Diagnostic genomic sequencing in critically ill children
Author:
Auber Bernd1, Schmidt Gunnar1, Du Chen1ORCID, von Hardenberg Sandra1
Affiliation:
1. Hannover Medical School Department of Human Genetics Hannover Germany
Abstract
Abstract
Rare genetic diseases are a major cause of severe illnesses and deaths in new-borns and infants. Disease manifestation in critically ill children may be atypical or incomplete, making a monogenetic disease difficult to diagnose clinically. Rapid exome or genome (“genomic”) sequencing in critically ill children demonstrated profound diagnostic and clinical value, and there is growing evidence that the faster a molecular diagnosis is established in such children, the more likely clinical management is influenced positively. An early molecular diagnosis enables treatment of critically ill children with precision medicine, has the potential to improve patient outcome and leads to healthcare cost savings. In this review, we outline the status quo of rapid genomic sequencing and possible future implications.
Publisher
Walter de Gruyter GmbH
Subject
Genetics (clinical),Genetics
Reference41 articles.
1. [1] Brett, G. R., Martyn, M., Lynch, F., de Silva, M. G., Ayres, S., Gallacher, L., Boggs, K., Baxendale, A., Schenscher, S., King-Smith, S., Fowles, L., Springer, A., Lunke, S., Vasudevan, A., Krzesinski, E., Pinner, J., Sandaradura, S. A., Barnett, C., Patel, C., … Stark, Z. (2020). Parental experiences of ultrarapid genomic testing for their critically unwell infants and children. Genet Med, 22(12), 1976–1985. https://doi.org/10.1038/s41436-020-0912-4 2. [2] Cakici, J. A., Dimmock, D. P., Caylor, S. A., Gaughran, M., Clarke, C., Triplett, C., Clark, M. M., Kingsmore, S. F., & Bloss, C. S. (2020). A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants. Am J Hum Genet, 107(5), 953–962. https://doi.org/10.1016/j.ajhg.2020.10.004 3. [3] Chung, C. C. Y., Leung, G. K. C., Mak, C. C. Y., Fung, J. L. F., Lee, M., Pei, S. L. C., Yu, M. H. C., Hui, V. C. C., Chan, J. C. K., Chau, J. F. T., Chan, M. C. Y., Tsang, M. H. Y., Wong, W. H. S., Tung, J. Y. L., Lun, K. S., Ng, Y. K., Fung, C. W., Wong, M. S. C., Wong, R. M. S., … Chung, B. H. Y. (2020). Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs. Lancet Reg Health West Pac, 1, 100001. https://doi.org/10.1016/j.lanwpc.2020.100001 4. [4] Clark, M. M., Hildreth, A., Batalov, S., Ding, Y., Chowdhury, S., Watkins, K., Ellsworth, K., Camp, B., Kint, C. I., Yacoubian, C., Farnaes, L., Bainbridge, M. N., Beebe, C., Braun, J. J. A., Bray, M., Carroll, J., Cakici, J. A., Caylor, S. A., Clarke, C., … Kingsmore, S. F. (2019). Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Sci Transl Med, 11(489), eaat6177. https://doi.org/10.1126/scitranslmed.aat6177 5. [5] Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O’Grady, G. L., Estrella, E., Reddy, H. M., Zhao, F., Weisburd, B., Karczewski, K. J., O’Donnell-Luria, A. H., Birnbaum, D., Sarkozy, A., Hu, Y., … MacArthur, D. G. (2017). Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med, 9(386). https://doi.org/10.1126/scitranslmed.aal5209
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