BeginNGS to screen newborns for more than one thousand treatable genetic disorders
Rady Children’s Institute for Genomic Medicine (RCIGM®) today announced an agreement with Sidra Medicine, a world-class specialty healthcare organization for women, children and young people in the State of Qatar, to collaborate on implementing RCIGM’s genome-based newborn screening program, BeginNGS (pronounced “beginnings”). Sidra Medicine joins the BeginNGS Consortium as the first international BeginNGS site.
Under the leadership of Dr. Ammira Al-Shabeeb Akil, Director of the Metabolic and Mendelian Translational Research Program at Sidra Medicine, the collaboration with BeginNGS will advance the detection of genetic and metabolic diseases and enable timely interventions that lessen and prevent suffering among children. The partnership extends Sidra Medicine’s efforts to establish the first large-scale newborn genome screening research initiative in the region (NOOR-QATAR), which will also set a new standard for preventative medicine in genomics.
Dr. Akil, Lead Principal Investigator at Sidra Medicine said: “Families often face a diagnostic odyssey for childhood genetic diseases, with children waiting an average five years for a confirmed diagnosis. The BeginNGS Consortium builds upon our successful launch of the NOOR-QATAR newborn screening program, benefiting from the expertise of an exceptional consortium of partners targeting the potential to save lives by identifying rare diseases and assessing polygenic risk for conditions such as type 1 diabetes.”
“The implementation of translational genomic medicine for a wide range of rare and complex diseases, including monogenic disorders and type 1 diabetes, is a key part of our research strategy at Sidra Medicine. We are proud to join the BeginNGS Consortium, which will allow us to accelerate the implementation of best-in-class protocols to advance precision medicine from birth,” said Prof. Khalid Fakhro, Chief Research Officer at Sidra Medicine. “Through this partnership, we will develop screening algorithms tailored to our population and shorten the path from diagnosis to intervention by picking up conditions as early as possible, thus giving children with rare and metabolic disorders in Qatar and the region the best possible start in life.”
“Expanding internationally is critical for our understanding of the incidence of rare diseases across different geographies and to identify appropriate, available treatments at or before the onset of symptoms,” said Stephen Kingsmore, MD, DSc, President & CEO of RCIGM. “It is our shared vision for Sidra Medicine to be among the first of our international sites, to make the benefits of newborn therapies for severe childhood diseases, available to every citizen in Qatar.”
As the BeginNGS program scales and expands across the United States and internationally, Consortium members will support the program goal of implementing BeginNGS for 1,000 diseases in at least 10 countries by 2030.
“Living with a rare disease is inherently inequitable, but by lessening the burden of the diagnostic odyssey, we can advance health equity solutions for patients with genetically based rare diseases and their families,” said Tom DeFay, PhD, Vice Chair of BeginNGS and Deputy Head of Diagnostics at Alexion. “We look forward to continuing to support the BeginNGS Consortium and its members in advancing the global reach of critical diagnostic tools — the first step in the journey to care and treatment.”
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