Curators' Favorite Papers

Electronic medical record-integrated pharmacogenomics and related clinical decision support concepts
Authors: Caraballo PJ Bielinski SJ St Sauver JL Weinshilboum RM

The authors of this article from Clinical Pharmacology and Therapeutics, discuss the challenges to successful integration of pharmacogenetic/pharmacogenomic (PGx) clinical decision support (CDS) tools into electronic health and medical records (EMR). They provide examples of medical systems that have already done so and they specifically highlight the success of the Mayo Clinic where CDS tools for eleven PGx genes and nineteen drug-gene interactions have been successfully integrated into EMRs and patient care.

https://www.ncbi.nlm.nih.gov/pubmed/28390138


Celebrating parasites
Authors: Greene CS, Garmire LX, Gilbert JA, Ritchie MD, Hunter LE.

This correspondence to Nature Genetics is a response to a controversial 2016 editorial from the the New England Journal of Medicine in which the term, “research parasites” was coined. The term described those researchers who do secondary analyses of data generated by other researchers. The authors argue that “parasites” serve an important purpose in research and that the critical re-analysis of data is crucial for the practice of science. To honor such research, they announce two inaugural award categories at this year's Pacific Symposium on Biocomputing: the Junior Parasite Award and the Sustained Parasite Award.

https://www.ncbi.nlm.nih.gov/pubmed/28358134

March for Science

On April 22, 2017 — members of the PharmGKB team, participated with thousands of other scientists and non-scientists alike, in the March for Science. Please join us, as did Russ Altman (Co-Prinicipal Investigator, PharmGKB) and the larger scientific community in the continuation of evidence-based science.

Thiopurine Pathway updated with new candidate genes

Thiopurines and TPMT have long been a cornerstone of PGx research. As such the Thiopurine Pathway was one of the earliest pathways in PharmGKB to be published in Pharmacogenetics and Genomics [PMID:19952870]. In collaboration with Jun Yang, Takaya Moriyama and Rina Nishii from St Judes, we have substantially updated the Thiopurine Pathway to include new candidate genes in particular NUDT15. NUDT15 will also be featured in a new VIP summary next month. 

The new Thiopurine Pathway figure focuses more on the drug metabolites (which are clickable and linked to Pubchem structures and publications) and candidates for their formation. We have also updated the text to include the kind of summary and literature review PharmGKB pathways are known for, and have a more detailed underlying set of components to allow for data export/analysis. 

Sorafenib pathways published in Pharmacogenetics and Genomics

The PharmGKB review of the Sorafenib pathways has been published in the journal Pharmacogenetics and Genomics. Sorafenib (NEXAVAR^®, BAY43-9006) is an oral anti-cancer drug approved for the treatment of metastatic or advanced liver, kidney, and thyroid cancers.  Although many new targeted therapies have been tested over the past decade, sorafenib remains the standard of care for these diseases due to its modest efficacy and acceptable tolerability. In this review, we discuss the pharmacokinetic and pharmacodynamic properties of sorafenib and highlight genetic variations that may contribute to the diverse pharmacological responses to sorafenib. 

Find out more...

View interactive pathways on PharmGKB:
Sorafenib Pharmacokinetics Pathway
Sorafenib Pharmacodynamics Pathway

Read our new publication:

PharmGKB summary: Sorafenib Pathways

Pharmacogenet Genomics. 2017 Mar 30

Gong Li, Giacomini Marilyn M, Giacomini Craig, Maitland Michael L, Altman Russ B, Klein Teri E

PMID: 28362716

View all pathways on PharmGKB.