Journal article

Health care costs after genome-wide sequencing for children with rare diseases in England and Canada

Abstract:: Importance Etiologic diagnoses for rare diseases can involve a diagnostic odyssey, with repeated health care interactions and inconclusive diagnostics. Prior studies reported cost savings associated with genome-wide sequencing (GWS) compared with cytogenetic or molecular testing through rapid genetic diagnosis, but there is limited evidence on whether diagnosis from GWS is associated with reduced health care costs.

Objective To measure changes in he...
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Publication status:: Published

Peer review status:: Peer reviewed

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APA Style

Weymann, D., Buckell, J., Fahr, P., Loewen, R., Ehman, M., Pollard, S., Friedman, J. M., Stockler-Ipsiroglu, S., Elliott, A. M., Wordsworth, S., Buchanan, J., & Regier, D. A. (2024). Health care costs after genome-wide sequencing for children with rare diseases in England and Canada. JAMA Network Open, 7(7).

MLA Style

Weymann, D., et al. “Health Care Costs after Genome-Wide Sequencing for Children with Rare Diseases in England and Canada.” JAMA Network Open, vol. 7, no. 7, American Medical Association, 2024.

Chicago Style

Weymann, D, J Buckell, P Fahr, R Loewen, M Ehman, S Pollard, JM Friedman, et al. 2024. “Health Care Costs after Genome-Wide Sequencing for Children with Rare Diseases in England and Canada.” JAMA Network Open 7 (7).
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Files:: Weymann_et_al_2024_Health_care_costs.pdf

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Publisher copy:: 10.1001/jamanetworkopen.2024.20842

Authors

+ Weymann, D More by this author

Role:: Author

+ Buckell, J More by this author

Institution:: University of Oxford
Division:: MSD
Department:: Nuffield Department of Population Health
Role:: Author
ORCID:: 0000-0002-4157-4217

+ Fahr, P More by this author

Institution:: University of Oxford
Division:: MSD
Department:: Nuffield Department of Population Health
Role:: Author

+ Loewen, R More by this author

Role:: Author

+ Ehman, M More by this author

Role:: Author

More authors...

+ Genome British Columbia More from this funder

Grant:: GEN-001 DRG02727

Publisher:: American Medical Association
Journal:: JAMA Network Open More from this journal
Volume:: 7
Issue:: 7
Article number:: e2420842
Publication date:: 2024-07-10
Acceptance date:: 2024-05-07
DOI:: 10.1001/jamanetworkopen.2024.20842
EISSN:: 2574-3805
Pmid:: 38985473

Language:: English
Pubs id:: 2016083
Local pid:: pubs:2016083
Deposit date:: 2024-08-02

Terms of use

Copyright holder:: Weymann et al.
Copyright date:: 2024
Rights statement:: © 2024 Weymann D et al. This is an open access article distributed under the terms of the CC-BY License.

Licence:: CC Attribution (CC BY)

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