Scientists at the Rady Children’s Institute for Genomic Medicine (RCIGM) have compressed the time needed to decode rare genetic disorders in newborns through DNA sequencing to less than a day. RCIGM set a new GUINNESS WORLD RECORDS™ title for Fastest genetic diagnosis in 19.5 hours. Dr. Kingsmore has pioneered the rapid turnaround and delivery of genetic test results to neonatal and pediatric intensive care (NICU/PICU) physicians.
Fabric Genomics’ platform was a critical technology enabler. Fabric’s clinical decision support software enables rapid diagnosis by helping to pinpoint the source of genetic disease out of hundreds of possibilities. Fabric’s platform includes the Fabric STAT pipeline that provides guaranteed rapid turnaround time for urgent pediatric genomic tests.
Genetic diseases are the leading cause of death in infants in North America affecting an estimated four percent of newborns. Rare genetic diseases also account for approximately 15 percent of admissions to children’s hospitals.
“Our evolving ability to find the answers to medical mysteries through rapid Whole Genome Sequencing is providing hope for babies and children with rare, genetic diseases,” said Dr. Kingsmore. “By speeding delivery of genomic insights, we are equipping physicians with the information they need to provide precision care for the youngest and most fragile patients.”
Our company is honored to support this great milestone in Stephen Kingmore and the Rady team’s efforts to shape the future of medicine through early diagnosis and targeted medical treatment of the most fragile young patients, newborns and infants in the ICU.
Read the News Release and watch the video to learn more.