AI Article Synopsis
- The study aimed to evaluate the effectiveness of trio-rapid genome sequencing (which includes the infant and their biological parents) versus proband-only exome sequencing in diagnosing critically ill infants from 2019.
- Out of 202 infants, it was found that trio-rapid genome sequencing had a higher diagnostic yield (36.6%) compared to proband-only sequencing (20.3%) and was significantly faster, with a median turnaround time of 7 days compared to 20 days.
- The findings also had a practical impact, as 21.6% of infants experienced changes in clinical management based on the results, and 32.4% were referred to new specialists after diagnosis.
Article Abstract
Objectives: To determine the diagnostic and clinical utility of trio-rapid genome sequencing in critically ill infants.
Design: In this prospective study, samples from critically ill infants were analyzed using both proband-only clinical exome sequencing and trio-rapid genome sequencing (proband and biological parents). The study occurred between April 2019 and December 2019.
Setting: Thirteen member hospitals of the China Neonatal Genomes Project spanning 10 provinces were involved.
Participants: Critically ill infants (n = 202), from birth up until 13 months of life were enrolled based on eligibility criteria (e.g., CNS anomaly, complex congenital heart disease, evidence of metabolic disease, recurrent severe infection, suspected immune deficiency, and multiple malformations).
Interventions: None.
Measurements And Main Results: Of the 202 participants, neuromuscular (45%), respiratory (22%), and immunologic/infectious (18%) were the most commonly observed phenotypes. The diagnostic yield of trio-rapid genome sequencing was higher than that of proband-only clinical exome sequencing (36.6% [95% CI, 30.1-43.7%] vs 20.3% [95% CI, 15.1-26.6%], respectively; p = 0.0004), and the average turnaround time for trio-rapid genome sequencing (median: 7 d) was faster than that of proband-only clinical exome sequencing (median: 20 d) (p < 2.2 × 10-16). The metagenomic analysis identified pathogenic or likely pathogenic microbes in six infants with symptoms of sepsis, and these results guided the antibiotic treatment strategy. Sixteen infants (21.6%) experienced a change in clinical management following trio-rapid genome sequencing diagnosis, and 24 infants (32.4%) were referred to a new subspecialist.
Conclusions: Trio-rapid genome sequencing provided higher diagnostic yield in a shorter period of time in this cohort of critically ill infants compared with proband-only clinical exome sequencing. Precise and fast molecular diagnosis can alter medical management and positively impact patient outcomes.
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| http://dx.doi.org/10.1097/CCM.0000000000005052 | DOI Listing |
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