ClinPGx Blog (Page 27)

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A Study of the Transcriptomic Variation Affecting Pharmacogenes

In an effort to capture differences in the expression of pharmacogenes between individuals and between tissue types and to characterize novel pharmacogene splice variants, researchers conducted a transcriptomic analysis of 389 pharmacologically important genes in liver, kidney (cortex), heart (left ventricle), and adipose tissue from 139 individuals as well as

January SNPits Summary

The January issue of SNPits, the University of Florida’s Personalized Medicine Program e-newsletter, summarizes pharmacogenetics studies. The first is a 2009 article from the journal Gastroenterology. The authors conducted a multi center, randomized controlled trial whereby patients were given high or low-dose celecoxib, or placebo, and were followed up

The Pharmacogenetic Phenome Compendium, A Chemical–Genetic Interaction Map

Development of new drugs is a complicated and difficult process, with many initially promising compounds falling by the wayside due to unforeseen off-target or genotype-specific effects. In an effort to address some of these problems a new paper by Breinig et. al. describes a high-throughput process for screening small molecules

Constellation: tool for automated CYP2D6 phenotype assignment from WGS

A team from Children’s Mercy and the University of Missouri in Kanas City including Andrea Gaedigk and Greyson Twist published an article about a CYP2D6 phenotype assignment tool in Genomic Medicine (http://www.nature.com/articles/npjgenmed20157). Constellation, a probabilistic scoring system, enables automated ascertainment of CYP2D6 activity scores

Cisplatin FDA label changes

In 2013 we blogged about the controversy with the FDA labeling for cisplatin and its warning for TPMT variants and increased risk of ototoxicity in children. The 2012 label stated: “Certain genetic variants in the thiopurine S-methyltransferase gene (e.g., TPMT*3B and TPMT*3C) are associated with an increased

ACMG Issues a Revised Position Statement Regarding DTC Genetic Testing

The American College of Medical Genetics (ACMG) recently revised its position statement regarding direct-to-consumer (DTC) genetic testing. Briefly, the ACMG recommends that: * Knowledgeable professionals order the genetic test, which should be undertaken by a Clinical Laboratory Improvement Amendments (CLIA) accredited laboratory. * Board certified genetics experts, such as clinical geneticists, or

DIGITizE Suggests Implementing 2 CPIC Guidelines in CDS

The DIGITizE Action Collaborative has suggested that Clinical Decision Support (CDS) be implemented based on CPIC's TPMT/azathioprine and HLA-B/abacavir guidelines. DIGITizE (Displaying and Integrating Genetic Information Through the EHR) is a collaborative group of the Institute of Medicine consisting of key stakeholders interested in integrating genomic

Combining large PGx datasets from cancer cell lines

Testing cancer cell lines in vitro for drug sensitivity is a cornerstone of preclinical drug development. Large publically available datasets can be found at The Genomics of Drug Sensitivity in Cancer Project(GDSE) and The Cancer Cell Line Encyclopedia (CCLE). Studies attempting to combine large public datasets and analyzing for

ASHP Foundation Recognizes Clinical Implementation of PGx

The University of Illinois (UI) Personalized Medicine Program led by Dr. Edith Nutescu, is one of three finalists for the 2015 Award for Excellence in Medication-Use Safety, which is given by the American Society of Health-Systems Pharmacists (ASHP) Foundation. The program at the UI Hospital and Health Sciences System has

CPIC Upcoming Meetings - Save the Date!

The Clinical Pharmacogenetics Implementation Consortium is holding a meeting for members in 2016 and an open meeting in 2017.CPIC Luncheon Meeting (open to CPIC members)Thursday March 10th, 2016 Noon-1:30 PMHilton Bayfront Hotel, San Diego, CAEmail: kelly.caudle@stjude.org to attendCPIC Meeting (a specialty meeting of the