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Pharmacogenetic Tests

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The Pharmacogenetic Tests

Pharmacogenetic testing is available for a relatively limited number of drugs. Some tests may only be applicable to specific ethnic groups. The following are examples of 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 (e.g., phenytoin, phenobarbital, carbamazepine, valproic acid) Psychiatric, Epilepsy CYP2D6, CYP2C9, CYP2C19, CYP1A2, SLC6A4,HTR2A/C
Tamoxifen Cancer CYP2D6
Some antipsychotics (e.g., haloperidol, mephobarbital, thioridazine) Psychiatric DRD3, CYP2D6, CYP2C19, CYP1A2
Methylphenidate Attention deficit disorder DRD4
Opioids Pain management OPRM1
5-fluorouracil Cancer DPYD variants and TYMS gene mutations testing
Selective serotonin reuptake inhibitors (SSRIs) Depression 5-HTT
Some statins (e.g., simvastatin) High cholesterol SLCO1B1

Is there anything else I should know?

Pharmacogenetic testing is available for a relatively limited number of medications. Pharmacogenetics tests are generally not widely used and not all insurers will cover their cost. Individuals should consult with their healthcare practitioners about these issues.

Pharmacogenetic tests are intended to provide the healthcare practitioner 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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