Illumina supports the leading German hospital to accelerate the diagnosis of genetic diseases in seriously ill children

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

San Diego – Live News – Illumina

SAN DIEGO, April 25, 2022 / 3BL Media / – Illumina, Inc. has announced. (NASDAQ: ILMN), the global leader in DNA sequencing and matrix-based technologies, has announced an agreement with the German Medical School of Hannover (Medizinische Hochschule Hannover (MHH)) to implement the use of whole genome sequencing (WGS) in suspected critically ill children. Hereditary or rare disease. The project, led by MHH’s Department of Human Genetics, will evaluate the use of WGS in neonatal and pediatric intensive care unit settings to demonstrate the positive impact of early diagnosis and treatment of hospitalized children.

At least 100 critically ill children in intensive care with suspected genetic disorders will be tested, where possible on a triploid (the affected child and its parents), to assess the diagnostic efficacy of rapid WGS (rWGS). The results of the study will be used to challenge the current inclusion and exclusion criteria for eligibility of rWGS in intensive care settings and to help create appropriate evidence for the early use of rWGS in the German healthcare system. Recent studies in the Canadian, UK and US healthcare systems on rapid (triple) WGS in critically ill children have shown it to have significant clinical value for accurate pediatrics due to its high diagnostic rate and short time to diagnosis.

“We are honored to support Hannover Medical School on this project,” said Paola Dodi, Senior Vice President and General Manager, EMEA, Illumina, Illumina. “The ability to provide faster diagnosis of genetic diseases through whole genome sequencing is critical in reducing suffering and uncertainty in critically ill children – it has proven to be the most cost-effective means of making a diagnosis. Importantly, this project will also add to the pool The growing universality of evidence about the value of whole genome sequencing in the appropriate diagnosis of children with genetic diseases”.

The project will also realize the clinical benefit of rWGS in terms of changes in patient care and management. In addition, it will analyze the health economic impact on the hospital by comparing the costs of rWGS against the current diagnostic pathway for a critically ill child with a suspected genetic disorder. Illumina supports the project by providing reagents for DNA library preparation and sequencing of reagents for WGS samples.

“Time is critical for children in intensive care who are suspected of having genetic diseases, and with 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 Ober, MD, a physician specializing in human genetics. Hanover Medical Center, whose study team is leading. “Our goal is to implement whole genome sequencing as a decision-making tool in pediatric and neonatal intensive care units, ideally replacing routine diagnostic tests currently in use. We are grateful to Illumina for their support.”

Rare diseases, of which more than 7,000 are known, mainly contribute to hospitalizations and infant mortality. About 2-6% of the world’s population is affected by a rare disease, and while 80% of them have a genetic component, many patients struggle in the search for a diagnosis. On average, the diagnostic journey can take five to seven years.

The German study will contribute to a growing body of evidence generated in other countries – including AustraliaAnd CanadaThe United kingdom and the United State Demonstrate that WGS offers significant benefits for diagnosing genetic diseases in critically ill infants. Similar studies evaluating the role of WGS in critically ill children are underway in other countries such as Al Jalila Children’s Specialty Hospital in Dubai, and the Israeli National Pilot Program in Neonatal Intensive Care Units.

About whole genome sequencing

WGS is the most comprehensive method for testing for genetic diseases and allows the identification of pathogenic variants in non-coding regions as well as the unprecedented detection of pathogenic single nucleotide variants, small insertions and deletions, copy number and structural variants, among others. WGS can speed up the time to diagnose patients with suspected genetic diseases, and end long and painful journeys for patients and their families, helping to improve treatment and management. The use of rWGS to diagnose genetic conditions in critically ill children in intensive care settings requires a rapid turnaround of results (in less than 10 days), allowing timely delivery of optimal care. Current diagnostic options rely solely on traditional methods such as single gene testing, gene panels, and chromosome microarrays.

About Illumina

Illumina improves human health by unleashing the power of the genome. Our focus on innovation has made us a global leader in DNA sequencing and matrix-based technologies, serving clients in the research, clinical and applied markets. Our products have applications in the life sciences, oncology, reproductive health, agriculture and other emerging sectors. To find out more, visit And contact us on TwitterAnd FacebookAnd LinkedInAnd InstagramAnd Youtube.

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Source: Illumina, Inc.

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