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Translational Genomics_Health economic evaluation
- 1. Health Economic Evaluation Whole exome sequencing in clinical practice K.J.M. van Nimwegen, MSc.
- 2. WES in clinical practice • Increased diagnostic yield • Currently: 6% • WES: ≥ 22% • Implement WES in clinical practice based on these data? • Implications of increased diagnostic yield? • Patients • Parents • Society • Health economic evaluation
- 3. Why do we need economic evaluation in health care? • Increased health care expenditure • Innovative medical technologies are a major cost driver • Every euro can only be spent once • How do we get the biggest health benefit for our money?
- 4. Health economic evaluation (I) Choice Comparator Medical intervention CostsA CostsB ConsequencesA ConsequencesB ΔCost? ΔEffect? Which alternative results in the highest value for money? • Comparative analysis of alternative courses of action in terms of costs and consequences
- 5. Health economic evaluation (II) ΔCost ΔEffect More costly, less effective Less costly, more effective More costly, more effective Less costly, less effective Willingness to pay ratio
- 6. Methods (I) Costs • 50 patients included • Retrospective study • Health care resource use for diagnostic purposes in the Radboud umc • Hospital visits • Inpatient and outpatient stays • Diagnostic tests • Associated costs
- 7. Results (I) Costs van Nimwegen, K.J.M. et al. The diagnostic pathway in complex paediatric neurology: A cost analysis. European Journal of Paediatric Neurology , 2014. 19(2): p. 233-9 • n = 50 • Mean costs of current diagnostic trajectory: €12,475 per patient • Genetic tests account for 43% of the costs (€5,321) 25% 7% 3% 43% 22% Healthcare resource costs Physician contacts Imaging tests Neurophysiologic tests Genetic tests Other diagnostic tests
- 8. Results (II) Impact on society ΔCost ΔEffect Whole exome sequencing Current trajectory WES Costs €12,475 €3,600 * Select population of complex cases Diagnostic yield 6% ≥ 22%
- 9. Impact on patients and their parents • HRQoL • Impact of receiving a diagnosis on health-related quality of life (HRQoL)? • Patients • Parents • Quantifying HRQoL • General HRQoL • 1 = perfect health • 0 = dead • Comparisons between disease areas General HRQoL Mental HRQoL Physical HRQoL
- 10. Methods (III) Burden of disease • 100 patients and their parents included • HRQoL is prospectively and quantitatively measured with the SF-12 • Physical HRQoL • Mental HRQoL • Before diagnosis • After diagnosis • SF-6D scores • General HRQoL
- 11. Results (III) HRQoL before diagnosis 0 10 20 30 40 50 60 Patient Parent Physical HRQoL Average physical HRQoL Mental HRQoL Average mental HRQoL * ** ** ** * Significant at p < 0.05 ** Significant at P < 0.01
- 12. Results (IV) HRQoL before diagnosis ** HRQoL Average HRQoL
- 13. Results (V) ΔCost ΔEffect Whole exome sequencing* * For this patient population
- 14. Conclusion • The current diagnostic trajectory is extensive, imposing a burden on the patients, their parents and, with an average cost of €12,475, on society at large. • The implementation of WES is expected to lower the costs of this diagnostic trajectory considerably, by substituting expensive low-yield conventional diagnostic tests. • An increase in diagnostic yield is also to be expected in this patient population. However, the effect of WES on HRQoL, quantitatively measured, is currently under research.
- 15. Questions