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Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies
- Source :
- Genetics in Medicine. 23:451-460
- Publication Year :
- 2021
- Publisher :
- Elsevier BV, 2021.
-
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.
- Subjects :
- 0301 basic medicine
Pediatrics
medicine.medical_specialty
Cost effectiveness
Cost-Benefit Analysis
Developmental Disabilities
030105 genetics & heredity
Genome
DNA sequencing
03 medical and health sciences
Exome Sequencing
medicine
Humans
Abnormalities, Multiple
Medical diagnosis
Child
health care economics and organizations
Genetics (clinical)
Exome sequencing
Genetic testing
Ontario
medicine.diagnostic_test
business.industry
030104 developmental biology
Active treatment
Genetic diagnosis
business
Subjects
Details
- ISSN :
- 10983600
- Volume :
- 23
- Database :
- OpenAIRE
- Journal :
- Genetics in Medicine
- Accession number :
- edsair.doi.dedup.....caf2584c5c84a86f279dad0a3046b7a1