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

doi:10.1016/j.ajhg.2021.05.008

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

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

Authors

David Dimmock¹, Sara Caylor², Bryce Waldman², Wendy Benson², Christina Ashburner³, Jason L Carmichael³, Jeanne Carroll⁴, Elaine Cham⁵, Shimul Chowdhury², John Cleary⁶, Arthur D'Harlingue⁵, A Doshi⁴, Katarzyna Ellsworth², Carolina I Galarreta³, Charlotte Hobbs², Kathleen Houtchens⁵, Juliette Hunt⁶, Priscilla Joe⁵, Maries Joseph³, Robert H Kaplan⁷, Stephen F Kingsmore², Jason Knight⁶, Aaina Kochhar³, Richard G Kronick⁸, Jolie Limon³, Madelena Martin⁹, Katherine A Rauen⁹, Adam Schwarz⁶, Suma P Shankar⁹, Rosanna Spicer³, Mario Augusto Rojas³, Ofelia Vargas-Shiraishi⁶, Kristen Wigby⁴, Neda Zadeh⁶, Lauge Farnaes²

Affiliations

¹ Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA. Electronic address: ddimmock@rchsd.org.
² Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA.
³ Valley Children's Hospital, Madera, CA 93636, USA.
⁴ Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA; University of California, San Diego, San Diego, CA 92093, USA.
⁵ University of California, San Francisco, Benioff Children's Hospital Oakland, Oakland, CA 94609, USA.
⁶ Children's Hospital of Orange County, Orange, CA 92868, USA.
⁷ Torrey Pines Health Group, Inc., San Diego, CA 92037, USA.
⁸ 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.
⁹ University of California, Davis and Davis Children's Hospital, Sacramento, CA 95817, USA.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

California
Cohort Studies
Cost of Illness
Critical Care
Critical Illness / therapy*
Female
Hospitals, Pediatric
Humans
Infant
Infant, Newborn
Male
Medicaid
Precision Medicine*
Prospective Studies
Treatment Outcome
United States
Whole Genome Sequencing*

Grants and funding

UL1 TR002550/TR/NCATS NIH HHS/United States