Robert C. Green, MD, MPH; Ingrid A. Holm, MD, MPH; Melissa Wasserstein, MD; Nina Gold, MD, MS
Jelili Ojodu, MPH; Sikha Singh, MHS, PMP; Guisou Zarbalian, MPH; Carrie Blout Zawatsky, MS, CGC; Stuart Lipsitz, PhD; Aaron Goldenberg, PhD; Stacey Pereira, PhD; Britt Johnson, PhD; Nicole Kelly, MPH
Background
- Shortly after birth, all babies in the U.S. undergo routine newborn screening (NBS). NBS saves and improves the lives of thousands of babies each year by detecting rare diseases that might otherwise go unnoticed until it’s too late for treatment.
- The NBS test is done by taking a small amount of blood from a baby’s heel to check for several medical conditions that have a treatment shortly after birth. Currently this test is mostly done with biochemical testing, which limits which genetic conditions NBS programs can test for. There is also variability among states in which conditions are included.
- As technologies like gene therapies, gene editing, and drug therapies advance, newborn sequencing will allow states to rapidly add new conditions, so that more children who are at risk can be identified early and treated. The NIH-funded BEACONS study is the first national program to offer genomic newborn sequencing, partnering with seven state newborn screening programs to understand the feasibility of integrating genomic newborn screening into the existing public health NBS programs.
- In addition to receiving traditional NBS, BEACONS will provide families with the option to consent to learn about hundreds of additional conditions that have treatments in the first year of life.
Recruitment and enrollment will not begin until this project has received feedback from the various stakeholders and has received approval from the various institution and state ethical boards (IRBs) reviewing the project. With that in mind we hope that BEACONS will begin enrolling as soon as Spring of 2026.
For more detailed information about the BEACONS Project, including recruitment and eligibility details, study design and outcome measures, visit our research study page, found here. You may email the research team at info@beaconsnbs.org.
