Translational Genomics_Health economic evaluation
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Transcript of Translational Genomics_Health economic evaluation
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Health Economic EvaluationWhole exome sequencing in clinical practice
K.J.M. van Nimwegen, MSc.
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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
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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?
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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
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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
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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
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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 contactsImaging testsNeurophysiologic testsGenetic testsOther diagnostic tests
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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%
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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
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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
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Results (III) HRQoL before diagnosis
Patient Parent0
10
20
30
40
50
60
Physical HRQoLAverage physical HRQoLMental HRQoLAverage mental HRQoL
***
** **
* Significant at p < 0.05** Significant at P < 0.01
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Results (IV) HRQoL before diagnosis
**
HRQoLAverage HRQoL
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Results (V) ΔCost
ΔEffect
?
?Whole exome sequencing*
* For this patient population
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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.
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Questions