Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.

Autor:	Dimmock D; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA. Electronic address: ddimmock@rchsd.org., Caylor S; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Waldman B; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Benson W; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Ashburner C; Valley Children's Hospital, Madera, CA 93636, USA., Carmichael JL; Valley Children's Hospital, Madera, CA 93636, USA., Carroll J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA; University of California, San Diego, San Diego, CA 92093, USA., Cham E; University of California, San Francisco, Benioff Children's Hospital Oakland, Oakland, CA 94609, USA., Chowdhury S; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Cleary J; Children's Hospital of Orange County, Orange, CA 92868, USA., D'Harlingue A; University of California, San Francisco, Benioff Children's Hospital Oakland, Oakland, CA 94609, USA., Doshi A; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA; University of California, San Diego, San Diego, CA 92093, USA., Ellsworth K; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Galarreta CI; Valley Children's Hospital, Madera, CA 93636, USA., Hobbs C; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Houtchens K; University of California, San Francisco, Benioff Children's Hospital Oakland, Oakland, CA 94609, USA., Hunt J; Children's Hospital of Orange County, Orange, CA 92868, USA., Joe P; University of California, San Francisco, Benioff Children's Hospital Oakland, Oakland, CA 94609, USA., Joseph M; Valley Children's Hospital, Madera, CA 93636, USA., Kaplan RH; Torrey Pines Health Group, Inc., San Diego, CA 92037, USA., Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Knight J; Children's Hospital of Orange County, Orange, CA 92868, USA., Kochhar A; Valley Children's Hospital, Madera, CA 93636, USA., Kronick RG; Torrey Pines Health Group, Inc., San Diego, CA 92037, USA; Department of Family Medicine and Public Health, University of California, San Diego, San Diego, CA 92093, USA., Limon J; Valley Children's Hospital, Madera, CA 93636, USA., Martin M; University of California, Davis and Davis Children's Hospital, Sacramento, CA 95817, USA., Rauen KA; University of California, Davis and Davis Children's Hospital, Sacramento, CA 95817, USA., Schwarz A; Children's Hospital of Orange County, Orange, CA 92868, USA., Shankar SP; University of California, Davis and Davis Children's Hospital, Sacramento, CA 95817, USA., Spicer R; Valley Children's Hospital, Madera, CA 93636, USA., Rojas MA; Valley Children's Hospital, Madera, CA 93636, USA., Vargas-Shiraishi O; Children's Hospital of Orange County, Orange, CA 92868, USA., Wigby K; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA; University of California, San Diego, San Diego, CA 92093, USA., Zadeh N; Children's Hospital of Orange County, Orange, CA 92868, USA., Farnaes L; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA.
Jazyk:	angličtina
Zdroj:	American journal of human genetics [Am J Hum Genet] 2021 Jul 01; Vol. 108 (7), pp. 1231-1238. Date of Electronic Publication: 2021 Jun 04.
DOI:	10.1016/j.ajhg.2021.05.008
Abstrakt:	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. (Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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