Illumina & the University Hospital of Tübingen Evaluate Potential of Whole Genome Sequencing to Improve Diagnosis of Full Ra...
19 February 2021 - 5:00PM
Business Wire
February 19, 2021 -- Illumina, Inc. (Nasdaq: ILMN) today
announced an agreement with the Institute of Medical Genetics and
Applied Genomics at the University Hospital of Tübingen to assess
the value of whole-genome sequencing (WGS) as a first-line
diagnostic test for patients with genetic diseases and familial
cancer syndromes. Illumina will support the new
investigator-initiated study, called the Ge-Med Project, with
sequencing, analysis and health economic expertise.
The Institute is the first laboratory in Germany accredited to
perform clinical WGS. Previously, it used whole exome sequencing
for the diagnosis of rare disease conditions which involves
sequencing only around 1% of the genome known to contain the coding
regions that provide instructions for making proteins.
The move to WGS is based on a two-year feasibility study by the
Institute, supported by Illumina, which found that WGS provided
improved diagnosis across a range of rare diseases. For example, as
many as 75% of genetic eye diseases were accurately diagnosed using
WGS, including some forms of disease that could only be identified
by sequencing the entire genome. Similar results were found for
rare childhood cancers and for conditions that cause developmental
delay in children.
In addition to expanding the range of conditions for diagnosis,
the new study will examine the ability of WGS to generate scores
for the risk of common diseases based on genomic data. Known as a
polygenic risk score, this will help identify individuals that may
benefit from personalized healthcare management.
“We are delighted to be able to study whole genome sequencing as
a diagnostic in an expanded range of conditions because we have
demonstrated that it changes the management of patients who
previously remained unresolved after whole exome and other
sequencing approaches,” said Tobias Haack, Head of Molecular
Diagnostics at the Institute of Medical Genetics and Applied
Genomics, University Hospital of Tübingen.
“We are proud to support the University Hospital of Tübingen on
this important step in their genomic work,” said Dr. Phil Febbo,
Chief Medical Officer, Illumina. “Offering a clear diagnosis as
well as disease risk for common conditions will give patients peace
of mind and offer actionable steps to improve their overall
health.”
Professor Olaf Rieß said, “We know that the exome isn’t the
whole story when looking for answers to rare diseases and we have
proven the value that WGS brings to families who otherwise would
wait years for a diagnosis, or may never even receive one. Through
the new study, we hope to help Germany lead the way in applying
cutting edge genomics to improve healthcare.”
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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Illumina Media Dr. Karen Birmingham 646.355.2111
kbirmingham@illumina.com Investor Relations Juliet Cunningham
858.200.6583 ir@illumina.com
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