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|
|Some antidepressants, some antiepileptics (e.g., phenytoin, phenobarbital, carbamazepine, valproic acid)||Psychiatric, Epilepsy||CYP2D6, CYP2C9, CYP2C19, CYP1A2, SLC6A4,HTR2A/C|
|Some antipsychotics (e.g., haloperidol, mephobarbital, thioridazine)||Psychiatric||DRD3, CYP2D6, CYP2C19, CYP1A2|
|Methylphenidate||Attention deficit disorder||DRD4|
|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.