Journal article
Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature
- Abstract:
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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.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Preview, Version of record, pdf, 2.9MB, Terms of use)
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- Publisher copy:
- 10.1038/gim.2017.247
Authors
- Funding agency for:
- Taylor, J
- Wordsworth, S
- Publisher:
- Nature Publishing Group
- Journal:
- Genetics in Medicine More from this journal
- Volume:
- 20
- Pages:
- 1122–1130
- Publication date:
- 2018-02-15
- Acceptance date:
- 2017-11-27
- DOI:
- EISSN:
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1530-0366
- ISSN:
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1098-3600
- Pmid:
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29446766
- Language:
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English
- Keywords:
- Pubs id:
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pubs:825633
- UUID:
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uuid:8cf329bc-73f9-41c0-b27b-3d944f8f9096
- Local pid:
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pubs:825633
- Source identifiers:
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825633
- Deposit date:
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2018-02-28
Terms of use
- Copyright holder:
- © Schwarze, et al
- Copyright date:
- 2018
- Notes:
- This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
- Licence:
- CC Attribution (CC BY)
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