Pharmacogenetic testing

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Key points

  • The most common ways of obtaining a sample for pharmacogenetic (PGx) testing are a buccal (cheek) swab or a small blood sample.
  • The sample collected for PGx testing is used to search for specific genetic variations, which can impact how a person processes and responds to certain medications.
  • The same genetic result can be obtained, regardless of the way the sample was collected. 
  • The results from a genetics test reflect the unique genetic make-up of an individual, which remains unchanged throughout their life, making the results a lifelong resource for guiding medication use. 

How is PGx testing performed?

Pharmacogenetic (PGx) testing can be performed in many ways. The different methods used typically depend on the institution where you or your child are getting PGx testing done. 

The most common ways of obtaining a sample for PGx testing include: 

  • buccal (cheek) swabs
  • blood samples

No matter how the sample is collected, the results about how someone might respond to a medication will be the same.

What to expect before, during and after PGx testing

  1. Permission to take a sample from either you or your child will be obtained by the institution providing the testing.
  2. You will meet the PGx/health-care team conducting the test and have an opportunity to ask any questions you may have.
  3. A sample will be taken, usually via a cheek swab or a blood draw if necessary.
  4. The sample will be sent to a lab, where the PGx test is performed. The results usually take about a month to be processed.
  5. Once the results are received by your or your child’s health-care team, the team will explain what the results mean for you and/or your child. 

Results

The sample collected for PGx testing is used to look for specific genetic variation, which can impact how an individual processes and responds to certain medications. 

Typically, these results are provided in a report that you or your child’s health-care team can access. The report includes information about your or your child’s PGx genes  that can be used to help guide medication dosing or select an alternative medication. 

PGx test results reflect the unique genetic make-up of an individual, which remains unchanged throughout life,  making the results a lifelong resource for guiding medication use. While the test identifies variation in key genes, PGx research continues to evolve, and future tests may include additional genes not currently assessed.

The difference between pre-emptive and reactive PGx testing

Pre-emptive testing is done before a health-care provider prescribes a medication. The health-care team then has the patient’s PGx information available when they are prescribing a medication before an unexplained side effect or medication failure occurs. Pre-emptive testing tries to tailor the best medication to a patient before they use the “trial-and-error” approach. 

Reactive PGx testing is done to understand why certain medications have not been effective or why a side effect may have occurred.

Last updated: ستمبر 29th 2025