From Drop of Blood to World of Data: Genomic Newborn Sequencing

Newborn screening is one of public health's great success stories — a routine heel-stick test that has saved countless lives since its introduction in the 1960s. Today, every infant born in the United States is screened for approximately 40 conditions on the Recommended Uniform Screening Panel (RUSP). Yet advances in whole genome sequencing now raise a compelling possibility: that a single genomic test, performed at birth, could identify nearly 800 treatable genetic conditions before a child ever shows symptoms. BEACONS-NBS (Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening) is a multi-institutional, NIH-funded research program dedicated to studying whether genomic newborn screening can be implemented feasibly, equitably, and responsibly within existing U.S. public health infrastructure. Spanning seven states and territories — Oregon, Texas, Minnesota, Iowa, New York, South Carolina, and Puerto Rico — the program aims to enroll up to 30,000 newborns, while rigorously evaluating the scientific, programmatic, and human dimensions of large-scale genomic screening. This includes developing consent processes, clinical decision-support tools, specialist referral pathways, and frameworks for communicating complex results to families and healthcare providers alike. This presentation offers an overview of the BEACONS-NBS program — its scientific goals, its ethical commitments, and what its findings could mean for the future of preventive medicine and child health in the United States.

Vilma Kodyte, MS is a Research Assistant with the Genomes2People research group based at the Brigham and Women’s Hospital. She supports projects spanning clinical ethics and genomics, contributing specifically to the BEACONS-NBS project, investigating the implementation of whole genome sequencing into newborn screening, and the PRISM project within the MAGen Consortium, developing frameworks to guide the ethical development of machine learning models aiming to predict disease manifestation. Her work focuses on the ethical, clinical, and translational challenges of integrating genomic information into patient care across reproductive and pediatric care settings, with particular emphasis on data interpretation, responsible communication, and equity in precision medicine. She supports the development of tools and frameworks to guide clinicians and patients in navigating complex genomic results and emerging technologies. She holds a B.A. in Biochemistry from Reed College and a M.S. in Bioethics from Harvard Medical School.

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