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. 2021 Jul 1;108(7):1231-1238.
doi: 10.1016/j.ajhg.2021.05.008. Epub 2021 Jun 4.

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

David Dimmock  1 , Sara Caylor  2 , Bryce Waldman  2 , Wendy Benson  2 , Christina Ashburner  3 , Jason L Carmichael  3 , Jeanne Carroll  4 , Elaine Cham  5 , Shimul Chowdhury  2 , John Cleary  6 , Arthur D'Harlingue  5 , A Doshi  4 , Katarzyna Ellsworth  2 , Carolina I Galarreta  3 , Charlotte Hobbs  2 , Kathleen Houtchens  5 , Juliette Hunt  6 , Priscilla Joe  5 , Maries Joseph  3 , Robert H Kaplan  7 , Stephen F Kingsmore  2 , Jason Knight  6 , Aaina Kochhar  3 , Richard G Kronick  8 , Jolie Limon  3 , Madelena Martin  9 , Katherine A Rauen  9 , Adam Schwarz  6 , Suma P Shankar  9 , Rosanna Spicer  3 , Mario Augusto Rojas  3 , Ofelia Vargas-Shiraishi  6 , Kristen Wigby  4 , Neda Zadeh  6 , Lauge Farnaes  2
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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

David Dimmock et al. Am J Hum Genet. .

Abstract

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.

Keywords: MediCal; Medicaid; QUALY; comparative effectiveness research; critical care; genetic disease; health outcomes research; neonatal intensive care; pediatrics; quality improvement; quality-adjusted life years; rare disease; real-world care.

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Conflict of interest statement

D.D. reports previous consulting fees from Audentes, Biomarin, Ichorion, and Complete Genomics. D.D. serves on a scientific advisory board for Taysha Gene Therapies. D.D. is an inventor on U.S. patent 8718950B2 assigned to The HudsonAlpha Institute for Biotechnology. The remaining authors declare no competing interests.

Figures

Figure 1
Figure 1
Inclusion and exclusion criteria Criteria used to identify acutely ill infants without a clear non-genetic etiology.
Figure 2
Figure 2
Project enrollment and outcomes Enrollment and testing outcomes for Project Baby Bear.
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