Browsing by Author "Woodahl, Erica L."

Now showing 1 - 3 of 3
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    PharmVar GeneFocus: CYP2C19
    (Wiley, 2021) Botton, Mariana R.; Whirl-Carrillo, Michelle; Del Tredici, Andria L.; Sangkuhl, Katrin; Cavallari, Larisa H.; Agúndez, José A.; Duconge, Jorge; Lee, Ming Ta Michael; Woodahl, Erica L.; Claudio-Campos, Karla; Daly, Ann K.; Klein, Teri E.; Pratt, Victoria M.; Scott, Stuart A.; Gaedigk, Andrea; Medicine, School of Medicine
    The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele nomenclature for the polymorphic human CYP2C19 gene. CYP2C19 genetic variation impacts the metabolism of many drugs and has been associated with both efficacy and safety issues for several commonly prescribed medications. This GeneFocus provides a comprehensive overview and summary of CYP2C19 and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase and the Clinical Pharmacogenetics Implementation Consortium (CPIC).
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    PharmVar GeneFocus: CYP2C9
    (Wiley, 2021-09) Sangkuhl, Katrin; Claudio‐Campos, Karla; Cavallari, Larisa H.; Agundez, Jose A.G.; Whirl‐Carrillo, Michelle; Duconge, Jorge; Del Tredici, Andria L.; Wadelius, Mia; Rodrigues Botton, Mariana; Woodahl, Erica L.; Scott, Stuart A.; Klein, Teri E.; Pratt, Victoria M.; Daly, Ann K.; Gaedigk, Andrea; Medical and Molecular Genetics, School of Medicine
    The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele nomenclature for the polymorphic human CYP2C9 gene. Genetic variation within the CYP2C9 gene locus impacts the metabolism or bioactivation of many clinically important drugs including NSAIDs, phenytoin, anti-diabetic agents and angiotensin receptor blocker. Variable CYP2C9 activity is of particular importance regarding efficacy and safety of warfarin and siponimod as indicated in their package inserts. This GeneFocus provides a comprehensive overview and summary of CYP2C9 and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).
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    The Pharmacogenomics Global Research Network Implementation Working Group: global collaboration to advance pharmacogenetic implementation
    (Wolters Kluwer, 2025) Cavallari, Larisa H.; Hicks, J. Kevin; Patel, Jai N.; Elchynski, Amanda L.; Smith, D. Max; Bargal, Salma A.; Fleck, Ashley; Aquilante, Christina L.; Killam, Shayna R.; Lemke, Lauren; Ochi, Taichi; Ramsey, Laura B.; Haidar, Cyrine E.; Ho, Teresa; El Rouby, Nihal; Monte, Andrew A.; Allen, Josiah D.; Beitelshees, Amber L.; Bishop, Jeffrey R.; Bousman, Chad; Campbell, Ronald; Cicali, Emily J.; Cook, Kelsey J.; Duong, Benjamin; Tsermpini, Evangelia Eirini; Girdwood, Sonya Tang; Gregornik, David B.; Grimsrud, Kristin N.; Lamb, Nathan; Lee, James C.; Lopez, Rocio Ortiz; Mazhindu, Tinashe Adrian; Morris, Sarah A.; Nagy, Mohamed; Nguyen, Jenny; Pasternak, Amy L.; Petry, Natasha; van Schaik, Ron H. N.; Schultz, April; Skaar, Todd C.; Al Alshaykh, Hana; Stevenson, James M.; Stone, Rachael M.; Tran, Nam K.; Tuteja, Sony; Woodahl, Erica L.; Yuan, Li-Chi; Lee, Craig R.; Medicine, School of Medicine
    Pharmacogenetics promises to optimize treatment-related outcomes by informing optimal drug selection and dosing based on an individual's genotype in conjunction with other important clinical factors. Despite significant evidence of genetic associations with drug response, pharmacogenetic testing has not been widely implemented into clinical practice. Among the barriers to broad implementation are limited guidance for how to successfully integrate testing into clinical workflows and limited data on outcomes with pharmacogenetic implementation in clinical practice. The Pharmacogenomics Global Research Network Implementation Working Group seeks to engage institutions globally that have implemented pharmacogenetic testing into clinical practice or are in the process or planning stages of implementing testing to collectively disseminate data on implementation strategies, metrics, and health-related outcomes with the use of genotype-guided drug therapy to ultimately help advance pharmacogenetic implementation. This paper describes the goals, structure, and initial projects of the group in addition to implementation priorities across sites and future collaborative opportunities.