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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

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.
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