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Katrin Sangkuhl

New CPIC guideline: potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes

The CPIC Guidelines for potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes is now published in Clinical Pharmacology and Therapeutics. The accepted article can be viewed on the PharmGKB pages for RYR1 and CACNA1S, and the CPIC website. Potent volatile anesthetic agents are used

New PharmGKB pathways for methylphenidate

PharmGKB released two new pathways for methylphenidate. Methylphenidate is a central nervous system stimulant used for the treatment of attention deficit hyperactivity disorder and narcolepsy and elicits its effects by blocking the reuptake of the neurotransmitter dopamine and norepinephrine into the presynaptic neuron. The pharmacokinetics pathway depicts the metabolism and

CYP2D614A and 14B are updated to 114 and 14 based on the current PharmVar release

PharmGKB and CPIC revised the CYP2D6 allele names *14A and *14B to be in concordance with the latest major PharmVar release. CYP2D6*14A is revised to *114 and *14B to *14 in the variant and clinical annotations. The allele choices in the annotation of the CPIC guidelines for CYP2D6 have

CYP2D6 genotype to phenotype standardization project - seeking feedback

The assignment of the CYP2D6 metabolizer phenotype based on a subject's genotype is an important aspect of clinical implementation of pharmacogenetics knowledge. Especially for CYP2D6, the genotype-inferred phenotypes vary across laboratories and guidelines. The goal of the CYP2D6 genotype to phenotype standardization project is to harmonize this translation.

New CPIC Guideline: CYP2D6 and tamoxifen

The CPIC Guideline for tamoxifen and CYP2D6 is now published in Clinical Pharmacology and Therapeutics. The accepted article can be viewed on the PharmGKB page for tamoxifen, and the CPIC website. Tamoxifen is a selective estrogen receptor modulator (SERM) and is utilized in breast cancer treatment. Tamoxifen is extensively metabolized,

PharmCAT commentary in Clinical Pharmacology & Therapeutics

A commentary about the Pharmacogenomics Clinical Annotation Tool (PharmCAT) was recently published in Clinical Pharmacology & Therapeutics. PharmCAT is developed in a collaboration between the former PGRN Statistical Analysis Resource (P-STAR) and the Pharmacogenomics Knowledgebase (PharmGKB) with input from other groups (click here for a list of participants). PharmCAT will

CPIC Guideline Update: CYP2D6, CYP2C19 and tricyclic antidepressants (TCAs)

The 2016 update of the guidelines by the Clinical Pharmacogenetics Implementation Consortium (CPIC) regarding the use of pharmacogenetic tests for CYP2D6 and CYP2C19 in dosing tricyclic antidepressants (TCAs) have been accepted for publication in Clinical Pharmacology and Therapeutics. The accepted article can currently be viewed on the PharmGKB and CPIC

Coverage of PharmCAT in GenomeWeb

In April 2016 and August 2016 we blogged about the development of PharmCAT and its presentation at the American Society of Human Genetics (ASHG) annual meeting in October. The Pharmacogenomics Clinical Annotation Tool (PharmCAT) is a software tool to extract all CPIC level-A variants from a genetic dataset (represented as

Standardized allele function and phenotype terms for clinical pharmacogenetic test results

In December 2014 and February 2015, we blogged about the CPIC term standardization project. CPIC (Clinical Pharmacogenetics Implementation Consortium) just published the results of this project in Genetics in Medicine. Consensus terms for allele function and phenotype were determined by starting with a broad list of terms currently used by

Prediction of CYP2D6 phenotype from genotype across world populations

A. Gaedigk and S. Leeder together with PharmGKB published an article in Genetics in Medicine about the prediction of CYP2D6 phenotypes from genotype data across world populations (http://www.nature.com/gim/journal/vaop/ncurrent/full/gim201680a.html).In the supplemental materials of Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines involving