Pharmacogenomics
From SNPedia
[PMID 28629370] Pharmacogenetic testing through the direct-to-consumer genetic testing company 23andMe.
| Drugs | Gene | Variant | SNP | Purpose of test | FDA/PharmGKB Guidance | Guidelines |
|---|---|---|---|---|---|---|
| Abacavir | HLA-B | *57:01 | rs2395029 | Hypersensitivity reactions | Genetic testing required CPIC, DPWG | CPIC, DPWG |
| Acetaldehyde | ALDH2 | *2 | rs671 | Toxicity and risk of oesophageal squamous cell carcinoma | No recommendation | |
| Clopidogrel (Plavix®) | CYP2C19 | *2 | rs4244285 | Efficacy and ADRs | Genetic testing recommendation | CPIC, DPWG |
| *3 | rs4986893 | |||||
| *4 | rs28399504 | |||||
| *8 | rs41291556 | |||||
| *17 | rs12248560 | |||||
| Fluorouracil (Adrucil®) | DPYD | *2A | rs3918290 | Toxicity and ADRs | Actionable PGx | CPIC, DPWG |
| Peginterferon alpha (PEG-IFN-alpha) & ribavirin (RBV) | 19q13 region | rs8099917 | Hepatitis C treatment failure | Actionable PGx | CPIC | |
| Phenytoin | CYP2C9 | *2 | rs1799853 | Sensitivity and Dosage adjustment | Actionable PGx | CPIC, DPWG |
| *3 | rs1057910 | |||||
| Proton Pump Inhibitor (PPI) | CYP2C19 | *2 | rs4244285 | Efficacy and Dosage adjustment | Informative PGx | DPWG |
| *3 | rs4986893 | |||||
| *4 | rs28399504 | |||||
| *8 | rs41291556 | |||||
| *17 | rs12248560 | |||||
| Pseudocholinesterase | BCHE | F1 | rs28933389 | ADR - extended paralysis and apnoea | Actionable PGx | |
| Deficiency | F2 | rs28933390 | ||||
| A | rs1799807 | |||||
| Simvastatin | SLCO1B1 | *5 | rs4149056 | ADR - Myopathy | No recommendation | CPIC |
| Sulfonylurea | CYP2C9 | *2 | rs1799853 | Efficacy and Dosage adjustment | No recommendation | DPWG |
| *3 | rs1057910 | |||||
| Thiopurine Methyltransferase | TPMT | c.460G > A, *3B | rs1800460 | Toxicity and ADRs | Genetic testing recommended | CPIC, DPWG |
| c.238G > C, *2 | rs1800462 | |||||
| c.719A > G, *3C | rs1142345 | |||||
| Warfarin | CYP2C9 | *2 | rs1799853 | Efficacy and Dosage adjustment | Actionable PGx | CPIC |
| *3 | rs1057910 |
