Pharmacogenomic Testing

Pharmacogenomic
Testing

What is Pharmacogenomic Testing?

Pharmaco = Drugs/Medicine

Genomic = Your Unique DNA

Pharmacogenomics (also called PGx) is the study of how each person’s genes change the way their body responds to medicines. PGx testing answers the question: how does your body affect the drugs? Not all drugs are effective for all people. In fact, response rates for many drugs are only 50-75%. One of the factors that can help explain this variability is an individual patient’s DNA.

OVER

90%

of patients possess genetic variants that can change their medical management.

How does it work?

Your DNA is collected for the PGx test using a simple cheek swab in the office.

The laboratory analyzes the sample.

Results are returned to your doctor, usually within 5 to 10 days.

Schedule your Appointment Today

Contact your primary care provider or your Precision Medicine and Genetics Team.

Address:
1 Medical Village Drive
Edgewood, KY 41017

Phone:
859-301-GENE (4363)

Fax:
859-301-4924

Email:
askgenetics@stelizabeth.com

What information will I get?

PGx testing shows how your genes work with certain:

Chemotherapy drugs
Anti-nausea medications
Pain relievers
Psychiatric medications
Other drugs

What are the limitations?

PGx testing focuses only on certain medications with well-known risks. It will not assess your risk for medications not included on the list.

How much does it cost?

Patients with traditional Medicare or Medicaid pay $0
Patients with private insurance pay no more than $349
Most patients with private insurance will pay $99 or less

Learn more about your results

Use the chart to select common enzymes (proteins in a cell) found in the body and how different function levels may affect certain prescribed medications.

Enzyme Name

Function Level Group

Hidden

Function Level Group

CYP2C19

CYP2C19 is an enzyme responsible for breaking down (metabolizing) drugs in the body to either activate them or remove them. CYP2C19 breaks down many different medications, including clopidogrel (Plavix), voriconazole, and many medications for depression and anxiety. Some people may be able to process medications with CYP2C19 more quickly or less quickly than the average person. Depending on how well CYP2C19 works in your body, certain medications may be a better choice for you.

CYP2D6

The CYP2D6 gene is an important gene in our body that provides instructions for making a protein called CYP2D6. This protein plays a crucial role in how our body breaks down and processes many medications, including opioids, ondansetron (Zofran), tamoxifen, and many medications for depression and anxiety. Some people may have genetic variations in the CYP2D6 gene, which can influence the activity of the CYP2D6 protein, affecting how quickly or slowly our body breaks down these medications. This can lead to an increased risk of side effects from a medication or cause a medication to not work well for you. It's important to note that the impact of genetic variation in CYP2D6 can vary among individuals, and the response to medications is influenced by other factors as well, such as diet, smoking, other drug interactions, and individual differences in protein activity that aren’t explained by genetics.

SLCO1B1

SLCO1B1 is a drug transporter which carries medication to be broken down in the body. The SLCO1B1 transporter helps process many medications, including statins, a group of medications used to lower cholesterol levels. Depending on how well SLCO1B1 works in your body, you may need a lower dose for some medications or a different medication.

CYP2C9

CYP2C9 is an enzyme responsible for breaking down (metabolizing) drugs in the body to either activate or remove them. CYP2C9 breaks down many medications, including those for pain and epilepsy. Some people may be able to process medications with CYP2C9 less quickly than the average person. Depending on how well CYP2C9 works in your body, certain medications may be a better choice for you.

DPYD

DPYD is a gene that makes an enzyme called dihydropyrimidine dehydrogenase. This is an enzyme responsible for breaking down (metabolizing) drugs in the body to remove them. DPYD breaks down a class of drugs called fluoropyrimidines, (including fluorouracil and capecitabine) which are used to treat certain types of cancer. These medications are very toxic and individuals who are less able to metabolize them are at greater risk of potentially life-threatening side effects.

UGT1A1

UGT1A1 is a gene that makes an enzyme called uridine diphosphate glucuronosyltransferase. This is an enzyme responsible for breaking down (metabolizing) drugs in the boy to remove them. UGT1A1 is responsible for breaking down atazanavir for use in HIV infections and irinotecan for use in cancer. These medications can be toxic and individuals who are less able to metabolize them are at a greater risk of side effects.

CYP2B6

The CYP2B6 gene is an important gene in our body that provides instructions for making a protein called CYP2B6. This protein plays a crucial role in how our body breaks down and processes many medications, including efavirenz and sertraline. Some people may have genetic variations in the CYP2B6 gene, which can influence the activity of the CYP2B6 protein, affecting how quickly or slowly our body breaks down these medications. This can lead to an increased risk of side effects from a medication or cause a medication to not work well for you. It's important to note that the impact of genetic variation in CYP2B6 can vary among individuals, and the response to medications is influenced by other factors as well, such as diet, smoking, other drug interactions, and individual differences in protein activity that aren’t explained by genetics.

Ultrarapid Metabolizer

Ultrarapid metabolizer means you have increased CYP2B6 activity. Certain medications may be removed from the body too quickly and may not work for you. You may need to avoid certain medications and adjust the dosage of some medications.

Common Medications Affected by CYP2B6*
Medication	Usual Use	Possible outcome if standard doses are used
Efavirenz (Sustiva)	HIV Infection	Normal metabolism/typical response
Sertraline (Zoloft)	Depression/Anxiety	Normal metabolism/typical response

*This list does not include all medications affected by CYP2B6. Check with your doctor or pharmacist if you have any questions.

** Do not make any change(s) to any medications or stop taking any medication(s) without first speaking with provider**

Normal Metabolizer

Normal metabolizer means you have normal CYP2B6 activity. Medications processed by CYP2B6 may not need to be adjusted based on this genetic result.

Common Medications Affected by CYP2B6*
Medication	Usual Use	Possible outcome if standard doses are used
Efavirenz (Sustiva)	HIV Infection	Normal metabolism/typical response
Sertraline (Zoloft)	Depression/Anxiety	Normal metabolism/typical response

*This list does not include all medications affected by CYP2B6. Check with your doctor or pharmacist if you have any questions.

** Do not make any change(s) to any medications or stop taking any medication(s) without first speaking with provider**

Intermediate Metabolizer

Intermediate metabolizer means you have decreased CYP2B6 activity. This can cause certain medications to be removed from your body more slowly than normal. The dose of certain medications may need to be adjusted to avoid side effects.

Common Medications Affected by CYP2B6*
Medication	Usual Use	Possible outcome if standard doses are used
Efavirenz (Sustiva)	HIV Infection	Possible side effects
Sertraline (Zoloft)	Depression/Anxiety	Possible side effects

*This list does not include all medications affected by CYP2B6. Check with your doctor or pharmacist if you have any questions.

** Do not make any change(s) to any medications or stop taking any medication(s) without first speaking with provider**

Poor Metabolizer

Poor metabolizer means you have little or no CYP2B6 activity. This means that certain drugs processed by CYP2B6 will stay in your body for longer than normal and may cause side effects. Certain medications should be avoided, and the dosage of some medications may need to be adjusted.

Common Medications Affected by CYP2B6*
Medication	Usual Use	Possible outcome if standard doses are used
Efavirenz (Sustiva)	HIV Infection	Possible side effects
Sertraline (Zoloft)	Depression/Anxiety	Possible side effects

*This list does not include all medications affected by CYP2B6. Check with your doctor or pharmacist if you have any questions.

** Do not make any change(s) to any medications or stop taking any medication(s) without first speaking with provider**