Pharmacogenetics

Pharmacogenetics is the study of genetically determined variations in response to medication. This can include variations in how a drug is metabolized as well as how drugs interact with intended as well as unintended targets in the body. Pharmacogenetic testing can be useful in ensuring accurate drug dosing, avoiding adverse side effects, and selecting drugs. The U.S. Food and Drug Administration (FDA) mandates that many drugs reference pharmacogenetic testing in their labeling. Although family physicians should be aware that such labeling exists, the evidence of benefit of testing for these variations is not uniform across drugs. Currently, several pharmacogenetic tests are routinely used to guide treatment of oncology and infectious disease patients. Phar-macogenetic testing is likely relevant to some of the family physician's patients (Table 44-4). This number will grow as more pharmacogenetic tests become available.

Recent promising applications of pharmacogenomics measure variations relevant to drug responsiveness in cancer. Often, cancer drugs are toxic and expensive, so more individually targeted therapy (personalized medicine) based on the mutations present in a patient's tumor prove valuable over time. Examples include testing breast cancer tumors for overexpression of HER2 receptor to guide use of targeted therapies. Such testing is becoming a part of routine oncologic care. More recently, the American Society of Clinical Oncology (ASCO) has developed guidelines for testing for KRAS oncogene mutations to guide colorectal cancer treatment

(Allegra et al., 2009). More clinical applications of pharma-cogenetic testing relevant to cancer care are in the pipeline for clinical release.

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