The Rady Children’s Institute for Genomic Medicine (RCIGM) has announced a landmark international collaboration with Sidra Medicine in Qatar to launch the BeginNGS® newborn genome sequencing program—marking a significant step forward in global precision medicine for childhood genetic diseases. According to Fairfax County Times, this partnership brings Sidra Medicine, a leading center for genomic research and care in the Middle East, into the BeginNGS Consortium as its first international site, advancing efforts to screen newborns for over a thousand treatable genetic disorders.
Alpha-1 Antitrypsin Deficiency (AATD), a rare yet serious genetic condition, often goes undiagnosed until irreversible organ damage occurs. Historically, families worldwide have endured long “diagnostic odysseys,” waiting years for answers to their children’s mysterious symptoms. BeginNGS aims to change this reality by harnessing whole-genome sequencing to identify at-risk infants before symptoms emerge, enabling earlier and more effective interventions.
Under the leadership of Dr. Ammira Al-Shabeeb Akil, Sidra Medicine has spearheaded previous genomic initiatives, including Qatar’s first nationwide newborn genome screening program (NOOR-QATAR). Building on this foundation, the partnership with BeginNGS will expand the range of screened diseases and tailor the detection platform to the region’s unique genetic landscape. As Dr. Akil notes, “This newborn screening program has the potential to save lives by identifying rare diseases and aligning treatments at the very beginning of life, and to become a model for precision medicine for childhood genetic disease in the region.”
BeginNGS, launched by RCIGM in 2022, is an innovative program designed to prevent or minimize the effects of hundreds of childhood genetic diseases. Its technology platform has demonstrated remarkable results in recent studies, reducing false positives by 97% and diagnosing conditions earlier, with one in 13 infants benefiting from interventions that might otherwise be missed. Currently, BeginNGS screens for 511 severe pediatric genetic disorders with effective treatments at multiple U.S. hospitals, and the goal is to reach 1,000 diseases in at least 10 countries by 2030.
The collaboration with Sidra Medicine broadens BeginNGS’ reach and impact, bringing genomic equity to more families and populations. Pilot studies in Qatar will help add new diseases relevant to the local population, making the platform more inclusive and effective. “Expanding internationally is critical for our understanding of the incidence of rare diseases across different geographies,” said Dr. Stephen Kingsmore, President & CEO of RCIGM. “It is our shared vision for the State of Qatar to be among the first countries in the world to make the benefits of newborn therapies for severe childhood diseases available to every citizen.”
Supported by a global consortium of healthcare, biotechnology, and advocacy leaders, BeginNGS is building a scalable, ecosystem-based model for genome-informed healthcare. As Tom DeFay of the BeginNGS Consortium observes, “By lessening the burden of the diagnostic odyssey, we can advance health equity solutions for patients with genetically based rare diseases and their families.”
With this partnership, Qatar becomes a regional pioneer in comprehensive newborn genomic screening, setting a new standard for early detection, intervention, and hope for families facing rare genetic diseases worldwide.
