The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
Open accessAbstract
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
Methods for the Economic Evaluation of Health Care Programmes
Drummond, M. E., Sculpher, M. J., Torrance, G. W., O’Brien, B. J., & Stoddart, G. L. (2005) · doi:10.1093/oso/9780198529446.001.0001 · Cited by 13,648
Methods for the economic evaluation of health care programmes
Wilson, S. H. (1987) · Journal of Epidemiology and Community Health · doi:10.1136/jech.41.4.355-a · Cited by 4,275
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., Nussbaum, R. L., O’Daniel, J. M., Ormond, K. E., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.73 · Cited by 2,541
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
Li, M. M., Datto, M., Duncavage, E. J., Kulkarni, S., Lindeman, N. I., Roy, S., Tsimberidou, A. M., Vnencak-Jones, C. L., Wolff, D. J., Younes, A., et al. (2017) · The Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2016.10.002 · Cited by 2,030
Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., Herman, G. E., Hufnagel, S. B., Klein, T. E., Korf, B. R., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2016.190 · Cited by 1,644
National Human Genome Research Institute
National Cancer Institute (2020) · Definitions · doi:10.32388/mrapt2 · Cited by 861
Schwarze, K., Buchanan, J., Taylor, J. C., & Wordsworth, S. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.247 · Cited by 513
Self-citationFactors influencing success of clinical genome sequencing across a broad spectrum of disorders
Taylor, J. C., Martin, H. C., Lise, S., Broxholme, J., Cazier, J.-B., Rimmer, A., Kanapin, A., Lunter, G., Fiddy, S., Allan, C., et al. (2015) · Nature Genetics · doi:10.1038/ng.3304 · Cited by 376
Self-citationThe $1,000 genome, the $100,000 analysis?
Mardis, E. R. (2010) · Genome Medicine · doi:10.1186/gm205 · Cited by 241
Cited by
Conserved pan-cancer microenvironment subtypes predict response to immunotherapy
Bagaev, A., Kotlov, N., Nomie, K., Svekolkin, V., Gafurov, A., Isaeva, O., Osokin, N., Kozlov, I., Frenkel, F., Gancharova, O., et al. (2021) · Cancer Cell · doi:10.1016/j.ccell.2021.04.014 · Cited by 1,302
Kinnersley, B., Sud, A., Everall, A., Cornish, A. J., Chubb, D., Culliford, R., Gruber, A. J., Lärkeryd, A., Mitsopoulos, C., Wedge, D., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01785-9 · Cited by 73
MutationExplorer : a webserver for mutation of proteins and 3D visualization of energetic impacts
Philipp, M., Moth, C. W., Ristic, N., Tiemann, J. K. S., Seufert, F., Panfilova, A., Meiler, J., Hildebrand, P. W., Stein, A., Wiegreffe, D., et al. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae301 · Cited by 35
Metadata
- Authors
- Schwarze, K., Buchanan, J., Fermont, J. M., Dreau, H., Tilley, M. W., Taylor, J. M., Antoniou, P., Knight, S. J. L., Camps, C., Pentony, M. M., Kvikstad, E. M., Harris, S., Popitsch, N., Pagnamenta, A. T., Schuh, A., Taylor, J. C., & Wordsworth, S.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2020-01
- Volume
- 22
- Issue
- 1
- Pages
- 85-94
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2966325970
- Cited by
- 253
- References
- 15
- FWCI
- 16.25
- Type
- journal article
- Language
- en
- Open access
- hybrid
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. https://app.cochat.ai/papers/10.1038/s41436-019-0618-7
- The paper
- Schwarze, K., Buchanan, J., Fermont, J. M., Dreau, H., Tilley, M. W., Taylor, J. M., Antoniou, P., Knight, S. J. L., Camps, C., Pentony, M. M., Kvikstad, E. M., Harris, S., Popitsch, N., Pagnamenta, A. T., Schuh, A., Taylor, J. C., & Wordsworth, S. (2020). The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. Genetics in Medicine. https://doi.org/10.1038/s41436-019-0618-7
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
