What is pharmacogenetics testing?

Pharmacogenetics testing is a simple one-time test that reads some of your genes. Your genes are responsible for more than how you look. Pharmacogenetics testing looks specifically at the genes that are responsible for how your body processes medicines.

When you have a pharmacogenetics test done you only have to do a simple cheek swab. The swab is rubbed along the insides of your cheeks, put in a container, and then sent to the lab. That swab now contains a small sample of your DNA, deoxyribonucleic acid. Your DNA is made up of multiple genes and some of these genes are looked at to determine your pharmacogenetics profile.

Your pharmacogenetics profile will provide insight into how you process medications. When you know which medications may work better, there is a better probability of success with fewer side effects. Your results will separate the medicines into groups. One group will be medications that are negatively affected by your genetics and may need to be avoided. The second group includes medicines that may not work as well or may have more side effects than other medications but may still be helpful if there are no alternatives. The third group will include medications that will work in your body as expected from clinical trials. This third group is the better group to choose from but still comes with all the normal precautions. No medication is truly completely safe.

What are the benefits of pharmacogenomics?

Pharmacogenomics, or how our body’s genes affect the medications we take, helps us to predict which medicine may work best for us. Each of us has a unique genetic profile. Pharmacogenomics looks at that profile to improve patient safety and adherence, and medicine tolerability and potential benefit.

There are now multiple medications that treat the same diseases. If for instance, you have depression, and your provider has determined that medication may help. Your provider now must choose from over fifty mental health medications to find one that helps you. This is a daunting number of choices. Usually, providers have a few favorites because these have been used by other patients or because the medicines have been around for a long time. The goal is to help you feel better with as little time, money, and side effects as possible.

Given the results of a pharmacogenetics test, the provider can now know ahead of time which medicines may work best. Now you could feel better more quickly with fewer side effects. Pharmacogenetics testing removes much of the trial and error that has historically been required to help patients feel better. Aside from improved outcomes for you, pharmacogenetics testing saves both time and money.

How can pharmacogenetics improve drug therapy?

Often, drug therapy is required to treat symptoms or conditions. According to the CDC, 50% of people used at least one prescription in the past 30 days; 25% used three or more, and 13% used five or more prescriptions. These statistics continue to rise. Knowing which drugs work best with fewer side effects helps reduce the number of medications a person takes daily. The goal is to have patients on the absolute fewest medicines needed to treat their condition. Pharmacogenetics helps accomplish this goal.

The three most frequently prescribed medication classes include pain relievers, cholesterol medications, and antidepressants. All three classes, as well as many others, are highly affected by your pharmacogenetics profile. Knowing your pharmacogenetics can help your provider choose which of these medications will likely work the best with the least side effects. When patients feel better, they are more likely to continue taking their medications as prescribed. This improved adherence improves outcomes, reduces hospitalizations, and reduces costs.

When giving a patient the best potential medicine first, there are fewer doctor visits, fewer medical bills, and fewer prescriptions to fill. The patient/provider relationship also improves. Improved provider relationships lead to patients adhering not only to their medications better but also to the nutritional and lifestyle advice their providers give. Empowering patients in their own healthcare improves outcomes.

What is the difference between pharmacogenetics and pharmacogenomics?

Pharmacogenetics

Pharmacogenetics is how a medication is affected by a single gene. Research has shown that multiple genes affect medication absorption, concentration, and excretion. When we find this gene in the patient, the patient and provider can better predict whether that medication could be less effective or cause more side effects. Knowing this, using a better alternative reduces the risk of side effects and improves the outcome for the patient.

Pharmacogenomics

Pharmacogenomics includes the information gained from pharmacogenetics but also considers how other genes may affect the medication less directly. For instance, if there is a gene that changes the function of the gut, liver, or kidneys, that gene may also affect how that medication is absorbed or removed from the body. Knowing the bigger picture helps predict potential issues better.

Example:

Adderall for ADHD. The CYP2D6 gene can either increase or decrease the metabolism of amphetamine, one of the active ingredients in Adderall. CYP2D6 activity is then a predictor of effectiveness and dosages needed for Adderall. However, since Adderall affects dopamine concentrations in the body, the genes in the body that affect dopamine can have an indirect effect on ADHD outcomes. Pharmacogenomics takes the current knowledge of multiple genes to help determine best practices for a given medicine.

As more research becomes available, pharmacogenomics becomes more valuable. Often pharmacokinetics and pharmacogenomics are used interchangeably when describing the testing. When used this way, both are using pharmacogenomic considerations.

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Is pharmacogenetics accurate?

Pharmacogenetics is a tool for improving patient care. Your pharmacogenetics profile helps your prescriber predict what may work best in your body. There are multiple other tools your provider will use, including blood tests and medical history. Your pharmacogenetics profile is a place to start. This test helps reduce the number of medications to choose from and allows your provider to help you avoid unnecessary side effects.

Just because a medication is on the list of potentially helpful medicines does not mean that the medication will be the best one for you. You may experience an allergy or other normal side effects with that medication. What is known is that you will not be worse off trying it based on your pharmacogenetics. If a medication that may have increased side effects is required, knowing ahead of time can help. The provider can then watch more carefully for side effects and treat those more quickly to improve tolerability.

We are learning more every day. The list of medications affected by our genes is growing as research continues. If a medication is not listed, it is merely because we do not know enough about that medicine to determine if it is affected by our genetic makeup. In addition, other genes and more research may lead to different recommendations in the future. Pharmacogenetics testing, however, is something that needs to be done only once under most circumstances.

ClarityX offers pharmacogenomics testing that can help you and your provider choose medications that work best specifically in your body. If you are considering medication therapy or are wondering if your current medications are the ones that work best for you then this test may help.

https://www.cdc.gov/nchs/fastats/drug-use-therapeutic.htm

https://www.ncbi.nlm.nih.gov/books/NBK144022/

https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/011522s043lbl.pdf

https://www.cdc.gov/genomics/disease/pharma.htm#:~:text=Pharmacogenomics%20can%20improve%20your%20health,will%20work%20best%20for%20you.