Beginnings Newborn Sequencing (BeginNGS) Greece is a program that uses whole genome sequencing (WGS) as a screening tool for newborns to identify genetic conditions before infants get sick. We plan to recruit at least 1,000 families in Greece to participate in our BeginNGS pilot program.
There are approximately 400 actionable genetic conditions affecting newborns that can be screened by WGS for which treatments or treatment candidates in clinical trials currently exist. The ultimate goal is for BeginNGS to become the genetic disease screening standard, with testing expanding to ~1,000 disorders and sequencing of all newborns.
BeginNGS uses WGS to diagnose and identify treatment options for genetic conditions before symptoms begin, an advancement over current pediatric uses of WGS 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.
BeginNGS aims to supplement existing newborn screening protocols at birthing hospitals. Blood-spot samples will be collected at the time of birth and sent to a lab where WGS, genomic analysis and interpretation will be performed for approximately 400 early onset and actionable genetic conditions. This will supplement the up to 30 conditions covered by traditional biochemical newborn screening.
BeginNGS is a novel health care delivery system designed to screen newborns for genetic diseases — and connect their doctors with effective treatment options. Genetic diseases are chronic, progressive, and can be life-threatening.
Sometimes the solution is as simple as a vitamin supplement. Other times, the baby can receive cutting-edge gene therapy and grow up to be a typical healthy child, like Fitz Kettler, treated at our Partner Institution Rady Children’s Institute for Genomic Medicine
Beginning Newborn Sequencing (Greece)
President & CEO,
Rady Children’s Institute for Genomic Medicine