Journal
GENETICS IN MEDICINE
Volume 22, Issue 1, Pages 85-94Publisher
ELSEVIER SCIENCE INC
DOI: 10.1038/s41436-019-0618-7
Keywords
genome sequencing; cost; cancer; rare diseases; next-generation sequencing
Categories
Funding
- Health Innovation Challenge Fund [R6-388/WT 100127]
- Wellcome Trust
- Department of Health
- Wellcome Trust Center for Human Genetics Wellcome Trust Core Award [203141/Z/16/Z]
- National Institute for Health Research (NIHR) Oxford Biomedical Research Center (BRC)
- NIHR Oxford BRC
Ask authors/readers for more resources
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 pound per cancer case (comprising matched tumor and germline samples) and 7050 pound 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available