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

Erica Sanford Kobayashi,Shimul Chowdhury,Jeffrey J Gold,Wendy Benson,Bryce Waldman,Stephen F Kingsmore,Katherine Perofsky,Courtney D Thornburg,Chelsea Gatcliffe,Nicole G Coufal,Nanda Ramchandar,Lauge Farnaes,Seema Rego,Ami Doshi,Benjamin Briggs,Elizabeth Ingulli ,Erika T Allred ,Charlotte A Hobbs ,Branden Engorn ,David Dimmock

doi:10.3389/fped.2021.809536

Abstract

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.

Highlights

Rapid whole genomic sequencing is transforming the diagnosis of single locus genetic disease among inpatient children
Genetic disorders are a leading cause of mortality in the neonatal intensive care unit (NICU) and pediatric ICU (PICU), and affected children are disproportionally admitted to intensive care units [32,33,34,35,36,37]
Rapid whole genomic sequencing for diagnosis of monogenic disorders is becoming increasingly applicable to critical care, as evidence continues to demonstrate that timely deployment of precision medicine leads to optimal clinical care [1, 2, 38,39,40,41]

Summary

Introduction

Rapid whole genomic sequencing (rWGS) is transforming the diagnosis of single locus genetic disease among inpatient children. Recent technological advances enable return of results in less than one day, which enables timely provision of optimal care broadly for critically ill patients, effecting immediate changes in the trajectory of their clinical management [1,2,3,4,5]. Mounting evidence supports the diagnostic and clinical utility of rWGS and was further substantiated by a Genome Sequencing Cost in PICU recent meta-analysis [6]. Though earlier studies were focused primarily on infants in the neonatal intensive care unit (NICU), recent studies examining children outside of the neonatal period in the pediatric intensive care unit (PICU) have yielded similar diagnostic and clinical utility rates [5, 7, 8]. Seventy-six percent of diagnoses affected clinical management of the patient [5]

Methods

Results

Conclusion