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. 2023 Jan 4;10(1):106.
doi: 10.3390/children10010106.

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer

Caleb P Bupp  1   2 , Elizabeth G Ames  3 , Madison K Arenchild  4 , Sara Caylor  4 , David P Dimmock  4 , Joseph D Fakhoury  5   6 , Padmani Karna  7 , April Lehman  8 , Cristian I Meghea  7 , Vinod Misra  8 , Danielle A Nolan  9 , Jessica O'Shea  3 , Aditi Sharangpani  7 , Linda S Franck  10 , Andrea Scheurer-Monaghan  6   11
Affiliations

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer

Caleb P Bupp et al. Children (Basel). .

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'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'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.

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Conflict of interest statement

David Dimmock is employed by Creyon Bio, Inc.; reports previous consulting fees from Audentes and BioMarin; serves on a scientific advisory board for Taysha Gene Therapies; is an advisor to Pioneering Medicine VII, Inc.; and is an inventor on US patent 8718950B2 assigned to The HudsonAlpha Institute for Biotechnology. All other authors declare no conflict of interest. The content of this paper is solely the responsibility of the authors and does not necessarily represent the official views of the funding organizations. The funding organizations had no role in the design, preparation, review, or approval of this paper. This manuscript was exempted from journal requirement for written consent forms from participating patients who can be identified as no case details, personal information, or images of patients are included in this manuscript. This work was also exempted by IRB as quality improvement.

Figures

Figure 1
Figure 1
Timeline for Project Baby Deer.
Figure 2
Figure 2
Map of Michigan Project and Baby Deer Hospital Sites.
See this image and copyright information in PMC

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