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. 2021 Oct 2;21:1042. doi: 10.1186/s12913-021-07025-8

Table 5.

Number of studies reporting parameters which could influence the cost-effectiveness results

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 [30, 33, 34] [31] [35] [36] [38]
CYP2C9 and VKORC1 -Warfarin [17, 21, 25] [16, 22, 26, 28, 29] [23, 24] [19]
 pharmacogenetic testing-Statin [39]
Gout (n = 8)
HLA-B*58:01 -Allopurinol [43, 44, 46] [45] [40] [42] [44] [40, 47]
HIV infection (n = 8)
HLA-B*57:01 -Abacavir [50] [49] [51, 52] [53, 54]
CYP2B6 -Efavirenz [55]
Autoimmune disease (n = 8)
TPMT - Azathioprine [57] [62] [63] [56, 58] [60]
Epilepsy/neuropathic pain (n = 6)
HLA-B*15:02 or HLA-A*31:01 -Carbamazepine [67, 68] [64, 69] [65, 67]
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

ADRs: Adverse Drug Reactions, PPV: Positive Predictive Value, NPV: Negative Predictive Value