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National Rapid Genome Sequencing in Neonatal Intensive Care
Daphna Marom1,2, Adi Mory1, Sivan Reytan-Miron1
1The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
JAMA Network Open
|February 22, 2024
Summary
Rapid trio genome sequencing (rtGS) is feasible and beneficial for critically ill neonates in public healthcare settings. This study supports rtGS implementation for improved neonatal care and equitable outcomes.
Area of Science:
- Genomics
- Neonatal Medicine
- Public Health
Background:
- Rapid trio genome sequencing (rtGS) is crucial for timely diagnosis in critically ill neonates.
- Equitable access to advanced genomic diagnostics is essential in neonatal intensive care units (NICUs).
Purpose of the Study:
- To assess the feasibility, diagnostic efficacy, and clinical utility of rtGS in Israeli NICUs.
- To establish rtGS as a standard diagnostic tool for neonates with suspected genetic conditions.
Main Methods:
- A prospective, multicenter cohort study involving 130 critically ill neonates across 25 NICUs in Israel.
- rtGS was performed with results expected within 10 days, followed by a secondary analysis.
- Diagnostic yield and clinical utility were evaluated using questionnaires for neonatologists.
Main Results:
- rtGS achieved a diagnostic efficacy of 50% for disease-causing variants and 11% for suspected VUS.
- The mean turnaround time for rapid results was 7 days.
- Genomic testing altered medical management in 22% of cases, enabling precision medicine or guiding care decisions.
Conclusions:
- rtGS is a feasible and diagnostically valuable tool for critically ill neonates within a public healthcare system.
- This study provides a foundation for integrating rtGS into routine neonatal care.
- Findings can inform similar genomic implementation studies in other public health systems.
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