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Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder

Author

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  • Tracy Yuen

    (University of Toronto
    The Hospital for Sick Children Peter Gilgan Centre for Research and Learning)

  • Melissa T. Carter

    (Children’s Hospital of Eastern Ontario)

  • Peter Szatmari

    (University of Toronto
    The Hospital for Sick Children Peter Gilgan Centre for Research and Learning
    University of Toronto)

  • Wendy J. Ungar

    (University of Toronto
    The Hospital for Sick Children Peter Gilgan Centre for Research and Learning)

Abstract

Background Genome (GS) and exome sequencing (ES) could potentially identify pathogenic variants with greater sensitivity than chromosomal microarray (CMA) in autism spectrum disorder (ASD) but are costlier and result interpretation can be uncertain. Study objective was to compare the costs and outcomes of four genetic testing strategies in children with ASD. Methods A microsimulation model estimated the outcomes and costs (in societal and public payer perspectives in Ontario, Canada) of four genetic testing strategies: CMA for all, CMA for all followed by ES for those with negative CMA and syndromic features (CMA+ES), ES or GS for all. Results Compared to CMA, the incremental cost-effectiveness ratio (ICER) per additional child identified with rare pathogenic variants within 18 months of ASD diagnosis was $CAN5997.8 for CMA+ES, $CAN13,504.2 for ES and $CAN10,784.5 for GS in the societal perspective. ICERs were sensitive to changes in ES or GS diagnostic yields, wait times for test results or pre-test genetic counselling, but were robust to changes in the ES or GS costs. Conclusion Strategic integration of ES into ASD care could be a cost-effective strategy. Long wait times for genetic services and uncertain utility, both clinical and personal, of sequencing results could limit broader clinical implementation.

Suggested Citation

  • Tracy Yuen & Melissa T. Carter & Peter Szatmari & Wendy J. Ungar, 2018. "Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder," Applied Health Economics and Health Policy, Springer, vol. 16(4), pages 481-493, August.
    • Handle: RePEc:spr:aphecp:v:16:y:2018:i:4:d:10.1007_s40258-018-0390-x
    DOI: 10.1007/s40258-018-0390-x
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    Cited by:

    1. Nurchis, Mario Cesare & Riccardi, Maria Teresa & Radio, Francesca Clementina & Chillemi, Giovanni & Bertini, Enrico Silvio & Tartaglia, Marco & Cicchetti, Americo & Dallapiccola, Bruno & Damiani, Gian, 2022. "Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence," Health Policy, Elsevier, vol. 126(4), pages 337-345.

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