Authors' recommendations: 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.

Project Status: Completed

Year Published: 2016

URL for published report: https://lab.research.sickkids.ca/task/wp-content/uploads/sites/66/2018/06/2016-02.2-Microcosting-FULL-REPORT.pdf

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Canada

Organisation Name: Technology Assessment at SickKids

Contact Address: Program of Child Health Evaluative Sciences, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8 tel: (416) 813-8519 fax: (416) 813-5979

Contact Name: wendy.ungar@sickkids.ca

Contact Email: wendy.ungar@sickkids.ca

Copyright: The Hospital for Sick Children