Alexion’s Data Sciences Work Contributes to New GUINNESS WORLD RECORDS™ Title for Fastest Genetic Diagnosis

In May 2017, Alexion formed a partnership with the Rady Children’s Institute for Genomic Medicine (RCIGM) to accelerate the diagnosis of critically-ill newborns with rare genetic disorders. It was recently announced that scientists at RCIGM have compressed the time needed to decode rare genetic disorders in newborns through DNA sequencing to less than a day. Alexion congratulates RCIGM and is proud that its rare disease and data science expertise, which are utilized in Alexion’s SmartPanel research efforts, were applied to this innovative approach to real-time diagnosis.

This achievement was realized on February 3, when the team broke the previous GUINNESS WORLD RECORDS for the Fastest genetic diagnosis of 26 hours, to deliver an accurate rare disease diagnosis in just 19 hours 14 minutes. Through close collaboration with leading technology and data-science developers—including Illumina, Alexion, Clinithink, Edico Genome, Fabric Genomics and Diploid—rapid whole genome sequencing and cutting-edge machine learning capabilities were able to accelerate genetic diagnoses, bringing actionable information to neonatal and pediatric intensive care physicians and delivering hope to patients and their families.