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Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
Nathaly M Sweeney1,2,3, Shareef A Nahas4, Shimul Chowdhury4
1Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. nmsweeney@health.ucsd.edu.
Insights
Rapid whole genome sequencing (rWGS) diagnosed genetic diseases in 46% of critically ill infants with congenital heart disease (CHD). This approach identified genetic conditions more frequently than standard tests and reduced hospital spending.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- Congenital heart disease (CHD) is a leading cause of infant mortality, with genetic factors playing a significant role.
- Current genetic testing methods identify molecular diagnoses in only about 20% of infants with CHD.
- Rising healthcare costs for CHD patients necessitate more effective diagnostic and cost-saving strategies.
Purpose of the Study:
- To evaluate the clinical utility and cost-effectiveness of rapid whole genome sequencing (rWGS) in critically ill infants with structural CHD.
- To compare the diagnostic yield of rWGS against standard genetic testing (microarray and gene panels) in this population.
Main Methods:
- Retrospective review of rWGS data from infants under one year old with structural CHD admitted to a regional children's hospital.
- Comparison of diagnostic rates between rWGS and microarray ± gene panel testing.
- Analysis of hospital spending before and after rWGS implementation.
Main Results:
- rWGS identified genetic diseases in 46% of enrolled infants with structural CHD.
- rWGS demonstrated a fivefold higher diagnostic yield compared to microarray ± gene panel testing (43% vs. 10%).
- Hospital spending decreased significantly after blood collection for rWGS and further after result delivery, indicating cost-effectiveness.
Conclusions:
- Rapid whole genome sequencing is a valuable tool for diagnosing genetic conditions in critically ill infants with structural CHD.
- rWGS offers a higher diagnostic yield than conventional genetic tests and can lead to reduced healthcare costs.
- The implementation of rWGS in this cohort was feasible and provided timely, actionable information that positively impacted patient care and hospital spending.
Abstract:
Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions, molecular diagnoses are ascertained in only ~20% of cases using widely adopted genetic tests. Furthermore, cost of care for children and adults with CHD has increased dramatically. Rapid whole genome sequencing (rWGS) of newborns in intensive care units with suspected genetic diseases has been associated with increased rate of diagnosis and a net reduction in cost of care. In this study, we explored whether the clinical utility of rWGS extends to critically ill infants with structural CHD through a retrospective review of rWGS study data obtained from inpatient infants < 1 year with structural CHD at a regional children's hospital. rWGS diagnosed genetic disease in 46% of the enrolled infants. Moreover, genetic disease was identified five times more frequently with rWGS than microarray ± gene panel testing in 21 of these infants (rWGS diagnosed 43% versus 10% with microarray ± gene panels, p = 0.02). Molecular diagnoses ranged from syndromes affecting multiple organ systems to disorders limited to the cardiovascular system. The average daily hospital spending was lower in the time period post blood collection for rWGS compared to prior (p = 0.003) and further decreased after rWGS results (p = 0.000). The cost was not prohibitive to rWGS implementation in the care of this cohort of infants. rWGS provided timely actionable information that impacted care and there was evidence of decreased hospital spending around rWGS implementation.
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