Efficacy of universal genome sequencing in infant extracorporeal membrane oxygenation
Nicholas R Carr1,2, Makenzie L Fulmer3, Jennifer Rumpel4
1Intermountain Health, Provo, UT, USA. Nicholas.carr@hsc.utah.edu.
Objective:
To evaluate the feasibility and diagnostic yield of universal genome sequencing (GS) in infants receiving extracorporeal membrane oxygenation (ECMO).
Study Design:
Prospective multicenter study across eight Children's Hospital Neonatal Consortium sites (October 2021-August 2023). Infants initiated on ECMO were enrolled for GS regardless of suspected genetic disease. Demographics, ECMO indications, and results from standard-care testing and study-based GS were analyzed.
Results:
Twenty-five infants were enrolled. Primary ECMO indications included congenital diaphragmatic hernia (28%), meconium aspiration syndrome (24%), and primary respiratory failure (20%). GS identified pathogenic or likely pathogenic variants in 6/25 infants (24%), including three cytogenetic-confirmed diagnoses and three molecular diagnoses identified only by GS. Variants of uncertain significance were identified in 44% of infants, while 32% had negative results.
Conclusion:
Universal GS during ECMO is feasible and yields a relatively high rate of clinically relevant diagnoses, supporting further assessment of the integration of genomic testing into ECMO care pathways.
