What is BEACONS?

A research project that is expanding traditional newborn screening programs to allow them to, for the first time ever, offer large-scale newborn genome screening as part of the existing state newborn screening programs.

This NIH-funded study will give parents of newborns in several states and territories across the U.S. the opportunity to screen their baby’s DNA for up to hundreds of health conditions that are medically actionable in the first year of life.

Parents will be offered the option to consider consenting and enrolling for newborn genomic sequencing shortly after birth and/or in the prenatal period soon before birth. This study will engage with the community through an active Community Advisory Board (CAB) and early input from key stakeholders, including local newborn screening programs, that will provide important input into the project design.

The goal of this study will be to better understand the feasibility of offering genomic newborn screening as part of the already existing state newborn screening programs, including understanding the interest, uptake and reactions of parents, the newborn screening public health community, clinicians and other important stakeholders.

This project will pave the way for newborn screening programs, doctors, and scientists to understand if parents and states are ready, willing, and able to offer newborn genomic sequencing, and better understand how it might impact the lives of newborns and their parents, while ensuring it is introduced thoughtfully and responsibly nationwide.

Participant Family Journey.

Interested families of newborns in participating states will have the option to learn, ask questions and consent to the BEACONS study.

Participants will be screened for conditions that have some type of improved medical management, treatment or prevention in childhood. They will be informed of their results and any needed follow-up by their healthcare team.

Step 1

Introduction

Participating family is informed of the opportunity to participate in the Beacons Project.

Step 2

Education

Participating family learns about what the screening involves, including its benefits and risk.

Step 3

Decision / Consent

Participating family chooses if they want to participate and signs a form of consent.

Step 4

Completion

Participating family’s newborn undergoes the routine newborn screening heel stick that is part of clinical care. BEACONS does not change, delay, or replace routine newborn screening. Once complete, the remaining specimen is sent to the genomic screening, if the family has consented to BEACONS.

Step 5

Results

Participating family is provided the results and recommendations for follow-up.

Step 6

Action

Participating family talks with their baby’s doctor and decides what, if any, actions they want to take based on the results.