Introduction

Pharmacogenomics is not a new concept, but it is becoming more well-known. We already know that each person is unique. Our uniqueness is readily visible in most; our eyes, hair, height, weight, and skin tone all differ. We also know that sometimes you and your parents or siblings have similar health conditions such as heart disease or diabetes, yet other families may never have any issues with those conditions. How our bodies respond to medications is also different for each individual. This is where pharmacogenomics comes in.

What is Pharmacogenomics?

Simply, it is the study of how your genes affect your personal response to medications. Just as we appear differently on the outside, we are also different on the inside. We also all process medications differently from one another. Pharmacogenomics testing helps you and your doctor better understand which medications may work best.

The words pharmacogenomics and pharmacogenetics are commonly used interchangeably. More specifically, pharmacogenomics looks at the entire genetic results to determine how multiple potential genes could interact or affect a single medication. Pharmacogenetics, however, studies the actual genetic causes of individual variations on drug response. When testing for a single medication a lab may often just use a pharmacogenetic test for a single gene, leading to increased knowledge of how that single medication may work. However, pharmacogenomics testing will look at other known genes that may also affect that same medication’s action. This testing also provides information on multiple medications and their effects at the same time with one inexpensive test.

How does Pharmacogenomics help?

Pharmacogenomics testing benefits you by:

  • Reducing side effects
  • Avoid medications found to not work as effectively in your body.
  • Example: Abacavir, an HIV medication, requires a person not to have a certain gene to drastically reduce likely major side effects.
  • Reducing time to benefit from therapy
  • Starting with the best medication first helps people feel better sooner.
  • Reducing choices in potential therapies
  • There are dozens of medications to treat multiple illnesses, it can be daunting to decide which will work best. Often patients must try multiple medications to find relief.
  • Improving dosing for better control
  • Example: A patient may require a higher or lower dose when using warfarin to help prevent excessive bleeding or clotting.
  • Example: Knowing a patient burns through their proton pump inhibitor (such as omeprazole, pantoprazole, or esomeprazole) too quickly can lead a physician to preemptively increase the dose to improve resolution of Helicobacter pylori infections, a bacterium that leads to stomach ulcers.
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What role does Pharmacogenomics play in depression treatment?

When a patient and provider decide that depression treatment requires medication, a patient trusts their provider to prescribe them a medication that will quickly provide satisfactory results. Unfortunately, the more likely case is that the provider writes a prescription for a medication that might help but also lets the patient know that they may have to try multiple different doses or medicines before they feel their best again. Most depression patients end up going through four or more different types of antidepressants before finding one that works well or before giving up on having relief. Before pharmacogenomics testing, this was the only way to find a medicine that would work. Now that this testing has become more available, trial and error can be reduced.

There are dozens of mental health medications affected by our genes. Knowing ahead of time which ones have the greatest potential for success can help both the patient and the provider. The goal has always been to give the right drug to the right patient at the right time. Now, achieving this goal is easier.

Case Study

A 55-year-old woman, LC, undergoing treatment for seasonal affective disorder, a type of depression that is worse when the days are shorter during the fall and winter. She had undergone a trial of at least five different antidepressants. One of them lead her to be excessively sleepy, another caused her to have nightmares, and the others tried seemed ineffective. She and her provider decided to have her undergo pharmacogenomics testing. The results showed that the previous medications chosen were not the best choices for her. LC started a final antidepressant, hoping for some relief. Several years later she is still doing well with no side effects and properly treated depression. Pharmacogenomics testing changed her life and saved her money.

What role does Pharmacogenomics play in ADHD treatment?

ADHD, attention deficit hyperactivity disorder, can affect all parts of a person’s life. These patients have an issue with their executive functioning. Instead of being able to focus on required tasks, they find themselves unable. These patients often reach for anything to help them, such as coffee, smoking, alcohol, or other drugs. It is important to treat these patients appropriately and as quickly as possible. These patients are more likely to forget appointments and are less likely to follow up if their medication is not working. It also takes them longer, as adults, to seek treatment.

Pharmacogenomics testing can help a provider choose the most appropriate therapy prior to starting treatment.

Case Study

A 50-year-old woman, DJ, was repeatedly asked by her children to be evaluated for ADHD. ADHD is commonly overlooked in younger women; therefore, many women are diagnosed at an older age. She had previously done pharmacogenomics testing and provided her results to her physician. Knowing how DJ’s body metabolized the ADHD medications ahead of time allowed the physician to choose a lower starting dose of the most appropriate therapy. DJ started the medication, experienced little to no side effects, and was able to experience both an improved work life and improved private life. One medication, the first time, for the right person works.

Benefits of Pharmacogenomics

Pharmacogenomics testing saves time and money, leads to better outcomes, and improves lives. When the patient and provider understand how a medication may potentially act, they can begin treatment with a medication more likely to work. Reducing the number of medications to choose from increases the chance that the therapy chosen will benefit the patient appropriately. Patients and providers alike only want to do what helps the most. Choosing pharmacogenomics testing as a tool in the decision-making process leads to better healthcare outcomes.

A person’s genes do not change. A pharmacogenomics test does not normally need repeating. This is a test that can be done once in a lifetime. What we know about genes and medications changes regularly, but our genes do not. The genes checked will always show the same results. However, consider the test you choose may not evaluate all the genes needed for a complete picture. In rare occasions, you may choose to do another pharmacogenomics test, but only if the genes evaluated are different.

ClarityX offers the Mindwell PGx test that examines your genetic variations and helps pinpoint the best medication for you. Click the Get Started button to find out more!

References:

  1. https://medlineplus.gov/genetics/understanding/genomicresearch/pharmacogenomics/
  2. https://www.pharmgkb.org/whatIsPharmacogenomics
  3. Dere, W. H., & Suto, T. S. (2009). The role of pharmacogenetics and pharmacogenomics in improving translational medicine. Clinical Cases in Mineral and Bone Metabolism, 6(1), 13-16. https://doi.org/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2781217/
  4. abacavir Contraindications and Cautions (epocrates.com)
  5. warfarin Contraindications and Cautions (epocrates.com)
  6. omeprazole Contraindications and Cautions (epocrates.com)