“Diagnosing acutely ill babies is a race against the clock, which is why it’s so essential for physicians to have access to technology that will provide answers faster and help set the course of treatment.” – Stephen Kingsmore, M.D. D.Sc. President and CEO, Rady Children’s Institute for Genomic Medicine
Did you know that over 20% of infant deaths are caused by genetic illnesses and that up to one third of admissions to neonatal intensive care are caused by genetic illnesses? Genetic diseases and congenital anomalies are the leading cause of death in infants in the United States, especially in Neonatal Intensive Care Units (NICU) and Pediatric Intensive Care Units (PICU). Together with the Rady Children’s Institute for Genomic Medicine, led by Dr. Stephen Kingsmore, and Illumina, Inc., we’ve developed a scalable technical solution to address these troubling statistics.
It’s called the “Ultra-Rapid Method,” an infrastructure designed to enable widespread deployment of ultra-rapid diagnosis of genetic diseases. The method is powered by our DRAGEN Bio-IT Platform, a genomic analysis platform that uses a field-programmable gate array (FPGA) to provide hardware accelerated implements of genome pipeline algorithms, and is currently being implemented at the Rady Children’s. Rapid WGS diagnosis has the potential to transform the care of infants in NICUs and PICUs around the world by enabling the diagnosis of over 5,000 genetic diseases in minutes, compared to the 60 or so disorders identified through current screening tests and procedures, and subsequently the means to accurately and precisely treat ill newborns in situations when each minute until diagnosis is critical.
The Ultra-Rapid Method utilizes the blazingly fast compute and integrated hyper-efficient storage solution from Edico and is part of a two-phase broader impact vision. First, our goal is for Rady Children’s to become an ultra-rapid medical sequencing hub for all children’s genome sequencing. Second, we aspire to replicate what is being done at Rady Children’s in an appliance format that can be implemented at any hospital around the country, all connected via a secure data sharing cloud.
Please direct any questions or comments about the white paper to Gavin Stone at Gavins@edicogenome.com.