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.

General Overview

  • BEACONS is an NIH-funded feasibility study evaluating whether and how whole genome sequencing (WGS) can be integrated into existing U.S. newborn screening (NBS) systems. It is designed to inform public health readiness, not replace current NBS activities.

  • This is a research study conducted under IRB oversight. Participation is voluntary and separate from mandated NBS. However, the genomic sequencing will be performed at GeneDx, a certified clinical laboratory, and results can be used to guide clinical care.

  • No. Routine NBS will continue unchanged. BEACONS operates in parallel, focusing on workflow feasibility, consent models, return-of-results, family and provider engagement, assessing impact, and ethical approaches. We expect there will be some overlap of the gene list with traditional newborn screening conditions which will allow for additional information for labs.

  • Feasibility refers to understanding what works and what does not work when integrating genomic sequencing into public health systems. This includes logistics, consent models, return of results, data governance, and provider readiness.

  • The NIH and BEACONS team would like to partner with public health laboratories (PHLs) who are also interested in exploring the feasibility of integrating WGS into newborn screening (NBS). Participation in BEACONS offers PHLs the opportunity to assess how genomic sequencing could complement current NBS methods and potentially expand the number of treatable conditions identified early in life.

    Through BEACONS, participating PHLs will gain valuable insights into the scientific, programmatic, and human dimensions of feasibility—ranging from gene selection, sequencing performance, and confirmatory testing to workflow integration, scalability, parental consent, uptake, and communication across stakeholders—that can guide future implementation of WGS in NBS systems and strengthen overall public health capacity.

  • Yes. PHLs will be active collaborators in workflow design, consent logistics, data flow, and results communication. Their engagement is essential to ensuring the study aligns with public health systems and builds trust.

Governance and Oversight

  • Data ownership remains with the participating state and territorial programs and their partners. Consistent with how routine NBS data sharing works, families will also be able to request their data. GeneDx serves as a sequencing partner, not a data owner.

    Data-sharing and access will follow NIH and state governance requirements. Engagement of GeneDx is not an endorsement of their products.

  • The list is being developed by a multidisciplinary team including medical geneticists, genetic counselors, medical specialty experts, public health laboratories (PHLs), advisors from the Community Advisory Board (CAB), and NIH. Input from published evidence, existing algorithms, and PHL feedback will inform final selections.

  • The CAB will guide ethical, cultural, and public engagement considerations and ensure representative input into the gene list, protocol, and consent process. State and territorial newborn screening programs will have opportunities to contribute or provide feedback through CAB-linked mechanisms. 

    Though the exact details are not finalized yet, there will be a role to engage participating states in CAB activities.

  • There will be opportunities for participating state and territorial newborn screening programs to provide input on various aspects of the study design, including enrollment, consent, disclosure of results, etc.

    There will also be a role for participating PHLs to provide ongoing feedback on feasibility, challenges, and opportunities relevant to the implementation of WGS into NBS. Assessing the impact of the integration of WGS into NBS on PHLs is a priority of BEACONS.

Gene List Development

  • The gene list will be developed through a multidisciplinary process that considers clinical actionability and relevance to early childhood health and development, including conditions that are actionable within the first year of life. The multidisciplinary team including geneticists, genetic counselors, medical specialty experts, PHLs, CAB advisors and the NIH. The list will be reviewed and approved by the central IRB.

    It will be consistent across all participating states and refined at the midpoint of the study. We invite the public to comment on the gene list and suggest additional conditions that are medically actionable in the first year of life.

  • Yes, there will likely be overlap with RUSP conditions to allow comparative analysis and contextualization with existing NBS. Inclusion criteria prioritize actionability within the first year of life.

  • The initial plan is to follow gene list selection criteria strictly, though feedback from PHLs on analytic challenges is encouraged. The list may evolve as implementation proceeds.

  • Once GeneDx receives the samples in the lab, genomic results are expected to take a few weeks to return (with an ideal max turn-around time of 28 days, and an average of 21 days for screen positive results, less for most negatives).

Recruitment and Enrollment

  • Recruitment will be conducted both in-person and virtually. Each participating state and territory will work with the BEACONS team to select two birthing hospitals to serve as primary recruitment sites based on delivery volume, demographics served, and willingness to collaborate with the NBS system. Virtual recruitment will occur through prenatal practices (with postnatal consent confirmation) and general invitations to all newborns in participating states and territories.

  • All newborns will be eligible for enrollment, with voluntary parental consent. Participation will not affect standard NBS procedures.

  • Yes. Understanding reasons for declining participation is critical for feasibility and access assessments.

  • There will be no charge for the newborn genomic sequencing portion of the study. Once a clinical grade report is generated and reported back, follow-up costs will occur as typical with usual clinical care (e.g., health insurance coverage). 

  • Families will not receive compensation for participation. Follow-up testing, if clinically indicated, is typically covered through existing insurance mechanisms.

Consent and Return of Results

  • A single, central IRB-approved consent will be used nationally, with flexibility for each state and territory to add required local or legal language. The goal is to make consent brief, transparent, and accessible, balancing comprehension and regulatory requirements.

  • We will work with each state and territory public health program to determine its preferred process (to providers, families, or both) and follow this as closely as possible while remaining consistent with IRB-approved protocols. BEACONS will provide clinical action sheets and other resources such as template letters and communication materials.

  • We will be working closely with states to determine the most ideal workflow for clinical results reporting following existing newborn screening resulting procedures as closely as possible.

  • Our study team will support the state NBS program’s follow-up team in ensuring that results are reported and that follow-up recommendations are provided. Follow-up care and coordination is outside the study’s scope. States may link families to existing specialty networks or clinical providers. Our study’s Genome Resource Center will be a resource to support clinical providers to determine care referral pathways if needed. 

Education, Communication, and Support

  • BEACONS will support the state's existing follow-up teams to notify clinicians and families. The BEACONS Genetics Resource Center (GRC) will support clinicians as needed in understanding and communicating results. The BEACONS team will provide plain-language resources, including clinical action sheets and outreach templates.

  • BEACONS will share educational materials, including talking points, and FAQs and webinars for clinicians. Webinars and office-hour sessions will be scheduled for hospital and PHL staff.

  • Plain-language materials, multiple language versions, and culturally sensitive outreach approaches will be developed with CAB input to facilitate comprehension across different communities.

Operational and Ethical Considerations

  • Current state workflows will be used with no additional blood spots collected on a routine basis for participation in this study. We will require eight 3.2 mm punches from the residual dried blood spots for transport to GeneDx. If additional sample material is required, BEACONS will coordinate with each PHL to determine the best approach.

  • No. The study’s initial approach prioritizes specificity over sensitivity to minimize unnecessary clinical follow up and anxiety for families. The GRC will be available for clinicians who have questions . If a participant fails traditional NBS or develops clinical symptoms, the baby’s clinician may wish to order phenotype informed clinical re-analysis through GeneDx. The GRC will be available to help clinicians discuss and navigate this process. 

  • While long-term follow-up is not currently funded, data will be collected in ways that enable future outcome and economic studies to further assess program sustainability and impact to babies, their families, and the healthcare system.

Future Implications

  • No. Participation in BEACONS does not limit or preclude states and territories from developing or piloting in-house sequencing capabilities. APHL will continue supporting technology transfer and capacity building beyond this project. We will work with state PHLs to avoid overlap that might cause confusion for families whenever possible.

  • Findings will inform recommendations on the feasibility of integrating genomic sequencing into NBS, including readiness assessments, workflow templates, and best practices for consent and results management.