Translational Genomics_Health economic evaluation
-
Upload
kirsten-van-nimwegen -
Category
Documents
-
view
78 -
download
1
Transcript of Translational Genomics_Health economic evaluation
Health Economic EvaluationWhole exome sequencing in clinical practice
K.J.M. van Nimwegen, MSc.
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
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?
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
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
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
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
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%
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
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
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
Results (IV) HRQoL before diagnosis
**
HRQoLAverage HRQoL
Results (V) ΔCost
ΔEffect
?
?Whole exome sequencing*
* For this patient population
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.
Questions