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. 2018 Oct;20(10):1122-1130.
doi: 10.1038/gim.2017.247. Epub 2018 Feb 15.

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

Katharina Schwarze  1 , James Buchanan  1 , Jenny C Taylor  2   3 , Sarah Wordsworth  4   5
Affiliations
Free article

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

Katharina Schwarze et al. Genet Med. 2018 Oct.
Free article

Abstract

Purpose: We conducted a systematic literature review to summarize the current health economic evidence for whole-exome sequencing (WES) and whole-genome sequencing (WGS).

Methods: Relevant studies were identified in the EMBASE, MEDLINE, Cochrane Library, EconLit and University of York Centre for Reviews and Dissemination databases from January 2005 to July 2016. Publications were included in the review if they were economic evaluations, cost studies, or outcome studies.

Results: Thirty-six studies met our inclusion criteria. These publications investigated the use of WES and WGS in a variety of genetic conditions in clinical practice, the most common being neurological or neurodevelopmental disorders. Study sample size varied from a single child to 2,000 patients. Cost estimates for a single test ranged from $555 to $5,169 for WES and from $1,906 to $24,810 for WGS. Few cost analyses presented data transparently and many publications did not state which components were included in cost estimates.

Conclusion: The current health economic evidence base to support the more widespread use of WES and WGS in clinical practice is very limited. Studies that carefully evaluate the costs, effectiveness, and cost-effectiveness of these tests are urgently needed to support their translation into clinical practice.

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References

    1. National Human Genome Research Institute. The Cost of Sequencing a Human Genome. https://www.genome.gov/sequencingcosts/ . Accessed 17 May 2017.
    1. Davies SC. Annual Report of the Chief Medical Officer 2016, Generation Genome. Department of Health: London, 2017.
    1. Shashi V, McConkie-Rosell A, Rosell B et al. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med. 2014;16:176–182. - DOI
    1. de Ligt J, Willemsen MH, van Bon BW et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367:1921–1929. - DOI
    1. Lee H, Deignan JL, Dorrani N et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312:1880–1887. - DOI

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