OBJECTIVES

Nicklaus Children’s Hospital is one of the nation’s first to offer rapid whole-genome sequencing (rWGS) to critically ill pediatric patients in intensive care units. We evaluated the cost-effectiveness of rWGS (N=73) compared to the standard genetic testing (SGT) (N=337) as part of the hospital project called Project Baby Manatee.

METHODS

We conducted a retrospective cohort study using the March 2018-June 2020 Nicklaus Children’s Hospital electronic health records. Patients were followed for at least 15 days, from the day the test was performed. In this observational-based economic evaluation conducted according to a payer perspective, the outcomes were total costs in 2020 US $, overall, diagnostic yield (DY), survival (OS), incremental cost-effectiveness ratio (ICER), and net monetary benefit (NMB). These estimations were adjusted for selection bias and right censoring using an augmented inverse probability of treatment weighting. We conducted uncertainty analyses using bootstrapping, with results presented in terms of cost-effectiveness acceptability curves.

RESULTS

Considering DY as an effectiveness measure, rWGS dominated SGT. Considering OS as an effectiveness measure, rGWS was cost-effective compared to SGT at a daily willingness to pay threshold of $137 (ICER_standard_VS_rWGS= 1,012.81/Day lived). The NMBs for rWGS were $114,396.75 and $98,899.82 when considering DY and OS, respectively. These results were robust to sampling uncertainty. Overall, the implementation of rWGS in Project Baby Manatee led to an estimated $6.34 million in healthcare cost savings.

CONCLUSIONS

Going forward, rWGS is well-positioned to be a first-tier diagnostic test for critically ill children with diseases of unknown cause.