The 4th leading cause of death in the United States is adverse drug reactions (ADR). An adverse drug reaction is a harmful, unintended result caused by taking medication. Serious adverse drug events can result in hospitalization, permanent disability, and death. The good news is that with recent advances in DNA research, scientists are gaining more data about how genetics predetermine patients’ responses to certain medications. You can take control of your health by learning about your unique genetic makeup. My name is Sommer Pedersen, Doctor of Pharmacy, and I would like to introduce you to pharmacogenomics.

Keep reading to learn more about pharmacogenomic (PGx) testing and discover the role of this approach in the future of individualized medicine.

What Is Pharmacogenomics?

Pharmacogenomics, also known as pharmacogenetics, explores how your genetic makeup may impact your body’s reaction to various medications. This interdisciplinary field merges pharmacology, which studies the properties and action of drugs, and genomics, which explores the structure and function of genes.

Genes shape your traits, from eye color to blood type. They also dictate how your body processes and responds to medications. Some individuals may have little or no response to medications, while for others, the same medication may cause serious side effects. Pharmacogenomics strives to collect data about what gene variations are responsible for these differences in response to medications.

What Is PGx Testing?

A PGx test is a simple inner cheek swab to collect a DNA sample that is sent to a lab.  The lab looks for changes or variants in one or more genes that affect your response to certain medications.  This test can help determine whether a medication may be an effective treatment for you, what the best dose of a medication is for you, and whether you could have a serious side effect from a medication.

What Are the Benefits of PGx Testing?

Prescription drugs on a table.<br />

PGx testing makes trial-and-error prescribing a relic of the past. It empowers healthcare providers to make informed decisions, ensuring optimal medication choices before treatment begins. PGx testing is currently useful for medications that treat such conditions as mental health disorders, cancer, cardiovascular disease, and chronic and acute pain.

When it comes to mental health treatments, PGx testing offers a lifeline by expediting treatment decisions. For example, many anti-depressants take up to 6 weeks to reach the full effect. Experimenting with prescription treatments for several months during severe depression can be extremely distressing. PGx testing streamlines the process by pinpointing medications likely to yield positive outcomes.

PGx testing has been invaluable in my personal experience. My husband and I both obtained PGx tests when we launched our testing program at Pioneer Pharmacy. The results were eye-opening. Out of 21 genes tested, I discovered that I have 9 variants impacting medication. Breast cancer runs in my family, and the test revealed that a common treatment for breast cancer would be ineffective for me, highlighting the significance of individualized medicine.

Additionally, the test shed light on necessary adjustments to some of my medication dosages and elucidated why certain treatments had failed in the past. Armed with this insight, I now possess a roadmap for navigating my health journey, with clarity on which medications are safe and which to avoid.

Moreover, my husband’s PGx test unearthed a clotting disorder, which makes him 8 times more susceptible than average to developing blood clots in the legs (DVT) and lungs (PE). This information allows us to proactively mitigate risks by steering clear of medications that exacerbate clotting. He can also lower his risk during travel and after surgery with this knowledge. PGx testing has provided us with invaluable insights, peace of mind, and empowered decision-making for our long-term well-being.

What Are the Current Limitations of PGx Testing?

While pharmacogenomic (PGx) testing holds immense promise in tailoring medications to individual genetic profiles, it still has limitations. A PGx test does not predict responses to all medications. Currently, many doctors only offer PGx tests in very limited circumstances due to the history of limited gene panels and high costs.  Often testing was only offered after several bouts of trial-and-error prescribing such as the failure of 2 anti-depressants.

The future of Pharmacogenomics has arrived with improved panels that include many genes at an affordable price.  Pre-emptive testing is now possible for anyone who might have a genetic variant that affects mediation.  Given that 99% of us have at least 1 variant means that EVERYONE may benefit from a PGx test.

How to Interpret the Results of PGx Tests?

Pharmacists have been recognized as among the most qualified healthcare professionals for interpreting PGx test results due to their knowledge of pharmacokinetics and pharmacodynamics.  Pharmacists are medication experts and can help guide patients and their providers with recommendations on medication changes and dose adjustments.

By collaborating with your healthcare team, you can make informed decisions that optimize the effectiveness and safety of your medication regimen based on your genetic makeup.

How to Choose a Pharmacist for Interpreting Your PGx Test

When selecting a pharmacist to interpret your pharmacogenomic (PGx) test results, ensure they hold Professional Pharmacogenomics Certification. This certification signifies that the pharmacist has undergone specialized training and possesses the necessary expertise to accurately interpret genetic data and provide informed recommendations regarding medication management. 

Additionally, seek out pharmacists who demonstrate a commitment to staying current with advancements in pharmacogenomics and are actively engaged in continuing education in this field. By choosing a pharmacist with Professional Pharmacogenomics Certification, you can have confidence in their ability to provide comprehensive and personalized guidance tailored to your genetic profile.

Pre-emptive testing is now possible to prevent ineffective treatment, serious adverse reactions, and inappropriate dosing. My colleague Stephanie Dolence and I are both PGX-certified Doctors of Pharmacy. We can order your PGx test and guide you and your provider through the results to ensure you have the knowledge you need for prescription use now and in the future. Reach out to us at Pioneer Pharmacy LLC for more information.

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