Last year, Alexion Pharmaceuticals, Inc. www.alexion.com formed a collaboration with the Rady Children’s Institute for Genomic Medicine (RCIGM) https://www.rchsd.org to accelerate the diagnosis of critically ill newborns with rare genetic disorders.
Now scientists at RCGIM have compressed the time needed to decode rare genetic disorders in newborns through DNA sequencing to less than one day. On February 3, 2017, the team broke the previous records for the fastest genetic diagnosis of 26 hours by delivering an accurate rare disease diagnosis in just 19 hours 30 minutes.
The collaboration with several technology and data science developers including Illumine, Alexion, Clinithink, Edico Genome, Fabric Genomics, and Diploid, have made it possible to accomplish rapid genome sequencing and cutting edge machine learning capabilities. This enabled bringing actionable information to neonatal and pediatric intensive care physicians.
In another partnership to speed the diagnosis for children, Alexion has partnered with the Manton Center for Orphan Disease Research, which is the Innovation and Digital Health Accelerator at Boston Children’s Hospital www.childrenshospital.org. This partnership makes it possible to use an artificial intelligence approach to rapidly diagnose rare diseases.
Alexion will share their 20 Rare-Disease Questions (20RDQ) platform with others so the platform will be able to integrate rare disease definitions with clinical feature databases to enable guided questions based upon a patient’s medical history and record.
When an undiagnosed patient is presented, 20RSQ will help a physician investigate subtle features of the underlying rare disease to provide a diagnosis. Then the Innovation and Digital Health Accelerator will combine 20RSQ with internally developed software to create computable descriptions of patients that can be combined with rapid genome sequencing. This produces a prioritized list of suspect genetic variants of rare diseases for consideration by a diagnosing physician.
The Manton Center and Alexion are going to create new sets of computable descriptions of hundreds of diagnosed and undiagnosed patients with rare diseases. Then the artificial intelligence engine within 20RDQ will be able to improve diagnosis speed and accuracy while creating actionable insights and disease intervention options in a clinically meaningful timeframe.