- Genomics England select QIAGEN’s Clinical Knowledge Base to
power first-of-its-kind whole-genome sequencing study for
newborns
- National study will screen newborns for more than 200
treatable conditions to help identify appropriate treatments that
are accessible for all in England
- Clinically relevant variant content from QIAGEN will be used
to support evidence-based variant interpretation and reporting
results
QIAGEN (NYSE: QGEN; Frankfurt Prime Standard: QIA) today
announced that it has partnered with Genomics England to support
the delivery of the Generation Study.
This first-of-its-kind initiative aims to sequence the genomes
of 100,000 newborns in England to screen for over 200 selected
conditions, enabling earlier diagnosis and treatment of rare
conditions.
Through its Clinical Knowledge Base, QIAGEN will be the only
company to provide clinically relevant variant content for genes
included in the point-of-care sequencing test. Now that testing has
begun, this content will be used to support rapid variant
interpretation and reporting of sequencing results.
The Generation Study will sequence and analyze the genomes of
100,000 newborns for a set of actionable genetic conditions that
may affect their health in early years. Officially launched in
October 2024, the national study will screen newborns for more than
200 treatable conditions that affect approximately 3,000 babies
born each year in the UK.1
“When it comes to screening newborns to identify babies at risk
for developing a rare disease, there is no room for error,” said
Dominic John, Head of QIAGEN Digital Insights. “We are pleased to
be the only company to partner with Genomics England in this
landmark program to provide nationwide access to the power of
whole-genome sequencing for newborns in the United Kingdom,
potentially improving the health of thousands of families.”
The study will identify conditions such as Metachromatic
leukodystrophy (MLD) in babies sooner and could enable hundreds to
benefit from earlier diagnosis and treatment that could help slow
the progression of rare conditions and even extend their lives.
“Variant interpretation is really important for the Generation
Study, which aims to identify more than 200 conditions in otherwise
asymptomatic babies, where symptoms might not present until later
in childhood,” said Dr Ellen Thomas, Chief Medical Officer,
Genomics England. “By providing expert-curated content for every
gene being tested in the study, QIAGEN are supporting our ability
to safely return results to participants.”
The QIAGEN Clinical Knowledge Base offers comprehensive genomic
content built on expert manual curation. Rather than examining and
interpreting each variant in real-time against the evidence found
in the medical literature, newborn sequencing benefits greatly from
pre-curated knowledge which is readily comparable to each newborn’s
DNA.
For over two decades, QIAGEN has brought together the power of
hundreds of physicians and bioinformatics expert curators with
manual and computational methods to efficiently curate, annotate
and analyze complex clinical evidence that are essential for
accurate and high-quality reporting.
For the Generation Study, QIAGEN curators provided comprehensive
evidence for every variant seen across the 200 conditions included
in the study. This focus on human effort, review and certification
is critical.
The QIAGEN Clinical Knowledge Base contains biological content
from more than 40 databases that has been curated for clinical
relevance. It has been used by researchers, clinicians, and
pharmaceutical companies for more than 25 years, and has been cited
in more than 35,000 scientific publications.
A key differentiator of the QIAGEN Clinical Knowledge Base is
how it combines the unmatched accuracy and consistency of QIAGEN’s
proprietary expert (MD/PhD) curation with the superior efficiency
of machine extraction to efficiently identify, extract and align
evidence. The approach ensures scalable, high-quality molecular
intelligence that users can trust to augment their own
decisions.
To date, the QIAGEN Clinical Knowledge Base has been used to
analyze and interpret more than 4 million NGS patient test cases
globally, making it one of the most trusted genomic content sources
worldwide.
For more information about QIAGEN Clinical Knowledgebase, please
visit: https://digitalinsights.qiagen.com/clinical-kb/
About QIAGEN
QIAGEN N.V., a Netherlands-based holding company, is the leading
global provider of Sample to Insight solutions that enable
customers to gain valuable molecular insights from samples
containing the building blocks of life. Our sample technologies
isolate and process DNA, RNA and proteins from blood, tissue and
other materials. Assay technologies make these biomolecules visible
and ready for analysis. Bioinformatics software and knowledge bases
interpret data to report relevant, actionable insights. Automation
solutions tie these together in seamless and cost-effective
workflows. QIAGEN provides solutions to more than 500,000 customers
around the world in Molecular Diagnostics (human healthcare) and
Life Sciences (academia, pharma R&D and industrial
applications, primarily forensics). As of September 30, 2024,
QIAGEN employed more than 5,800 people in over 35 locations
worldwide. Further information can be found at
https://www.qiagen.com.
Forward-Looking Statement
Certain statements contained in this press release may be
considered forward-looking statements within the meaning of Section
27A of the U.S. Securities Act of 1933, as amended, and Section 21E
of the U.S. Securities Exchange Act of 1934, as amended. To the
extent that any of the statements contained herein relating to
QIAGEN's products, timing for launch and development, marketing
and/or regulatory approvals, financial and operational outlook,
growth and expansion, collaborations, markets, strategy or
operating results, including without limitation its expected
adjusted net sales and adjusted diluted earnings results, are
forward-looking, such statements are based on current expectations
and assumptions that involve a number of uncertainties and risks.
Such uncertainties and risks include, but are not limited to, risks
associated with management of growth and international operations
(including the effects of currency fluctuations, regulatory
processes and dependence on logistics), variability of operating
results and allocations between customer classes, the commercial
development of markets for our products to customers in academia,
pharma, applied testing and molecular diagnostics; changing
relationships with customers, suppliers and strategic partners;
competition; rapid or unexpected changes in technologies;
fluctuations in demand for QIAGEN's products (including
fluctuations due to general economic conditions, the level and
timing of customers' funding, budgets and other factors); our
ability to obtain regulatory approval of our products; difficulties
in successfully adapting QIAGEN's products to integrated solutions
and producing such products; the ability of QIAGEN to identify and
develop new products and to differentiate and protect our products
from competitors' products; market acceptance of QIAGEN's new
products and the integration of acquired technologies and
businesses; actions of governments, global or regional economic
developments, weather or transportation delays, natural disasters,
political or public health crises, and its impact on the demand for
our products and other aspects of our business, or other force
majeure events; as well as the possibility that expected benefits
related to recent or pending acquisitions may not materialize as
expected; and the other factors discussed under the heading “Risk
Factors in our most recent Annual Report on Form 20-F. For further
information, please refer to the discussions in reports that QIAGEN
has filed with, or furnished to, the U.S. Securities and Exchange
Commission.
Source: QIAGEN N.V.
Category: Corporate
1
https://www.theguardian.com/science/2022/dec/13/genome-sequencing-trial-to-test-benefits-of-identifying-genetic-diseases-at-birth,
as of August 28, 2024
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version on businesswire.com: https://www.businesswire.com/news/home/20250107278948/en/
Investor Relations John Gilardi +49 2103 29 11711
Domenica Martorana +49 2103 29 11244 e-mail: ir@QIAGEN.com
Public Relations Thomas Theuringer +49 2103 29 11826 Lisa
Specht +49 2103 29 14181 e-mail: pr@QIAGEN.com
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