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Pharmacogenetics

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Molecular Pathology in Clinical Practice

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Abstract

Pharmacogenetics is the study of the genetic determinants of drug response variability. Some pharmacogenetic tests can be used to explain or predict adverse events and/or non-responsiveness to therapy. The goal and promise of clinical pharmacogenetic testing is to deliver the right drug to the right person at the right dose. As such, when a genetic variant directly involved in drug response variability is identified in a patient prior to initiating therapy, adverse reactions, excessive use of ineffective drugs, or ineffective dosing can hopefully be prevented. Despite challenges to demonstrate clinical utility, clinical tests are currently available for selected genes where clinical validity has largely been established. This chapter describes pharmacogenetic applications for which clinical tests are currently available, including CYP2D6, CYP2C19, CYP2C9 and VKORC1, TPMT, and UGT1A1.

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Authors and Affiliations

  1. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Stuart A. Scott Ph.D.

  2. Mount Sinai Genetic Testing Laboratory, New York, NY, USA

    Stuart A. Scott Ph.D.

  3. Department of Pathology, University of Utah School of Medicine, 500 Chipeta Way, MS-115, Salt Lake City, UT, 84108, USA

    Elaine Lyon Ph.D.

  4. Molecular Genetics and Genomics, ARUP Laboratories, 500 Chipeta Way, MS-115, Salt Lake City, UT, 84108, USA

    Elaine Lyon Ph.D.

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  1. Stuart A. Scott Ph.D.
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Correspondence to Elaine Lyon Ph.D. .

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Editors and Affiliations

  1. Pathology and Laboratory Medicine, University of Vermont College of Medicine and University of Vermont Medical Center, Burlington, Vermont, USA

    Debra G.B. Leonard

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Scott, S.A., Lyon, E. (2016). Pharmacogenetics. In: Leonard, D. (eds) Molecular Pathology in Clinical Practice. Springer, Cham. https://doi.org/10.1007/978-3-319-19674-9_21

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