Core Concepts
Rapid trio genome sequencing in critically ill neonates is feasible and beneficial for diagnosing genetic disorders.
Abstract
TOPLINE:
Study in Israel shows benefits of rapid trio genome sequencing in critically ill neonates.
METHODOLOGY:
Prospective study from Oct 2021 to Dec 2022 in Israeli medical genetics institutes and NICUs.
130 neonates suspected of genetic disorders enrolled, with results in 10 days.
TAKEAWAY:
50% diagnosed with disease-causing variants, 11% with unknown significance variants.
Mean turnaround time for reports was 7 days.
Genomic testing changed clinical management for 22% of neonates.
IN PRACTICE:
Genetic testing aids precision treatment and family planning.
SOURCE:
Study by Daphna Marom, MD, published in JAMA Network Open on Feb 22, 2024.
LIMITATIONS:
Voluntary participation may introduce referral bias.
Long-term impact on survival, growth, and development needs evaluation.
Bioinformatics tools have limitations, as seen in missed detection cases.
DISCLOSURES:
Study sponsored by Israeli Ministry of Health, Illumina, and Genomics Center.
Illumina provided reagents, tools, and editorial assistance.
Stats
Rapid trio genome sequencing diagnosed 50% of neonates with disease-causing variants.
Mean turnaround time for reports was 7 days.
Genomic testing led to a change in clinical management for 22% of neonates.
Quotes
"Genetic testing may identify patients who are candidates for precision medical treatment and inform family planning." - Study authors