Illumina Supports Leading German Hospital to Accelerate Diagnosis of Genetic Diseases in Critically Ill Children

A study from Hannover Medical School will evaluate the use of whole genome sequencing to show the positive impact of early diagnosis and treatment for children with suspected genetic disorders

SAN DIEGO–News Direct–Illumina

SAN DIEGO, April 25, 2022 /3BL Media/ — Illumina, Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and chip-based technologies, announced an agreement with Hannover Medical School in Germany (Medizinische Hochschule Hannover (MHH)) to implement the use of whole genome sequencing (WGS) in critically ill children suspected of having a genetic or rare disease. The project, led by the Department of Human Genetics at MHH, will evaluate the use of WGS in neonatal and pediatric intensive care units to show the positive impact of earlier diagnosis and treatment for hospitalized children.

At least 100 seriously ill children in intensive care with suspected genetic disorders will be tested, if possible in a trio (affected child and their parents), to assess the diagnostic efficacy of rapid WGS (rWGS). The results of the study will be used to challenge existing inclusion and exclusion criteria for eligibility for rWGS in critical care settings and help establish appropriate evidence for early use of rWGS in the system. German health. Recent studies carried out in healthcare systems in Canada, the United Kingdom and the United States of rapid WGS (trio) in critically ill children have shown it to be of great clinical value for precision medicine. pediatric due to its high diagnosis rate and short time to diagnosis.

“We are honored to support Hannover Medical School in this project,” said Paula Dowdy, Illumina senior vice president and general manager for Europe, Middle East and Africa. “The ability to provide faster diagnosis of genetic diseases through whole genome sequencing is crucial to reducing suffering and uncertainty in critically ill children – it has proven to be the most efficient and cost-effective way to Importantly, this project will also add to the growing global body of evidence on the value of whole genome sequencing in the rapid diagnosis of children with genetic diseases.

The project will also capture the clinical utility of the rWGS in terms of changes in patient care and management. Additionally, it will analyze the health economic impact of the hospital by comparing the costs of rWGS versus the existing diagnostic pathway for a critically ill child with a suspected genetic condition. Illumina supports the project by providing reagents for DNA library preparation and sequencing reagents for WGS samples.

“Time is critical for children in intensive care with a suspected genetic condition, and through this study, we hope to lead the way in applying cutting-edge genomics to improve healthcare and bring peace of mind to families.” said Bernd Auber, MD, a human geneticist at Hannover Medical School, whose team is leading the study. “Our goal is to implement whole genome sequencing as a decision-making tool in neonatal and pediatric intensive care units, ideally replacing currently used routine diagnostic tests. We are grateful to Illumina for their support.

Rare diseases, of which more than 7,000 are known, are the main causes of hospitalization and death among infants. About 2 to 6% of the world’s population is affected by a rare disease and while 80% of them have a genetic component, many patients struggle to seek a diagnosis. On average, the diagnostic odyssey can take five to seven years.

The German study will contribute to a growing body of evidence generated in other countries – including Australia, Canadathe UK and the United States — showing that WGS offers significant advantages for the diagnosis of genetic diseases in critically ill infants. Similar studies to assess the role of WGS in critically ill children are underway in other countries such as Al Jalilah Specialty Children’s Hospital in Dubai and Israel’s National Pilot Program in Neonatal Intensive Care Units.

About Whole Genome Sequencing

WGS is the most comprehensive method for genetic disease testing and enables the identification of pathogenic variants in non-coding regions as well as unprecedented detection of disease-causing single nucleotide variants, small insertions and deletions, and copy number and structural variants, among others. WGS can speed up the time to diagnosis for patients with suspected genetic diseases, ending the long and painful odyssey for patients and their families, helping to optimize treatment and management. Using the rWGS to diagnose genetic diseases in critically ill children in intensive care settings requires rapid results (in less than 10 days), allowing for the timely provision of optimal care. Current diagnostic options rely solely on conventional approaches such as single gene assays, gene panels, and chromosomal microarrays.

About Illumina

Illumina improves human health by unlocking the power of the genome. Our focus on innovation has enabled us to become a global leader in DNA sequencing and chip-based technologies, serving customers in the research, clinical and application markets. Our products are used for applications in life sciences, oncology, reproductive health, agriculture and other emerging segments. To learn more, visit and join us on Twitter, Facebook, LinkedIn, instagramand Youtube.

Investors:Salli [email protected]

Media:Adi RavalUS: [email protected]

Source: Illumina, Inc.

Discover additional media content and other ESG stories from Illumina at

See the source version on

About Norma Wade

Check Also

European stocks slide 2.8% after weak eurozone data and new UK economic plan

European stocks were down sharply on Friday as investors digested a series of central bank …