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A collection of 62 issues

Nature Outlook: Precision Medicine on Pharmacogenetics highlights its status, promise, and burdens

An outlook on precision medicine in Nature discusses the status, promise, and burdens of the implementation of pharmacogenetic knowledge into clinical care. It highlights the PGEN4Kids program at St Jude, which is implementing CPIC recommendations in a preemptive genetic testing program for pediatric patients. As discussed in the article, CPIC

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

Common variant found in populations of African descent linked with increased risk of venous thromboembolism

Roxana Daneshjou, along with co-authors Teri Klein and Russ Altman of PharmGKB, have published a paper describing a previously uncharacterized SNP in the Protein S (PROS1) gene that increases risk of venous thromboembolism (VTE). VTE is more common in African American populations than in populations of European descent, yet the

Evidence of pharmacogenetics in aiding polypharmacy outcomes

Many drugs interact with the same enzymes and transporters. As a result, variation in the genes encoding these proteins can affect risks of side effects and likelihood of treatment success for patients taking many medications. These interactions may be different and not necessarily predicted from trials of single drugs. Knowing

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

Framework Published to Guide Development of PGx Public Policy, Applied in Canada

The paper, “The 3-I framework: a framework for developing public policies regarding pharmacogenomics (PGx) testing in Canada” was published last week in NRC Research Press. It presents a political science framework of considering ideas, interests, and institutions to identify challenges and needs for PGx implementation. The analysis is presented as

Article on PGx by Dean Julie A. Johnson in The Conversation

Dean Julie A. Johnson, Dean of the College of Pharmacy, Distinguished Professor of Pharmacy and Medicine, and Director of the University of Florida Health Personalized Medicine Program at University of Florida published an article in The Conversation on November 20th, 2015 providing an overview of pharmacogenetics. Within the article, Dean

International Workgroup Recommendations for Pharmacogenetic Test Result Reporting

Lack of standardization in gene nomenclature systems and inconsistencies between laboratory reports of genetic test results have been identified as significant barriers to the implementation of (PGx) information in the clinic. PharmGKB members Teri Klein, Katrin Sangkuhl, and Michelle Whirl-Carrillo were part of an international workgroup of pharmacogenomic (PGx) experts

Pharmacogenomics in the clinic: Review article in this week's Nature

In the most recent edition of Nature, Dr. Mary Relling and Dr. William Evans provide a review of pharmacogenomic implementation in the clinic. Within the article, they provide an overview of the history of pharmacogenomics (PGx), and then discuss the current state of diagnostic testing and clinical implementation of PGx.