#Qatar #Doha #Sidra Medicine #BeginNGS #Rady Children's

New International Collaboration in Newborn Genetic Screening

In an important stride for global healthcare, the Rady Children’s Institute for Genomic Medicine (RCIGM) has announced a groundbreaking partnership with Sidra Medicine in Qatar. This landmark collaboration marks the launch of the BeginNGS (pronounced 'beginnings') newborn screening program, designed to identify over 1,000 treatable genetic disorders in newborns.

Sidra Medicine, known for its excellence in providing specialty healthcare for women and children in Qatar, positions itself as the first international site for the BeginNGS Consortium. This initiative aims to enhance the diagnosis and management of genetic diseases right from birth, potentially saving countless lives by facilitating early intervention.

Under the leadership of Dr. Ammira Al-Shabeeb Akil, a recognized authority in genomic medicine, Sidra Medicine's Division of Genetic and Genomic Medicine promises to advance healthcare capabilities by incorporating the BeginNGS program into its operations. Dr. Akil expressed enthusiasm about the partnership, stating, "This newborn screening program has the potential to save lives by identifying rare diseases at the very beginning of life." This initiative draws from her significant contributions to Qatar’s first large-scale newborn genome screening project, known as NOOR-QATAR.

The essence of BeginNGS lies in its objective to minimize the time families spend searching for answers regarding genetic disorders affecting their children — a journey that can often take an average of five years. The collaboration follows a comprehensive strategy to broaden the approach to health equity, tailoring genetic screenings to meet the specific needs of diverse populations in the region.

The implementation of BeginNGS is set to expand internationally with a vision of scaling operations to include at least 1,000 diseases in various countries by 2030. As Stephen Kingsmore, MD, DSc, President and CEO of RCIGM articulates, "Expanding internationally is critical for our understanding of the incidence of rare diseases across different geographies and to identify appropriate treatments before the onset of symptoms."

Together, the BeginNGS Consortium aims to tackle the inequities that families face when living with rare diseases. By alleviating the burdens associated with delayed genetic diagnoses, the partnership promises to provide equitable healthcare solutions for families affected by genetically based rare diseases. This sentiment was echoed by Tom DeFay, PhD, Vice Chair of BeginNGS, who emphasized the importance of the collaboration in advancing global diagnostic tools for rare genomic conditions.

The new phase of BeginNGS builds upon substantial prior research, including studies published in The American Journal of Human Genetics, which highlight that the program has significantly reduced false positives by 97% while also allowing for earlier genetic disease diagnoses. By identifying infants at risk before symptoms manifest, the program poses a substantial decrease in tragic outcomes associated with untreated genetic disorders.

As BeginNGS continues to expand within the United States and internationally, its foundation is supported by a consortium of healthcare delivery organizations, biopharma companies, and patient advocacy groups. This collaborative ecosystem embodies a commitment to scalable and personalized genome-informed healthcare that ensures optimal health outcomes for newborns around the world.

In conclusion, the strategic alliance between Rady Children’s Institute and Sidra Medicine sets a precedent for global healthcare innovation and reinforces the importance of international collaboration in addressing healthcare disparities. As BeginNGS moves forward, it stands to not only revolutionize newborn screening processes but also redefine how genetic conditions are diagnosed and treated on a global scale.