Are you a patient interested how genetic testing can help inform your healthcare decisions? Or maybe you’re a healthcare provider who wants to explore genetic testing to help you make more informed prescription decisions for your patients? Either way, you may have come across the term “pharmacogenomics” and wondered what it’s all about.
Simply put, pharmacogenomics (PGx) is the study of how DNA affects medication response. Pharmacogenomic testing (sometimes referred to as medication response testing) is genetic testing that evaluates how an individual’s DNA may affect their response to certain medications. Along with other clinical genetic tests, PGx falls under the umbrella of precision medicine—a branch of healthcare that aims to personalize care based on the patient’s DNA. Healthcare providers can use PGx test results to help determine which medications and dosages may work best for a patient, and patients can use them to stay informed and engaged in their healthcare decisions.
How does pharmacogenomic testing work?
The key to PGx is that it focuses on the individual. Each person’s DNA is unique; a drug therapy that works well for one person may be ineffective for another and may cause serious side effects for a third.
Like other genetic tests, a PGx test starts with taking an individual’s DNA sample — typically with a cheek swab. This can be done at the individual’s home or in a doctor’s office, clinic, or other healthcare facility. The sample is sent to a lab where the DNA is analyzed based on the gene variations known to affect medication response.
Once the lab processes the DNA sample, the test identifies variations in these genes that affect how individuals are likely to metabolize, or process, medications. The testing may uncover if an individual is over or under exposed to a drug, potentially causing side effects or reducing effectiveness of the treatment. For example, proton pump inhibitors (e.g., omeprazole, pantoprazole, and lansoprazole), which are used to treat common gastrointestinal conditions like heartburn and indigestion, may require significant dose increases in order to be effective in people with a specific gene variant that causes them to process the drug rapidly, leading to low exposure: CYP2C19*17/*17 genotype.
Why pharmacogenomic testing is important
Using PGx data to aid in prescription decisions may offer patients and providers help improving health outcomes by reducing trial and error in prescribing as well as unwanted side-effects.
Traditionally, prescribing has been based on trial and error, physical information (age, weight, gender, pregnancy, etc.), or historical information about what works for most patients. Providers can use PGx data to make prescribing decisions based on their patients’ DNA, along with these traditional measures. Consider the example of antidepressants: 50% of people do not respond favorably to their first prescription, according to a study in the American Journal of Psychiatry. Using a PGx test, providers may be able to better target which antidepressants are likely to be effective for individuals the first time.
PGx testing may also help providers and their patients avoid adverse drug reactions. Adverse drug reactions result in approximately $136 billion in healthcare spend annually and are the 4th leading cause of death in the U.S., according to the FDA. For example, Karen’s story details how an adverse drug reaction brought her to the ER. Ultimately, a PGx test uncovered that she wasn’t metabolizing her heart medication at a normal rate, causing it to build up in her system.
Putting pharmacogenomic testing into practice
The potential benefits of PGx testing are huge, making it a valuable tool to help patients and providers achieve positive health outcomes. And, since DNA doesn’t change with time, the results of a PGx test can be used for years to come, making it a cost-effective solution to supporting long-term health and prescription decisions. But, what is the best way to get started?
PGx for patients
If you’re interested in PGx testing, you have options. You can talk to your doctor about ordering a test for you — you may even be able to provide your DNA sample right at the doctor’s office.
At OneOme, we offer the RightMed® test, which covers hundreds of commonly-prescribed medications. Your doctor can order it for you, or you can purchase the test online (an independent provider will review your information and order the test, if clinically appropriate). When you purchase the test online, you even get a complimentary consult from a board-certified genetic counselor who will talk through your results. Once your results are ready, you can share them with your healthcare team, giving them valuable information to help with your prescription needs.
You can learn about the RightMed test, including viewing our drug list, a sample report, and more, by visiting our patient resources page.
PGx for providers
We have a variety of resources to help providers incorporate PGx testing into their practices, including comprehensive information on OneOme’s RightMed test. With the RightMed test, providers get access to their patient’s results (with customizable reporting options), the RightMed Advisor (an interactive clinical decision support tool), and complimentary consults with OneOme’s clinical pharmacists to help interpret the patient’s test results.
Learn more about how to get started with RightMed, by downloading our provider toolkit.