Pharmacogenetic testing, also known as pharmacogenomics testing, is typically performed on saliva or blood at pharmacogenetic testing labs. For a blood test, a healthcare professional will use a small needle to take a blood sample from a vein in your arm. After they insert the needle, they will collect a small amount of blood into a test tube or vial. You might feel a slight sting when the needle goes in or out, but the whole process tends to take less than five minutes. For a saliva test, you can ask your healthcare provider for directions on how to provide a sample.
Pharmacogenetic testing, also known as PGx testing, is primarily concerned with variations in enzymes that affect drug metabolism. Cytochrome P450 enzymes, notably CYP2C9, CYP2C19, and CYP2D6 are accountable for approximately 70% of drug metabolism in the body. Within the human body lies the cytochrome P450 enzymes, which are key components of both the synthesis and metabolism of molecules within a cell. These enzymes are particularly needed when breaking down the active ingredients of most medications.
Polymorphisms, or the presence of a genetic variation, within the gene of a human, may affect the function of the cytochrome P450 enzymes. These variations are broken down into six categories based on their expected effect on how a patient will metabolize a drug.