Record-breaking Achievement at Rady Children's Institute for Genomic Medicine

Jun 14, 2021 12:45 PM ET
Campaign: Access

Minutes matter when a critically ill baby needs a genome-based diagnosis and the team at Rady Children's Institute for Genomic Medicine accomplished a huge breakthrough last week. The team sequenced the genome of a critically ill infant to provide a clinical diagnosis in a record-breaking 13.5 hours, leading to implementation of life-saving treatment 4 hours later. This milestone, achieved in collaboration with technology partners at Illumina and Alexion Pharmaceuticals, Inc., shows that in the future, it will be possible for clinicians to order whole genome sequencing on morning rounds and receive a molecular diagnosis by the same evening. "I believe we finally have the technology solution to end suffering and death associated with failure to diagnose genetic disease. Read our letter published in The New England Journal of Medicine." - Stephen Kingsmore, President/CEO at Rady Children's Institute for Genomic Medicine. 

Illumina is proud to partner with Rady Children's Institute for Genomic Medicine to help implement rapid whole genome sequencing.  Through innovation, philanthrophy, education and collaboration, we will break down barriers and continue to seek new ways to drive progress in the adoption of genomics for all.