Multinational cost-utility analysis of panel-based pharmacogenetics-guided treatment of patients enrolled in the U-PGx PREPARE study

Fragoulakis, Vasileios (author), Swen, Jesse J. (author), Koufaki, Margarita-Ioanna (author), Blagec, Kathrin (author), Blagus, Tanja (author), Böhringer, Stefan (author), Cambon-Thomsen, Anne (author), Cecchin, Erika (author), Cheung, Ka-Chun (author), Deneer, Vera H. (author), Dolžan, Vita (author)

Background: Pharmacogenetics (PGx) aims to revolutionize healthcare by individualizing drug doses and medication choices. However, clinical uptake will require positive evaluation evidence of both clinical utility and cost-effectiveness. We have recently demonstrated the clinical utility of this approach, using a panel-based PGx-guided treatment of patients from various indications recruited in seven countries (PREPARE study). Methods: Here, we provide economic evidence from a multinational cost-utility analysis of PGx-guided treatment in 6930 patients participating in the PREPARE study. The study was conducted from March 2017 to June 2020. We used the national healthcare system's perspective in each participating country, including only direct medical costs that budget holders cover. A Visual Analog Scale was used to measure utility and the quality of life was estimated by averaging the Visual Analog Scale scores of participants over four specific time points in the study, namely baseline visit (day 1), week 4, week 12, and 18 months from the baseline visit. Findings: Our analysis showed that the PGx-guided treatment is marginally cost-effective at the threshold of €11,000 QALYs. Cost drivers were hospitalization and ADRs costs, accounting for most of the resources used in both groups (46% and 37.5% in the PGx-guided group versus 49% and 48% in the control group, respectively), as a result of the average duration of hospitalization [1.51 days (95% CI: 1.23-1.82) for the PGx-guided group and 2.37 days (95% CI: 1.95-2.89) for the control group, resulting in a mean difference of 0.86 days (95% CI: 0.37-1.44). The difference in QALYs gained was 0.00178 (95% CI: 0.00176-0.00180). The ICER was €12,020 (95% CI: €10,957-€13,356) per QALY on average (SD: €116). When comparing cost and effectiveness of actionable PGx-guided versus actionable control patients, the total cost for the PGx-guided group was €491 (95% CI: €384-€613), versus €767 (95% CI: €583-€982) in the control group, with an incremental cost difference of €276 (95% CI: €62-€511), favoring the PGx-guided group. Also, the difference in effectiveness was 0.007 QALYs (95% CI: -0.021 to 0.033). Lastly, the difference in the mean total cost was estimated to be €21.4 (95% CI: €19.5-€23.8), while without considering the PGx test cost, indicative of a pre-emptive genetic testing approach, the PGx-guided treatment becomes a cost-saving option, with an estimated savings of approximately €103.6 (€124-€21.4) per patient. Interpretation: These data suggest that panel-based PGx testing is cost-effective, which, together with the clinically beneficial outcomes already demonstrated in the PREPARE study, provides additional evidence of the need to implement PGx into clinical practice.

• Language: English
• Keywords: pharmacogenetic-guided treatment, personalized medicine, preemptive testing, quality of life, cost-utility analysis, economic evaluation
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2025
• Number of pages: 11 str.
• Numbering: Vol. 91, art. 103686
• PID: 20.500.12556/RUL-181549
• UDC: 61:577.2
• ISSN on article: 2589-5370
• DOI: 10.1016/j.eclinm.2025.103686
• COBISS.SI-ID: 264552195
• Publication date in RUL: 10.04.2026

Record is a part of a journal

• Title: EClinicalMedicine
• Publisher: Elsevier
• ISSN: 2589-5370
• COBISS.SI-ID: 529859097

Licences

• License: CC BY-NC 4.0, Creative Commons Attribution-NonCommercial 4.0 International
• Link: http://creativecommons.org/licenses/by-nc/4.0/
• Description: A creative commons license that bans commercial use, but the users don’t have to license their derivative works on the same terms.

Secondary language

• Language: Slovenian
• Keywords: farmakogenetsko vodeno zdravljenje, personalizirana medicina, preventivno testiranje, kakovost življenja, analiza stroškov in koristnosti, ekonomska ocena

Projects

• Funder: EC - European Commission
• Funding programme: European Union’s Horizon 2020