Pharmacogenomics
The Pharmacogenomics service at Cook Children's started in 2023 as a part of our Precision Medicine Program and is dedicated to making medication therapy decisions that are tailored to each patient. The “standard dose” approach in medicine considers many factors such as age, weight, medical conditions, allergies and diagnosis to select the right medication and determine the appropriate dosage. Despite patients sometimes sharing similar characteristics, their responses to medications can vary greatly: one patient may have side effects, while another sees no benefit. Pharmacogenomics—how a person's genes affect their response to medications—provides an additional layer of insight to help explain these differences.
We know that navigating medical tests and treatment options can feel overwhelming. That's why our team is here to answer your questions and offer guidance that fits your needs.
Meet the team
Anish Ray, M.D.
Heidi Trinkman, PharmD, BCOP
Danielle Miller, PharmD, BCPPS
Aly Anthony, MSN, RN, CPN
682-885-4007What is Pharmacogenomics?
Pharmacogenomics (PGx) examines how variations in a patient's genes influence their response to medications. Genes, which are segments of DNA inherited from our parents, provide the instructions that determine how our bodies look and function. Everyone has slightly different versions of the same genes, which is what makes us unique as individuals. A PGx test looks at these variations to understand how they might affect the way our body processes and responds to different drugs.
What can PGx testing tell me?
PGx testing helps tailor medication selection and dosing to you/your child's individual genetics, reducing the risk of side effects and may help find an effective treatment faster, minimizing the trial-and-error process. It can also clarify why your child might react differently to standard doses and provide families with information about future medications that may not be suitable. Sharing these results with other family members can help decide if testing is appropriate for them. This personalized approach aims to improve treatment, safety and effectiveness for your child.
Who is a good candidate for PGX testing?
PGx testing is available for all patients but may be especially helpful for patients who experience unexpected side effects, those who do not respond adequately to medications or when there is concern about potential adverse reactions to certain drugs.
What to expect
During the first visit, we gather you/your child’s medical history—especially regarding medication use and response—and discuss whether pharmacogenomic (PGx) testing is appropriate. Our physician and/or pharmacist will explain the testing process in detail, including what results to expect, potential limitations and any associated costs. If you decide to proceed, we’ll obtain consent and arrange for a blood sample to be collected or a cheek swab. The process and results can take around 3 to 4 weeks; we’ll be available to answer any questions you may have.
The follow-up visit is scheduled around 4 to 6 weeks after the initial appointment and can be conducted either in person or via video, based on your preference. During this visit, a PGx pharmacist will thoroughly review the test results and explain their implications for medication management. While additional visits are typically unnecessary, they may be arranged if your child or family require further support or guidance.
It's important to remember that gene differences are only one of several factors that impact medication response. Other factors such as age, weight, other medications being taken and existing health conditions also play a role. Your doctor will consider all of these elements, along with the pharmacogenomic test results, when making treatment decisions.
The test analyzes common gene variations that can influence how a person responds to medications. However, it does not detect rare gene differences, so it’s still possible to have uncommon genetic variations that may affect you or your child’s reaction to certain medicines.
Clinically relevant results are summarized in a note, which is available to you via your MyCookChildren's patient portal and can be shared with any healthcare providers you choose. These results are also included in your or your child's medical record within Cook Children's Health Care System, allowing providers within our system to access the information. In addition, certain findings are integrated into the medical record to alert providers and pharmacists when prescribing medications affected by specific genetic results. For providers outside of Cook Children's Health Care System, we encourage patients to share printed or electronic copies of these results to ensure coordinated care.
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Genes Included in PGX Health Panel |
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CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2D6 CYP3A4 CYP3A5 CYP4F2 |
BCHE CACNA1S RYR1 VKORC1 G6PD NAT2 MT-RNR1 SLCO1B1 ABCG2 ACYP2 |
TPMT NUDT15 CEP72 DPYD UGT1A1 UGT1A6 RARG SLC28A3 ABCB1 |
HLA-A*31:01 HLA-B*15:02 HLA-B*57:01 HLA-B*58:01 HLA-DQA1 HLA-DRB1 |
For more information on Pharmacogenomics, we recommend these resources: