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

• DOI: 10.1016/j.ajhg.2021.05.008
• Publication Date: 2021-06-04T14:32:04Z
• Authors: 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. Galar...; 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-Shi...; Kristen Wigby; Neda Zadeh; Lauge Farnaes
• Keywords: Male; 0301 basic medicine; Comparative Effectiveness Research; pediatrics; Critical Care; Critical Illness; Clinical Trials and Supportive Activities; rare disease; QUALY; Medical and Health Sciences; California; quality improvement; Cohort Studies; 03 medical and health sciences; Cost of Illness; Clinical Research; genetic disease; neonatal intensive care; Humans; Prospective Studies; quality-adjusted life years; Precision Medicine; Pediatric; Genetics & Heredity; Whole Genome Sequencing; Medicaid; Infant, Newborn; Infant; Health Services; Biological Sciences; Newborn; Hospitals, Pediatric; Hospitals; United States; 3. Good health; critical care; Good Health and Well Being; Treatment Outcome; comparative effectiveness research; MediCal; real-world care; health outcomes research; Female

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.