Introductionpharmacogenomics And Personalized Medicine

With the completion of the human genome project, one of the most tangible benefits is the emerging practice of pharmacogenomics as part of genomic medicine (1-11) and personalized medicine (12). While pharmacogenomics and pharmacogenetics are currently used interchangeably, pharmacogenetics is readily defined as the study of the genetic effect, for example, single-nucleotide polymorphism (SNP), on an individual's ability to metabolize a drug or compound, whereas pharmacogenomics is concerned with the whole genome effect on drug metabolism and efficacy. Pharmacogenomic biomarker, in combination with well-accepted biomarkers such as therapeutic drug monitoring and other functional testing, emerging proteomic biomarkers and possibly molecular imaging, enable personalized medicine to identify the right patient, with the right diagnosis/treatment, matching with the right drug, the right dose and at the right time, thus achieving clinical efficacy with no or minimal toxicity.

The emerging clinical applications of pharmacogenetics/pharmacogenomics may be directly verified by several US Food Drug Administration (FDA)-approved genotyping methodologies/platforms, the frequent inclusion of this topic in scientific and clinical meetings, and the upcoming availability of a 2007 pharmacogenomics survey program offered by the College of American Pathologists. All these positive developments, however, should be interpreted with some probing questions of the available evidence-based studies to support clinical pharmacogenomic applications. What is emerging is the reality that pharmacogenomics serves as an "adjunct" to other testings and practice. The term "convergence" is often mentioned in its use in combination with functional testing such as therapeutic drug management. Thus, this chapter would attempt to present pharmacogenomics, not only as an emerging, inter-dependent discipline, but as a complementing field in enhancing drug therapy. Following the introduction, a section is devoted to the pharmacogenomics space and the enabling drivers. Then, the principles of pharmacogenetics/pharmacogenomics are introduced, with update on the candidate pharmacogenomics testings. References are provided for the readers interested in the details of the clinical findings of the applications of pharmacogenomics and the technical details of pharmacogenomics protocol. Recent examples would include warfarin and irinotecan.

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