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. 2020 Dec;22(12):1986-1993.
doi: 10.1038/s41436-020-0929-8. Epub 2020 Aug 10.

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Alison Yeung  1   2   3 , Natalie B Tan  4 , Tiong Y Tan  4   5   6 , Zornitza Stark  4   5   6 , Natasha Brown  4   6 , Matthew F Hunter  7   8 , Martin Delatycki  4   6 , Chloe Stutterd  4   6 , Ravi Savarirayan  4   6 , George Mcgillivray  4 , Rachel Stapleton  4 , Smitha Kumble  4 , Lilian Downie  4   6 , Matthew Regan  7   8 , Sebastian Lunke  4 , Belinda Chong  4 , Dean Phelan  4 , Gemma R Brett  4   5   6 , Anna Jarmolowicz  4   5 , Yael Prawer  5   7   8 , Giulia Valente  5   9 , Yana Smagarinsky  4   5 , Melissa Martyn  5   6   10 , Callum McEwan  5 , Ilias Goranitis  10   11   12 , Clara Gaff  5   6   10 , Susan M White  4   5   6
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Free article

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Alison Yeung et al. Genet Med. 2020 Dec.
Free article

Abstract

Purpose: Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions are limited by the lack of well-defined comparative cohorts. We sought to evaluate the cost-effectiveness of early GS in pediatric patients with complex monogenic conditions compared with a matched historical cohort.

Methods: Data, including investigation costs, were collected in a prospective cohort of 92 pediatric patients undergoing singleton GS over an 18-month period (2016-2017) with two of the following: a condition with high mortality, multisystem disease involving three or more organs, or severe limitation of daily function. Comparative data were collected in a matched historical cohort who underwent traditional investigations in the years 2012-2013.

Results: GS yielded a diagnosis in 42% while traditional investigations yielded a diagnosis in 23% (p = 0.003). A change in management was experienced by 74% of patients diagnosed following GS, compared with 32% diagnosed following traditional investigations. Singleton GS at a cost of AU$3100 resulted in a mean saving per person of AU$3602 (95% confidence interval [CI] AU$2520-4685). Cost savings occurred across all investigation subtypes and were only minimally offset by clinical management costs.

Conclusion: GS in complex pediatric patients saves significant costs and doubles the diagnostic yield of traditional approaches.

Keywords: cost-effectiveness; exome sequencing; genomic sequencing; monogenic; pediatric.

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References

    1. McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children’s hospital. Am J Hum Genet. 2004;74:121–127. - DOI
    1. Walker CE, Mahede T, Davis G, et al. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet Med. 2017;19:546–552. - DOI
    1. Bick D, Fraser PC, Gutzeit MF, et al. Successful application of whole genome sequencing in a medical genetics clinic. J Pediatr Genet. 2017;6:61–76. - PubMed
    1. Baldridge D, Heeley J, Vineyard M, et al. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017;19:1040–1048. - DOI
    1. Farwell KD, Shahmirzadi L, El-Khechen D, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015;17:578–586. - DOI

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