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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
Warfarin (see Warfarin Sensitivity Testing)
Excessive clotting disorder VKORC1 and CYP2C9
Thiopurines (azathioprine, mercaptopurine, and thioguanine) (see TPMT)
Autoimmune/Childhood leukemia TPMT
Clopidogrel (see Clopidogrel (CYP2C19 Genotyping))
Cardiovascular CYP2C19
Irinotecan Cancer UGT1A1
Abacavir HIV HLA-B*5701
Carbamazepine, phenytoin Epilepsy HLA-B*1502
Some antidepressants, some antiepileptics Psychiatric, Epilepsy CYP2D6,CYP2C9, CYP2C19, CYP1A2, SLC6A4,HTR2A/C

Is there anything else I should know?

For most medications, 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 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 counselor 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 Personalized Medicine Coalition website.

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