Rady Children's Institute for Genomic Medicine Launches Program to Advance Newborn Screening for Treatable Genetic Diseases

BeginNGS™ to accelerate newborn screening by rapid whole genome sequencing to help diagnose and treat genetic diseases with available therapies

SAN DIEGO, June 14, 2022 /PRNewswire/ -- Rady Children's Institute for Genomic Medicine (RCIGM®) today announced a novel program to advance and evaluate 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 (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.

"RCIGM helped pioneer the use of rWGS for diagnosis of genetic disease in intensive care settings," said Stephen Kingsmore, MD, DSc, President & CEO of RCIGM. "With the clinical utility of diagnostic rWGS proven, we are using that experience to screen, diagnose, and help treat genetic conditions at or before onset of symptoms. Through a public-private consortium of leading organizations and advocacy groups in pediatrics, genetics, biopharma, biotech, and information technology we aim to scale newborn sequencing to every life-threatening childhood genetic disease that has an effective treatment."

RCIGM is currently in the beginning stages of a pilot evaluation, which includes optimizing automated genomic sequencing and analysis, with the goal of curating a high-quality set of variants to enable testing for approximately 400 genetic disorders. In subsequent stages, study enrollment will begin, followed by system optimization and testing expansion to ~500 disorders and several thousand cases. The ultimate goal is for BeginNGS to become the genetic disease screening standard, with testing expanding to ~1,000 disorders and sequencing of 3.7 million newborns annually.

BeginNGS aims to supplement existing newborn screening protocols at birthing hospitals throughout the United States. 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. When a positive screening result is detected, a confirmatory diagnostic interpretation will be completed before a result is returned to the ordering physician. Additionally, physicians will be provided with guidance on known medical management options through GTRx, including all available treatments.

Established leaders in the genomics and biotech space, including Founding Members Alexion, Travere Therapeutics, and Inozyme Pharma will play a critical role to help advance this program towards a potential paradigm shift in newborn screening for treatable rare genetic diseases. The BeginNGS consortium will include representation from patient advocacy groups 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 by whole genome sequencing," said Tom Defay, Alexion's Deputy Head, Diagnostics Strategy and Development. "We look forward to continuing our support and providing strategic leadership and technical expertise to advance this technology with the hope of transforming the diagnostic odyssey for patients with genetically-based rare diseases."

Additional collaborators include PlumCare RWE, which will coordinate and launch a national pilot WGS program this year in Greece, as indicated by scientific director Petros Tsipouras, MD; and LunaPBC, Inc., which will serve as the privacy-enabled collaboration platform to advance disease understanding and enable the discovery of potential new interventions leveraging in-system roles for parents as partners in research and ongoing care.

Rare disease advocacy groups will also provide an important voice in the consortium, providing the perspective of those who have worked for many years to add treatable genetic disorders to the traditional newborn screening panel.

"Expanding rWGS to newborn screening is important work with the potential to end agonizing years-long diagnostic odysseys while yielding critical data on the true prevalence of rare disorders," said Charlene Son Rigby, CEO of RARE-X, a collaborative platform for global data sharing and analysis to accelerate treatments for rare disease. "Early diagnosis of rare disease patients will also open the door to ongoing monitoring of symptoms and gathering of critical natural history data."

"Most neurodevelopmental disorders are not included on the current newborn screening tests and these children face a life of disability and even death if they are not diagnosed early enough," said Dr. Terry Jo Bichell, Executive Director of COMBINEDBrain, a consortium devoted to speeding the path to clinical treatments for people with severe rare genetic non-verbal neurodevelopmental disorders. "This project will be life-saving for rare genetic neurodevelopmental disorders and will demonstrate that newborn genetic testing saves lives."

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

Traditional newborn screening is one of the most successful public health programs. Of nearly 4 million babies born annually in the United States, 98 percent are tested in the first days of life. The test identifies serious childhood diseases that have effective treatments. States currently screen for only 31 - 76 of the hundreds of severe, childhood genetic diseases that have available treatments Adding a new condition to the screen is slow (5-6 years per condition), laborious and costly. In the last decade, WGS has increased in speed, diagnostic performance, and scalability. 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.

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.

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