The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
Open accessAbstract
PURPOSE: With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions. This study aimed to identify genetic conditions in neonatal (NICU) and paediatric (PICU) intensive care populations. METHODS: We performed trio whole genome sequence (WGS) analysis on a prospective cohort of families recruited in NICU and PICU at a single site in the UK. We developed a research pipeline in collaboration with the National Health Service to deliver validated pertinent pathogenic findings within 2-3 weeks of recruitment. RESULTS: A total of 195 families had whole genome analysis performed (567 samples) and 21% received a molecular diagnosis for the underlying genetic condition in the child. The phenotypic description of the child was a poor predictor of the gene identified in 90% of cases, arguing for gene agnostic testing in NICU/PICU. The diagnosis affected clinical management in more than 65% of cases (83% in neonates) including modification of treatments and care pathways and/or informing palliative care decisions. A 2-3 week turnaround was sufficient to impact most clinical decision-making. CONCLUSIONS: The use of WGS in intensively ill children is acceptable and trio analysis facilitates diagnoses. A gene agnostic approach was effective in identifying an underlying genetic condition, with phenotypes and symptomatology being primarily used for data interpretation rather than gene selection. WGS analysis has the potential to be a first-line diagnostic tool for a subset of intensively ill children.
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Cites
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587
ClinVar: improving access to variant interpretations and supporting evidence
Landrum, M. J., Lee, J. M., Benson, M., Brown, G. R., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Jang, W., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx1153 · Cited by 4,196
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Farnaes, L., Hildreth, A., Sweeney, N. M., Clark, M. M., Chowdhury, S., Nahas, S., Cakici, J. A., Benson, W., Kaplan, R. H., Kronick, R., et al. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0049-4 · Cited by 445
De novo mutations in regulatory elements in neurodevelopmental disorders
Short, P. J., McRae, J. F., Gallone, G., Sifrim, A., Won, H., Geschwind, D. H., Wright, C. F., Firth, H. V., FitzPatrick, D. R., Barrett, J. C., et al. (2018) · Nature · doi:10.1038/nature25983 · Cited by 274
Self-citationMeeting the challenges of implementing rapid genomic testing in acute pediatric care.
Stark, Z., Lunke, S., Brett, G. R., Tan, N. B., Stapleton, R., Kumble, S., Yeung, A., Phelan, D. G., Chong, B., Fanjul-Fernandez, M., et al. (2018) · Genetics in Medicine · doi:10.1038/gim.2018.37 · Cited by 159
Cited by
Dimmock, D., Caylor, S., Waldman, B., Benson, W., Ashburner, C., Carmichael, J. L., Carroll, J., Cham, E., Chowdhury, S., Cleary, J., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.05.008 · Cited by 259
Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA · doi:10.1001/jama.2020.7671 · Cited by 239
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
Chen, X., Sanchis-Juan, A., French, C. E., Connell, A. J., Delon, I., Kingsbury, Z., Chawla, A., Halpern, A. L., Taft, R. J., Bentley, D. R., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0754-0 · Cited by 137
Self-citationD'Gama, A. M., Mulhern, S., Sheidley, B. R., Boodhoo, F., Buts, S., Chandler, N. J., Cobb, J., Curtis, M., Higginbotham, E. J., Holland, J., et al. (2023) · The Lancet Neurology · doi:10.1016/s1474-4422(23)00246-6 · Cited by 80
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
Metadata
- Authors
- Disease, N. B., French, C. E., Next Generation Children Project, Delon, I., Dolling, H., Sanchis-Juan, A., Shamardina, O., Mégy, K., Abbs, S., Austin, T., Bowdin, S., Branco, R. G., Firth, H., Rowitch, D. H., & Raymond, F. L.
- Venue
- Intensive Care Medicine
- Published
- 2019-03-07
- Volume
- 45
- Issue
- 5
- Pages
- 627-636
- ISSN
- 0342-4642 (ISSN-L)
- 1432-1238
- OpenAlex
- W2922259456
- Cited by
- 251
- References
- 5
- FWCI
- 16.93
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Disease, N. B., French, C. E., Next Generation Children Project, Delon, I., Dolling, H., Sanchis-Juan, A., Shamardina, O., Mégy, K., Abbs, S., Austin, T., Bowdin, S., Branco, R. G., Firth, H., Rowitch, D. H., & Raymond, F. L. (2019). Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Medicine. https://doi.org/10.1007/s00134-019-05552-x
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