Abstract
Purpose
This study aimed to compare downstream utilization of medical services among critically
ill infants admitted to intensive care units who received rapid exome sequencing (ES)
and those who followed alternative diagnostic testing pathways.
Methods
Using propensity score–weighted regression models including sex, age at admission,
and severity indicators, we compared a group of 47 infants who underwent rapid ES
with a group of 211 infants who did not receive rapid ES. Utilization and cost indicators
were compared between cohorts using negative binomial models for utilization and two-part
models for costs.
Results
After controlling for patients’ sociodemographic and clinical characteristics, we
found no statistically significant difference in outpatient visits, hospitalizations,
intensive care unit or total length of stay, or length of stay–associated costs between
the cohorts at 12- or 26-month follow-up. Similarly, there was no evidence of higher
utilization or costs by the ES group when infants who died were removed from the analysis.
Conclusion
When examining utilization during and beyond the diagnostic trajectory, there is no
evidence that ES changes frequency of outpatient visits or use of in-hospital resources
in critically ill infants with suspected genetic disorders.
Keywords
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Article info
Publication history
Published online: May 26, 2022
Accepted:
April 6,
2022
Received in revised form:
April 5,
2022
Received:
January 6,
2022
Identification
Copyright
© 2022 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.
