Journal article

Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers

Abstract:: Objective: To evaluate systematic review approaches to synthesising evidence for policy advisers who are considering whether to screen newborns for hundreds of rare diseases using whole genome sequencing. Design: Series of systematic reviews and roadmap for evidence generation for policy advisers. Data sources: Medline, Embase, Science Citation Index, Cochrane Library. Methods: 200 conditions included in Genomics England's Generation Study were stratified into five groups and one condition ra...
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Publication status:: Published

Peer review status:: Peer reviewed

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APA Style

Freeman, K., Taylor, D., Dinnes, J., Clark, C. C. A., Kander, I., Scandrett, K., Chockalingam, S., Dracup, N., Court, R., Butt, F., Visintin, C., Bonham, J. R., Elliman, D., Shortland, G., Mackie, A., Miedzybrodzka, Z. H., Morgan, S. M., Boardman, F. K., Takwoingi, Y., … Taylor-Phillips, S. (2025). Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers. BMJ Medicine, 4(1), e001726–e001726.

MLA Style

Freeman, K, et al. “Challenges in Evaluating Whole Genome Sequencing for Newborn Screening: Series of Systematic Reviews and Roadmap for Evidence Generation for Policy Advisers.” BMJ Medicine, vol. 4, no. 1, 2025, pp. e001726–e001726.

Chicago Style

Freeman, K, D Taylor, J Dinnes, et al. 2025. “Challenges in Evaluating Whole Genome Sequencing for Newborn Screening: Series of Systematic Reviews and Roadmap for Evidence Generation for Policy Advisers.” BMJ Medicine 4 (1): e001726–e001726.
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Files:: Freeman_et_al_2025_Challenges_in_evaluating.pdf

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Publisher copy:: 10.1136/bmjmed-2025-001726

Authors

+ Freeman, K More by this author

Role:: Author
ORCID:: 0000-0002-9963-2918

+ Taylor, D More by this author

Institution:: University of Oxford
Role:: Author

+ Dinnes, J More by this author

Role:: Author
ORCID:: 0000-0003-1343-7335

+ Clark, CCA More by this author

Role:: Author
ORCID:: 0000-0002-1077-9383

+ Kander, I More by this author

Role:: Author

More authors...

+ National Institute for Health Research More from this funder

Funder identifier:: https://ror.org/0187kwz08

Publisher:: BMJ Publishing Group
Journal:: BMJ Medicine More from this journal
Volume:: 4
Issue:: 1
Pages:: e001726-e001726
Article number:: bmjmed-2025-001726
Publication date:: 2025-11-21
Acceptance date:: 2025-10-24
DOI:: 10.1136/bmjmed-2025-001726
EISSN:: 2754-0413
ISSN:: 2754-0413

Language:: English
Keywords:: Health policy

Genetics, medical

Pediatrics
Pubs id:: 2344583
UUID:: uuid_3ddd0d5d-480b-40ca-aee1-3deed11b26cf
Local pid:: pubs:2344583
Source identifiers:: 3595484
Deposit date:: 2025-12-24
ARK identifier:: ark:/29072/ora_3ddd0d5d480b40caaee13deed11b26cf

Terms of use

Copyright date:: 2025

Licence:: CC Attribution-NonCommercial (CC BY-NC)

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