogenetics & Genomics. Efavirenz (EFV) is a non-nucleoside reverse transcriptase inhibitor that is used as part of a highly active anti-retroviral therapy (ART) regimen (HAART) against HIV-1 infection. The

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

PharmGKB ibuprofen pathways published in Pharmacogenetics and Genomics

We have published the PharmGKB summary: ibuprofen pathways in the Pharmacogenetics and Genomics Journal. This review summarizes the metabolism and transport of ibuprofen, its mechanism of action and discusses genetic variations affecting the pharmacokinetics, efficacy and toxicity of ibuprofen and their clinical significance. Find out more... View our ibuprofen PK

PharmGKB VIP Summary for CYP4F2 published in Pharmacogenetics and Genomics

The PharmGKB Very Important Pharmacogene (VIP) summary describing important pharmacogenetic variants in CYP4F2 was recently published by Pharmacogenetics & Genomics. Cytochrome p450, family 2, subfamily F, polypeptide 2 (CYP4F2) catalyzes the oxidation of the terminal carbon of the side chains of vitamin K, vitamin E, arachidonic acid (AA), and leukotriene