SAN DIEGO, Sept. 27, 2021 /PRNewswire/ -- Illumina, Inc.
(NASDAQ: ILMN) scientists, together with investigators from
five children's hospital across the US, have co-authored a study
published today in JAMA Pediatrics reporting
findings from the NICUSeq Randomized Time-Delayed Trial.
Results show that use of clinical whole-genome sequencing (cWGS)
outperforms usual care by two-fold both in terms of diagnostic
efficacy and change of clinical management of acutely ill newborns
suspected of having a genetic condition. The data support the
widespread adoption and implementation of cWGS for newborns in
crisis.
Children's Hospital of Philadelphia, University
of Nebraska Medical Center (including the Munroe-Meyer
Institute) and in partnership with Children's Hospital &
Medical Center in Omaha,
Children's Hospital of Orange
County in conjunction with Rady Children's Institute for
Genomic Medicine (San Diego),
Washington University/St. Louis
Children's Hospital and Le Bonheur Children's Hospital, the
University of Tennessee Health Science
Center (Memphis, TN) took part in
study which enrolled a racially and ethnically diverse, and
geographically distributed, population of acutely ill infants.
The patient population of 354 infants was randomized to either
receive cWGS within 15 days (Early arm) or 60 days (Delayed arm) of
admission, with a total observation period of 90 days. In both arms
of the study, access to cWGS doubled the proportion of patients
receiving a precision diagnosis of their condition and a change of
clinical management.
"The NICUSeq study has shown us the importance of large scale
genetic testing in newborns, leading to early diagnosis of genetic
conditions and helping to inform decision making for physicians and
families," said Chester Brown, MD,
PhD, Genetics division chief, Le Bonheur Children's Hospital and
the University of Tennessee Health
Science Center (UTHSC). "Having this type of genetic information
provides immediate and sustainable benefits that have lifelong
value, providing a genetic 'report card' that can be used to help
direct medical care throughout life. We are proud that Le Bonheur
Children's Hospital and UTHSC were able to contribute to this
important effort to improve medical care for babies of the greater
Memphis community."
Importantly, the study mirrored the real-world variability of
infant care, and as such shows that whole-genome sequencing
implementation is practical and superior to current diverse usual
care practices, according to the study investigators. "This study
demonstrates that whole genome sequencing for infants with a
suspected genetic disease is possible in diverse clinical sites and
patient populations," said Ryan
Taft, PhD, Vice President of Scientific Research at
Illumina. "This brings us one important step closer to a precision
diagnosis for every child that needs one."
"The clear and important link between establishing a diagnosis
and improved care management lends much weight to the adoption of
cWGS as a first-tier diagnostic test in critically-ill newborns,"
said Ian Krantz MD, Professor of
Pediatrics at the Children's Hospital of Philadelphia.
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
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Investors:
Brian
Blanchett
1 858.291.6421
ir@illumina.com
Media:
Dr. Karen
Birmingham
EMEA: +44 7500 105665
US: 1 646.355.2111
kbirmingham@illumina.com
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SOURCE Illumina, Inc.