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21st Century Pathology

The Role of Pharmacogenetic and Pharmacogenomic Testing in Personalized Medicine

Author(s): Jennifer Chousal, Raymond Suhandynata, Amadeo Pesce

Genetic alterations between individuals contribute to variations in drug response and susceptibility to adverse drug reactions. Testing for these alterations is accomplished via pharmacogenetic and pharmacogenomic molecular methods, with PCR-based, microarray, and next-generation sequencing platforms available in many clinical laboratories. The integration of this information into clinical practice offers the prospect of tailoring drug therapy to individual genetic profiles, improving patient outcomes while minimizing adverse events. Despite the promise, many challenges persist in the implementation and rapid evolvement of these methodologies. We present an overview of pharmacogenetic and pharmacogenomics methods, highlight specific examples of well-established pharmacogenetic associations, and summarize available resources for clinical testing recommendations.

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