Novel Pilot Program to Focus on Genetic Diseases and Precision Medicine

A newly launched program is designed to advance a diagnostic and precision medicine approach in newborns.

The Rady Children’s Institute for Genomic Medicine (RCIGM®) recently announced the initiation of a pilot program designed to advance a diagnostic and precision medicine guidance tool known as BeginNGS™. RCIGM is a non-profit, research institute embedded within Rady Children’s Hospital and Health Center in San Diego, CA.

Pronounced “beginnings,” the tool employs rapid Whole Genome Sequencing (rWGS®) to screen newborns for about 400 genetic diseases for which there are existing treatment options. BeginNGS™ is meant to identify viable treatment options before the onset of symptoms – this would represent an improvement on current pediatric applications of rWGS that are typically used in children who are already very ill.

After a diagnosis is made, a follow-up Genome-to-Treatment (GTRx™) tool provides physicians with immediate and specific treatment guidelines. GTRx™ helps clinicians to understand these genetic conditions and the corresponding treatment options. Depending on the scenario, these options may include some combination of 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.”

BeginNGS™ is the product of a collaboration between RCIGM®, Alexion, AstraZeneca’s Rare Disease group and several other companies specializing in genomics, precision medicine, and data management technologies.

According to a RCIGM® press release, 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.

“Genetic diagnosis was a key recommendation of the recently published diagnosis and treatment guidelines for von Willebrand Disease (VWD). Access to and reimbursement for genetic testing in VWD and many of the rare and ultra-rare factor deficiencies as well as rare platelet disorders and a myriad of rare blood disorders opens the door to access to care and potentially treatment,” explained Len Valentino, President and CEO of NHF. “More emphasis on genetic medicines was a key point made by former NIH Director Francis Collins, MD, PhD in his keynote presentation at the 25th Annual Meeting of the American Society of Cell and Gene Therapy. Of the more than 7000 rare disorders with a genetic basis, less than 500 have a therapy available. Programs like BeginNGS™ offer the opportunity to take the first step in the process- diagnosis, from which treatment may follow. The National Hemophilia Foundation is excited to partner with RCIGM® on this important initiative.”

Read the full release.

Source: RCIGM news release dated June 2022

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