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Illumina, Israel Ministry of Health to Pilot Genome Sequencing for Diagnosing Critically Ill Infants

NEW YORK – Illumina and Israel's Ministry of Health on Wednesday announced a pilot program to implement the use of whole-genome sequencing for diagnosing critically ill infants in neonatal intensive care who are suspected of having a genetic disorder.

Under their agreement, Tel-Aviv Sourasky Medical Center Genetics Institute will evaluate the use of WGS in routine care as a first-line diagnostic tool to enable faster identification of disease-causing genetic abnormalities.

"Evidence from other countries shows that whole-genome sequencing offers significant benefits for the diagnosis of suspected genetic disease in critically ill infants," Amihood Singer, head of Community Genetics at the Israel Ministry of Health, said in a statement. "Based on this international experience, our aim is to implement and provide this approach as a diagnostic assay in all neonatal intensive care wards, ideally replacing the routine diagnostic tests currently used."

Illumina is providing the program with reagents to sequence 125 trios, or 375 total samples, including its DNA PCR-free library preparation reagents and NovaSeq 6000 S1 v1.5 NGS reagent kits.

The pilot project is the latest study of WGS in children to receive support from Illumina. Last month, researchers from five US pediatric hospitals, in collaboration with Illumina, published results from the NICUSeq Randomized Time-Delayed Trial study in JAMA Pediatrics, suggesting that clinical WGS significantly outperformed standard of care practices in obtaining diagnoses and led to more changes in clinical management for the subjects.

Pacific Biosciences has also been partnering with children's hospitals in the US to study WGS in rare disease diagnostics.

Under the new program, a total of 18 participating hospitals will enroll newborns up to three months old who have been admitted to neonatal intensive care units with a suspected genetic disorder, as well as their biological parents.

The pilot study will begin this month and run for up to two years, following patients for 180 days after recruitment.