1. Health economic evaluation of whole exome
sequencing in complex paediatric neurology
Kirsten van Nimwegen, MSc
Janneke Grutters, Gert Jan van der Wilt
Department for Health Evidence, Radboud umc
ISPOR 2016, Vienna
kirsten.vannimwegen@radboudumc.nl
2.
3. Objective: To determine the cost-effectiveness of WES in clinical practice
Issues in health economic evaluation of genomics
WES = whole exome sequencing
4. WES
• Health care resource use
• WES trio
• 2 physician visits
• Diagnostic yield
100 CPN patients included
n = 98
-2
Standard pathway
• Health care resource use
• Prospective
• Diagnostic yield
Concordant?
8. “It is always too early, until suddenly it’s too late”
Martin Buxton, 1987
9. Take-home message
Health gain (QALYs) might not be a sufficient measure to sufficiently capture
the value of genomic diagnostics. More research is needed to determine
whether and how value beyond QALYs should be considered in health
economic evaluations of genomic technologies.
Editor's Notes
Parallel design Direct comparison diagnostic yield
Not possible to directly compare the costs
Why this design? WES already used in clinical practice, even if no HTA evidence!
