Press release
Illumina Supports Leading German Hospital to Accelerate Genetic Disease Diagnosis in Critically Ill Children
Hannover Medical School study will evaluate the use of whole-genome sequencing to show positive impact of earlier diagnosis and treatment for children with
About this update from Illumina, Inc.
[{"type":"text","content":"Hannover Medical School study will evaluate the use of whole-genome sequencing to show positive impact of earlier diagnosis and treatment for children with suspected genetic disorders\nSAN DIEGO, April 25, 2022 /PRNewswire/ -- Illumina, Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, today announced an agreement with Germany's Hannover Medical School (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 unit settings to show the positive impact of earlier diagnosis and treatment for hospitalized children.\n\n \n \n \n \n \n \n\n \nAt least 100 critically ill children in intensive care with suspected genetic disorders will be tested, where possible as a trio (affected child and their parents), to evaluate the diagnostic efficacy of rapid WGS (rWGS). The study findings will be used to challenge the existing inclusion and exclusion criteria for rWGS eligibility in intensive care settings and help to establish appropriate evidence for earlier use of rWGS in the German healthcare system. Recent studies performed in healthcare systems in Canada, the UK and the US on rapid (trio) WGS in critically ill children have shown it to be of great clinical value for pediatric precision medicine due to its high diagnostic rate and short time to diagnosis.\n\"We are honored to support Hannover Medical School on this project,\" said Paula Dowdy, Senior Vice President and General Manager of Illumina for Europe, the Middle East, and Africa. \"The ability to provide a faster diagnosis for genetic diseases through whole-genome sequencing is crucial in reducing the suffering and uncertainty in critically ill children — it has been shown to be the most actionable and cost-efficient means to make a diagnosis. Importantly, this project will also add to the growing global body of evidence on the value of whole-genome sequencing in the timely diagnosis of children with genetic diseases.\"\nThe project will also capture the clinical utility of rWGS in terms of changes in patient care and management. Additionally, it will analyze the health economic impact on the hospital by compar...