Rady Children’s Institute launches newborn genetic disease screening

2022 06 15 19 04 1240 Baby Infant Mom Closeup 400

Rady Children's Institute for Genomic Medicine (RCIGM) has launched a program that aims to advance newborn screening for treatable genetic diseases through rapid whole-genome sequencing.

RCIGM said it is evaluating the scalability of a diagnostic and precision medicine guidance tool called BeginNGS.

Developed through a research collaboration with Alexion, AstraZeneca's rare disease group, Fabric Genomics, Genomemon, Illumina, and TileDB, the tool uses blood-spot samples to screen newborns for approximately 400 genetic diseases that have known treatment options.

Although this type of screening is now used when children are already very sick, the new tool uses whole-genome sequencing to diagnose and identify treatment options for genetic conditions before symptoms begin, RCIGM said.

When a diagnosis is made, BeginNGS uses genome-to-treatment, a tool that provides immediate treatment guidelines for physicians to help them understand genetic conditions and their available treatment options.

The developers of BeginNGS aim to deploy the tool to supplement newborn screening protocols at birthing hospitals throughout the U.S.

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