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The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.

Schwarze, Katharina; Buchanan, James; Fermont, Jilles M; Dreau, Helene; Tilley, Mark W; Taylor, John M; Antoniou, Pavlos; Knight, Samantha J L; Camps, Carme; Pentony, Melissa M; Kvikstad, Erika M; Harris, Steve; Popitsch, Niko; Pagnamenta, Alistair T; Schuh, Anna; Taylor, Jenny C; Wordsworth, Sarah.
Genet Med; 22(1): 85-94, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31358947


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.


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.


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.


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.
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