NEW YORK – Illumina said on Monday that it has entered into a collaboration with Germany's Hannover Medical School to implement whole-genome sequencing in critically ill children suspected of having a genetic or rare disease.
Under the terms of the agreement, Illumina will provide reagents for library preparation and sequencing of 100 children and, where possible, their parents. Moreover, Illumina will be "providing access to its tertiary analysis pipeline and technical and bioinformatic support from its application scientist and bioinformatic support teams and/or subject matter experts," Sven Schaffer, senior director of medical affairs at Illumina, said in an email.
Researchers from Hannover Medical School will evaluate the use of WGS in neonatal and pediatric intensive care unit settings and its diagnostic efficacy. The partners said in a statement that they expect the findings 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 rWGS in the German healthcare system."
Financial and other details of the collaboration were not disclosed.
"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," Bernd Auber, the study leader at Hannover Medical School, said in a statement. "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."