Rapid Whole-Genome Sequencing as a First-Line Test Is Likely to Significantly Reduce the Cost of Acute Care in a Private Payer System.

Background: Genetic disorders are a leading contributor to morbidity and mortality in neonatal and pediatric intensive care units. Rapid whole-genome sequencing (rWGS) has demonstrated improved clinical outcomes and reduced costs of care. The objective of this study was to predict the effect of rWGS on healthcare spending if implemented as a first-line diagnostic test in the Blue Shield of California (BSC) private payer system.

Methods: This study applied private payer reimbursement methods and rates to clinical outcomes of rWGS on pediatric inpatient care as determined by a previous study of publicly insured infants in Project Baby Bear. BSC patients who were clinically similar to the Project Baby Bear cohort were identified by matching on diagnosis-related group and severity of illness. Payment data from these BSC patients was used to estimate the financial impact of clinical outcomes resulting from rWGS testing in a commercially insured pediatric population.

Results: The analysis estimated a reduction of $5.8 million to $7.8 million in inpatient payments due to an estimated 457 to 592 avoided inpatient days due to rWGS results. With an estimated cost of sequencing at $2.7 million for the entire cohort (n = 184), the financial impact of rWGS as a first-tier test in the intensive care unit resulted in estimated net savings to BSC of $16 730 to $28 061 per patient sequenced.

Conclusions: Implementation of rWGS using the protocols established in Project Baby Bear is likely to result in significant reductions in healthcare spending among privately insured patients.