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Fundamentals of Drug Metabolism and Pharmacogenomics Within a Learning Healthcare System Workflow Perspective

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Personalized and Precision Medicine Informatics

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Abstract

This chapter introduces fundamental concepts of pharmacogenomics, including drug metabolism, and provides an informatics workflow-based perspective inspired by a learning healthcare system framework. Our intent is that the reader sees pharmacogenomics as a foundation of precision medicine, which is reliant upon informatics to deliver actionable patient-tailored knowledge at the point of care. Further, pharmacogenomics knowledge is poised to be further developed so as to be amenable to multi-drug comorbid disease treatment necessitated by precision medicine practice. Upon reviewing this chapter, we hope the reader understands how informatics is uniquely suited to i) enhance clinic-based precision medicine practice through appropriate dissemination of patient-tailored actionable pharmacogenomics knowledge, and ii) to advance the knowledge base underpinning pharmacogenomics by gleaning insights from real world outcomes of these same clinic-based populations. The methodologic considerations highlighted within this workflow-base perspective encompass end-to-end forward and reverse translational informatics activities, designed to both appropriately deploy existing pharmacogenomics knowledge, as well as contribute to its advancement by harnessing insights from real-world data.

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Notes

  1. 1.

    Editors’ note: for more details on machine learning algorithm and model selection, error estimation and avoiding over- and under-fitting the reader can refer to Chap. 8.

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Authors and Affiliations

  1. Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

    Matthew K. Breitenstein

  2. Department of Bioinformatics, Nemours Biomedical Research, Wilmington, DE, USA

    Erin L. Crowgey

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Correspondence to Matthew K. Breitenstein .

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Editors and Affiliations

  1. Pharmaceutical Care & Health Systems, University of Minnesota Pharmaceutical Care & Health Systems, Minneapolis, MN, USA

    Terrence Adam

  2. Institute for Health Informatics, University of Minnesota, Minneapolis, MN, USA

    Constantin Aliferis

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Breitenstein, M.K., Crowgey, E.L. (2020). Fundamentals of Drug Metabolism and Pharmacogenomics Within a Learning Healthcare System Workflow Perspective. In: Adam, T., Aliferis, C. (eds) Personalized and Precision Medicine Informatics. Health Informatics. Springer, Cham. https://doi.org/10.1007/978-3-030-18626-5_5

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  • DOI: https://doi.org/10.1007/978-3-030-18626-5_5

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-18625-8

  • Online ISBN: 978-3-030-18626-5

  • eBook Packages: MedicineMedicine (R0)

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