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.
