ClinPGx Blog (Page 29)

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DTC genetic testing and the role of primary care providers

An original research manuscript and a corresponding editorial published recently in Annals of Internal Medicine analyze interactions of patients with their primary care providers (PCP) regarding their direct to consumer (DTC) genetic testing results. Van der Wouden et al. found that out of 1026 respondents, 277 discussed their results with

FDA-approved drug label for abacavir updated

In an update to the FDA-approved drug label for abacavir (ZIAGEN), the wording within the Boxed Warning section has changed. It now uses stronger language to support screening for HLA-B*57:01 prior to treatment with abacavir. The following is an excerpt from the boxed warning: "All

The Precision Medicine Initiative: Consultative PGx and Data Sharing at Stanford University

On February 25th, one year after the announcement of the Precision Medicine Initiative (PMI), the White House hosted the Precision Medicine Summit. A White House press release described how various public and private groups will be taking steps to advance the goals of the PMI. As part of the PMI

EPIC Integrates Genelex's Pharmacogenomics Decision Support System into Electronic Health Records

On Feb 23rd, Pharmagenomics (PGx) testing company Genelex announced enhanced connection with Epic, the most widely used electronic health record (EHR) system in US. With this new connectivity, healthcare systems and providers using Epic EHRs will be able to use Genelex's YouScript Precision Prescribing software to better identify

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

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

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

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