Pharmacogenetic Testing (PGx)
- The American Medical Association advocates that Physicians become familiar with genetic variations that may affect patients’ drug metabolism and be able to recognize when a drug metabolism test should be used to inform prescribing.
- Cytochrome P450 enzymes are responsible for approximately 70% of drug metabolism in the body, mainly the CYP2C9, CYP2C19, and CYP2D6 genes.
- Greater than 250 prescription medications contain Pharmacogenetics information in their FDA approved labels.
- Pharmacogenetic DNA testing for medication test results will help guide a Physician to choose a drug that will work for their patient, avoid new medicine or drugs that could cause unwanted side effects, and start the patient at the most effective dose.
What are the benefits of Pharmacogenetic Testing?
- Remove the need for the “Trial and Error” method.
- Drastically reduce the number of hours required to find the correct medication for each patient.
- Save patients much needed money by eliminating the co-pays of unnecessary medications.
- Prevent patients from experiencing unwanted adverse events.
- Decrease the yearly number of patient hospitalizations as a result of drug-gene interactions.
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Please indicate the quantity of test kits you would like to receive, then proceed to the next page to confirm your shipping and contact information. Please note: complimentary sample kits are only available to licensed medical professionals.
What is Pharmacogenetic Testing?
Pharmacogenetics is the study of how genes impact the body’s response to specific medicines. Genes are parts of DNA passed down from your parents that carry information that determines traits such as eye color and height.
Genes can impact how effective and safe a drug or medication can be for you. Because of your genetics, the same medication at the same dose will affect different people in different ways. For example, one person might have some negative side effects to a medication, while others have no side effects. Pharmacogenetic testing looks at your specific genes to help you discover which kinds of medications and doses are right for you.
How Does Pharmacogenetic Testing Work?
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 Benefits
Pharmacogenetic testing provides a number of different benefits, including:
- More powerful medications. Drug companies can create drugs based on the proteins, enzymes, and RNA molecules related to genes and diseases, leading to improved drug discovery and therapy that is better targeted to specific diseases.
- Better and safer drugs. Doctors can analyze a patient’s genetic profile, prescribe the best drug therapy the first time around, speed up recovery time, and make the recovery process safer for patients.
- More accurate drug dosages. This testing also allows for more accurate methods of determining the right doses for drugs. Dosages are currently based on weight and age in most cases, but this type of testing will help replace the current system with dosages based on genetics, as well as how the body processes the medicine and the amount of time it takes to metabolize it.
- Advanced screening for disease. Knowing your genetic code can enable you to make any necessary environmental and lifestyle changes at an early age to reduce the chance and severity of a genetic disease in the future.
What will a TruGenX Pharmacogenetic Test Reveal?
What is pharmacogenetic testing? 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.
Poor Metabolizer
Reduced Intermediate Metabolizer
Intermediate Metabolizer
Normal (Extensive) Metabolizer
Rapid Metabolizer
Ultra-Rapid Metabolizer
Individual Genes Tested
Recommendation on starting does and, if necessary, possible alternative medications
Medications in the green column can be prescribed according to standard care regimens or the patient’s risk for the indicated condition is not increased.
Medications in the yellow column indicate that guidelines exist for adjusting dosage, increased vigilance, or the patient has a moderate risk of the indicated condition.
Medications in the red column have potentially reduced efficacy, increased toxicity, or the patient has an increased risk for the indicated condition.
Medication Summary
| Cardiac | |||
| Therapeutic Class | Standard Precautions | Caution / Info | Change recommended |
| Antiarrhythmics | Flecainide Propafenone | ||
| Anticoagulants | Acenocoumarol | Warfarin | |
| Anticonvulsants | Phenytoin | ||
| Antiplatelet Agents | Clopidogrel Prasugrel Ticagrelor |
Recommendations on starting dose and, if necessary, possible alternative medications
| Drug | Finding | Recommendation | Concern | Evidence |
| Antiplatelet Agents | ||||
| Clopidogrel FDA Drug Label: Actionable PGx | CYP2C19: Ultra-rapid metabolizer | Individuals with ultrarapid metabolizer status may benefit from the elevated plasma concentration of the active compound when taking a standard dose. They may also be at increased risk of bleeding due to elevated plasma concentrations of the active compound. No additional therapeutic recommendations. | Efficacy |
Pocket Reference Card
A TruGenX Pharmacogenetics test report will reveal how well the genes of a patient will metabolize medications. The patient will be given a pocket reference card to share with each one of their Doctors.
TruGenX currently tests 16 genes to study and determine how they will affect a medication. Providers can order a Comprehensive Panel, one of the three Subspecialty Panels or create a Custom Panel to meet the needs of the patient.
| Phamacogenetic Test Panels | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Comprehensive Panel | APOE | COMT | CYP1A2 | CYP2C19 | CYP2C9 | CYP2D6 | CYP3A4 | CYP3A5 | DPYD | HTR2A | HTR2C | MTHFR | VKORC1 | Factor II | Factor V | SLC01B1 |
| Cardiac Panel | APOE | CYP2C19 | CYP2C9 | CYP2D6 | CYP3A4 | CYP3A5 | MTHFR | VKORC1 | Factor II | Factor V | SLC01B1 | |||||
| Pysch Panel | COMT | CYP1A2 | CYP2B6 | CYP2C19 | CYP2C9 | CYP2D6 | CYP3A4 | CYP3A5 | DPYD | HTR2A | HTR2C | MTHFR | ||||
| Pain Panel | COMT | CYP1A2 | CYP2B6 | CYP2C19 | CYP2C9 | CYP2D6 | CYP3A4 | CYP3A5 | ||||||||
| Custom Panel Choose 1 or several | APOE | COMT | CYP1A2 | CYP2C19 | CYP2C9 | CYP2D6 | CYP3A4 | CYP3A5 | DPYD | HTR2A | HTR2C | MTHFR | VKORC1 | Factor II | Factor V | SLC01B1 |
It is important to know when to order a Pharmacogenetic test for a patient. There are many reasons why the results of this test will help each patient. This table describes the approved indications to follow when ordering a Pharmacogenetic test.
When To Order Pharmacogenetic Testing
| Medical Necessity | |
| Polypharmacy | Patient is currently prescribed 4 or more medications |
| Adverse Reaction | Patient has had to visit a Doctor's office or an Emergency Room as a result of an unwanted reaction to a medication |
| Resistance or Lack of Efficacy | Patient has not received relief from his or her current prescription plan |
| Personal or Family History | Patient has personal or family history of unexpected outcomes from certain medications |
| Targeted Drug Therapy | Patient is a candidate for a targeted drug therapy associated with a specific gene biomarker or gene mutation |
| FDA Cleared Drug with Genetic Guidance | The "Indications and Usage" section of the prescribing information stating the identification of the gene biomarker as being clinically necessary prior to initiating therapy |
| Received less than 5 days of Warfarin Therapy | The results of the Pharmacogenetic test will directly impact clinical decision-making of the initial dose |
| Clinical Utilization | |
| Guidance in choosing the most effective medication | Genetic inheritance affects an individual's response to a medication. It is possible to predict therapeutic failures or dangerous adverse reactions through Pharmacogenetic testing. |
| Guidance in choosing the safest medication | Drug toxicity will vary by each patient. Other factors need to be considered such as age, liver function, nutrition, smoking and associated diseases. |
| Guidance in choosing the initial or titrating dose | The "trial and error" method could lead to fatal consequences and may extend the time to optimum dose. Pharmacogenetic testing will help to choose the right test the first time. |
| Guidance in minimizing the risk of polypharmacy | Each additional medication that is added to a patient's treatment plan increases the risk of adverse events. Knowing how a patient will metabolize the prescribed medication will drastically reduce the risk. |
| Guidance in managing the patient's thrombotic risk | Substantial findings in the Prescribing Information state that the existence of genetic variations in both the CYP2C9 and VKORC1 will alter the dose response to Warfarin and Clopidogrel |
Sample Report
Request Test Kits
Please indicate the quantity of test kits you would like to receive, then proceed to the next page to confirm your shipping and contact information. Please note: complimentary sample kits are only available to licensed medical professionals.
