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

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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.

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Data Availability Statement

The TreeAge model and R code for analyzing the data are available at tspace.library.utoronto.ca/handle/1807/80706, a public repository for the University of Toronto.

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Acknowledgements

The authors would like to acknowledge inputs from Robyn Hayeems, Ny Hoang, Cheryl Shuman and Kate Tsiplova on the parameters used in the model.

Author information

Authors and Affiliations

  1. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada

    Tracy Yuen, Peter Szatmari & Wendy J. Ungar

  2. Child Health Evaluative Sciences, The Hospital for Sick Children Peter Gilgan Centre for Research and Learning, 11/F, 686 Bay St, Toronto, M5G 0A4, Canada

    Tracy Yuen, Peter Szatmari & Wendy J. Ungar

  3. Regional Genetics Program, Children’s Hospital of Eastern Ontario, Ottawa, Canada

    Melissa T. Carter

  4. Centre for Addiction and Mental Health, Hospital for Sick Children, University of Toronto, Toronto, Canada

    Peter Szatmari

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Contributions

All authors (TY, MTC, PS, WJU) contributed to the conceptualization of model, interpretation of findings, editing of the manuscript and provided final approval of the paper. TY and WJU were responsible for model building, data analysis and drafting the manuscript.

Corresponding author

Correspondence to Wendy J. Ungar.

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Funding

TY was supported through the Canada Institutes of Health Research Autism Research Training Program, Doctoral Autism Scholars Award, Ontario Graduate Scholarship and RestraComp Hospital for Sick Children Foundation Student Scholarship Program. No other funding was received for this study.

Conflict of interest

All authors (TY, MTC, PS, WJU) declare no conflicts of interest.

Human and animal rights statement

This article does not contain studies with human participant or animals performed by any of the authors.

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For this type of study formal consent is not required.

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Yuen, T., Carter, M.T., Szatmari, P. et al. Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder. Appl Health Econ Health Policy 16, 481–493 (2018). https://doi.org/10.1007/s40258-018-0390-x

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