The New York State Newborn Screening Program at the Wadsworth Center has been selected to participate in BEACONS (Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening), a national research study evaluating the use of optional, supplemental newborn genome sequencing within existing public health newborn screening systems. The goal of BEACONS is to assess how genome sequencing can be responsibly, equitably, and sustainably integrated into public health newborn screening programs across the United States. The study will evaluate feasibility, parental interest and uptake, and the perspectives of clinicians, public health professionals, and other stakeholders.
New York State’s Newborn Screening Program currently screens infants for more than 50 conditions using high-throughput testing of dried blood spots. The BEACONS pilot expands beyond traditional screening by evaluating a panel of 746 genes associated with 777 conditions, many of which do not have validated biochemical biomarkers suitable for high-throughput screening. Genomic screening through BEACONS will target actionable conditions, including inherited metabolic disorders, cardiac conditions, hereditary cancer predisposition syndromes, and others, for which early identification in the first year of life is expected to improve health outcomes.
Seven newborn screening programs nationwide were selected to participate in the BEACONS pilot. In New York State, two participating birth hospitals will offer the screening to families of newborns using an informed consent process. Families whose infants are born elsewhere in the state will also have the opportunity to enroll online. Genetic testing and analysis will be performed by a New York State-permitted clinical laboratory, and infants with positive screening results will be referred for diagnostic testing, clinical evaluation, and appropriate treatment. Several thousand New York State families are expected to enroll in the study. Recruitment is anticipated to begin in April 2026.