Whole-genome sequencing (WGS) enables faster identification of disease-causing genetic abnormalities in infants improving clinical care and management.
Illumina supports Israel's national programme to accelerate diagnoses of critically-ill newborns with suspected genetic disease
Illumina announced an agreement with Israel's Ministry of Health (MoH) for a pilot programme to implement the use of whole-genome sequencing (WGS) in critically-ill infants suspected of having a genetic disorder in neonatal intensive care units (NICU). The programme, led by the Genetics Institute (Tel-Aviv Sourasky Medical Center), will evaluate the use of WGS in routine care as an effective first-tier diagnostic tool to enable faster identification of disease-causing genetic abnormalities in infants, aiding their clinical care and management.
The 18 hospitals participating in the programme will enroll newborns from day 0 to day 90 of life who are admitted to a NICU with a clinically suspected genetic disorder, along with their biological parents. The pilot will begin this month and enrollment will run for up to 24 months, with patients being followed for a total of 180 days after recruitment. This project will lead to the creation of national reimbursement for WGS as a diagnostic tool in hospitals across Israel.
"Evidence from other countries shows that whole-genome sequencing offers significant benefits for the diagnosis of suspected genetic disease in critically-ill infants. 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," said Dr Amihood Singer, Head of Community Genetics Department at the Ministry of Health, Israel.
Professor Hagit Baris-Feldman, Director of the Genetics Institute and Genomic Center at Tel Aviv Sourasky Medical Center, and former Chair of the Israeli Medical Geneticists Association, explained: "Israel is one of the leading countries in the world for genetic disease diagnosis and treatment so we are keen that the introduction of whole-genome sequencing will support rapid clinical decision-making – a very welcome step for critically-ill newborns and their families."
"We are proud to work with the Ministry of Health and the Tel Aviv Sourasky Medical Center to implement whole-genome sequencing to accelerate the diagnoses of critically-ill infants with suspected genetic disease," said Phil Febbo, MD, Chief Medical Officer at Illumina. "This programme will help speed the time to definitive diagnosis for these children thereby decreasing the uncertainty for their families, improving the management for the children, and reducing the need for unnecessary iterative tests and longer stays in the NICU."
"Time is critical for infants hospitalised in intensive care with suspected genetic disease that may be life-threatening, so the introduction of whole-genome sequencing as a decision-making tool would be most welcome," said Professor Arieh Riskin, Head of the Neonatology Society, Israel. "Neonatology is a demanding and challenging sub-specialty so being able to support clinicians in delivering a faster diagnosis and planning clinical management at an earlier stage for their young patients and their families will be game-changing."
WGS is the most comprehensive method for genetic disease testing and allows the identification of pathogenic variants in non-coding regions as well as unprecedented detection of disease-causing copy numbers and structural variants. WGS accelerates time to diagnosis for patients with suspected genetic diseases, helping inform optimal management options beyond those based solely on conventional approaches such as a nonspecific phenotypic presentation.
Illumina will provide Illumina® DNA PCR-Free Prep reagents for library preparation of DNA and sequencing reagents for WGS samples using the latest NovaSeqTM 6000 S1 v1.5 Reagent Kit.
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