The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Open accessAbstract
Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-genome sequencing (rWGS) can diagnose genetic disorders in time to change acute medical or surgical management (clinical utility) and improve outcomes in acutely ill infants. We report a retrospective cohort study of acutely ill inpatient infants in a regional children’s hospital from July 2016–March 2017. Forty-two families received rWGS for etiologic diagnosis of genetic disorders. Probands also received standard genetic testing as clinically indicated. Primary end-points were rate of diagnosis, clinical utility, and healthcare utilization. The latter was modelled in six infants by comparing actual utilization with matched historical controls and/or counterfactual utilization had rWGS been performed at different time points. The diagnostic sensitivity of rWGS was 43% (eighteen of 42 infants) and 10% (four of 42 infants) for standard genetic tests ( P = .0005). The rate of clinical utility of rWGS (31%, thirteen of 42 infants) was significantly greater than for standard genetic tests (2%, one of 42; P = .0015). Eleven (26%) infants with diagnostic rWGS avoided morbidity, one had a 43% reduction in likelihood of mortality, and one started palliative care. In six of the eleven infants, the changes in management reduced inpatient cost by $800,000–$2,000,000. These findings replicate a prior study of the clinical utility of rWGS in acutely ill inpatient infants, and demonstrate improved outcomes and net healthcare savings. rWGS merits consideration as a first tier test in this setting.
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“reflecting the clinical utility of rapid WGS in decreasing infant morbidity.”
From Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review (2023) · cites this paper as [14]
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Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia
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Clark, M. M., Stark, Z., Farnaes, L., Tan, T. Y., White, S. M., Dimmock, D., & Kingsmore, S. F. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0053-8 · Cited by 619
Self-citationManickam, K., McClain, M. R., Demmer, L., Biswas, S., Kearney, H. M., Malinowski, J. R., Massingham, L. J., Miller, D. E., Yu, T. W., & Hisama, F. M. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01242-6 · Cited by 675
Personalized Medicine and the Power of Electronic Health Records
Abul-Husn, N. S., & Kenny, E. E. (2019) · Cell · doi:10.1016/j.cell.2019.02.039 · Cited by 355
Therapies for rare diseases: therapeutic modalities, progress and challenges ahead
Tambuyzer, E., Vandendriessche, B., Austin, C. P., Brooks, P. J., Larsson, K., Miller Needleman, K. I., Valentine, J., Davies, K., Groft, S. C., Preti, R., et al. (2020) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0049-9 · Cited by 357
Kingsmore, S. F., Cakici, J. A., Clark, M. M., Gaughran, M., Feddock, M., Batalov, S., Bainbridge, M. N., Carroll, J. M., Caylor, S. A., Clarke, C., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.08.009 · Cited by 354
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Metadata
- Authors
- Farnaes, L., Hildreth, A., Sweeney, N. M., Clark, M. M., Chowdhury, S., Nahas, S., Cakici, J. A., Benson, W., Kaplan, R. H., Kronick, R., Bainbridge, M. N., Friedman, J., Gold, J. J., Ding, Y., Veeraraghavan, N., Dimmock, D., & Kingsmore, S. F.
- Affiliations
- University of California San Diego (US)
- Rady Children's Institute for Genomic Medicine (US)
- Corresponding author
- Kingsmore, Stephen F.
- ORCID
- Venue
- npj Genomic Medicine
- Published
- 2018-04-04
- Volume
- 3
- Issue
- 1
- Pages
- 10-10
- ISSN
- 2056-7944 (ISSN-L)
- PMC
- PMC5884823
- OpenAlex
- W2795749588
- Cited by
- 445
- References
- 34
- Citations by year
- 2026: 33 · 2025: 39 · 2024: 51 · 2023: 67 · 2022: 69 · 2021: 68 · 2020: 60 · 2019: 46 · 2018: 11
- FWCI
- 28.30
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- npj Genomic Medicine (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- National Human Genome Research Institute
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U19HD077693, R01HD101540)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- rapid whole genome sequencing, infants, genetic disorders, diagnostic yield, clinical utility, health care utilization, hospital costs, acute illness, diagnostic sensitivity, palliative care, mortality
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