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Value of Pharmacogenetic Testing Assessed with Real-World Drug Utilization and Genotype Data
Kaisa Litonius1,2,3, Noora Kulla4,5, Petra Falkenbach6
1Department of Clinical Pharmacology, University of Helsinki, Helsinki, Finland.
Clinical Pharmacology and Therapeutics
|October 4, 2024
Summary
Pharmacogenetic testing implementation is slow due to limited real-world evidence. Targeting pre-emptive pharmacogenetic panel testing to patient groups most likely to receive actionable drugs may be cost-effective for healthcare systems.
Area of Science:
- Pharmacogenomics
- Clinical Pharmacology
- Health Economics
Background:
- Pharmacogenetic testing adoption in clinical practice is hindered by a lack of real-world evidence on effective implementation strategies.
- Targeted testing approaches are needed to optimize the use of pharmacogenetics in patient care.
Purpose of the Study:
- To analyze real-world data on the prescription of pharmacogenetically actionable drugs in a large patient cohort.
- To investigate factors influencing the prescription of these drugs.
- To develop a cost-benefit model for pre-emptive pharmacogenetic panel testing.
Main Methods:
- Retrospective analysis of a nationwide cohort (1,425,000 patients) and a university hospital cohort (2,178 patients).
- Examination of drug purchases and prescriptions for pharmacogenetically actionable medications.
- Whole genome genotyping for a subset of university hospital patients (n=930).
- Development of a literature-based cost-benefit model for pre-emptive testing.
Main Results:
- 60.4% of patients received at least one pharmacogenetically actionable drug; common examples include ibuprofen and codeine.
- 98.8% of genotyped patients had actionable genotypes, with 23.3% having actionable gene-drug pairs.
- Patients with musculoskeletal or cardiovascular diseases were more likely to receive actionable drugs.
- A cost-benefit model suggested potential savings of €17.49 per patient over 2 years for untargeted pre-emptive testing, excluding test costs.
Conclusions:
- A significant proportion of patients receive pharmacogenetically actionable drugs, and most carry actionable genotypes.
- Targeting pre-emptive pharmacogenetic testing to specific patient groups, particularly those with high-risk conditions, may be a reasonable and potentially cost-effective strategy.
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