The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
<br><strong>Purpose: </strong>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 c...
| Main Authors: | , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Springer Nature
2019
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| _version_ | 1797075545642500096 |
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| author | Schwarze, K Buchanan, J Fermont, JM Dreau, H Tilley, MW Taylor, JM Antoniou, P Knight, SJL Camps, C Pentony, MM Kvikstad, EM Harris, S Popitsch, N Pagnamenta, AT Schuh, A Taylor, JC Wordsworth, S |
| author_facet | Schwarze, K Buchanan, J Fermont, JM Dreau, H Tilley, MW Taylor, JM Antoniou, P Knight, SJL Camps, C Pentony, MM Kvikstad, EM Harris, S Popitsch, N Pagnamenta, AT Schuh, A Taylor, JC Wordsworth, S |
| author_sort | Schwarze, K |
| collection | OXFORD |
| description | <br><strong>Purpose: </strong>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.</br>
<br><strong>Methods: </strong>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.</br>
<br><strong>Results: </strong>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.</br>
<br><strong>Conclusion: </strong>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.</br> |
| first_indexed | 2024-03-06T23:51:49Z |
| format | Journal article |
| id | oxford-uuid:72df19a2-6a3c-453c-8941-fae03c4b335c |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T23:51:49Z |
| publishDate | 2019 |
| publisher | Springer Nature |
| record_format | dspace |
| spelling | oxford-uuid:72df19a2-6a3c-453c-8941-fae03c4b335c2022-03-26T19:52:52ZThe complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United KingdomJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:72df19a2-6a3c-453c-8941-fae03c4b335cEnglishSymplectic Elements at OxfordSpringer Nature2019Schwarze, KBuchanan, JFermont, JMDreau, HTilley, MWTaylor, JMAntoniou, PKnight, SJLCamps, CPentony, MMKvikstad, EMHarris, SPopitsch, NPagnamenta, ATSchuh, ATaylor, JCWordsworth, S<br><strong>Purpose: </strong>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.</br> <br><strong>Methods: </strong>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.</br> <br><strong>Results: </strong>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.</br> <br><strong>Conclusion: </strong>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.</br> |
| spellingShingle | Schwarze, K Buchanan, J Fermont, JM Dreau, H Tilley, MW Taylor, JM Antoniou, P Knight, SJL Camps, C Pentony, MM Kvikstad, EM Harris, S Popitsch, N Pagnamenta, AT Schuh, A Taylor, JC Wordsworth, S The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom |
| title | The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom |
| title_full | The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom |
| title_fullStr | The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom |
| title_full_unstemmed | The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom |
| title_short | The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom |
| title_sort | complete costs of genome sequencing a microcosting study in cancer and rare diseases from a single center in the united kingdom |
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