Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Mar;23(3):451-460.
doi: 10.1038/s41436-020-01012-w. Epub 2020 Oct 28.

Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies

Chunmei Li  1 , Stacey Vandersluis  2 , Corinne Holubowich  2 , Wendy J Ungar  3   4 , Elaine S Goh  5 , Kym M Boycott  6 , Nancy Sikich  2 , Irfan Dhalla  2   7 , Vivian Ng  2
Affiliations
Free article

Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies

Chunmei Li et al. Genet Med. 2021 Mar.
Free article

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.

Keywords: cost-effectiveness; developmental disabilities; genome-wide sequencing; multiple congenital anomalies.

PubMed Disclaimer

References

    1. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86:749–64. - DOI
    1. Jimenez-Gomez A, Standridge SM. A refined approach to evaluating global developmental delay for the international medical community. Pediatr Neurol. 2014;51:198–206. - DOI
    1. Bélanger SA, Caron J. Evaluation of the child with global developmental delay and intellectual disability. Paediatr Child Health. 2018;23:403–10. - DOI
    1. Sun F, Oristaglio J, Levy SE, Hakonarson H, Sullivan N, Fontanarosa J, et al. AHRQ comparative effectiveness technical briefs. Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder. Rockville, MD: US Agency for Healthcare Research and Quality; 2015.
    1. Moeschler JB, Shevell M. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014;134:e903–18. - DOI

Publication types

LinkOut - more resources