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

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.

Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre

“…The early use of genomic sequencing strategies in the critically unwell neonate has shown promise in a number of studies [ 13 , 14 ]. While there have been impressive diagnostic yields demonstrated in studies to date, cost-effectiveness has only been demonstrated in a PICU and not a NICU population [ 15 ]. Ongoing trials as part of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) consortium are being performed to establish the benefits of genomic sequencing in newborns as well as the cost effectiveness of such a strategy [ 16 ].…”

Better and faster is cheaper

“…In addition to binary outcomes like mortality, a handful of studies have attempted to quantify the effects of genomic sequencing on patient quality‐adjusted life years (QALYs) (Farnaes et al, 2018; Sanford Kobayashi et al, 2022; Schofield et al, 2019). The QALY is generally preferred over other outcome measures because it combines both the longevity and quality of life attributable to the studied intervention into a one number that can be used for comparison between studies (Weinstein et al, 2009).…”

“…The QALY is generally preferred over other outcome measures because it combines both the longevity and quality of life attributable to the studied intervention into a one number that can be used for comparison between studies (Weinstein et al, 2009). In one cost utility analysis of a PICU cohort that underwent rWGS, a total of 12.1 QALYs were gained from seven patients modeled (Sanford Kobayashi et al, 2022). In Australia, a cohort of 80 infants who received exome sequencing was determined to have gained 36 QALYs as a result when cascade testing and parent reproductive outcomes were included in the analysis (Schofield et al, 2019).…”

“…Recent data in multiple countries now exists supporting the notion that, despite its high price tag, genomic sequencing does in fact reduce costs of care (D. Dimmock et al, 2021; Farnaes et al, 2018; Stark et al, 2017, 2019). The first cost‐effectiveness studies were done in countries such as Australia, which have single payer systems, but even in the more complex system in the United States, data now exist that also show cost‐effectiveness (Chung et al, 2020; D. Dimmock et al, 2021; Farnaes et al, 2018; Hayeems et al, 2017; Sanford Kobayashi et al, 2022; Stark et al, 2017, 2019). Studies in the United States include a cohort of 42 sequenced infants in one NICU, with an estimated overall average cost savings $19,000 per infant sequenced (Farnaes et al, 2018).…”

“…Thereafter, a multisite collaboration, Project Baby Bear, provided rWGS for 184 critically ill children less than 1 year old and found a net savings of $12,041−$15,786 per infant sequenced (D. Dimmock et al, 2021). An economic analysis of older children in a US PICU found a net cost of rWGS of $54,554, but a simultaneous gain of 12.1 QALYs (a cost of $4509 per QALY gained), and the authors concluded that this was an acceptable cost‐per‐QALY‐gained, as the benchmark for an intervention that is worth an investment is typically $50,000 per QALY in the United States (Grosse, 2008; Neumann et al, 2014; Sanford Kobayashi et al, 2022). Outside the United States, cost savings was estimated for 21 critically ill children who underwent rapid exome sequencing in Australia, and found to be AU$543,178 (US$424,101), with the savings resulting from avoidance procedures, tests, and reduced length of hospital stay (Stark et al, 2018).…”