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

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

doi:10.1016/j.ajhg.2021.05.008

Cited by 162 publications

(236 citation statements)

References 32 publications

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“…Routine genome sequencing of newborns is often cited as an aspirational component of precision healthcare. It is being studied in clinical research settings123 and, conceptually, is an extension of screening newborns for genetic diseases. Today’s newborn screening involves analysing metabolites, but a broader implementation that includes genome sequencing will eventually happen.…”

Section: Yes—leslie Biesecker Eric Green Teri Manolio and Ben Solomonmentioning

confidence: 99%

Should all babies have their genome sequenced at birth?

Biesecker

Green

Solomon

et al. 2021

BMJ

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Section: Yes—leslie Biesecker Eric Green Teri Manolio and Ben Solomonmentioning

confidence: 99%

Should all babies have their genome sequenced at birth?

Biesecker

Green

Solomon

et al. 2021

BMJ

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“…to neonatal intensive care unit or pediatric intensive care unit admission and delays in ordering testing." 9 However, fidelity to this protocol was abysmal. Over the study period, there were 4300 babies younger than 1 year of age admitted to an intensive care unit (ICU).…”

Section: Editorialsmentioning

confidence: 99%

“…7 In this volume of The Journal, Franck et al had an opportunity to study the rollout of an innovative program to offer genome sequencing as a first-line test for babies admitted to intensive care units in 5 California hospitals. 8,9 Their qualitative study was designed to understand the psychological and organizational factors that led to uptake of this technology.…”

mentioning

confidence: 99%

Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children

Lantos

2021

The Journal of Pediatrics

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with HRQL. Also important is the exploration of methods for measuring HRQL with minimal participant burden to allow frequently repeated measurements on large samples. Of note, the National Institutes of Health-sponsored Environmental Influences on Child Health Outcomes is collecting data on a construct termed positive child health, which is based on several short questionnaires and accounts for biological, functional, behavioral, and/or experiential assets, 16 thereby aligning with the Institute of Medicine's definition of health as children's ability and potential to (1) develop and realize their potential; (2) satisfy their needs; and (3) develop the capacities that allow them to interact successfully with their biological, physical, and social environments." 13 The promise of this field of investigation is a better understanding of the life course of those born prematurely from their own perspectives, providing guidance and hope, for clinicians, policymakers, and families. n

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“…To achieve rWGS coverage policy determinations, payors frequently raise concern related to the associated cost. To buttress the proposition that timely diagnosis may decrease overall costs by optimizing clinical management, several studies have recently demonstrated cost-effectiveness for early utilization of rWGS or rapid whole exome sequencing (rWES) compared to traditional diagnostic investigations ( 9 – 12 ). In 2018, Stark et al estimated the cost savings in a group of 21 critically ill children who received a diagnosis by rWES to be AU$543,178 (US$424,101), due to avoidance of planned tests and procedures and reduced length of stay ( 13 ).…”

Section: Introductionmentioning

confidence: 99%

Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit

et al. 2022

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The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness evaluation of rWGS in the ICU outside of the neonatal age group is lacking. In this study, we examined cost data retrospectively for a cohort of 38 children in a regional pediatric ICU (PICU) who received rWGS. We identified seven of 17 patients who received molecular diagnoses by rWGS and had resultant changes in clinical management with sufficient clarity to permit cost and quality adjusted life years (QALY) modeling. Cost of PICU care was estimated to be reduced by $184,846 and a total of 12.1 QALYs were gained among these seven patients. The total cost of rWGS for patients and families for the entire cohort (38 probands) was $239,400. Thus, the net cost of rWGS was $54,554, representing $4,509 per QALY gained. This quantitative, retrospective examination of healthcare utilization associated with rWGS-informed medicine interventions in the PICU revealed approximately one-third of a QALY gained per patient tested at a cost per QALY that was approximately one-tenth of that typically sought for cost-effective new medical interventions. This evidence suggests that performance of rWGS as a first-tier test in selected PICU children with diseases of unknown etiology is associated with acceptable cost-per-QALY gained.

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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

Cited by 162 publications

References 32 publications

Should all babies have their genome sequenced at birth?

Should all babies have their genome sequenced at birth?

Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children

Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit

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