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Overview of pharmacogenomics

Kelan Tantisira, MD, MPH
Scott T Weiss, MD, MS
Section Editor
Benjamin A Raby, MD, MPH
Deputy Editors
Jennifer S Tirnauer, MD
Diane MF Savarese, MD


There is tremendous interindividual variability in the response to pharmacologic agents [1]. Plasma drug levels can vary more than 1000-fold when the same drug dose is administered to two individuals having approximately the same weight [2]. Drug-drug interactions, drug-food interactions, sex, age, disease state (ie, renal and hepatic function) and pregnancy can all influence variability in drug responses between patients. However, genetic factors are also likely to play a major role, since the individual response to a given pharmacologic agent is highly reproducible [3,4].

In theory, the identification of genetic factors that influence drug absorption, metabolism, and action at the receptor level should allow for individualized therapy; this could optimize drug efficacy and minimize toxicity profiles in a given population [1,5-8]. The potential for cost savings (through increased drug efficacy) and for decreased morbidity and mortality (through increased drug safety and fewer adverse drug reactions [ADRs]) is immense [9-13]. Although many ADRs are preventable and attributed in many cases to human error, others appear idiosyncratic, and potentially influenced by genetic factors. In one study of 2227 ADRs identified in a large teaching hospital, fewer than 50 percent had readily identified causes, and thus, might have been due to pharmacogenetic variability [14].

This topic provides a practical overview of the field of pharmacogenomics, including the historical context, the different ways in which pharmacogenomic differences can affect the response to drug therapy, an overview of US Food and Drug Administration (FDA) approved labeling of medications for which genetic testing is recommended, and the challenges that must be overcome before routine pharmacogenetic testing (genotyping) is fully integrated into mainstream clinical medicine. Throughout, examples of relevant pharmacogenetic associations will be cited.

While the details of all known specific drug-gene interactions are beyond the scope of this overview, current information regarding most of the known associations can be obtained through the National Institute of Health (NIH) Pharmacogenetics Research Network's PharmGKB: The Pharmacogenetics and the Pharmacogenomics Knowledge Base [15].


The following terminology is used to describe factors that contribute to the effect of a specific drug on a specific individual:

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Literature review current through: Nov 2017. | This topic last updated: Feb 08, 2017.
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