Pharmacogenetics

Emerging science helping healthcare providers optimize clinical outcomes

Pharmacogenetics is a relatively new field that combines traditional pharmaceutical sciences such as biochemistry and pharmacokinetics with an understanding of common genetic variations to predict what medications at what doses will be most effective for individuals based on their genotypes.

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Each drug has its own unique metabolic profile; a specific set of enzymes responsible for catalyzing the absorption, distribution, metabolism, and excretion (ADME) of a medication. Numerous genetic variants potentially affect how much of these enzymes an individual can produce, and how efficient the enzymes will function.

Single nucleotide polymorphisms or SNPs (pronounced “snips”) are the most common type of genetic variation. Each SNP represents a change at a specific DNA base pair. A variety of SNPs influence how fast a patient will metabolize or break down certain medications. Having too little of an enzyme may decrease enzyme activity, which can cause a drug to build up in a patient’s system and result in adverse drug reactions (ADRs). Producing too much of a particular enzyme may increase enzyme activity, causing the patient’s body to excrete a medication too quickly, which may prevent the drug from ever reaching optimal therapeutic levels.