Chunmei Li1, Stacey Vandersluis2, Corinne Holubowich2, Wendy J Ungar3,4, Elaine S Goh5, Kym M Boycott6, Nancy Sikich2, Irfan Dhalla2,7, Vivian Ng2. 1. Ontario Health (Quality), Toronto, ON, Canada. chunmei.li@ontariohealth.ca. 2. Ontario Health (Quality), Toronto, ON, Canada. 3. Program of Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada. 4. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada. 5. Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada. 6. Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada. 7. Unity Health Toronto, Toronto, ON, Canada.
Abstract
PURPOSE: Genetic testing is routine practice for individuals with unexplained developmental disabilities and multiple congenital anomalies. However, current testing pathways can be costly and time consuming, and the diagnostic yield low. Genome-wide sequencing, including exome sequencing (ES) and genome sequencing (GS), can improve diagnosis, but at a higher cost. This study aimed to assess the cost-effectiveness of genome-wide sequencing in Ontario, Canada. METHODS: A cost-effectiveness analysis was conducted using a discrete event simulation from a public payer perspective. Six strategies involving ES or GS were compared. Outcomes reported were direct medical costs, number of molecular diagnoses, number of positive findings, and number of active treatment changes. RESULTS: If ES was used as a second-tier test (after the current first-tier, chromosomal microarray, fails to provide a diagnosis), it would be less costly and more effective than standard testing (CAN$6357 [95% CI: 6179-6520] vs. CAN$8783 per patient [95% CI: 2309-31,123]). If ES was used after standard testing, it would cost an additional CAN$15,228 to identify the genetic diagnosis for one additional patient compared with standard testing. The results remained robust when parameters and assumptions were varied. CONCLUSION: ES would likely be cost-saving if used earlier in the diagnostic pathway.
PURPOSE: Genetic testing is routine practice for individuals with unexplained developmental disabilities and multiple congenital anomalies. However, current testing pathways can be costly and time consuming, and the diagnostic yield low. Genome-wide sequencing, including exome sequencing (ES) and genome sequencing (GS), can improve diagnosis, but at a higher cost. This study aimed to assess the cost-effectiveness of genome-wide sequencing in Ontario, Canada. METHODS: A cost-effectiveness analysis was conducted using a discrete event simulation from a public payer perspective. Six strategies involving ES or GS were compared. Outcomes reported were direct medical costs, number of molecular diagnoses, number of positive findings, and number of active treatment changes. RESULTS: If ES was used as a second-tier test (after the current first-tier, chromosomal microarray, fails to provide a diagnosis), it would be less costly and more effective than standard testing (CAN$6357 [95% CI: 6179-6520] vs. CAN$8783 per patient [95% CI: 2309-31,123]). If ES was used after standard testing, it would cost an additional CAN$15,228 to identify the genetic diagnosis for one additional patient compared with standard testing. The results remained robust when parameters and assumptions were varied. CONCLUSION: ES would likely be cost-saving if used earlier in the diagnostic pathway.
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