Illumina Supports Genetic Disease Diagnosis in Critically Ill Children

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

A study from the Faculty of Medicine of Hanover will evaluate the use of whole genome sequencing to demonstrate the positive impact of earlier diagnosis and treatment in children with suspected genetic disorders

SAN DIEGO, April 25, 2022 /PRNewswire/ — Illumina, Inc. (NASDAQ: ILMN), a world leader in array-based and DNA sequencing technologies, today announced an agreement with the Hanover (Medizinische Hochschule Hannover (MHH)) in Germany to implement the use of whole genome sequencing (WGS) in seriously 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 unit settings to demonstrate the positive impact of earlier diagnosis and treatment for hospitalized children.

At least 100 children in intensive care with suspected genetic disorders will be tested, whenever possible as a trio (affected child and their parents), to assess the diagnostic performance of rapid WGS (rWGS). The results of the study will be used to challenge existing inclusion and exclusion criteria for rWGS eligibility in intensive care settings and will help establish adequate evidence for early use of rWGS in the German healthcare system. Recent studies in Canadian, UK and US healthcare systems on rapid WGS (trio) in critically ill children have shown that it has great clinical value for pediatric precision medicine due to its high diagnostic rate and short time. until diagnosis.

“We are honored to support the School of Medicine at Hanover in this project,” said Paula DowdySenior Vice President and General Manager of Illumina 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 been shown to be the most actionable and cost-effective means of making a Importantly, this project will also add to the growing body of global evidence on the value of whole genome sequencing in the timely 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. In addition, it will analyze the economic impact of hospital health by comparing the costs of rWGS versus the existing 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 reagents for WGS samples.

“Time is critical for children in intensive care with suspected genetic disease, and through this study we hope to lead the application of cutting-edge genomics to improve healthcare and bring peace of mind to families,” he said. Bernd AuberMD, Human Geneticist at the School of Medicine of Hanover, whose team is leading the study. “Our The objective is to implement whole genome sequencing as a decision-making tool in neonatal and pediatric intensive care units, ideally replacing the routine diagnostic tests currently used. We thank Illumina for their support.”

Rare diseases, of which more than 7,000 are known, are the ones that contribute most to hospitalization and mortality in children. About 2-6% of the world’s population is affected by a rare disease, and although 80% of these have a genetic component, many patients struggle to find a diagnosis. On average, the diagnostic odyssey can last five to seven years.

The German study will contribute to a growing body of evidence generated in other countries – such as Australia, Canada, the United Kingdom and the United States – showing that WGS offers important benefits 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 the Al Jalilah Specialized Children’s Hospital in dubaiand the national pilot program of Israel in neonatal intensive care units.

About Whole Genome Sequencing

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

About Illumina

Illumina is improving human health by unleashing the power of the genome. Our Our focus on innovation has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used in applications in life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit and connect with us at TwitterFacebook, LinkedIn, Instagram, and YouTube.

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