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Illumina Working with Hannover Medical School in Germany to Show Value of Rapid WGS in Neonatal and Pediatric ICU

April 25, 2022

Genome sequencing company Illumina said it entered into an agreement with Germany’s Hannover Medical School (Medizinische Hochschule Hannover) to implement the use of whole-genome sequencing in critically ill children suspected of having a genetic or rare disease.

The project, led by the Department of Human Genetics at Hanover Medical School, will evaluate the use of whole genome sequencing in neonatal and pediatric intensive care unit settings to show the positive impact of earlier diagnosis and treatment for hospitalized children.

At 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. The study findings will be used to challenge the existing inclusion and exclusion criteria for rapid WGS eligibility in intensive care settings and help to establish appropriate evidence for earlier use of rapid WGS in the German healthcare system.

The German study is expected to contribute to a growing body of evidence that WGS offers significant benefits for diagnosis of genetic disease in critically ill infants. Recent studies performed in healthcare systems in Canada, the United Kingdom, and the United States 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.

“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,” said Paula Dowdy, senior vice president and general manager of Illumina for Europe, the Middle East, and Africa. “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 rapid WGS 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 rapid WGS 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, 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.”

Author: Rare Daily Staff

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