ILLUMINA
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 .
View source version on businesswire.com: https://www.businesswire.com/news/home/20210218006118/en/
Link:
About Business Wire
Subscribe to releases from Business Wire
Subscribe to all the latest releases from Business Wire by registering your e-mail address below. You can unsubscribe at any time.
Latest releases from Business Wire
HCL Group and UpLink Announce Winners of ‘Water Resilience Challenge’ Under the Aquapreneur Innovation Initiative21.1.2026 16:02:00 CET | Press release
10 Aquapreneurs selected from over 300 applicantsWinners showcased innovations across digital water management, biological breakthroughs, hardware solutions, deep-tech design, and community-driven modelsFinancial support of CHF 1.75 million available to scale initiativesAquapreneur Innovation Initiative: CHF 15 million commitment to global water challenges HCL Group, a leading global conglomerate, and UpLink, the World Economic Forum’s early-stage innovation initiative, have announced the winners of the ‘Water Resilience Challenge,’ the fourth in a series of five challenges under the five-year, CHF 15 million Aquapreneur Innovation Initiative launched by HCL Group. The announcement marks a significant step in the ongoing mission to address global water challenges through innovation and entrepreneurship. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20260121697759/en/ Roshni Nadar Malhotra, Chairperson of HCL Group, congratula
illumynt Appoints Chris Tejeda as Chief Revenue Officer21.1.2026 15:47:00 CET | Press release
illumynt today announced the promotion of Chris Tejeda to Chief Revenue Officer (CRO), reflecting the company’s continued growth and expanding global footprint. In his new role, Tejeda will lead illumynt’s global revenue strategy, customer engagement, and strategic partnerships as demand accelerates for secure, technology-driven IT Asset Disposition (ITAD) solutions. “Chris has been instrumental in aligning our commercial strategy with the evolving needs of hyperscale and enterprise customers,” said CEO Joerg Herbarth. “As AI accelerates infrastructure refresh cycles and raises the bar for security and compliance, his leadership will be critical to scaling illumynt with focus, transparency, and customer trust.” Tejeda brings extensive experience in enterprise technology services and has played a key role in illumynt’s recent momentum, including significant revenue growth and the expansion of advanced capabilities across AI/GPU diagnostics, automation, and value recovery. View source ve
Technology Innovation Institute and World Economic Forum Announce ‘Abu Dhabi Centre for Frontier Technologies’ at Davos21.1.2026 15:30:00 CET | Press release
Abu Dhabi becomes home to newest Centre for the Fourth Industrial Revolution, focused on Quantum, Robotics, Space Tech and relate AI applications The Technology Innovation Institute (TII), the applied research arm of Abu Dhabi’s Advanced Technology Research Council (ATRC), and the World Economic Forum (WEF) have announced the launch of the Abu Dhabi Centre for Frontier Technologies, a new Centre within WEF’s prestigious Centre for the Fourth Industrial Revolution (C4IR) Global Network. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20260120284423/en/ Technology Innovation Institute and World Economic Forum Announce ‘Abu Dhabi Centre for Frontier Technologies’ at Davos (Photo: AETOSWire) The collaboration was formalized during a signing ceremony on the sidelines of the World Economic Forum Annual Meeting 2026 in Davos, marking a significant step in deepening international cooperation to shape the future of frontier technologies
Volante Technologies introduces Multi-cloud Resiliency Service to ensure non-stop payments processing during major cloud outages21.1.2026 15:00:00 CET | Press release
New premium service delivers cross-cloud failover with zero data loss for banks, eliminating single-cloud dependency and helping banks meet rising operational resilience expectations Volante Technologies, the global leader in Payments as a Service (PaaS), today announced the launch of its premium Multi-cloud Resiliency Service, engineered to keep financial institutions’ payment operations running seamlessly during major cloud provider outages. Built on Volante’s proven cloud-native payments platform, the service provides true cross-cloud continuity, eliminating single-cloud/provider dependency for the payments layer. Recent large-scale outages across hyperscale cloud providers have demonstrated the real-world impact of cloud concentration risk for banks: delayed or failed transactions, SLA penalties, customer churn, operational recovery costs, and reputational damage. While industry research estimates financial sector outages can exceed $2 million per hour, the financial exposure for m
Ras Al Khaimah Ruler Inaugurates 14th Ras Al Khaimah Art Festival21.1.2026 14:50:00 CET | Press release
The festival brings together more than 100 artists from 49 countriesIt is a leading cultural platform, celebrating artistic excellence, fostering international exchange and reinforcing the Emirate’s role as a host for cultural dialogue His Highness Sheikh Saud bin Saqr Al Qasimi, UAE Supreme Council Member and Ruler of Ras Al Khaimah, inaugurated the 14th edition of Ras Al Khaimah Art Festival at Al Jazeera Al Hamra Heritage Village, marking the opening of the Emirate’s flagship annual cultural event. The festival is organized by the Sheikh Saud bin Saqr Al Qasimi Foundation for Policy Research and runs until February 8 under the theme ‘Civilizations’. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20260121583855/en/ Ras Al Khaimah Art Festival, officially opened by His Highness Sheikh Saud bin Saqr Al Qasimi, UAE Supreme Council Member and Ruler of Ras Al Khaimah, has successfully completed its opening weekend, where cultures
In our pressroom you can read all our latest releases, find our press contacts, images, documents and other relevant information about us.
Visit our pressroom