Pharmacogenetic Testing

Pharmacogenetics is the study of how differences (genetic variants) in a person’s DNA affect the way they respond to medication. DNA is the genetic material in our cells that makes up the “blueprints” (known as genes) that define who we are. Everyone’s genetics are unique and contribute to the differences between people, such as whether certain medications might be broken down faster or slower. Because genes are the blueprints for different functions in the human body, looking at these “blueprints” with testing can help healthcare professionals predict how a person may tolerate a medication before it is taken. There are several methods for performing pharmacogenetic testing.

Benefiting Patient Populations: Pharmacogenetic testing can be beneficial for a variety of children, including those:

• Undergoing Mental Health Treatment: Children being treated for conditions like depression, anxiety, and bipolar disorder, where medication responses can vary widely based on genetic makeup.
• Receiving Cancer Treatment: Personalized medicine can significantly enhance treatment efficacy and reduce side effects for children undergoing chemotherapy or other cancer treatments.
• Who Are Scheduled to Have Transplants: Post-transplant medication management is crucial for preventing rejection and managing side effects, and pharmacogenetic testing can aid in finding the right medication dose earlier in treatment.
• Others requiring a medication influenced by pharmacogenetics including proton pump inhibitors like omeprazole, pain medications like tramadol, cholesterol medications like statins.

On site testing for patients with a cancer diagnosis  

Children’s Mercy is now performing pharmacogenetic testing in our clinical lab using DNA sequencing where your blueprints are “spell-checked.” Currently, two genes are reported. Testing for other genes is being developed. 

Pharmacogenetic testing of the TPMT and NUDT15 genes is available as part of in-house cancer next-generation sequencing (NGS) testing. These two genes are involved in breaking down thiopurine medications, commonly prescribed to kids with leukemia or inflammatory bowel diseases. Thiopurine medications include azathioprine, mercaptopurine, and thioguanine. This testing is performed to understand what dose of thiopurine medication the patient should be prescribed. Patients who have variants in these genes may need lower doses or alternative medications to avoid side effects.

On site testing patient without a cancer diagnosis

On-site pharmacogenetic testing for Children’s Mercy patients, which helps doctors choose the best medication and dose, is now available for other indications (transplant, gastroenterology, developmental & behavioral health). Testing on-site reduces the time it takes for the results to come back and provides custom reports faster. 

The Kiddose PGx test is a pharmacogenetic test for thirteen genes involved in breaking down many medications that are used to treat a variety of indications. Genes tested include several drug metabolizing enzymes (CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, NUDT15, TPMT), drug transporters (ABCG2 and SLCO1B1) as well as a gene encoding a drug target, VKORC1.

How Does Pharmacogenetic Testing Work?

1. Sample Collection: A DNA sample is collected, typically through a cheek swab or blood draw.

2. Genetic Analysis: The sample is analyzed to identify genetic variants that affect drug metabolism.

3. Result Interpretation: The results are reviewed by healthcare providers to make informed decisions about medication management.

What do pharmacogenetic results look like?

In pharmacogenetic testing, a classification system is used called “star alleles,” where each allele, a distinct version of a gene, is given a Star(*) name. Alleles can be defined by one or multiple genetic variants, and they may also share a variant or variants with other star alleles. Each star allele is a unique combination of variants. The *1 allele is reported when no variants are detected, indicating the reference allele with normal activity. Since one copy of each gene is inherited from each parent, we have two copies of each gene and therefore, two star alleles are included in the report.

In addition to the star alleles, the report will include an assessment of the enzyme or transporter's function. The functions are assigned into groups based on how well they work. These functional groupings are used to make dosing recommendations or alternative medication recommendations. The recommendations in the report are based on peer-reviewed, evidence-based, freely available guidelines from the Clinical Pharmacogenetics Implementation Consortium (CPIC).

How to Get Tested

Getting tested is a straightforward process. Here is what you need to do:

Consultation: Schedule a consultation with your healthcare provider to discuss if pharmacogenetic testing is right for you. Alternatively, you can contact the Goldiloks Clinic at CMH to discuss testing with one of our providers.

Sample Collection: Provide a DNA sample, typically through a simple cheek swab or blood draw.

Results: Receive your test results, which will be reviewed by your healthcare provider to tailor your treatment plan.

How to Order Pharmacogenetic (PGx) Testing at Children's Mercy

Pharmacogenetic (PGx) testing at Children's Mercy involves several steps to ensure patients can access this important service, whether through insurance coverage or alternative financial assistance. Below is a detailed guide on how to order PGx testing, including options for those with insurance coverage issues.

How can I find out more about pharmacogenetic testing?

For more information about pharmacogenetic testing, you can schedule an appointment at The GOLDILOKs® Clinic . You can have your doctor place a referral to our clinic or call the clinic at (816) 601-3360 to make a self-referral.