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
Svante & Meadow Lake Tribal Council Partnership Agrees to Sell Microsoft 626,000 Tonnes of Carbon Removal Credits6.4.2026 17:00:00 CEST | Press release
Microsoft agrees to purchase 626,000 tonnes of durable carbon dioxide removal (CDR) credits over a 15-year delivery term from the North Star BECCS project in Saskatchewan, Canada. Indigenous ownership: North Star Carbon Solutions LP is a Meadow Lake Tribal Council (MLTC)–Svante partnership. The deal is Microsoft’s first Canadian BECCS CDR offtake agreement and is believed to be the first of its kind in Canada involving Indigenous ownership. The project is co-located at the MLTC Bioenergy Centre and supplied by sustainable waste biomass from MLTC’s adjacent sawmill. Svante Technologies Inc. (Svante) and Meadow Lake Tribal Council (MLTC) announced today that North Star Carbon Solutions LP has entered into an offtake agreement with Microsoft to deliver 626,000 tonnes of durable carbon dioxide removal (CDR) credits to be delivered over 15 years from the North Star bioenergy with carbon capture and storage (BECCS) project in Saskatchewan, Canada. The project is being developed through a par
Textron Aviation Names Five 2026 Top Hawk Recipients as Program Enters Its Second Decade of Workforce Impact6.4.2026 17:00:00 CEST | Press release
Textron Aviation Inc., a Textron Inc. (NYSE:TXT) company, today announced Brazos Valley Flight Services, Executive Air Taxi Corporation, Fairmont State University, Sterling Flight Training and Victors Aviation as its 2026 Top Hawk program recipients, continuing a legacy that has placed 55 factory-new Cessna Skyhawks in training environments since the program launched in 2015. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20260402481685/en/ Factory-new Cessna Skyhawks (Model 172) to take flight as Textron Aviation names five 2026 Top Hawk recipients—helping train the next generation of pilots Now entering its second decade, Top Hawk is one of the industry’s longest‑running manufacturer‑school partnerships. Designed to support aviation workforce development, the program loans custom‑branded, factory‑new Skyhawks to selected organizations for one year, giving students access to the world’s most popular training aircraft and help
The Spectrum of Global Cinema Unfolds in Jeonju: The 27th JEONJU International Film Festival6.4.2026 15:23:00 CEST | Press release
237 films from 54 countries to be screened under the slogan “Beyond the Frame” The 27th JEONJU International Film Festival (JIFF) is set to run from April 29 to May 8 in Jeonju, featuring 237 movies from 54 countries. Jeonju—the most authentic Korean city and a prominent tourist destination in Asia known for its tradition and cuisine—will host this year’s film festival under the slogan “Beyond the Frame.” This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20260406890043/en/ The 27th JEONJU International Film Festival will take place from April 29 to May 8 in Jeonju (Image: JEONJU CITY) Opening the 27th edition will be Kent Jones’s “Late Fame,” while the film “The Longest Night: Namtaeryong” directed by Kim Hyun-ji will close the festival. In addition, a special program honors the late Korean actor Ahn Sung-ki, who passed away last year. Titled “Special Focus: Ahn Sung-ki’s Memorable Films Yet Rarely Seen,” it showcases seven of hi
Andersen Consulting tilføjer Multiplica3.4.2026 13:30:00 CEST | Pressemeddelelse
Andersen Consulting indgår en samarbejdsaftale med Multiplica, et digitalt konsulentfirma, der hjælper organisationer med at designe, bygge og skalere effektfulde digitale oplevelser. Multiplica, der er stiftet i Spanien og desuden har aktiviteter i Latinamerika og USA, fokuserer på brugerundersøgelser og behovsafdækning, research af kundeoplevelser, digital strategi, datamodellering og -analyse, rapportautomatisering og datavisualisering, konverteringsoptimering, produktdesign og design af brugeroplevelser. Virksomheden hjælper organisationer med at fremskynde den digitale transformation ved at opbygge digitale kompetencer, teams og aktiver, der fremmer ekspertise på tværs af digitale produkter, rådgivning og talentudvikling. Multiplica gør det muligt for kunder at prognosticere nye tendenser inden for digitale oplevelser og transformere deres forretninger gennem styrkede digitale kanaler og kundeengagement. "Samarbejdet med Andersen Consulting udgør en spændende mulighed for at udvid
Enry’s Island Unveils “Enry’s Island Adventures”: Venture Capital Becomes a Videogame and Launches the “Strap” Movement on Kickstarter3.4.2026 09:47:00 CEST | Press release
Gaming, finance, and lifestyle merge to democratize the startup ecosystem: Enry’s Island opens 2026 applications for game development studios seeking more than just capital. Enry’s Island SpA (WBAG: EIOS), the world’s first publicly traded Venture Builder, today announced the upcoming Kickstarter launch of Enry’s Island Adventures (EIA), developed by its New York-based portfolio company, Enry’s Island Adventures LLC. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20260402548535/en/ The game is designed to make venture capital accessible to new generations, transforming startup creation into an engaging and social gaming experience. After three years of R&D, EIA introduces a "bleisure" model (business + leisure): players learn to launch and manage startups through gameplay that includes real business KPIs, a customizable and evolving personal island, synchronous and asynchronous multiplayer modes, social events, and community-d
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