More than 90% of the US population has at least one genetic variation that affects response to medication.* The same medication dose may be effective for one person, have no effect for another and may cause harm to a third person.
*Source: National Center for Biotechnology Information
What is Pharmacogenomic (PGx) testing?
Pharmacogenomics combines the science of how drugs work (pharmacology) with the science of the human genome (genomics). It is a well-established, evidence-based decision-support tool that helps providers reduce adverse outcomes from commonly prescribed medications leading to fewer complications and increased medication efficacy. This test is valid for your patient’s entire life.
What does the test report?
- The most safe and effective medications for your patient
- The appropriate medication dosage levels for optimal efficacy
- Medications to avoid because they may be ineffective, harmful (causing Adverse Drug Reactions) or potentially life threatening for the individual, even at a normal recommended dosage
- Drug-Drug Interactions show how drugs will interact with each other and whether these interactions will reduce drug efficacy or cause harmful side effects
What does the test entail?
Our specimen collection process is quick and easy. Using the enclosed buccal swabs, rub the inside of your patient’s cheek, place the swabs and signed forms into the enclosed prepaid return envelope, then ship it to our lab for processing. See additional instructions in the test kit.
What happens after I administer the test?
You will receive a copy of your patient’s results approximately 7-10 days after you send the collected specimen back to our CLIA Certified lab using the enclosed prepaid shipping envelope (delays may occur if the requisition form is not completely filled out and signed). Results are provided in an easy to read format that shows which medications are safe, which may require dosage adjustments and which may prove harmful to your patient. If a list of currently prescribed medications is provided, the report will also include information pertaining to drug-drug interactions.
Which genes are tested?
- CYP2D6: Metabolizes 25% of all drugs including tamoxifen, antidepressants, antipsychotics, betablockers, opioids
- CYP2C9: Metabolizes 10% of all drugs including warfarin, phenytoin, NSAIDs, sulfonylureas
- CYP2C19: Metabolizes 10-15% of all drugs including clopidogrel, citalopram, diazepam, proton pump inhibitors
- CYP1A2: Metabolizes many medications including clozapine, olanzapine, theophylline, and caffeine
- CYP3A4/3A5: Metabolizes 50% of medications including many statins, benzodiazepines, antibiotics, antipsychotics
- SLC6A4: Is a serotonin transporter; associated with efficacy of SSRI antidepressants
- OPRM1: Is the Mu opioid receptor; associated with the analgesic efficacy of morphine, hydromorphone, oxymorphone, and other opioid agonists
- VKORC1: Is the enzyme inhibited by warfarin; associated with sensitivity and dose requirement
- SLC01B1: Is a protein that transports statins into the liver; associated with myopathy risk
- Factor II: Is prothrombin; variant associated with increased risk of thrombosis
- Factor V (Leiden): Is clotting factor V; variant indicates nearly 10-fold increased thrombotic risk, and suggests avoidance of estrogen-based oral contraceptives for females
- MTHFR: Is an enzyme involved in folate metabolism; variant is a risk factor for atherosclerotic heart disease, venous thrombosis, and low L-methylfolate levels
- COMT: Is a brain enzyme that degrades dopamine and norepinephrine; associated with stimulant therapy efficacy
What areas of medicine benefit from PGx testing?
- Antimicrobials, antivirals
- Cardiology: statins, channel blockers
- Pain management: opioids, anti-inflammatories
- Psychiatry: benzodiazepines, antidepressants, antipsychotics and other psychotropics
Who currently uses PGx testing?
Pharmacogenomics is already a part of routine clinical care in many academic centers (e.g. Mayo Clinic, St. Jude’s Children’s Hospital, University of Florida, Vanderbilt University, Moffitt Cancer Center, etc.) and community health systems. The FDA has updated the label on more than 250 medications to include pharmacogenetic information and this list continues to grow.