Explained: What Is Pharmacogenetics?

June 18, 2019

Personalization. Every company wants to create unique experiences for its customers. For most industries, that requires digital data and user experience designers. For the medical community, it means assessing your specific genes to determine how you’re likely to respond to specific medications. This is known as pharmacogenetics (PGx).

This shift from a one-size-fits-all approach to health care to a patient-centric strategy is also known as pharmacogenomics, combining the science of pharmacology (how drugs work) and the science of genomics (the study of the human genome).

Your genetic makeup, or genotype, is your inherited DNA code. It serves as the building blocks of your body. These personal genomics, along with a clinical assessment of your current health and family history, compose the trifecta of information that doctors now use to drive individualized treatment decisions. This is at the heart of precision or personalized medicine.

Understanding Pharmacogenetics

Clinical genetic testing has long been used to determine health risk—the most familiar being prenatal genetic testing.

Various blood screenings and other diagnostic tests are used to determine whether your baby will be born with a neural tube or other birth defect, such as spina bifida; a chromosomal abnormality, such as trisomy 21 (Down syndrome); or an inherited disorder, such as sickle cell disease.

Even though pharmacogenetics was first established in the 1950s, only recently has it begun to be used to tailor drug treatments for certain cancers, cardiovascular disease, HIV/AIDS, and other medical conditions.

In addition, research has also shown that pharmacogenetics can be beneficial to those with mental health issues, particularly those with treatment-resistant depression or mood disorders.

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Pharmacogenetic information is also being used to develop new drugs aimed at patients with specific genetic profiles. As new research becomes available, the U.S. Food and Drug Administration continues to add pharmacogenomic biomarker labeling information, such as warnings and genotype-specific dosing, for numerous drugs.

Dozens of drugs commonly used in psychiatry, including some commonly used antidepressants and antipsychotics, include pharmacogenomic biomarker data in their product information. These genetic associations include warnings, precautions, and concomitant drug use and dosage recommendations.

The Effect of Pharmacogenetics on Your Health

Not everyone reacts to medications in the same way. You may start feeling frustrated if you don’t receive any benefit from the first-line treatments for your mood disorder, or if your symptoms worsen.

Unfortunately, this experience is common during mental health treatment. Up to half of all patients do not respond as desired (and some even experience adverse reactions) to the first psychiatric medication they’re prescribed, in part because of their genetic makeup.

“When medication registrations are done for FDA approval, those studies give us information for the average patient, such as how well a particular dose works on average in terms of side effects and efficacy,” says Roy Perlis, M.D., M.Sc., a Genomind advisory board member and professor of psychiatry at Harvard Medical School. “What the genetic testing can help determine is how someone’s ability to metabolize a particular drug relates to that average.”

Your genotype can affect your response to certain drugs. It can also influence whether you will experience negative side effects or adverse drug reactions. Using pharmacogenetics, doctors can narrow down which medications may be more or less likely to work better or be well tolerated for you, and at what dose. This may reduce the trial and error that often happens with treatment as usual.

What Does Pharmacogenetics Involve?

The pharmacogenetic test process for mental health treatment is simple and painless. Using a cheek swab, the Genomind Professional PGx looks at the key genes that may influence your clinician’s treatment choice and medication dosage for depression and other mental and mood disorders. It identifies your unique genetic markers that can indicate which treatments are more likely to work as intended, have no effect, or cause adverse effects.

 

To help clinicians determine medication treatment, Genomind’s pharmacogenetic testing analyzes 24 well-characterized genes. Genomind Professional PGx focuses on two primary mechanisms.

  • Pharmacokinetic effects. Certain genetic enzymes control how quickly your body, specifically your liver, breaks down the medications you take. If your body metabolizes a drug quickly, you might not receive any benefits, or you may need a higher dose. If your body metabolizes a drug slowly, you might experience side effects or possible toxicity. If you are a slow metabolizer, you may need a lower dose, or in some cases, may consider avoiding that drug altogether.

Understanding this metabolic effect is the main reason Jay Fawver, M.D., a psychiatrist with Parkview Physicians Group Mind-Body Medicine in Fort Wayne, Ind., recommends genetic testing to his patients. “Genomind analyzes six genes that code for enzymes that break down 90% of all medications,” he says. “By having an awareness of how people break down 90% of their medications, we can dose our medications accordingly.”

  • Pharmacodynamic effects. Certain genetic mutations can be used to help predict the effect a particular drug will have on your body. Genomind Professional PGx analyzes 24 pharmacodynamic genes that can be used to influence drug choice after reviewing your symptoms, past treatment responses, family history of treatment response, and your individual treatment goals.

Pharmacogenetic testing can’t yet independently determine which specific medication you should take or how well other medications will work for you, but it offers personalized guidance to your health-care provider.

How You Can Get Genomind Professional PGx

Any doctor or pharmacist can recommend that you receive pharmacogenetic testing, but only a licensed prescriber can order Genomind Professional PGx. You can have the cheek swab done at participating Genomind providers.

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The ordering clinician will receive an online patient report within three to five days of receiving your sample at the lab. You can authorize other doctors to receive your results as well.

You can also have Genomind Professional PGx testing done at select Acme, Albertsons, Jewel-Osco, and Sav-On pharmacies nationwide. Trained pharmacists at these locations will review your results with you and answer any questions.

Pharmacists can also help guide your doctors with medication decisions, especially those who may not be familiar with the research and language of pharmacogenetics, says Melissa Frontino, Pharm.D., a clinical pharmacist and residency coordinator for Acme Markets.

“Your specific genes don’t change over time. While the test will evolve and may expand the genes it tests, the results you get from this test will continue to aid your health decisions for years to come,” says Frontino. “The gene sequence tested tells us more information about how your body will process particular drugs. It gives us more specific parameters around what your body is doing to the drug or what a drug is doing to your body.”