Pharmacogenetic Tests

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The Pharmacogenetic Tests

There are currently a variety of pharmacogenetic tests that can be ordered on a clinical basis. Some tests may only be applicable to specific ethnic groups. The following are some drugs for which pharmacogenetic tests are available:

Drug Associated Diseases/Conditions Gene(s) Tested
Excessive clotting  VKORC1 and CYP2C9
Thiopurines (azathioprine, mercaptopurine, and thioguanine) (see TPMT)
Autoimmune/Childhood leukaemia, inflammatory bowel disease TPMT

Is there anything else I should know?

For most drugs, pharmacogenetic tests are generally not widely ordered for a variety of reasons. However, they may be indicated when the medication of interest has a narrow therapeutic range and/or is associated with a high rate of adverse events. Pharmacogenetic testing is in its early stages in the UK, with the exception of TPMT testing which has an established role in treatment of leukaemia and inflammatory bowel disease.

Pharmacogenetic tests are intended to provide the doctor and patient with additional information when selecting drug treatments and dosages. For a better understanding, patients may want to consult with a genetic counsellor prior to and after having a pharmacogenetic test performed. Genetic counseling and informed consent are recommended for all genetic testing.

To learn more about the role of pharmacogenetics in personalized medicine, visit the Royal Society’s Personalized Medicine website. 

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