The Rady Children’s Institute for Genomic Medicine is launching a program to promote newborn screening for treatable genetic diseases


About the first study to fund BeginNGS

RCIGM is currently in the early stages of a pilot evaluation, which includes optimization of automated genome sequencing and analysis, with the goal of curating a high-quality set of variants to enable testing for approximately 400 genetic disorders. In the following phases, study recruitment will begin, followed by system optimization and the expansion of the tests to around 500 diseases and several thousand cases. The ultimate goal is for BeginNGS to become the standard for screening for genetic diseases, expanding testing to approximately 1,000 conditions and sequencing 3.7 million newborns annually.

BeginNGS aims to end-to-end complement existing newborn screening protocols in maternity hospitals The United States. At the time of birth, blood samples are taken and sent to a laboratory where rWGS, genomic analysis, and interpretation are performed for about 400 early-onset and actionable genetic disorders. If a positive screening result is noted, a confirmatory diagnostic interpretation will be performed before a result is returned to the prescribing physician. In addition, GTRx provides physicians with guidance on known medical treatment options, including all available treatments.

Building a leading public-private BeginNGS consortium

Established leaders in genomics and biotechnology, including founding members Alexion, Travere Therapeutics and Inozyme Pharma, will play a critical role in advancing this program toward a potential paradigm shift in newborn screening for treatable rare genetic diseases. The BeginNGS consortium will include representatives from patient advocacy and the biomedical ecosystem, who will collectively provide strategic and technical expertise.

“Alexion is proud to be a founding member of the RCIGM BeginNGS Consortium to help accelerate newborn screening through whole genome sequencing,” he said Tom Defay, Alexion’s Associate Director, Diagnostics Strategy and Development. “We look forward to continuing our support and providing strategic leadership and technical expertise to advance this technology in hopes of transforming the diagnostic odyssey for patients with genetic rare diseases.”

Other partners include PlumCare RWE, which will coordinate and launch a national WGS pilot program this year Greeceas indicated by the scientific director Petros Tsipouras, MD; and LunaPBC, Inc., which will serve as a privacy-enabled collaborative platform to advance disease understanding and enable the discovery of potential new interventions that leverage parents’ intrinsic roles as partners in research and ongoing care.

Rare disease advocacy groups will also have an important voice in the consortium, bringing the perspective of those who have worked for many years to expand the traditional newborn screening board to include treatable genetic disorders.

“The extension of rWGS to newborn screening is important work with the potential to end years of torturous diagnostic odysseys while providing important data on the true prevalence of rare diseases,” he said Charlene’s son Rigby, CEO of RARE-X, a collaborative platform for global data sharing and analytics to accelerate rare disease treatment. “Early diagnosis of rare disease patients will also open the door to ongoing symptom monitoring and the collection of critical natural history data.”

“Most neurodevelopmental disorders are not accounted for in current newborn screening tests, and these children face a lifetime of disability and even death if not diagnosed early enough,” said Dr. Terry Jo Bichell, Executive Director of COMBINEDBrain, a consortium dedicated to accelerating the journey to clinical treatments for people with severe rare genetic non-verbal neurodevelopmental disorders. “This project will save lives in rare genetic neurodevelopmental disorders and demonstrate that genetic testing in newborns saves lives.”

The National Hemophilia Foundation and the Indiana Hemophilia and Thrombosis Center are helping to provide submissions on bleeding and coagulation disorders to be included in the BeginNGS screening panel and provide guidance on treatments, causative mutations, and samples for testing.

Address the need for improved newborn screening tools

Traditional newborn screening is one of the most successful public health programs. Out of almost 4 million babies born in in every year The United States, 98 percent are tested in the first few days of life. The test identifies serious childhood illnesses that have effective treatments. States are currently screening only 31 to 76 of hundreds of serious childhood genetic disorders for which treatments are available. Adding a new condition to screening is slow (5-6 years per condition), laborious and costly. Over the past decade, WGS has increased in speed, diagnostic power, and scalability. BeginNGS will not replace current biochemical newborn screening – rather, it is intended to complement existing newborn screening processes and infrastructure.

“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 the Rady Children’s Institute for Genomic Medicine:

We are transforming pediatric critical care by advancing disease-specific healthcare for infants and children with rare diseases. The Institute’s discoveries enable rapid diagnosis and targeted treatment of critically ill neonatal 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 the delivery of this life-changing technology to enable the use of Rapid Precision Medicine™ in children’s hospitals across the country and around the world. RCIGM is a non-profit research institute embedded within Rady Children’s Hospital and Health Center. Learn more at follow us on Twitter and LinkedIn.

Media contact:
Ben Metcalf
Cellphone: (619) 822-8593
[email protected]

SOURCE The Rady Children’s Institute for Genomic Medicine (RCIGM)


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