Illumina Supports Nationwide Program across Belgium to Assess Whole Genome Sequencing for Developmental Disorders Diagnosis
June 01 2021 - 3:05AM
Business Wire
Study will explore clinical utility and health economic impact
of whole-genome sequencing
Today, Illumina, Inc. (NASDAQ:ILMN) announced an agreement with
the Belgian Genetic Centers to evaluate whole-genome sequencing
(WGS) for the diagnosis of patients with intellectual disabilities
(ID) and/or developmental disorders (DD) in routine care. The
study, run by the Belgian Resolve Rare Diseases group (BeSolveRD),
will also assess the health economic impact of WGS versus current
standards of care.
BeSolveRD will recruit 800 pediatric patients (neonates,
children or adolescents) with ID/DD, plus their parents, from all
eight Belgian Genetic Centers. Half of the patients and their
parents will be randomly assigned to WGS, the other half will be
given standard of care (whole exome sequencing/array). Illumina is
supporting the study by providing sequencing reagents. Results from
the study will inform reimbursement decisions regarding the use of
WGS in routine clinical practice.
“Whole-genome sequencing has proven to be a powerful approach to
identify the genetic causes in patients with rare developmental
disorders,” said Professor Joris Vermeesch, from the Center of
Human Genetics, UZ Leuven, Belgium, and principal investigator for
the study. “We are grateful to Illumina’s support of this
research.”
WGS is the most comprehensive method for rare 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 can help uncover underlying
etiology in patients and end the long search for a diagnosis which
can take several years.
“At Illumina, we are working tirelessly to end the long and
painful diagnostic odysseys for patients and their families,
helping avoid the unnecessary hospital referrals, and the
associated tests and procedures, so they may connect with other
families that have children with the same condition and pursue the
appropriate management,” said Phil Febbo, MD, Chief Medical Officer
at Illumina. “We are pleased to be working with the BeSolveRD group
to examine the value of WGS in this critically important
study.”
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.
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