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Pharmacogenetic Testing

Clinical Chemistry

  1. Wendell W. Weber1,
  2. Maureen T. Cronin2

Published Online: 15 SEP 2006

DOI: 10.1002/9780470027318.a0537

Encyclopedia of Analytical Chemistry

Encyclopedia of Analytical Chemistry

How to Cite

Weber, W. W. and Cronin, M. T. 2006. Pharmacogenetic Testing. Encyclopedia of Analytical Chemistry. .

Author Information

  1. 1

    University of Michigan, Ann Arbor, USA

  2. 2

    ACLARA Biosciences, Mountain View, USA

Publication History

  1. Published Online: 15 SEP 2006


Drugs are administered to patients with the intention of achieving a planned therapeutic response. Yet drug prescription is a medical art because of the wide variation in individual responses to standard drug doses. In the 1960s, the field of pharmacogenetics emerged from the dedicated work of a small group of investigators who began to enrich the discipline of pharmacology by integrating it with human genetics. Pharmacogenetics provides the experimental framework to understand variability in human reactions to drugs and other exogenous substances as a function of intrinsic human genetic variability. The maturation of the human genome initiative has provided a wealth of primary genetic information and functional genomic data to fuel the understanding of genetic polymorphism and its functional consequences. Today, the field of pharmacogenetics is a well-integrated, worldwide network engaging a vast community of academic and industrial scientists.

One hallmark of pharmacogenetics studies is the large amount of genetic data that must be accumulated and integrated for high-resolution drug-response genotyping and subsequent phenotype profiling. This need for highly parallel genetic analysis has, in turn, fueled a demand for technical innovation to provide the tools necessary for its execution. The response has been a flurry of inventions in microfluidics and nanotechnology, some of which are scaled down versions of existing technologies, such as capillary electrophoresis and mass spectrometry, and some are completely new inventions. Outstanding in this technical revolution are DNA microarrays. Array technology has emerged as the most versatile and widely applied tool to support pharmacogenetics, for several reasons: arrays have the largest and most scalable capacity for parallel analysis, their inherent flexibility permits them to be used as independent analysis tools or as integrated components of more complex microfluidic systems and, finally, a wide variety of methods can be used to design and fabricate them. Pharmacogenetics is experiencing a period of rapid growth and definition. Arrays have proven themselves to be a technology capable of responding to the growing and changing needs of the current research environment and are likely to be equally important as pharmacogenetics moves into the clinical arena.