Diagnostic utility of rapid sequencing in critically ill infants: a systematic review and meta-analysis

Abstract

Background: Genetic disorders are a major cause of death in critically ill infants. Several studies have assessed the diagnostic yield of rapid genomic sequencing in critically ill infants. This meta-analysis aimed to summarize the diagnostic utility of rapid genomic sequencing in critically ill infants.

Methods: PubMed, Scopus, Web of Science, and Cochrane Library, were searched before 1 July 2022. Studies reported diagnostic rate of rapid genomic sequencing in critically ill infants were selected. Two authors screened and extracted data regarding the method of genetic test, total number of patients, and number of diagnosed patients.

Results: Twenty-three studies, comprising 1567 critically ill infants were included in the meta-analysis. In the overall analysis, the pooled diagnostic utility of rapid genomic sequencing was 0.42 (95% CI: 0.37-0.49, I² = 79%, P < 0.1). Moreover, the pooled diagnostic rates of rapid whole-exome and rapid whole-genome sequencing were 0.50 (95% CI: 0.41-0.61; I² = 74%; P < 0.01) and 0.37 (95% CI: 0.30-0.46; I² = 77%; P < 0.01), respectively. Sensitive analysis showed that the results were stable in the overall analysis. Additionally, publication bias was not observed in the overall analysis.

Conclusions: This meta-analysis proved that rapid genomic sequencing has a good diagnostic utility for critically ill infants.

Keywords: Rapid sequencing; critically ill infant; exome sequencing; genome sequencing; meta-analysis.