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How is pharmacogenomic testing different from “traditional” diagnostic testing?

How is pharmacogenomic testing different from “traditional” diagnostic testing?

When people hear of pharmacogenomic testing, they may think it’s the same as genetic testing used to diagnose disease. The GeneSight® test is a pharmacogenomic test, not a diagnostic test.

While both tests may analyze DNA, there are meaningful differences between the two:

  • Diagnostic testing looks at changes in a person’s DNA that are associated with a disease — such as types of breast cancer. A mutation may show proof of a disease or lack of the mutation may help rule out the disease.
  • Pharmacogenomic tests look at changes in a person’s DNA that can influence how they metabolize or respond to medications. This type of testing helps guide healthcare providers in choosing medications and dosing. However, it cannot identify which medications or doses will definitely work for a patient.

Who are Candidates for Each Test?

  • Diagnostic testing: People who are suspected of having — or at risk to develop — a specific genetic disease.
  • Pharmacogenomic testing: People being considered for medications, changes in medications, or dose adjustments to treat conditions, including those involving mental health.

Can GeneSight be Used for Diagnosis?

No, diagnostic testing for psychiatric illness is not currently possible. There is no single genetic marker that can reliably diagnose any particular psychiatric illness — multiple genes as well as environmental factors are involved.

While some genes have been connected to the risk of developing certain conditions, including schizophrenia and bipolar disorder1–3, these genes contribute only a small amount to the overall disease risk. As a result, testing for these markers is unlikely to provide meaningful information.

In contrast, pharmacogenomic testing can provide clinical benefit by helping healthcare providers select genetically optimal medications. This can help patients get on the right medication faster.


For more information on how the GeneSight test can help you and your physician, visit genesight.com, email us at medinfo@assurexhealth.com, or phone 855.891.9415.


  1. Jiang, H. et al. Evaluating the association between CACNA1C rs1006737 and schizophrenia risk: A meta-analysis. Asia-Pacific Psychiatry 7, 260–267 (2015).
  2. Arnedo, J. et al. Uncovering the Hidden Risk Architecture of the Schizophrenias: Confirmation in Three Independent Genome-Wide Association Studies. Am J Psychiatry 172, 139–153 (2015).
  3. Ferreira, M., O’Donovan, M. & Meng, Y. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat. … 40, 1056–1058 (2008).