We show that integrating multi-omic approaches with ultra-rapid whole-genome sequencing improves diagnosis in critically ill infants and children with rare diseases and can be successfully delivered on a national scale.
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References
Stark, Z. & Ellard, S. Rapid genomic testing for critically ill children: time to become standard of care? Eur. J. Hum. Genet. 30, 142–149 (2022). This review article presents the current evidence for implementing rapid genomic testing in critically ill pediatric patients.
Lunke, S. et al. Feasibility of ultra-rapid exome sequencing in critically ill infants and children in the Australian public healthcare system. JAMA 323, 2503–2511 (2020). This paper reports the feasibility of delivering ultra-rapid exome sequencing across several clinical sites.
Dimmock, D. et al. Project Baby Bear: rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care. Am. J. Hum. Genet. 108, 1231–1238 (2021). This paper presents the results of a multi-site study of rapid whole-genome sequencing in California.
Gorzynski, J. E. et al. Ultrarapid nanopore genome sequencing in a critical care setting. N. Engl. J. Med. 386, 700–702 (2022). This paper demonstrates a time to result of 7.5 hours using long-read sequencing technology.
Lunke, S. & Stark, Z. Can rapid nanopore sequencing bring genomic testing to the bedside? Clin. Chem. 68, 1484–1485 (2022). This commentary summarizes the potential advantages of transition to long-read sequencing in rapid diagnosis programs.
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This is a summary of: Lunke, S. et al. Integrated multi-omics for rapid rare disease diagnosis on a national scale. Nat. Med. https://doi.org/10.1038/s41591-023-02401-9 (2023).
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Multi-omics for better and faster rare disease diagnosis. Nat Med 29, 1615–1616 (2023). https://doi.org/10.1038/s41591-023-02417-1
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DOI: https://doi.org/10.1038/s41591-023-02417-1
