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Table 2 Benefit of pharmacogenetic testing on clinical outcome

From: Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good

Study Findings Benefit References
2019, Seven of University of Florida Health primary care clinics, 375 enrolled patients Within the same subgroup of IM/PMs prescribed tramadol or codeine at baseline, CYP2D6-guided group experienced a 30% reduction in composite pain intensity compared with the usual care group. Improved efficacy [25]
2019, Meta-analysis of 5 randomized controlled trials (RCT), 1737 participants across five RCTs Pharmacogenetic-guided therapy 1.71 times more likely to achieve symptoms remission relative to individuals who received usual treatment. Improved efficacy [26]
2018, 17 hospitals in the Netherlands, 1103 evaluable patients Genotype-guided dosing compared with historical cohort reduced the relative risk of severe toxicity for DPYD*2A carriers, was safe in the single c.1679 T > G carrier, and decreased the toxicity risk in c.2846A > T carriers, although the risk was still higher for c.2846A > T carriers than wild-type patients. Improved safety [27]
2017, The randomized clinical Genetic Informatics Trial (GIFT), 1650 randomized patients The numbers of individual events in the genotype-guided group vs the clinically guided group were 2 vs 8 for major bleeding (RR, 0.24; 95% CI, 0.05–1.15), 56 vs 77 for INR of 4 or greater (RR, 0.71; 95% CI, 0.51–0.99), and 33 vs 38 for venous thromboembolism (RR, 0.85; 95% CI, 0.54–1.34). Genotype-guided warfarin dosing, compared with clinically guided dosing, reduced the combined risk of major bleeding. Improved safety [28]
2016, AltheaDx, San Diego Applying PGx guided recommendations across the patient population resulted in the elimination and/or replacement of one to three drugs and an estimated annual saving of US$621 per patient. Reduced cost [29]
2016, Netherlands Cancer Institute, Slotervaart Hospital and Canisius Wilhelmina Hospital, 2038 patients The risk of fluoropyrimidine-induced toxicity was significantly reduced from 73% (95% CI, 58–85%) in historical controls (n = 48) to 28% (95% CI, 10–53%) by genotype-guided dosing (P < .001); drug-induced death was reduced from 10% to 0%. Total treatment cost per patient was lower for screening (€2772 [$3767]) than for non-screening (€2817 [$3828]). Improved safety, reduced cost [30]
2015,2015, The Department of Neurology, University Hospital Center Zagreb, 206 patients Of patients in the genotype-guided group (CYP2C9, VKORC1), 97% did not have any major complications compared with the control group.
Estimated total cost per patient had a nonsignificant difference between genotype-guided and control group. However, the mean cost of bleeding was estimated to have significant difference at €119.32 (95% CI: €41.95–202.69) in favor of the PGx group.
Improved safety, reduced cost [31]
2015, AssureRx Health, Mayo Clinic, 258 patients Gene-guided treatment raised the odds of clinical response by 2.3-fold, the guided group had a 53% greater improvement in depressive symptoms. Improved efficacy [32]
2015, College of Pharmacy, University of Utah, 1025 patients Pre-emptive screening with a panel-based approach resulted in a significant reduction in hospitalizations (9.8% vs 16.1%, P = 0.027) and patient visits to the emergency department (4.4% vs 15.4%, P = 0.0002). Reduced hospitalization, reduced cost [33]
2015, Assurex Health, Mason, Prospectively generated cohort, Initially 2168 cases and 10,880 controls Patients receiving PGx testing saved $1035.60 in total medication costs over 1 year compared to the usual care cohort (P = 0.007). PGx testing improved adherence compared to standard of care. Reduced cost, improved adherence [34]
2014, Vanderbilt University, PREDICT study, 10,000 patients Comparison of pre-emptive testing and reactive genotyping revealed that 14,656 tests would have been generated with point of care genotyping—the pre-emptive approach saves genotyping test costs by reducing the number of ordered tests by 60%. Reduced cost [21]
2013, The EU-PACT trial, 455 patients In the genotype-guided group, the mean percentage of time in therapeutic range was 7.0 percentage points higher than in the control group. Significantly lower incidence of excessive anticoagulation was detected in the genotype-guided group than in the control group. Fewer adjustments in the dose of warfarin were made in the genotype-guided group than in the control group. Improved efficacy, improved safety [35]
2012, Vanderbilt University Medical Center, 52,942 patients Within a 5-year window, 64.8% of individuals were exposed to at least one medication with a PGx association. Three hundred eighty-three adverse events (95% CI, 212–552) among 52,942 individuals could be prevented with an effective preemptive genotyping program. Improved safety [36]
2012, Mayo Clinic, 44 patients On average, a 7.2% reduction in depressive symptoms for study subjects in the unguided treatment group was detected, compared with a 31.2% reduction in overall score for subjects in the guided group (P = 0.002). Improved safety [37]
2010, Medco Health Solutions, Mayo Clinic, 3584 patients CYP2C9 and VKORC1 genotyping of warfarin recipients resulted in 31% fewer hospitalizations overall and a 43% lower risk of hospitalization for bleeding or thromboembolism. Reduced hospitalization, reduced cost [38]