Illumina, Inc. , a global leader in DNA sequencing and array-based technologies, 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.
“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.”
The 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 comparing the costs of rWGS versus the existing diagnostic pathway for a critically ill child with a suspected genetic disorder. Illumina is supporting the project by providing reagents for the library preparation of DNA and sequencing reagents for the WGS samples.
“Time is critical for children in intensive care with suspected genetic disease, 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, Human Geneticist at Hannover Medical School, whose team is leading the study. “Our aim is to implement whole-genome sequencing as a decision-making tool in neonatal and pediatric intensive care units, ideally replacing routine diagnostic tests currently used. We are grateful to Illumina for their support.”