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The Roles of CYP2C19 and CYP3A4 in Voriconazole Pharmacogenetics

Voriconazole is a triazole antifungal agent used to treat serious fungal infections. It is primarily used in immunocompromised patients, such as those undergoing organ transplantation. CYP2C19 is the primary enzyme responsible for voriconazole metabolism. CYP3A4, CYP3A5 and CYP2C9 also play a role, secondary to CYP2C19. The influence of genetic polymorphisms

Curators' Favorite Papers

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized TrialJason L. Vassy, MD, MPH, SM; Kurt D. Christensen, PhD, MPH; Erica F. Schonman, MPH; Carrie L. Blout, MS, CGC; Jill O. Robinson, MA; Joel B. Krier, MD; Pamela M. Diamond, PhD;

Pharmacogenomics on Nightly News with Lester Holt

The Wednesday, June 28th edition of the Nightly News with Lester Holt featured a short segment on pharmacogenomics. The piece briefly covered the Mayo Clinic's work in expanding the use of pharmacogenomics in the clinic. Dr. Richard Weinshilboum, co-director of the pharmacogenomics program at the Mayo Clinic, was

AMIA 10x10 Virtual Pharmacogenomics course with Stanford University begins June 26, 2017

The American Medical Informatics Association (AMIA) has partnered with the Biomedical Informatics program at Stanford University to present an online course in pharmacogenomics (PGx) as part of the AMIA 10 x 10 series. The course, Pharmacogenomics, will introduce the field and cover topics relevant to PGx including pharmacology, genomics, genome

The Next Look for PharmGKB

PharmGKB is excited to show you our all-new website design. We’ve been working hard for months to create a new user interface that serves all of PharmGKB’s content in a clear and flexible way.You can see the new design by visiting next.pharmgkb.org.The “next” site

Curators' Favorite Papers

Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx StudyAuthors: Rasmussen-Torvik LJ, Almoguera B, Doheny KF, Freimuth RR, Gordon AS, Hakonarson H, Hawkins JB, Husami A, Ivacic L, Kullo IJ, Linderman MD, Manolio TA, Obeng AO, Pellegrino R, Prows CA, Ritchie MD, Smith M, Stallings SC, Wolf WA,

IGNITE Network Analysis of Genomic Medicine Implementation Published in BMC Medical Genomics

A new paper in BMC Medical Genomics describes a multi-case study of six IGNITE (Implementing GeNomics In pracTicE) network sites currently implementing genomics, including pharmacogenomics, into patient care. The authors discuss challenges to implementation as well as subsequent strategies to address those challenges. All participating IGNITE institutions cited low prioritization

CPIC Survey Available Online

An important function of CPIC (Clinical Pharmacogenetics Implementation Consortium) is to receive feedback from, and give feedback to, our user communities. CPIC has posted a survey that is part of that feedback and contains questions regarding priorities for CPIC guidelines, as well as feedback on SNOMED CT term submissions. CPIC

Voriconazole and Macrolide Antibiotic Pathways featured on PG&G Covers

PharmGKB was pleased to see our pathways featured on two successive covers of the journal Pharmacogenetics and Genomics. Our macrolide antibiotic pharmacokinetics and pharmacodynamics pathway was featured on the cover of the April issue, and our voriconazole pharmacokinetics pathway was featured on the cover of the May issue. PharmGKB curators

NHGRI’s Genomic Medicine X: Pharmacogenomics Meeting

On May 2 and 3, 2017, the National Human Genome Research Institute (NHGRI) held its 10th Genomic Medicine meeting, focusing on pharmacogenomics. PharmGKB, PharmCAT and CPIC were presented, as well as a review of the deposition of PharmGKB and CPIC data to ClinVar. We thank Mary Relling from St Jude