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Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
Open accessAbstract
Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine (RPM) is an intervention that has demonstrated improved clinical outcomes and reduced costs of care. However, the feasibility of broad clinical deployment has not been established. The objective of this study was to implement RPM based on rWGS and evaluate the clinical and economic impact of this implementation as a first line diagnostic test in the California Medicaid (Medi-Cal) program. Project Baby Bear was a payor funded, prospective, real-world quality improvement project in the regional ICUs of five tertiary care children's hospitals. Participation was limited to acutely ill Medi-Cal beneficiaries who were admitted November 2018 to May 2020, were <1 year old and within one week of hospitalization, or had just developed an abnormal response to therapy. The whole cohort received RPM. There were two prespecified primary outcomes-changes in medical care reported by physicians and changes in the cost of care. The majority of infants were from underserved populations. Of 184 infants enrolled, 74 (40%) received a diagnosis by rWGS that explained their admission in a median time of 3 days. In 58 (32%) affected individuals, rWGS led to changes in medical care. Testing and precision medicine cost $1.7 million and led to $2.2-2.9 million cost savings. rWGS-based RPM had clinical utility and reduced net health care expenditures for infants in regional ICUs. rWGS should be considered early in ICU admission when the underlying etiology is unclear.
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Self-citationRapid 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
Self-citationMeng, L., Pammi, M., Saronwala, A., Magoulas, P., Ghazi, A. R., Vetrini, F., Zhang, J., He, W., Dharmadhikari, A. V., Qu, C., et al. (2017) · JAMA Pediatrics · doi:10.1001/jamapediatrics.2017.3438 · Cited by 431
Willig, L. K., Petrikin, J. E., Smith, L. D., Saunders, C. J., Thiffault, I., Miller, N. A., Soden, S. E., Cakici, J. A., Herd, S. M., Twist, G., et al. (2015) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(15)00139-3 · Cited by 401
Self-citationStark, Z., Tan, T. Y., Chong, B., Brett, G. R., Yap, P., Walsh, M., Yeung, A., Peters, H., Mordaunt, D., Cowie, S., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.1 · Cited by 396
Epidemiologic Trends in Neonatal Intensive Care, 2007-2012
Harrison, W., & Goodman, D. (2015) · JAMA Pediatrics · doi:10.1001/jamapediatrics.2015.1305 · Cited by 373
Kingsmore, S. F., Cakici, J. A., Clark, M. M., Gaughran, M., Feddock, M., Batalov, S., Bainbridge, M. N., Carroll, J., Caylor, S. A., Clarke, C., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.08.009 · Cited by 352
Self-citationClark, M. M., Hildreth, A., Batalov, S., Ding, Y., Chowdhury, S., Watkins, K., Ellsworth, K., Camp, B., Kint, C. I., Yacoubian, C., et al. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aat6177 · Cited by 300
Self-citationWhole genome sequencing reveals that genetic conditions are frequent in intensively ill children
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., et al. (2019) · Intensive Care Medicine · doi:10.1007/s00134-019-05552-x · Cited by 251
Cited by
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Marwaha, S., Knowles, J. W., & Ashley, E. A. (2022) · Genome Medicine · doi:10.1186/s13073-022-01026-w · Cited by 359
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
Franck, L. S., Kriz, R. M., Rego, S., Garman, K., Hobbs, C., & Dimmock, D. (2021) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2021.05.045 · Cited by 59
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Metadata
- Authors
- Dimmock, D., Caylor, S., Waldman, B., Benson, W., Ashburner, C., Carmichael, J. L., Carroll, J., Cham, E., Chowdhury, S., Cleary, J., D’Harlingue, A., Doshi, A., Ellsworth, K., Galarreta, C. I., Hobbs, C., Houtchens, K., Hunt, J., Joe, P., Joseph, M., Kaplan, R. H., Kingsmore, S. F., Knight, J., Kochhar, A., Kronick, R. G., Limon, J., Martin, M., Rauen, K. A., Schwarz, A., Shankar, S. P., Spicer, R., Rojas, M. A., Vargas-Shiraishi, O., Wigby, K., Zadeh, N., & Farnaes, L.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2021-07
- Volume
- 108
- Issue
- 7
- Pages
- 1231-1238
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W3172870918
- Cited by
- 259
- References
- 32
- FWCI
- 22.54
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care. https://app.cochat.ai/papers/10.1016/j.ajhg.2021.05.008
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- Dimmock, D., Caylor, S., Waldman, B., Benson, W., Ashburner, C., Carmichael, J. L., Carroll, J., Cham, E., Chowdhury, S., Cleary, J., D’Harlingue, A., Doshi, A., Ellsworth, K., Galarreta, C. I., Hobbs, C., Houtchens, K., Hunt, J., Joe, P., Joseph, M., . . . Farnaes, L. (2021). 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. https://doi.org/10.1016/j.ajhg.2021.05.008
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
