ClinPGx Blog (Page 25)

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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

Improvements for Variant data in PharmGKB

PharmGKB is constantly improving the way we organize and annotate data in the field of pharmacogenomics. One of our recent improvements involves how we store and refer to Variants. Genetic variation is a very important part of what we do here at PharmGKB. That importance means we need a clear

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

Wall Street Journal Discusses Predispositional Personal Genome Sequencing, PGx

A recent article by Laura Landro in the Wall Street Journal titled “Why Knowing Your Genetic Data Can Be a Tricky Proposition” discusses the benefits and complications of Predisposition Personal Genome Sequencing (PPGS) and the Personal Genome Sequencing Outcomes, or PeopleSeq consortium. PPGS is preemptive genome sequencing of apparently healthy

Congratulations to Dr. Rochelle Long in her new role at NIGMS

The PharmGKB team congratulates Dr. Rochelle Long, our program officer for the past 16 years, in her new role as Director of NIGMS Division of Pharmacology, Physiology, and Biological Chemistry. Dr. Long’s vision, leadership, dedication, friendship and support have been instrumental in elevating and maturing the field of pharmacogenomics.

Spring SNPits Summary

The Spring edition of UF Health Personalized Medicine Program's e-newsletter, SNPits is out now. This edition of SNPits summarizes and discusses publications in the American Journal of Health-System Pharmacy, Gastroenterology, and Genetics in Medicine. The first publication summary was of a retrospective study that analyzed the pharmacogenetic (PGx)

PGRN meeting at ASHG October 17-18, 2016

The PGRN is hosting a symposium, The Expanding Universe of Pharmacogenomics, right before the ASHG Annual Meeting in Vancouver, Canada on October 17 & 18, 2016. The symposium is open to all ASHG attendees, PGRN members and others who are interested. Details and agenda can be found at http://www.

NIGMS Request for Information: Approaches for Supporting Team Science in the Biomedical Research Community

The National Institute of General Medical Sciences (NIGMS) has issued a request for information (RFI: Approaches for Supporting Team Science in the Biomedical Research Community) in order to seek input on how best to support team-based scientific research. The NIGMS defines team science as research that requires multiple investigators to

Race and Pharmacogenetics discussed in the New England Journal of Medicine

The authors of a new Perspective in the New England Journal of Medicine (“Will precision medicine move us beyond race?”) focus on the potential pitfalls of using race based categories as proxies for pharmacogenetic variants. Self-identified race may not predict genotype or drug response in individual patients and the use