Rady Children's Institute for Genomic Medicine and PlumCare RWE Partner to Expand Newborn Screening Program to Greece

BeginNGS Greece beginnings.gr to Be First International Site

SAN DIEGO and ATHENS, Greece, Oct. 3, 2022 /PRNewswire/ -- Rady Children's Institute for Genomic Medicine (RCIGM®) and PlumCare RWE, a Biotechnology and HealthCare data company, today announced a partnership to establish the first international site for BeginNGS™ (pronounced "beginnings"), a pilot program to screen newborns for approximately 400 genetic diseases that have known treatment options using rapid Whole Genome Sequencing (rWGS®).

BeginNGS, developed through a research collaboration with Alexion, AstraZeneca's Rare Disease group; Fabric Genomics; Genomenon; Illumina, Inc.; and TileDB, uses rWGS to diagnose and identify treatment options for genetic conditions before symptoms begin, 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.

Working closely with EODY, the national public health organization in Greece, PlumCare plans to recruit at least 1,000 families at academic sites in Athens (EKPA-Alexandra Hospital), Thessaloniki (AUTH-Papageorgiou Hospital), and Larissa (University of Thessaly-University Hospital) to participate in the pilot program.

"Early detection-early intervention-better outcome is becoming a reality through this pioneering program," said Petros Tsipouras, MD, CEO and Co-Founder of PlumCare RWE. "Partnering with RCIGM to bring this program to Greece is an exciting opportunity for PlumCare RWE and its academic partners of the beginnings.gr consortium. It will provide an integrated clinical management system which will impact the lives and well-being of many children and their families".

"Partnering with PlumCare represents a vital step toward ending the diagnostic and therapeutic odyssey for children with treatable genetic diseases around the world," said Stephen Kingsmore, MD, president and CEO of RCIGM. "By expanding beyond the borders of the United States, PlumCare's participation supports our important focus on including diverse international populations."

With robust whole genome sequencing capabilities already in place through its collaboration with the Institute of Applied Biosciences in Thessaloniki Greece, PlumCare has the necessary infrastructure to support the pilot program and become the driver of an international BeginNGS consortium.

"This is an important initiative that we fully support because it brings actionable treatments for individuals to improve outcomes for our children, delivers the latest translational medical science to Greek families and it places Greece in a foundational position to further newborn genomic screening," said Theoklis Zaoutis, MD, President, National Public Health Organization.

As in the United States, BeginNGS Greece 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 rWGS, 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 will not replace the current biochemical newborn screening – rather, it is designed to complement the newborn screening processes and infrastructure that are already in place.

"With hundreds of new gene therapies and orphan drugs in development, RCIGM believes now is the time to end the diagnostic and therapeutic odyssey for all children with treatable genetic diseases," said Dr. Kingsmore.

About Rady Children's Institute for Genomic Medicine:

We are transforming pediatric critical care by advancing disease-specific healthcare for infants and children with rare disease. Discoveries at the Institute are enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients at Rady Children's Hospital-San Diego and a growing network of more than 60 children's hospitals nationwide. The vision is to expand delivery of this life-changing technology to enable the practice of Rapid Precision Medicine™ at children's hospitals across the nation and the world. RCIGM is a non-profit, research institute embedded within Rady Children's Hospital and Health Center. Learn more at RadyGenomics.org. Follow us on Twitter and LinkedIn.

About PlumCare RWE:
PlumCare RWE (Delaware, USA) is a Biotechnology and Healthcare data company. It combines real world evidence and multi-omics analysis to deliver actionable insights for individuals, companies and populations focusing on children. It is building a Global Pediatric Databank that can impact individual and population health and facilitate drug development and discovery. Its European headquarters is based in Athens, Greece.

Media Contact: Michael Sullivan
Cell: (503) 799-7520
msullivan@spectrumscience.com

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SOURCE Rady Children's Institute for Genomic Medicine