NOV 12, 2015 10:30 AM PST

Pharmacogenetics in the Clinical Laboratory: Opportunities and Challenges

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  • Clinical Chemistry Fellow, Department of Pathology, Johns Hopkins University School of Medicine
      Allison Chambliss, PhD is a Clinical Chemistry Fellow in the Department of Pathology at the Johns Hopkins University School of Medicine. She received her B.S. in Chemical Engineering from Virginia Tech and her PhD in Chemical & Biomolecular Engineering from Johns Hopkins University. Allison's current clinical research interests include development of rapid, targeted pharmacogenetics assays and mass spectrometry methods. Her current training areas include operation of the clinical laboratory, quality control and assurance, laboratory management, analytical methodologies, and test interferences.


    Appropriate dosing of pharmaceuticals is critical to prevent sub-therapeutic efficacy or the occurrence of adverse events. However, genetic variability may significantly influence an individual’s response to a therapeutic agent. Wide genetic variability has been observed in a number of drug-metabolizing enzymes, which are responsible for the activation or inactivation of numerous drug classes. Targeted identification of specific genetic variants may assist in providing the optimal drug at the optimal dose to the correct patient. With the aid of case studies, this presentation will describe representative genetic variants that are known to influence the metabolism of commonly-prescribed medications. The presentation will also explore the current analytical platforms and challenges associated with implementing pharmacogenetic testing in a clinical laboratory environment.

    Learning Objectives:

    1. Describe the role of genetics in the metabolism of commonly-prescribed medications.
    2. Relate genotypes of frequent drug-metabolizing variants to drug activity.
    3. Discuss the advantages and disadvantages of current approaches to pharmacogenetic testing.

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