SAN DIEGO, Oct. 27, 2021 /PRNewswire/ -- Illumina, Inc.
(NASDAQ: ILMN) today announced an agreement with Israel's Ministry of Health (MoH) for a pilot
program 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 program, 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 program 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.
Prof. 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 program
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 hospitalized 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 Prof. 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 identification of pathogenic variants
in non-coding regions as well as unprecedented detection of
disease-causing copy number 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 nonspecific
phenotypic presentation.
Illumina will provide Illumina® DNA PCR-Free Prep
reagents for library preparation of DNA and sequencing reagents for
375 WGS samples (125 trios) using the latest NovaSeqTM
6000 S1 v1.5 Reagent Kit.
About Illumina
Illumina is improving human health by unlocking the power of the
genome. Our focus on innovation has established us as the global
leader in DNA sequencing and array-based technologies, serving
customers in the research, clinical and applied markets. Our
products are used for applications in the life sciences, oncology,
reproductive health, agriculture and other emerging segments. To
learn more, visit www.illumina.com and connect with us
on Twitter, Facebook, LinkedIn, Instagram,
and YouTube.
Investors:
Brian Blanchett
858.291.6421
IR@illumina.com
Media:
Dr. Karen Birmingham
EMEA: +44 7500 105665
US: 646.355.2111
kbirmingham@illumina.com
View original
content:https://www.prnewswire.com/news-releases/illumina-supports-israels-national-program-to-accelerate-diagnoses-of-critically-ill-newborns-with-suspected-genetic-disease-301409199.html
SOURCE Illumina, Inc.