Enjoy this collection of primary sources on pharmacogenomic (PGx) testing and its clinical applications.
| Tags | Key Statistics | Title | Author(s) | Publication Year | Link to Full PDF |
|---|---|---|---|---|---|
| Cost Savings
Patient Safety |
PGx-guided treatment was demonstrated to have 50% less hospital admissions, reduced emergency visits, and almost 13% less adverse drug reactions (ADRs) compared to the non-PGx approach.
The mean total cost of PGx-guided treatment was 50% less expensive than conventional therapy with clopidogrel. |
Economic evaluation of pharmacogenomic-guided antiplatelet treatment in Spanish patients suffering from acute coronary syndrome participating in the U-PGx PREPARE study | Koufaki et al. | 2023 | Koufaki et al. 2023 |
| Clinical Improvement
Patient Safety |
Patients with personalized drug treatment based on PGx testing had 30% lower occurrence of ADRs. | Patients with personalized drug treatment based on PGXA 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study | Swen et al. | 2023 | Swen et al. 2023 |
| Clinical Improvement
Pain |
600 patients treated with cannabis were genotyped. Genes ABCB1, TRPV1, and UGT2B7 were associated with decline in pain after treatment; patients having a favorable combination of all 3 genes showed the greatest reduction (i.e. the effect was polygenic). | The pharmacogenetics of cannabis in the treatment of chronic pain | Poli P et al. | 2022 | Poli et al. 2022 |
| Clinical Improvement
Clinical Relevance |
25% of prescribed medications do not result in the desired therapeutic outcome.
An estimated 88-99% of people have clinical actionable genetic variants. 71% of those who had PGx testing received at least 1 recommendation for current medications. Of the 165 medications with PGx guidance, 103 (62.4%) had no recommended changes based on individuals’ PGx test results and 62 (37.6%) had possible changes to optimize therapy. |
Analysis of a panel-based pharmacogenomics testing program among members of a commercial and Medicare client of a pharmacy benefits manager | Steinbach et al. | 2022 | Steinbach et al. 2022 |
| Clinical Relevance
Pain |
50% of chronic pain patients were prescribed a medication metabolized by CYP2C19 | Determining the potential clinical value of panel-based pharmacogenetic testing in patients with chronic pain or gastroesophageal reflux disease | Elchynski et al. | 2021 | Elchynski et al. 2021 |
| Clinical Relevance
Oncology |
Over 25% of new drug approvals between 2000 and 2020 have had PGx biomarker information in initially approved drug labels.
Almost 50% of all new FDA-approved drugs with PGx labeling were oncology medications. |
Pharmacogenomic Biomarkers in US FDA-Approved Drug Labels (2000-2020). | Kim, Ceccarelli, and Lu | 2021 | Kim, Ceccarelli, and Lu 2021 |
| Clinical Improvement
Pain |
PGx guided treatment shortened hospital stays by 2 days for patients with CYP2D6 reduced function. | Subanalysis of the CYP-GUIDES Trial: CYP2D6 Functional Stratification and Operational Timeline Selection | Ruano et al. | 2021 | Ruano et al. 2021 |
| Clinical Relevance
Clinical Improvement Pain |
Approximately 35% of all opioid prescriptions originate from surgeons.
A CYP2D6-guided treatment group had about 13% lower opioid consumption two weeks post-surgery than the usual care group |
A hybrid implementation-effectiveness randomized trial of CYP2D6-guided postoperative pain management | Thomas et al. | 2021 | Thomas et al. 2021 |
| Clinical Improvement
Clinical Relevance Cost Savings |
The US Food and Drug Administration has approved 385 drugs with genomic biomarker information in their labeling to assist in PGx-guided therapy.
Reactive PGx panel testing compared with usual care yields an ICER 1.7 times greater than preemptive PGx panel test. PGx testing should be done earlier to be more cost-effective. |
A model-based cost-effectiveness analysis of pharmacogenomic panel testing in cardiovascular disease management: preemptive, reactive, or none? | Zhu and Moriarty et al. | 2021 | Zhu and Moriarty et al. 2021 |
| Clinical Improvement
Patient Safety |
Patients who take genomically-congruent medications have increased medication adherence. | Pharmacogenomic-based decision support to predict adherence to medications | Christian et al. | 2020 | Christian et al. 2020 |
| Cost Savings | Genotype guided escalation (switching to prasugrel or ticagerlor for LOF alleles) was cost-effective at $42,365 per quality-adjusted life year when compared to universal clopidogrel or universal ticagrelor. | Cost-effectiveness of CYP2C19-guided antiplatelet therapy in patients with acute coronary syndrome and percutaneous coronary intervention informed by real-world data | Limdi et al. | 2020 | Limdi et al. 2020 |
| Cost-savings | Over 15 months, multigene testing was least costly and yielded more quality-adjusted life years compared to both single gene testing and no testing.
PGx testing for clopidogrel and tramadol (CYP2C19 & CYP2D6) in PCI patients saved $11,368 compared to no testing. |
Projected cost-effectiveness for 2 gene-drug pairs using a multigene panel for patients undergoing percutaneous coronary intervention | Hart et al. | 2019 | Hart et al. 2019 |
| Clinical Relevance
Patient Safety |
Risk for major adverse cardiac events (MACE) was significantly higher in patients with a loss-of-function allele prescribed clopidogrel versus alternative therapy [23.4 vs. 8.7 per 100 patient-years; adjusted hazard ratio (HR): 2.26]. | Multi-site investigation of outcomes with implementation of CYP2C19 genotype-guided antiplatelet therapy after percutaneous coronary intervention | Cavallari et al. | 2018 | Cavallari et al. 2018 |
| Clinical Improvement
Patient Safety |
PGx testing led to 40% fewer emergency department visits and 58% fewer hospitalizations. | Pharmacogenetic testing among patients with mood and anxiety disorders is associated with decreased utilization and cost: A propensity-score matched study | Perlis et al. | 2018 | Perlis et al. 2018 |
| Clinical Improvement
Patient Safety |
PGX testing reduced re-hospitalizations 60 days after discharge when compared to the untested group (relative risk 0.48). | Clinical impact of pharmacogenetic profiling with a clinical decision support tool in polypharmacy home health patients: A prospective pilot randomized controlled trial | Elliott et al. | 2017 | Elliott et al. 2017 |
| Cost Savings | Economic modeling showed a savings of $43,165 per life year and $53,680 per quality-adjusted life year. | Cost-effectiveness of one-time genetic testing to minimize lifetime adverse drug reactions | Alagoz et al. | 2016 | Alagoz et al. 2016 |
| Clinical Relevance
Patient Safety Cost Savings |
Hospitalization rate was 9.8% in the tested group vs. 16.1% in the untested group.
Emergency department visit rate was 4.4% in the tested group vs. 15.4% in the untested group. Potential cost savings estimated at $218 (mean) in the tested group. Provider majority (95%) considered PGx testing helpful. 46% of providers followed recommendations. |
The effect of pharmacogenetic profiling with a clinical decision support tool on healthcare resource utilization and estimated costs in the elderly exposed to polypharmacy | Brixner et al. | 2015 | Brixner et al. 2015 |