Journal article
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
- Abstract:
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Purpose: The translation of genome sequencing into routine health care has been slow, partly because of concerns about affordability. The aspirational cost of sequencing a genome is $1000, but there is little evidence to support this estimate. We estimate the cost of using genome sequencing in routine clinical care in patients with cancer or rare diseases.
Methods: We performed a microcosting study of Illumina-based genome sequencing in a UK National Health Service laboratory processing 399 samples/year. Cost data were collected for all steps in the sequencing pathway, including bioinformatics analysis and reporting of results. Sensitivity analysis identified key cost drivers.
Results: Genome sequencing costs £6841 per cancer case (comprising matched tumor and germline samples) and £7050 per rare disease case (three samples). The consumables used during sequencing are the most expensive component of testing (68–72% of the total cost). Equipment costs are higher for rare disease cases, whereas consumable and staff costs are slightly higher for cancer cases.
Conclusion: The cost of genome sequencing is underestimated if only sequencing costs are considered, and likely surpasses $1000/genome in a single laboratory. This aspirational sequencing cost will likely only be achieved if consumable costs are considerably reduced and sequencing is performed at scale.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Preview, Version of record, pdf, 678.8KB, Terms of use)
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- Publisher copy:
- 10.1038/s41436-019-0618-7
Authors
- Publisher:
- Springer Nature
- Journal:
- Genetics in Medicine More from this journal
- Volume:
- 22
- Issue:
- 1
- Pages:
- 85-94
- Publication date:
- 2019-07-30
- Acceptance date:
- 2019-07-11
- DOI:
- EISSN:
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1530-0366
- ISSN:
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1098-3600
- Language:
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English
- Keywords:
- Pubs id:
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pubs:1031211
- UUID:
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uuid:72df19a2-6a3c-453c-8941-fae03c4b335c
- Local pid:
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pubs:1031211
- Source identifiers:
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1031211
- Deposit date:
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2019-07-11
- ARK identifier:
Terms of use
- Copyright holder:
- Schwarze et al.
- Copyright date:
- 2019
- Rights statement:
- © The Author(s) 2019. This article is licensed under a Creative Commons Attribution 4.0 International License
- Licence:
- CC Attribution (CC BY)
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