San Diego, Oct. 1 /PRNewswire/
A study from Hannover Medical School will evaluate the use of whole genome sequencing to show positive effects of early diagnosis and treatment in children suspected of having genetic disorders.
Illumina, Inc. announced. (NASDAQ:ILMN), the global leader in DNA sequencing and matrix-based technologies, today announced an agreement with Hannover Medical School (MHH) for the use of whole genome sequencing (WGS) in critically ill children with suspected genetics or rare diseases. . The project, led by the Department of Human Genetics at MHH, will evaluate the use of whole genome sequencing in neonatal and pediatric intensive care units to demonstrate the positive impact of early diagnosis and treatment for hospitalized children.
At least 100 critically ill children in the intensive care unit with suspected genetic disorders as triads (the affected child and his or her parents) are tested to evaluate the diagnostic efficacy of rapid whole genome sequencing (rWGS). The results of the study should serve to question the current inclusion and exclusion criteria for eligibility of rWGS in intensive care medicine and to develop corresponding evidence for the early use of rWGS in the German healthcare system. Recent studies of rapid (triple) WGS in critically ill children, conducted in the health systems of Canada, Great Britain and the USA, have shown that the procedure is of great clinical value to the pediatric population due to the high rate of diagnosis and short time to diagnosis is precision medicine.
“We are honored to support Hannover Medical School on this project,” said Paula Daudi, Illumina Vice President and General Manager EMEA. This is critical to reducing suffering and uncertainty in critically ill children. To be the most feasible and cost-effective diagnostic method. Importantly, this project also adds to the growing global body of evidence about the value of whole-genome sequencing in early pediatric diagnosis will expand with genetic diseases. “
The project also aims to recognize the clinical utility 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 cost of rWGS with the current diagnostic pathway for a critically ill child suspected of having a genetic disorder. Illumina supports the project by providing reagents for DNA library preparation and sequencing of reagents for WGS samples.
“Time is of the essence for children in intensive care units suspected of having a genetic condition, and with this study we hope to lead the way in applying the latest in genomics to improve healthcare and bring reassurance to families,” explained Bernd Ober, MD. D., a human geneticist at Hannover Medical School, who is leading his study team, said, “Our goal is to use whole-genome sequencing as a decision support tool in the neonatal and pediatric intensive care unit, ideally replacing routine diagnostic tests currently in use. We Illumina are grateful for the support.”
Rare diseases, of which more than 7,000 are known, are a leading cause of hospitalizations and deaths among young children. A rare disease affects approximately 2-6% of the world’s population, and although 80% of these have a genetic component, the path to diagnosis is very difficult for many patients. On average, the diagnostic journey takes five to seven years.
The German study aims to further contribute to a growing body of evidence obtained in other countries – including Australia, Canada, the United Kingdom and the United States – showing that whole-genome sequencing has significant benefits in diagnosing genetic disorders in presentations of critically ill young children. Similar studies evaluating the role of WGS in critically ill children are underway in other countries, including Al Jalila Children’s Specialty Hospital in Dubai and the State of Israel’s pilot program in neonatal intensive care units.
Whole genome sequencing information
Whole genome sequencing (WGS) is the most comprehensive method for testing genetic diseases and allows, among other things, the identification of disease-causing variants in non-coding regions and the unprecedented detection of pathogenic single nucleotide variants, small insertions and deletions, copy number and structural variants. WGS can shorten the time to diagnose patients with suspected genetic disorders, end the long and painful journey for patients and their families, and help improve treatment and management. The use of rWGS to diagnose genetic disorders in critically ill children in the intensive care unit requires rapid results (<10 days) to enable timely and optimal care. Current diagnostic options are based solely on traditional methods such as single gene testing, gene panels, and microarrays.
Information about Illumina
Illumina improves human health by harnessing the power of the genome. Our focus on innovation has made us a global leader in DNA sequencing and matrix-based technologies that benefit research, clinic and application clients. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging sectors. For more information visit www.illumina.com and follow us Twitterand Facebook, LinkedIn, Instagram and YouTube.
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Source: Illumina, Inc.
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