Rady Children’s Institute for Genomic Medicine has launched a program to advance and evaluate the scalability of a diagnostic and precision medicine guidance tool called BeginNGS (pronounced “beginnings”) to screen newborns for approximately 400 genetic diseases that have known treatment options using rapid whole genome sequencing.

BeginNGS, developed through a research collaboration with AstraZeneca’s Rare Disease group Alexion, Fabric Genomics, Genomemon, Illumina, and TileDB, uses rapid whole genome sequencing (rWGS) to diagnose and identify treatment options for genetic conditions before symptoms begin. This represents an advancement over current pediatric uses of rWGS that focus mainly on children who are already critically ill.

Once a diagnosis is made, BeginNGS uses Genome-to-Treatment (GTRx), a tool that provides immediate treatment guidelines for physicians to help them understand genetic conditions and their available treatment options, which may include therapeutics, dietary changes, surgery, medical devices, or other interventions.