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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.

Published version
Peer-reviewed

Type

Article

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Authors

Schwarze, Katharina 
Fermont, Jilles M 
Dreau, Helene 
Tilley, Mark W 

Abstract

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.

Description

Keywords

cancer, cost, genome sequencing, next-generation sequencing, rare diseases, High-Throughput Nucleotide Sequencing, Humans, Neoplasms, Rare Diseases, State Medicine, Translational Research, Biomedical, United Kingdom, Whole Genome Sequencing

Journal Title

Genet Med

Conference Name

Journal ISSN

1098-3600
1530-0366

Volume Title

22

Publisher

Elsevier BV