PharmacogenomicsINTRODUCTION

As molecular and biochemical sciences unveil the molecular etiology of disease, the focus of drug development shifts from global treatment modalities to more individualized therapeutics based on genomic data. To health care providers, this represents a paradigm shift in patient care. Are health care providers equipped to apply the knowledge provided by pharmacogenomics in clinical practice? Are they prepared to explain pharmacogenomic data and its implications to their patients?

GENETICS

Genetic data are not new to clinical practice. For years, clinicians have used pharmacogenetics, the precursor to pharmacogenomics, in patient care; trisomy 21 Down’s syndrome, sex-linked disorders, and autosomal dominant or recessive disorders have been identified and treated based on genetic data. Patients with these disorders display gross chromosomal changes or single nucleotide alterations that confer disease.
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SCOPE AND DEFINITION

How does pharmacogenomics differ from pharmaco-genetics?

Pharmacogenomics reveals the heritable differences in multiple genes that influence an individual’s response to medication. Pharmacogenomics encompasses pharmacogenetics and expands the concept further by evaluating not just one genetic change but many genetic changes. Whereas a drug target might not change as a result of genetic differences, people’s responses to a medication might vary and often present as adverse drug events (ADEs). This is evidenced by the fact that patients experience diseases and ADEs despite preventive measures and treatment.

For example, statin-induced myopathy, myocardial infarctions (MIs) that occur in aspirin-treated patients, uncontrolled high blood pressure that does not improve despite antihyper-tensive therapy, and blood clots in patients receiving anti-coagulation therapy represent untoward medical events that are harmful to patients and costly to all involved—and that exemplify the predictive power of pharmacogenomics. One cannot ignore the impact of environmental factors in drug response; however, pharmacogenomics represents the application of a patient’s genetic data in the selection of drug therapy to improve the efficacy and safety of treatment.

Pharmacogenomics encompasses a variety of molecular biology tools. Single nucleotide polymorphisms (SNPs) occur in approximately every 1,000 to 3,000 bases in DNA, whether in a gene’s coding, noncoding, or regulatory regions. SNPs do not always change the actual phenotype, but they can alter the response of the end product (protein) to the environment; hence, SNP genotyping is one of several molecular biology tools available for use in clinical medicine.