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 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 public health labs, 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 public health 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 public health laboratories, NBS 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.

Meet the Team

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 to participate and signs a form of consent.

Step 4

Completion

Participating family’s newborn undergoes the regular newborn screening heel stick that is part of clinical care, the remaining specimen is then sent to the sequencing lab for testing.

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.

Frequently Asked Questions.

  • Shortly after birth, all US babies have a routine newborn screening (NBS) test that checks for many treatable disorders, mostly by biochemical testing.

    BEACONS is a study that will approach the parents and guardians of newborns from 7 states around the US. Parents and guardians interested in participating will have the option to consent to have their baby screened for hundreds of additional rare disorders that are treatable in some way in the first year of life.

    Treatments may include or involve things like special diets, medications, or new clinical trials. The goal of the BEACONS is to understand the feasibility of integrating newborn genomic sequencing into state newborn screening programs.

  • Many rare diseases begin in childhood and are caused by genetic variants. Detecting them early can improve disease management and treatment and even prevent or dramatically reduce symptoms in some cases. Current newborn screening (NBS) programs are limited in which genetic conditions they test for, primarily using biochemical assays, and there is variability among states in which conditions are included.

    As technologies like gene therapies, gene editing, and drug therapy advance, newborn sequencing will allow states to rapidly add new conditions, keeping pace with treatments so more children who could benefit are identified early.

  • BEACONS will look for genetic conditions that begin in infancy and can be treated or managed effectively when found early, focusing on conditions not already part of standard newborn screening.

    For example, some metabolic conditions treatable with vitamins or medications may be included. Conditions that only appear in adulthood, such as inherited forms of cancer that develop later in life, will not be included.

  • There is no cost to families participating in the study.

    BEACONS is funded through the National Institutes of Health (NIH) Common Fund Venture Program, which is a component of the Common Fund for short-term research initiatives with the potential for significant, outsized impact, and that are responsive to the shared priorities of NIH Institutes, Centers, and the Office of the Director. There is no cost to families participating in the study.

  • A number of state public health newborn screening programs expressed interest in participating in BEACONS.

    The study team and NIH are working together to select an initial group of up to 10 states with different backgrounds and experiences in newborn screening.

    The parents of babies who have newborn screening in these states may have the opportunity to participate.

    Information about the study will be shared through hospital systems, prenatal clinics, and a study website.

  • No, participation in this study is completely voluntary and requires parental informed consent for a baby to participate in the screening.

    Families whose babies undergo the routine state newborn screening in participating states may be given the option to participate in BEACONS, which provides screening for additional conditions.

  • For families participating in BEACONS, after routine state newborn screening is completed on the baby's bloodspot, the remaining sample may be used for BEACONS.

    GeneDx, a certified clinical laboratory, will perform sequencing and return results to the state newborn screening follow-up team, families, and their baby’s care team.

    All data are protected under state and federal laws and the family’s consent choices.

  • The project has planned various ways to include the feedback of community members to assure it is being created in a way that is trusted and valuable to families, communities and clinicians.

    There will be a community advisory board (CAB) made up of parents of children with rare diseases, advocates, community leaders, healthcare providers, geneticists, genetic counselors, newborn screening professionals, bioethicists, and data privacy experts, all of whom will play a key role in decision-making for all aspects of the project.

    In addition interviews with key stakeholders will be conducted and incorporated into the study design. In addition, there will be a Scientific Advisory Board that will provide guidance on the project. Community outreach will be collected in various other ways such as through a public health community of practice, including online forums and discussion boards, and national webinars.

  • A gene list will be developed together with the BEACONS research team, the CAB, public health labs, and the NIH. All genetic disorders tested for will be actionable in early childhood.

    This includes: 1) conditions that have symptoms that are expected to begin early in childhood if untreated, and 2) those that  have existing management or treatment options that are effective if started early (within the first year).

    An initial gene list will be carefully selected after receiving input from many experts including doctors, families, and public health leaders and the final gene selection will be voted on by the study’s Community Advisory Board.

  • Clinicians and public health laboratory staff will be supported by the large team working on this project. 

    • Recruitment and consent will be handled by the BEACONS team 

    • Clinical ACTion sheets, similar to the current newborn screening ACT sheets, which provide important information about the disorders and follow-up, will be provided to NBS follow-up staff and clinicians for the genes on the panel 

    • A Genome Resource Center staffed by BEACONS geneticists and genetic counselors will be available for consultation with the public health lab and clinical teams to guide them through the project.

  • 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 all 7 states participating in BEACONS will be enrolling by September 2026.

  • BEACONS is both. The genomic sequencing is performed in a certified clinical laboratory, and results can be used by the baby’s family and healthcare providers in clinical care.

    At the same time, BEACONS is a research project studying how best to integrate genomic screening into state newborn screening programs. Participation is voluntary and does not affect routine newborn screening.