The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature
Open accessAbstract
PURPOSE: We conducted a systematic literature review to summarize the current health economic evidence for whole-exome sequencing (WES) and whole-genome sequencing (WGS). METHODS: Relevant studies were identified in the EMBASE, MEDLINE, Cochrane Library, EconLit and University of York Centre for Reviews and Dissemination databases from January 2005 to July 2016. Publications were included in the review if they were economic evaluations, cost studies, or outcome studies. RESULTS: Thirty-six studies met our inclusion criteria. These publications investigated the use of WES and WGS in a variety of genetic conditions in clinical practice, the most common being neurological or neurodevelopmental disorders. Study sample size varied from a single child to 2,000 patients. Cost estimates for a single test ranged from $555 to $5,169 for WES and from $1,906 to $24,810 for WGS. Few cost analyses presented data transparently and many publications did not state which components were included in cost estimates. CONCLUSION: The current health economic evidence base to support the more widespread use of WES and WGS in clinical practice is very limited. Studies that carefully evaluate the costs, effectiveness, and cost-effectiveness of these tests are urgently needed to support their translation into clinical practice.
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
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
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., Braxton, A., Beuten, J., Xia, F., Niu, Z., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1306555 · Cited by 1,964
Diagnostic exome sequencing in persons with severe intellectual disability
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., et al. (2014) · JAMA · doi:10.1001/jama.2014.14601 · Cited by 1,360
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Lee, H., Deignan, J. L., Dorrani, N., Strom, S. P., Kantarci, S., Quintero-Rivera, F., Das, K., Toy, T., Harry, B., Yourshaw, M., et al. (2014) · JAMA · doi:10.1001/jama.2014.14604 · Cited by 973
National Human Genome Research Institute
National Cancer Institute (2020) · Definitions · doi:10.32388/mrapt2 · Cited by 861
Worthey, E. A., Mayer, A. N., Syverson, G. D., Helbling, D., Bonacci, B. B., Decker, B., Serpe, J. M., Dasu, T., Tschannen, M. R., Veith, R. L., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182088158 · Cited by 711
Soden, S. E., Saunders, C. J., Willig, L. K., Farrow, E. G., Smith, L. D., Petrikin, J. E., LePichon, J.-B., Miller, N. A., Thiffault, I., Dinwiddie, D. L., et al. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3010076 · Cited by 528
Clinical Interpretation and Implications of Whole-Genome Sequencing
Dewey, F. E., Grove, M. E., Pan, C., Goldstein, B. A., Bernstein, J. A., Chaib, H., Merker, J. D., Goldfeder, R. L., Enns, G. M., David, S. P., et al. (2014) · JAMA · doi:10.1001/jama.2014.1717 · Cited by 448
Willig, L. K., Petrikin, J. E., Smith, L. D., Saunders, C. J., Thiffault, I., Miller, N. A., Soden, S. E., Cakici, J. A., Herd, S. M., Twist, G., et al. (2015) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(15)00139-3 · Cited by 401
Cited by
Artificial intelligence-based multi-omics analysis fuels cancer precision medicine
He, X., Liu, X., Zuo, F., Shi, H., & Jing, J. (2023) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2022.12.009 · Cited by 445
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., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-019-0618-7 · Cited by 253
Self-citationA population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy
Howell, K. B., Eggers, S., Dalziel, K., Riseley, J., Mandelstam, S., Myers, C. T., McMahon, J. M., Schneider, A., Carvill, G. L., Mefford, H. C., et al. (2018) · Epilepsia · doi:10.1111/epi.14087 · Cited by 114
Nurchis, M. C., Altamura, G., Riccardi, M. T., Radio, F. C., Chillemi, G., Bertini, E. S., Garlasco, J., Tartaglia, M., Dallapiccola, B., & Damiani, G. (2023) · Archives of Public Health · doi:10.1186/s13690-023-01112-4 · Cited by 65
Mazzarotto, F., Olivotto, I., Boschi, B., Girolami, F., Poggesi, C., Barton, P. J. R., & Walsh, R. (2020) · Journal of the American Heart Association · doi:10.1161/jaha.119.015473 · Cited by 63
Metadata
- Authors
- Schwarze, K., Buchanan, J., Taylor, J. C., & Wordsworth, S.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2018-10
- Volume
- 20
- Issue
- 10
- Pages
- 1122-1130
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2788468983
- Cited by
- 513
- References
- 37
- FWCI
- 9.25
- 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: Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. https://app.cochat.ai/papers/10.1038/gim.2017.247
- The paper
- Schwarze, K., Buchanan, J., Taylor, J. C., & Wordsworth, S. (2018). Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genetics in Medicine. https://doi.org/10.1038/gim.2017.247
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.
