San Diego—May 19, 2025–Rady Children’s Institute for Genomic Medicine (RCIGM®) today announced that Alexion, AstraZeneca Rare Disease has signed on as the first Platinum member of the BeginNGS (pronounced “beginnings”) Consortium, building on an existing nine-year collaboration which has catalyzed innovation in rare disease diagnostics.
The BeginNGS Consortium seeks to accelerate adoption of newborn screening by whole genome sequencing to identify babies at risk for hundreds of genetic diseases and recommend effective therapies before symptoms arise. Membership of the Consortium reflects the breadth of the rare disease ecosystem, including leading organizations across healthcare delivery, biopharma, biotech, information technology, healthcare systems, providers and patient advocacy organizations. Platinum, Gold, Silver and Bronze members are expected to contribute their unique expertise and capabilities to advance genome-informed healthcare delivery that can scale to meet the needs of countries worldwide.
As the Consortium expands its programs and membership across the United States and internationally, platinum membership by Alexion will support the Consortium’s goal of implementing BeginNGS for 1,000 diseases in at least 10 countries by 2030.
Alexion, a pioneer of rare disease innovation for over 30 years, will provide strategic counsel, financial support and technical and scientific expertise and will continue to collaborate with additional members as the Consortium grows globally.
“Building on nearly a decade of partnership, we are excited to further strengthen our collaboration with Alexion as our first Platinum Member and together champion the promise of genomic medicine for rare diseases worldwide,” said Stephen Kingsmore, MD, DSc, President & CEO of RCIGM. “Through this increased level of support, Alexion will help us advance the implementation of genome-informed newborn screening with the goal of minimizing or preventing childhood suffering from genetic diseases.”
“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 in this new capacity as it seeks to advance the global reach of critical diagnostic tools — the first step in the journey to care and treatment.”
About BeginNGS
Launched by RCIGM and its founding partners in 2022, BeginNGS is designed to prevent or minimize the effects of hundreds of childhood genetic diseases by identifying babies at risk and recommending effective therapies before symptoms arise. Our vision is to implement BeginNGS for 1,000 diseases by 2030 in at least 10 countries. This new phase of BeginNGS is supported by promising results of two studies recently published in The American Journal of Human Genetics showing that the BeginNGS technology platform reduces false positives by 97 percent, diagnoses genetic diseases earlier, and benefits one in 13 infants who might otherwise have tragic outcomes. BeginNGS currently screens for 412 severe childhood genetic diseases with effective interventions at multiple hospitals in the United States.
BeginNGS is made possible by the support and intellectual resources of BeginNGS Consortium members comprised of leading organizations in healthcare delivery, biopharma, biotech, information technology and patient advocacy, who are working together to create a new ecosystem for genome-informed healthcare delivery that can scale to meet the needs of countries worldwide.