Therapeutic area | Epidemiological and disease progression parameters | Clinical effectiveness data | Resource use and cost parameters | ||||||
---|---|---|---|---|---|---|---|---|---|
probability of ADRs | allele frequency | PPV/NPV | mortality rate of ADRs | efficacy of genetic testing | efficacy of drugs treatment | cost of testing | costs of alternative drugs | cost of hospitalization | |
Cardiovascular disease (n = 24) | |||||||||
 CYP2C19 -Clopidogrel | [31] | [35] | [36] | [38] | |||||
 CYP2C9 and VKORC1 -Warfarin | [19] | ||||||||
 pharmacogenetic testing-Statin | [39] | ||||||||
Gout (n = 8) | |||||||||
 HLA-B*58:01 -Allopurinol | [45] | [40] | [42] | [44] | |||||
HIV infection (n = 8) | |||||||||
 HLA-B*57:01 -Abacavir | [50] | [49] | |||||||
 CYP2B6 -Efavirenz | [55] | ||||||||
Autoimmune disease (n = 8) | |||||||||
 TPMT - Azathioprine | [57] | [62] | [63] | [60] | |||||
Epilepsy/neuropathic pain (n = 6) | |||||||||
 HLA-B*15:02 or HLA-A*31:01 -Carbamazepine | |||||||||
Cancer (n = 3) | |||||||||
 UGT1A1 -Irinotecan | [71] | [72] | |||||||
 DPYD -Fluoropyrimidine | [70] | ||||||||
Major depressive disorder (n = 1) | |||||||||
 CYP2D6 -Nortriptyline | [73] | [73] | |||||||
Hormone replacement therapy (n = 1) | |||||||||
 Factor V Leiden-Estrogen combined in oral contraceptives |