This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database.
Tsiplova K, Zur RM, Ungar WJ. A microcosting and cost-consequence analysis of genomic testing strategies in autism spectrum disorder. Toronto, ON: Technology Assessment at SickKids (TASK). 2016
This study is the first to estimate the cost of clinical exome and genome sequencing using a bottom-up microcosting approach, The WGS using older technology (HiSeq 2500) was the most expensive test, costing almost three times as much as WES and almost eight time as much as CMA. The new technology using the HiSeq X platform reduced the cost of WGS test by about 40%. Overall, supplies, followed by equipment and labour, constituted the largest proportion of the total cost for all three tests. A cost-consequence analysis revealed a cost of over $30000 per additional patient with a pathologic variant if CMA were to be replaced by CMA+WES or by MGS. Additional research is required to assess the impact of CGES on the pathway of care for children with ASD and to measure ultimate improvements in health outcomes as a result of testing. This study provides comprehensive cost data for use in future economic evaluations of clinical genome and exome sequencing in ASD and allows for a costing model that can be easily adapted to other pediatric patient populations.
Subject indexing assigned by CRD
Autism Spectrum Disorder; Costs and Cost Analysis; Genomics; Humans
Country of organisation
An English language summary is available.
Address for correspondence
The Hospital for Sick Children, Peter Gilgan Centre for Research and Learning, 686 Bay Street, Toronto, Ontario, Canada M5G 0A4 Email: email@example.com
Date abstract record published