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
The Estée Lauder Companies Makes Strategic Minority Investment in Mexican Luxury Fragrance Brand XINÚ13.11.2025 22:50:00 CET | Press release
The Estée Lauder Companies Inc. (NYSE: EL) today announced a minority investment in XINÚ, a Mexican luxury fragrance brand inspired by the abundance and exoticism of the American continent. This investment marks the first time The Estée Lauder Companies has invested in a Latin American brand, underscoring the company’s commitment to championing local entrepreneurship and innovation. Since its founding in 2017, XINÚ has created a distinctive universe where fragrance, design, and storytelling converge. The brand is celebrated for its sensorial retail spaces, sustainable design ethos, and products that honor heritage while reimagining modern luxury. “Fragrance excellence and craftsmanship are at the heart of The Estée Lauder Companies, and they drive our passion for discovering new voices in beauty,” said Stéphane de La Faverie, President and Chief Executive Officer, The Estée Lauder Companies. “Mexico has become a vibrant hub of fragrance innovation — a place where craftsmanship and cult
Stage Set for World’s Largest Autonomous Race as A2RL Reaches Full Fan Capacity at Yas Marina Circuit13.11.2025 19:02:00 CET | Press release
15 November at Abu Dhabi’s iconic Yas Marina Circuit, in front of a full capacity crowd Eleven global teams compete for $2.25 million prize World first: Six fully autonomous cars racing head-to-head Human vs. AI showdown featuring former F1 driver Daniil Kvyat against TUM Race will be broadcast globally, this Sunday, 16th November at 3pm GST, on the Abu Dhabi Media Network, StarzPlay, Motorsport TV and the official A2RL YouTube Channel The world’s largest autonomous car race will take place in Abu Dhabi on the 15th of November, as 11 teams from across the globe compete at the frontier of robotics, autonomy and AI for a US$2.25 million prize pool. A2RL Season 2 has been 18 months in the making, with the six fastest teams making it through the tough qualification process to the Grand Final. Ticket allocation for the Yas Marina Circuit event has once again reached full capacity of the main grandstand, as motorsport and technology enthusiasts excitedly prepare to witness an AI competition
TRU Simulation announces delivery and acceptance of the Bell 505 Flight Training Device to Royal Jordanian Air Force13.11.2025 16:00:00 CET | Press release
TRU Simulation + Training Inc., a Textron Inc. (NYSE:TXT) company, and an affiliate of Bell Textron Inc. today announced delivery and acceptance of the Bell 505 Flight Training Device (FTD) to the Royal Jordanian Air Force (RJAF). The purchase agreement with the RJAF includes aircraft delivery complete with a flight training device and a comprehensive computer-based training package to support basic and advanced rotorcraft flight training at the King Hussein Air College in Mafraq, Jordan. This milestone follows the recent delivery of 10 Bell 505 helicopters to the RJAF. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20251113604706/en/ TRU Simulation + Training announced delivery and acceptance of the Bell 505 Flight Training Device (FTD) to the Royal Jordanian Air Force (RJAF). “The Bell 505 Flight Training Device provides the Royal Jordanian Air Force a highly advanced training solution that enhances pilot readiness through r
TOURISE Destination Initiative Calls for Global Action for Urban Tourism Safety Through AI13.11.2025 15:42:00 CET | Press release
Launched today at the TOURISE Summit, the TOURISE Destination Initiative (TDI) brings together global leaders from government, international organizations, academia, and the private sector, to transform destinations into living laboratories for tourism innovation. Guided by its Declaration of Principles, TDI champions safety, environmental stewardship, cultural preservation, and community-centered development through responsible technology and multi-sector collaboration. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20251113796086/en/ His Excellency Ahmed Al Khateeb, Saudi Arabia's Minister of Tourism and Chairman of TOURISE, launches the TOURISE Destination Initiative, a global coalition to shape the future of tourism through a destination-centric approach, with co-chairs H.R.H. Prince Turki bin Talal bin Abdulaziz Al Saud, Governor of Aseer Province, and Luigi Brugnaro, Mayor of Venice. They are joined with the TDI founding
Twilio’s Latest Report Highlights Conversational AI’s Rapid Adoption, Challenges, and Perception Gaps13.11.2025 15:00:00 CET | Press release
Survey data shows a 31-point satisfaction gap between business leaders’ beliefs and consumers’ experiences with conversational AIWithin the next year, 59% of organizations expect to fully replace the conversational AI solution they have in place todayMore than 70% of consumers claim they can identify an AI agent, but 90% failed to do so correctly Twilio (NYSE: TWLO), the customer engagement platform that drives real-time, personalized experiences for today’s leading brands, today released its Inside the Conversational AI Revolution report.1 Based on a global survey of 457 business leaders and 4,800 consumers across 15 countries, the report unearths major trends related to conversational AI’s adoption, perceptions, and expectations, including a finding that 99% of organizations anticipate their conversational AI strategy will change in the next 12 months. “Businesses that want to successfully deploy conversational AI for customer service, sales, and marketing need to prioritize customer
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