Two New York birth hospitals have been selected to partner with the Wadsworth Center as recruitment sites for BEACONSNBS (Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening), a national research study evaluating the use of genome sequencing in newborn screening.
The New York State Newborn Screening Program at the Wadsworth Center is one of seven programs nationwide chosen to participate in this NIH-funded initiative. NYC Health + Hospitals/Elmhurst in Queens and Albany Medical Center in Albany have agreed to serve as New York’s recruitment sites. At these hospitals, trained coordinators will offer optional, supplemental genome sequencing to families of newborns through an informed consent process. Each hospital delivers approximately 2,500 infants annually.
Elmhurst Hospital serves a highly diverse population in western Queens, with patients representing communities from South and Central America, Asia, the Caribbean, and Eastern Europe. Albany Medical Center will serve as the first recruitment site for a newborn screening pilot study in upstate New York. Families of infants born elsewhere in New York State will also have the option to enroll online.
The BEACONSNBS study aims to evaluate how genome sequencing can be responsibly, equitably, and sustainably integrated into existing public health newborn screening programs. The study will assess feasibility, as well as the perspectives and experiences of parents, clinicians, public health professionals, and other stakeholders.
Currently, the New York State Newborn Screening Program screens infants for more than 50 conditions at birth. In contrast, the BEACONSNBS panel includes 746 genes associated with 777 conditions – many of which cannot be detected using traditional biochemical methods applied to dried blood spot specimens. The pilot will use genomic testing to identify conditions such as inherited metabolic disorders, cardiac conditions, and hereditary cancer predisposition syndromes. All conditions included are actionable in the first year of life, with early detection expected to improve health outcomes.
Testing and analysis will be conducted by a New York State-permitted clinical laboratory. Infants with positive screening results will be referred to specialists for confirmatory testing, evaluation, and treatment. Several thousand New York State families are expected to enroll, with recruitment anticipated to begin in summer 2026.
BEACONSNBS is led by investigators from leading academic and public health institutions, including Mass General Brigham, Ariadne Labs, Harvard Medical School, Boston Children’s Hospital, Albert Einstein College of Medicine, Children’s Hospital at Montefiore, Case Western Reserve University, Baylor College of Medicine, and the Association of Public Health Laboratories, in collaboration with GeneDx, Illumina, and additional partners.