ILLUMINA
19.2.2021 07:02:13 CET | Business Wire | Press release
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
Takeda’s ORZEYFUL (oveporexton) Launches Simultaneously in Japan and China Giving Physicians First Access to Prescribe Novel Orexin Agonist to Patients with Narcolepsy Type 115.10.2026 02:30:00 CEST | Press release
− ORZEYFUL is now available in Japan and China following approvals within a month of each other by China’s National Medical Products Administration (NMPA), the U.S. Food and Drug Administration (FDA) and Japan’s Ministry of Health, Labour and Welfare (MHLW) − Discovered by Takeda scientists in Japan, ORZEYFUL is the lead medicine in Takeda’s orexin franchise, with multiple programs for sleep-wake disorders and conditions where orexin biology plays a role − ORZEYFUL set to launch next month in the U.S., following completion of DEA scheduling; Health Authority submissions underway worldwide Takeda (TSE:4502/NYSE:TAK)announced today that ORZEYFUL (oveporexton) is now available in Japan and China for the treatment of narcolepsy type 1 (NT1), providing first access to clinicians to prescribe treatment with the new class of medicine. ORZEYFUL is a first-in-class orexin receptor 2 (OX2R) agonist, in tablet form, designed to treat the underlying orexin deficiency associated with NT1. “We’re ex
Celltrion to Spotlight Subcutaneous (SC) Infliximab (Remsima™ SC) and Broader IBD Portfolio at UEG Week 202615.10.2026 02:10:00 CEST | Press release
Celltrion to showcase its broad IBD portfolio, including Remsima™ IV, Remsima™ SC, the newly launched Remsima™ IV Liquid formulation, Steqeyma™ and Yuflyma™Symposium and Meet the Experts sessions to highlight long-term clinical evidence and real-world experience with subcutaneous (SC) infliximab (Remsima™ SC) across different IBD patient scenarios Celltrion, Inc. (KRX:068270) announced its participation in United European Gastroenterology (UEG) Week 2026, in Barcelona, Spain (Oct. 17-20), highlighting its inflammatory bowel disease (IBD) treatment portfolio, led by Remsima™ SC (subcutaneous infliximab). Celltrion will showcase its comprehensive infliximab portfolio, comprising Remsima™ intravenous (IV) and subcutaneous (SC) formulations, as well as the Remsima™ IV liquid formulation launched in Europe earlier this year.1 Additionally, the company will highlight its broader IBD portfolio, including SteQeyma™ (ustekinumab) and Yuflyma™ (adalimumab), reflecting its continued efforts to ex
ProcureTEX Returns for Its Second Year, Bringing AI and Best-of-Breed Procurement Technology to Amsterdam14.10.2026 18:26:00 CEST | Press release
Founding partners Beroe, Keelvar and Zip bring back the community-driven event with a practitioner-shaped agenda spanning real-world AI use and the future of procurement ProcureTEX, the community-driven event for best-of-breed procurement technology, returns for its second year on November 3, 2026, at Circa in Amsterdam. Following its London debut in 2025, the event sharpens its focus on how AI is reshaping procurement. It will bring together over 250 procurement leaders and digital transformation teams from large enterprises, with vetted best-of-breed technology providers, to see AI agents and interoperable tools working together on real enterprise challenges. Co-founded by Beroe, Keelvar and Zip, the event is built on the belief that the future of procurement isn’t a monolithic all-in-one suite, but an ecosystem of best-of-breed tools working together. It is designed for procurement and enterprise leaders seeking scalable, modern solutions, whether they’re driving transformation, fru
eM Client 11 Launches: A European Outlook Alternative Bringing AI Freedom, Digital Sovereignty, and Next-Generation Productivity14.10.2026 18:16:00 CEST | Press release
eM Client, the European developer of the popular email and productivity application used by millions worldwide, today announced the release of eM Client 11, its most significant update yet. The new version introduces advanced AI capabilities, and major productivity improvements, strengthening its position as an independent alternative to Microsoft Outlook. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20261014945464/en/ eM Client 11 main window AI Without Vendor Lock-In eM Client 11 introduces a powerful AI Assistant that enables users to search, summarize, organize, and manage emails using natural language. Additional features include personalized AI writing, context-aware quick replies, automatic task and event detection, and AI-powered email rules. Unlike traditional AI integrations, eM Client 11 supports Bring Your Own Key (BYOK), allowing organizations to connect compatible AI providers and models of their choice. The re
iQmetrix and Stratus HR Partner to Give Wireless Retailers a Complete, Outsourced HR Department14.10.2026 17:15:00 CEST | Press release
New integration connects the employee lifecycle to the store – new hires, terminations, rehires, position moves, and security-role updates flow straight into the POS, with payroll, benefits, and compliance handled by Stratus HR’s certified experts. Stratus HR, a full-service human resources outsourcing provider, today announced a partnership with iQmetrix, the Intelligent Commerce Operating System for telecom. As a Professional Employer Organization (PEO), Stratus HR becomes the complete, outsourced HR partner for wireless retailers on iQmetrix – payroll, benefits, compliance, and on-call HR experts – so retail teams stay focused on selling and serving customers. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20261014178512/en/ Fully integrated with iQmetrix, Stratus HR’s custom-built technology connects the employee lifecycle to the store: new hires, terminations, rehires, position moves, and security-role updates flow straig
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