Microcosting of whole genome sequencing (WGS) of trios in heterogeneous pediatric cardiac population

Jegathisawaran J, Tsiplova K, Hayeems R, Ungar W
Record ID 32018000757
Original Title: Microcosting of whole genome sequencing (WGS) of trios in heterogeneous pediatric cardiac population
Authors' objectives: The objective of this study was to estimate costs per trio for WGS, including coding and non-coding regions, for a targeted patient population consisting of children with heterogeneous cardiac diseases including cardiomyopathies (CMP), congenital heart defects (CHD) and inherited cardiac arrhythmias enrolled in the cardiac genome clinic (CGC) at The Hospital for Sick Children (SickKids), Toronto, Canada from an institutional payer perspective over five years.
Authors' results and conclusions: The cost per trio in Year 1 was $8053 (95% confidence interval [CI]: 7699, 8558) for WGS-trio (HiSeq X™). Reagent supply costs accounted for the largest proportion of costs (50%) followed by bioinformatics (25%). The total institutional program cost to offer WGS for CGC diagnosis over five years was $5.63 million (95% CI: 5.38, 5.98) based on 144 CGC trios per year. Varying the inputs in DSAs resulted in a minimal difference of under 5% in the overall costs per WGS-trio. The study provides comprehensive cost data for use in future economic evaluations of genome sequencing in pediatric cardiac patients. It allows for a costing model that can be easily updated as technology evolves and adapted to other pediatric patient populations. Additional analyses are required to assess the clinical and economic impact of the WGS in this population.
Authors' methods: Using a bottom-up microcosting approach, the opportunity cost per trio excluding mark-ups, fees and charges for WGS-trios on the Illumina HiSeq X™ platform for pediatric patients with multiple cardiac diseases was estimated. This was done from an institutional payer perspective based on the diagnostic laboratory practices at SickKids. The cost per trio was determined for each year of a five-year program. Total program costs to service the CGC pediatric population were also estimated over five years. A probabilistic analysis (PA) was conducted to incorporate parameter uncertainty in the model. Three one-way deterministic sensitivity analyses (DSA) were conducted to examine the effects of changing the inputs for the overhead cost, the total volume of WGS tests in the institution, and excluding pharmacogenomics while other inputs remained the same.
Project Status: Completed
Year Published: 2020
English language abstract: An English language summary is available
Publication Type: Other
Country: Canada
Province: Ontario
MeSH Terms
  • Child
  • Child, Preschool
  • Genetic Heterogeneity
  • Heart Diseases
  • Cardiomyopathies
  • Heart Defects, Congenital
  • Arrhythmias, Cardiac
  • Whole Genome Sequencing
  • Costs and Cost Analysis
  • Health Care Costs
  • microcosting
  • whole genome sequencing
  • heterogeneous cardiac diseases
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: Technology Assessment Unit of the Hospital for Sick Children (TASK)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.