Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’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’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.

Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing

“…The high yield of broad exome sequencing that we report in critically ill adults can be put in the context of a number of recent similar studies of broad exome/genome sequencing in the critically ill pediatric and neonatal patient populations that have reported diagnostic rates of 21-38%. 2–4,9,10 The diagnostic yield that we report here is essentially the same as those reported in these studies, suggesting that critical illness is a strong predictor of Mendelian disease across the life span. Importantly, many of these studies found significant cost savings and important changes in management due to rapid exome/genome sequencing.…”

“…[2][3][4][5][6][7][8] Expansion of rapid genomic tes1ng to all cri1cally ill pediatric pa1ents replicates these clinical and financial implica1ons. [9][10][11] However, despite the well-documented benefits in pediatric popula1ons, genomic tes1ng is not rou1nely offered during the care of cri1cally ill adults.…”

Wales Infants’ and childreN’s Genome Service (WINGS): providing rapid genetic diagnoses for unwell children

“…WINGS has demonstrated that it is possible to provide reliable rWGS for acutely unwell infants and children in the NHS. WINGS provides timely diagnoses within a time frame that can alter patient care, as reported in other smaller healthcare or research settings 3 20 23 24. The overall and phenotype-specific diagnostic yields are similar to previously published reports 1–3 6 25 26.…”

“…Also, although it is clear there has been a direct effect on acute clinical management for some patients, the report has not locally assessed the impact on patient care or morbidity, or the economic benefits of rWGS in Wales. This is because previous research-based reports have already demonstrated the benefits of rWGS for patients and their families3 23 24 32 and it was outside the scope of this clinical review. Additionally, economic analyses often require large cohorts, making them more difficult in the NHS.…”

“…Additionally, economic analyses often require large cohorts, making them more difficult in the NHS. Previous research-based economic analyses have shown that rWGS can reduce inpatient costs and shorten hospital stays 19 23 24 33 34. Despite these limitations, patients who received a genetic diagnosis through WINGS received information about their diagnosis and genetic counselling about recurrence risks.…”