Illumina Launches TruSight Software Suite to Accelerate the Identification of Genetic Diseases
July 08 2020 - 9:01AM
Business Wire
Whole-genome sequencing offers the ability to
reduce pediatric diagnostic odysseys which cost at least $14
billion annually in the U.S.
Illumina, Inc. (NASDAQ: ILMN) is bringing turn-key data analysis
solutions to accelerate and facilitate the adoption of whole-genome
sequencing with the launch of the TruSight™ Software Suite.
TruSight Software delivers ready-made infrastructure to realize the
full potential of whole-genome sequencing for rare genetic
diseases. This new offering enables sample-to-report analysis for
genetic disease testing, giving customers an integrated solution
that focuses on one of the most challenging parts of the workflow,
empowering researchers to go from 5 million variants to a small
handful, in a rapid, scalable way. TruSight Software will make it
easier for people to benefit from the valuable insights enabled by
genomic sequencing.
“The future of pediatric medicine will include whole genome
sequencing for suspected genetic disorders,” said William Morice,
M.D., Ph.D., President, Mayo Clinic Laboratories, and Department
Chair, Laboratory Medicine and Pathology at Mayo Clinic in
Rochester, MN. “Enabling laboratories and physicians with access to
efficient, clinical-grade whole-genome sequencing solutions is
essential.”
“This combination of products will set the standard for scalable
and swift interpretation of genomic information, enabling
whole-genome sequencing to become the standard of care in rare
diseases,” said Ryan Taft, Vice President of Scientific Research at
Illumina. “By enabling users to quickly sift through millions of
variants to find an answer, we will make it easier for rare disease
patients to benefit from valuable genomic insights.”
More than 250 million people are affected by rare genetic
diseases globally. These conditions can be debilitating with
families frequently spending upwards of five years being referred
from doctor to doctor, enduring a diagnostic odyssey often fraught
with misdiagnoses, inappropriate treatments and procedures, all in
search for an underlying cause. These diagnostic odysseys are
expensive. In the U.S. alone it is estimated that pediatric genetic
diseases cost at least $14 billion every year. And, in some cases
it’s a race against time, where an early diagnosis can dramatically
improve patient outcomes – potentially even helping a young child
live a healthier, fuller life. As one of the most comprehensive
genetic tests available, whole-genome sequencing offers the
potential to shorten the time and reduce the cost of identifying
these genetic conditions, and the most likely to end the diagnostic
odyssey.
The key to realizing the promise of precision medicine relies on
accurate and specific diagnosis. Each human genome comprises more
than 3 billion nucleotides of which roughly 5 million variations
are unique to each individual. A slight modification of one or two
of these variations can mean the difference between being healthy
and having a serious genetic disease. Finding these critical few
variants is currently the most challenging technical obstacle for
genetic testing. TruSight Software Suite is a powerful compilation
of tools and innovation thoughtfully designed to drive through the
noise to find those disease-causing variants.
TruSight Software Suite, developed in collaboration with Mayo
Clinic and other key opinion leaders, reduces the interpretation
bottleneck from as much as weeks to as little as hours. TruSight
Software Suite, when combined with Illumina's NovaSeq™ 6000 and
Illumina DNA PCR-Free Prep, offers a complete whole-genome
sequencing analysis workflow designed to help evaluate, visualize,
curate and report on rare variants.
To learn more, click here.
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 follow @illumina.
Use of forward-looking statements
This release contains forward-looking statements that involve
risks and uncertainties, including the expectation for lower costs
related to the storing and managing of genomic data costs. Among
the important factors that could cause actual results to differ
materially from those in any forward-looking statements are: (i)
challenges inherent in developing and launching new products and
services; (ii) our ability to deploy new products, services, and
applications, and to expand the markets for our technology
platforms; and (iii) the acceptance by customers of our newly
launched products, together with other factors detailed in our
filings with the Securities and Exchange Commission, including our
most recent filings on Forms 10-K and 10-Q, or in information
disclosed in public conference calls, the date and time of which
are released beforehand. We undertake no obligation, and do not
intend, to update these forward-looking statements, to review or
confirm analysts’ expectations, or to provide interim reports or
updates on the progress of the current quarter.
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