Following recent advances in the treatment of Spinal Muscular Atrophy, our program was an early adopter in implementing this testing. Since then, we have enabled early detection and rapid connection to care for affected infants, significantly improving outcomes across New England.
Newborn Screening
Providing scientifically rigorous screening and analysis so all babies can receive the right medical care when it matters most
Health outcomes for children improve when treatable, often silent conditions are detected in a blood sample collected 24 to 48 hours after birth. Our pioneering scientists deliver high accuracy, rapid, and reliable screening with integrated clinical follow up—accelerating diagnosis and care to treat disabling, sometimes fatal disorders.
Our Areas of Focus
Informed Panel Recommendations
Expert guidance for selecting screening panels that best align with a state’s unique population needs
Laboratory Testing & Result Interpretation
Advanced testing methods with validated algorithm-driven insights and timely clinical guidance for providers
Post-Screening Support
Specialist consultation, guidance on next steps, and real-time recommendations to enable the development of critical, time-sensitive treatment plans
Our Work in Action
Expert Profile
Anne Marie Comeau, PhD, Deputy Director
Professor of Pediatrics, UMass Chan Medical School
Anne leads the development and evaluation of technologies relevant to screening newborns for genetic and infectious disorders, and consults on the development and clinical interpretation of new screening assays.
The impact on the lives of thousands of children and their families drives our work and the work of the whole newborn screening program team. Developing and implementing scientific, clinical, and operational best practices and quality measures ensure that these babies get the best possible start in life.