Communicating with patients about pharmacogenomics


Summary: Pharmacogenomic testing can identify patients that carry variants and provide information that is valuable for many treatment decisions. Communication with patients before and after testing can help them to understand their results and how their results impact care.

By Clinical Education at JAX | April 2024

Pretest communication

Prior to testing, it is important for patients to understand both the benefits and limitations of the test results. Suggested elements to include in discussions include:


  • General description of genetic testing and the role of genes and variation in drug response.
  • The purpose of testing, which is to identify genetic variants that affect how the body breaks down a medication. It may be helpful to note that pharmacogenomic testing does not diagnose or assess risk for disease.
  • The possible outcomes of testing, which include medication changes based on results that indicate drug sensitivity or resistance.
  • Relevance of testing for future medication prescribing.
  • Limitations of testing, notably that genetics is just one factor of many to determine medication therapy for an individual.

Results communication

Following pharmacogenomic testing, providers should be sure patients understand the significance of the results for their treatment. Communicating pharmacogenomic results can be challenging for several reasons including:

  • Test outcomes (genetic variants), interpretation (predicted clinical effect), and related terminology can be unfamiliar and complex.
  • Patients may have limited knowledge about genetics, the role of genes in their health, and the use of genetic information for treatment guidance.
  • Results can have distinct impacts for specific medications. For example, a reduced dose of one medication could be recommended, while the dose of another medication could be increased based on the same test result.

Patients with clinically significant pharmacogenomic results, especially those at risk of adverse drug response, should also be aware that their family members may also carry the same genetic variants, which increases their risk as well.

Tips to promote patient comprehension of results include:

  • Description of the actual test result with a focus more on the clinical effect instead of genetic variants. Explore the meaning of the result for the patient.
  • Significance, options, or changes for drug therapy based on the test results, including the impact on efficacy and risk of an adverse response related to a prescribed medication.
  • Re-emphasis of the relevance of test results for future treatments.

The avoidance of stigmatizing terms such as “mutant” or “abnormal” when describing results is encouraged. Neutral terms about the function of the gene are preferable, for example, “faster than expected” and “slower than expected.” Also keep in mind that labels that are often used, such as “poor metabolizer,” may be misinterpreted.

Having prepared text and patient education materials related to pharmacogenomic testing readily available may help aid discussions. Providing a printed results summary for patients can facilitate the sharing of results with future prescribers and the avoidance of repeat testing.

Learn More

Exploring Pharmacogenomic Testing (CME|CNE). Learn about the benefits and limitations of pharmacogenomic testing, how to determine whether pharmacogenomic testing is appropriate for the patient and the application of test results to patient management.

All information in this resource is provided for educational purposes only .