@article{c63ddb7821564cd3a1bb32f9bc7807a2,
title = "Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan{\textquoteright}s Project Baby Deer",
abstract = "The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation. Michigan{\textquoteright}s Project Baby Deer (PBD) is a multi-center collaborative effort that sought to break down barriers to access by offering rWGS to critically ill neonatal and pediatric inpatients in Michigan. The clinical champion team used a standardized approach with inclusion and exclusion criteria, shared learning, and quality improvement evaluation of the project{\textquoteright}s impact on the clinical outcomes and economics of inpatient rWGS. Hospitals, including those without on-site geneticists or genetic counselors, noted positive clinical impacts, accelerating time to definitive treatment for project patients. Between 95–214 hospital days were avoided, net savings of $4155 per patient, and family experience of care was improved. The project spurred policy advancement when Michigan became the first state in the United States to have a Medicaid policy with carve-out payment to hospitals for rWGS testing. This state project demonstrates how front-line clinician champions can directly improve access to new technology for pediatric patients and serves as a roadmap for expanding clinical implementation of evidence-based precision medicine technologies.",
keywords = "genetics, genomics, hospital medicine, medical technology and advancement, pediatrics, quality improvement, rapid whole genome sequencing, reimbursement",
author = "Bupp, {Caleb P.} and Ames, {Elizabeth G.} and Arenchild, {Madison K.} and Sara Caylor and Dimmock, {David P.} and Fakhoury, {Joseph D.} and Padmani Karna and April Lehman and Meghea, {Cristian I.} and Vinod Misra and Nolan, {Danielle A.} and Jessica O{\textquoteright}Shea and Aditi Sharangpani and Franck, {Linda S.} and Andrea Scheurer-Monaghan",
note = "Funding Information: This study was funded by the Helen DeVos Children{\textquoteright}s Hospital Foundation, Bronson Children{\textquoteright}s Hospital Foundation, and Rady Children{\textquoteright}s Institute for Genomic Medicine. Funding Information: The goals of PBD were to address barriers to protocol-driven equitable access to rWGS in clinical patient care for acutely ill neonatal and pediatric patients. The project also sought to create model systems for implementation, quality improvement monitoring, and dissemination of learnings. These goals were achieved because of a clinician-driven multi-stakeholder collaborative effort. Key factors contributing to the success of Michigan{\textquoteright}s PBD included project philanthropic funding as well as support from the state hospital association, hospital executives, administrators, frontline clinicians, and genomics experts. Local philanthropic support allowed two children{\textquoteright}s hospitals in Michigan to become early adopters of rWGS and the resultant positive experiences inspired a goal to offer access to this precision medicine diagnostic for clinicians caring for ill infants or children with uncertain diagnoses regardless of location in the state or type of insurance. Funding Information: Agreements were established for RCIGM to perform rWGS on samples sent from the participating Michigan hospitals. Procedures for rWGS ordering, sample acquisition and results reporting were performed accordingly to previously published workflows, with a preference for trio testing when ultra-rapid whole genome sequencing was requested. This included clinical features and severity of illness driving the decision to order testing, blood samples being used to obtain DNA for sequencing, and results being disclosed from the testing laboratory to ordering provider []. To reduce barriers to patient access to testing, PBD included an agreement that in the initial phase of the project the cost of the sequencing, interpretation, and analysis of genomics would be funded by a generous grant from the J. Willard and Alice S. Marriott Foundation. Additional funding for rWGS included the RCIGM rWGS Donor Restricted Fund, and an additional grant from the Michigan-based Children{\textquoteright}s Foundation. Some Michigan hospitals provided support for the uncovered costs of testing from their individual sites. This funding enabled broad access to rWGS for all patients meeting agreed inclusion criteria and allowed PBD champions to focus on the other aspects of rWGS implementation such as education and advocacy. Publisher Copyright: {\textcopyright} 2023 by the authors.",
year = "2023",
month = jan,
doi = "10.3390/children10010106",
language = "English",
volume = "10",
journal = "Children",
issn = "2227-9067",
number = "1",
}