Genome-to-Treatment and Begin Newborn Genomic Screening: A Review of System Guides for the Acute Management and Newborn Screening Follow-up of Genetic Disorders in Infants and Children
Main Article Content
Abstract
Many rare genetic conditions have effective interventions; however, without timely implementation, these conditions can progress to severe morbidity and even mortality. For the most relentlessly progressive conditions, a rapid molecular diagnosis alone is not sufficient to improve outcomes in these conditions. Frontline physicians are frequently unfamiliar with many of these conditions and their treatments. Additionally, the field of genetics is rapidly expanding and new conditions along with new interventions are being increasingly described. Here we present a review of the development and use of two linked automated systems developed to help overcome this problem. The first, GTR X (gene to treatment) has been developed to assist with the management of the acutely ill neonate infant or child in the neonatal or pediatric intensive care unit found to have a recognized genetic disease. Subsequently with expansion of newborn screening to potentially involve rapid next generation sequencing of newborns in parallel with the current analyte based newborn screening, we have developed an additional system, BeginNGS, intended to be used with currently available ACTion (ACT) sheets that will address both recommended confirmatory testing and initial interventions, particularly focusing on conditions that are not amenable to conventional newborn screening.
Keywords:
Genetic Disorders in Infants and Children, Genome-to-Treatment
Article Details
How to Cite
SMITH, Laurie D. et al.
Genome-to-Treatment and Begin Newborn Genomic Screening: A Review of System Guides for the Acute Management and Newborn Screening Follow-up of Genetic Disorders in Infants and Children.
Medical Research Archives, [S.l.], v. 11, n. 10, oct. 2023.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/4528>. Date accessed: 22 dec. 2024.
doi: https://doi.org/10.18103/mra.v11i10.4528.
Section
Research Articles
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
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14. Kingsmore SF, Nanda Ramchandar, James KN, et al. Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system. Cold Spring Harbor molecular case studies. 2020; 6 (1):a004705-a004705. doi: https://doi.org/10.1101/mcs.a 004705
15. Petrikin JE, Willig LK, Smith LD, Kingsmore SF. Rapid whole genome sequencing and precision neonatology. Seminars in Perinatology. 2015; 39 (8):623-631. doi: https://doi.org/10.1053/j.semperi.2015.09.009
16. Kingsmore SF, Cakici JA, Clark MM, et al. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. The American Journal of Human Genetics. 2019; 105(4):719-733. doi: https://doi.org/10.1016/j.ajhg. 2019.08.009
17. Clark MM, Hildreth A, Batalov S, et al. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Science Translational Medicine. 2019; 11 (489). doi: https://doi.org/10.1126/scitranslmed.aat6177
18. Bamborschke D, Özdemir Ö, Kreutzer M, et al. Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours. American Journal of Medical Genetics Part A. 2020; 185 (1):90-96. doi: https://doi.org/10.1002/ajmg.a.61917
19. Dimmock D, Caylor S, Waldman B, 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. The American Journal of Human Genetics. 2021; 108 (7):1231-1238. doi: https://doi.org/10.1016/j.ajhg.2021.05.008
20. Wojcik MH, Fishler KP, Chaudhari BP. Re: “Next generation sequencing in neonatology: what does it mean for the next generation?” Human Genetics. 2022; 142 (2):161-164. doi: https://doi.org/10.1007/s00439-022-02498-x
21. Reiff M, Ross K, Mulchandani S, et al. Physicians’ perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clinical Genetics. 2013; 83 (1):23-30. doi: https://doi.org/10.1111/cge.12004
22. Shah M, Arthavan Selvanathan, Gareth Baynam, et al. Paediatric genomic testing: Navigating genomic reports for the general paediatrician. Journal of Paediatrics and Child Health. 2021; 58 (1):8-15. doi: https://doi.org/10.1111/jpc.15703
23. Bansal S, Kasturi K, Chin V. National Survey Assessment of the United States’ Pediatric Residents’ Knowledge, Attitudes, and Practices Regarding Newborn Screening. International Journal of Neonatal Screening. 2018; 5 (1):3. doi: https://doi.org/10.3390/ijns5010003
24. Musunuru K, Hershberger RE, Day SM, et al. Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association. Circulation: Genomic and Precision Medicine. 2020; 13 (4). doi: https://doi.org/10.1161/hcg.0000000000000067
25.Johnson LM, Valdez JM, Quinn EA, et al. Integrating next-generation sequencing into pediatric oncology practice: An assessment of physician confidence and understanding of clinical genomics. Cancer. 2017;123(12):2352-2359. doi: https://doi.org/10.1002/cncr.30581
26. Marchetti F, Corsello G. Genetics and”democracy”. Italian Journal of Pediatrics. 2022; 48(1). doi: https://doi.org/10.1186/s13052-022-01391-7
27. Salciccioli KB, Oluyomi A, Lupo PJ, Ermis PR, Lopez KN. A model for geographic and sociodemographic access to care disparities for adults with congenital heart disease. Congenital Heart Disease. 2019; 14(5):752-759. doi: https://doi.org/10.1111/chd.12819
28. Grineski SE, Morales DX, Collins TW, Wilkes J, Bonkowsky JL. Geographic and Specialty Access Disparities in US Pediatric Leukodystrophy Diagnosis. The Journal of Pediatrics. 2020; 220 (220):193-199. doi: https://doi.org/10.1016/j.jpeds.2020.01.063
29. Owen MJ, Lefebvre S, Hansen C, et al. An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. Nature Communications. 2022; 13 (1):4057. doi: https://doi.org/10.1038/s41467-022-31446-6
30. Harding B, Webber C, Rühland L, et al. Bridging the gap in genetics: a progressive model for primary to specialist care. BMC Medical Education. 2019; 19 (1). doi: https://doi.org/10.1186/s12909-019-1622-y
31. Kingsmore SF, Smith LD, Kunard CM, et al. A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. The American Journal of Human Genetics. 2022; 109 (9):1605-1619. doi: https://doi.org/10.1016/j.ajhg.2022.08.003
32. Adhikari AN, Gallagher RC, Wang Y, et al. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nature Medicine. 2020; 26 (9):1392-1397. doi: https://doi.org/10.1038/s41591-020-0966-5
33. Woerner AC, Gallagher RC, Vockley J, Adhikari AN. The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health. Frontiers in Pediatrics. 2021; 9 (9). doi: https://doi.org/10.3389/fped.2021.663752
34. Bodian DL, Klein E, Iyer RK, et al. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. Genetics in Medicine. 2015; 18 (3):221-230. doi: https://doi.org/10.1038/gim.2015.111
35. Ding Y, Owen M, Le J, et al. Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots. npj Genomic Medicine. 2023; 8(1). doi: https://doi.org/10.1038/s41525-023-00349-w
36. Huang X, Wu D, Zhu L, et al. Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates. Orphanet Journal of Rare Diseases. 2022; 17(1). doi: https://doi.org/10.1186/s13023-022-02231-x
37. Wolters Kluwer. UpToDate: Evidence-based Clinical Decision Support. www.wolterskluwer.com. Published 2023. https://www.wolterskluwer.com/en/solutions/uptodate
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