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Pharmacogenetics

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Vogel and Motulsky's Human Genetics

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Abstract

The goal of pharmacogenetics is to identify genetic differences among patients that influence treatment response. Pharmacogenetics also represents a tractable target for systematic studies, because key treatment responses are both clinically important and amenable to genetic investigation. Despite a number of paradigmatic studies, pharmacogenetics has to date only had a minimal impact in medicine. Here we outline several methodological considerations for implementation in future studies and also detail how we can best apply the lessons learned from extensive genetic studies on disease predisposition in order to advance the state of pharmacogenetic knowledge and to expedite the translation of pharmacogenetic find-ings into clinical practice. We conclude that while the study of common variation may provide some insight, like the study of disease predisposition itself, pharmaco-genetics will ultimately require characterization of rare human gene variants.

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Author information

Authors and Affiliations

  1. Department of Biology, Duke University, Durham, NC, USA

    Nicole M. Walley

  2. Center for Human Genome Variation, Institute for Genome Sciences and Policy, Duke University, Durham, NC, USA

    Nicole M. Walley

  3. Center for Human Genome Variation, Institute for Genome Sciences and Policy, Duke University, Durham, NC, USA

    Paola Nicoletti

  4. Department of Clinical and Preclinical Pharmacology, University of Florence, Florence, Italy

    Paola Nicoletti

  5. Center for Human Genome Variation, Institute for Genome Sciences and Policy, Duke University, Durham, NC, 27708, USA

    David B. Goldstein

Authors
  1. Nicole M. Walley
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  2. Paola Nicoletti
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  3. David B. Goldstein
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Editor information

Editors and Affiliations

  1. Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, Graz, 8010, Austria

    Michael R. Speicher

  2. Departments of Medicine (Division of Medical Genetics) and Genome Sciences, University of Washington School of Medicine, 1705 N.E. Pacific St., 355065, Seattle, WA, 98195-5065, USA

    Arno G. Motulsky (Professor Emeritus) (Professor Emeritus)

  3. Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel-Servet, Geneva, 1211, Switzerland

    Stylianos E. Antonarakis

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Walley, N.M., Nicoletti, P., Goldstein, D.B. (2010). Pharmacogenetics. In: Speicher, M.R., Motulsky, A.G., Antonarakis, S.E. (eds) Vogel and Motulsky's Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_24

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