Doha, Qatar – August 19, 2025 – Rady Children’s Institute for Genomic Medicine (RCIGM®) has announced a groundbreaking international partnership with Sidra Medicine, a leading specialty healthcare organization serving women, children, and young people in the State of Qatar. This collaboration marks a significant milestone as Sidra Medicine becomes the first international site of the BeginNGS (pronounced “beginnings”) genome-based newborn screening program, heralding a new era in precision neonatal healthcare deployment on a global scale.
Under the visionary leadership of Dr. Ammira Al-Shabeeb Akil, Director of the Metabolic and Mendelian Translational Research Program at Sidra Medicine, this alliance focuses on harnessing next-generation sequencing (NGS) technologies to revolutionize early detection protocols for genetic and metabolic disorders. The collaboration aims to implement cutting-edge genomic approaches that enable rapid, accurate diagnosis, facilitating timely interventions that mitigate lifelong disabilities and mortality associated with severe childhood diseases. This initiative complements Sidra Medicine’s regional NOOR-QATAR program—already a trailblazer in large-scale newborn genomic screening within the Middle Eastern population—and sets new benchmarks for precision medicine in the Gulf region.
Dr. Akil emphasized the urgent clinical necessity for such innovation, addressing the diagnostic odyssey many families endure while seeking answers for rare pediatric conditions. “Children with genetic diseases often wait an average of five years for a definitive diagnosis, resulting in delayed treatment and increased morbidity,” she explained. “BeginNGS builds upon our successful NOOR-QATAR efforts by integrating state-of-the-art genomics tools and analytical pipelines that not only identify rare monogenic disorders but also assess polygenic risk factors for complex diseases such as type 1 diabetes. This has the profound potential to transform pediatric healthcare outcomes in Qatar and beyond.”
Translational genomic medicine lies at the core of Sidra Medicine’s research strategy, with a sharp focus on monogenic and multifactorial disorders. Professor Khalid Fakhro, Chief Research Officer at Sidra Medicine, articulated the strategic value of this partnership: “Joining the BeginNGS Consortium accelerates our capacity to deploy best-in-class sequencing protocols adapted to our unique population genetics. By incorporating customized bioinformatics algorithms and leveraging comprehensive variant interpretation frameworks, we can dramatically reduce diagnostic latency and ensure early therapeutic interventions. This endeavor delivers on our mission to provide personalized genomic healthcare from birth, ultimately improving quality of life for children impacted by rare diseases.”
From the perspective of RCIGM, international expansion of BeginNGS is pivotal in augmenting comprehensive epidemiological understanding of rare disease incidence across diverse genetic landscapes. Stephen Kingsmore, MD, DSc, President and CEO of RCIGM, stressed the critical importance of regional diversity in genomic screening programs. “Rare diseases exhibit variable prevalence influenced by ethnic and geographic factors. By extending BeginNGS to Sidra Medicine, we harness invaluable data from Middle Eastern populations, refining screening panels and treatment algorithms accordingly. Our shared vision is for Qatar’s citizens to benefit from lifesaving genomic interventions that are otherwise unavailable, advancing global health equity.”
The BeginNGS platform itself represents a sophisticated integration of massively parallel sequencing technologies, proprietary variant calling algorithms, and rigorous clinical validation standards. Recent studies published in The American Journal of Human Genetics have demonstrated that BeginNGS reduces false positive rates by an unprecedented 97 percent compared to conventional newborn screening methods, while enabling earlier detection of over 500 severe pediatric conditions. This robust performance is critical to avoid unnecessary psychological burdens on families and reduce follow-up diagnostic testing, underscoring the clinical utility and cost-effectiveness of genome-first approaches.
As the BeginNGS program scales internationally, it seeks to screen for 1,000 childhood diseases across at least 10 countries by 2030. The Consortium includes leaders from healthcare delivery, biotechnology, pharmaceutical development, information technology, and patient advocacy sectors. Together, they endeavor to create a scalable genomic medicine ecosystem capable of adapting to country-specific regulatory frameworks, healthcare infrastructures, and population-specific genetic variability.
Tom DeFay, PhD, Vice Chair of BeginNGS and Deputy Head of Diagnostics at Alexion, highlighted the broader ethical and social implications of the program. “Living with a rare genetic disease is frequently characterized by delayed diagnosis and unequal access to care. BeginNGS offers an equitable solution by dramatically shortening diagnostic timelines, enabling earlier access to targeted treatments. This innovation is not only a scientific breakthrough but a transformative step toward health equity for vulnerable pediatric populations globally.”
Sidra Medicine’s role as a regional genomic medicine hub will also include the development of refined screening algorithms tailored to the Qatari population’s genetic architecture, which is characterized by unique founder mutations and high consanguinity rates. These factors complicate traditional diagnostic pathways but provide rich datasets to advance variant curation and interpretation methodologies. The partnership will leverage high-throughput sequencing infrastructures, cloud computing resources, and multidisciplinary clinical genetics expertise to ensure real-time workflows that integrate genomic data into newborn care pathways efficiently.
Moreover, this collaboration reflects a paradigm shift in the role of genomics not only as a diagnostic tool but as a foundational element of preventive healthcare strategies. By identifying infants at risk for metabolic and genetic conditions before symptom onset, clinicians can initiate surveillance protocols, dietary modifications, or pharmacological treatments that prevent irreversible organ damage or developmental delay. The implications extend beyond individual patient care, offering population health benefits by reducing the burden on healthcare systems and empowering families with knowledge critical to lifelong well-being.
In addition to expanding the clinical repertoire of newborn screening, the BeginNGS initiative pioneers the inclusion of polygenic risk scores (PRS) for complex diseases such as type 1 diabetes, which, until recently, have been largely omitted from neonatal screening panels. Integrating PRS in newborn screening provides a proactive framework for genetic risk stratification, facilitating early lifestyle interventions and innovative preventative therapies, ultimately transforming chronic disease management paradigms.
The success of this international expansion will also rely heavily on the development and maintenance of secure, interoperable data-sharing networks that respect patient privacy and comply with international data governance standards. The BeginNGS Consortium is actively working on establishing such frameworks, ensuring that genetic data generated in Qatar and other countries is responsibly utilized to enhance diagnostic accuracy and expand the global knowledge base on rare genetic diseases.
This partnership cements Qatar’s position at the forefront of genomic medicine innovation in the Middle East, affirming Sidra Medicine’s commitment to integrating advanced precision medicine approaches into routine clinical practice. The convergence of RCIGM’s proven expertise in genomic newborn screening with Sidra Medicine’s regional healthcare infrastructure and research capabilities promises to catalyze a transformative impact on neonatal care standards worldwide.
As BeginNGS continues its trajectory toward global implementation, the model established through this collaboration will serve as a blueprint for future cross-border genomic health initiatives. By harmonizing scientific excellence with cultural and healthcare system sensitivities, this program embodies the future of genomic medicine — one that is inclusive, equitable, and patient-centered.
Subject of Research:
Genome-based newborn screening for rare and complex pediatric genetic diseases.
Article Title:
Rady Children’s Institute for Genomic Medicine Partners with Sidra Medicine to Launch BeginNGS Program in Qatar
News Publication Date:
August 19, 2025
Web References:
Image Credits:
RCIGM
Keywords:
Genetics, Genomics, Newborn Screening, Rare Diseases, Precision Medicine, Next-Generation Sequencing, BeginNGS, Pediatric Genomics, Type 1 Diabetes, Polygenic Risk Scores, Health Equity, Translational Medicine
