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. There is overlap between conditions in BEACONS and conditions in routine NBS.

  • 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.

Governance and Oversight

  • Community Advisory Board to finalize a comprehensive DNA and data policy that reflects best practices in public health genomics. The policy will adhere to strict privacy rules that protect and secure each baby’s information, including compliance with NIH policies, HIPAA, state laws, and clinical laboratory standards.

    This study also has a Certificate of Confidentiality from NIH, which provides additional protections for participants’ samples and information. Families will be given clear information and choices about data sharing during the consenting process. Once finalized, the full policy will be distributed to participating newborn screening programs and incorporated into the study protocol and consent forms.

  • The list was developed by a multidisciplinary team including medical geneticists, genetic counselors, medical specialty experts, newborn screening programs, advisors from the Community Advisory Board (CAB), and NIH. Input from published evidence, existing algorithms, and newborn screening programs feedback also informed the BEACONS condition list. Please see Conditions Screened page for further information.

  • The Community Advisory Board (CAB) will guide ethical, cultural, and public engagement considerations and ensure representative input into the condition list, protocol, and consent process. Newborn screening programs will have opportunities to contribute or provide feedback through CAB-linked mechanisms.

  • There will be opportunities for participating 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 newborn screening programs to provide ongoing feedback on feasibility, challenges, and opportunities relevant to the implementation of Whole Genome Sequencing (WGS) into newborn screening (NBS). Assessing the impact of the integration of WGS into NBS on newborn screening programs is a priority of BEACONS.

Recruitment and Enrollment

  • Recruitment will be conducted both in-person and virtually. Each participating newborn screening program 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 BEACONS. Virtual recruitment will occur through prenatal practices (with postnatal consent confirmation) and via open invitation to all newborns in participating states and territories.

  • All newborns (<1 month old) in participating states and territories will be eligible for enrollment, with voluntary parental consent. Participation will not affect routine newborn screening (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 expect that the turnaround time from consent to reporting of results to newborn screening programs will be 2-3 months after dried blood spot (DBS) collection. This turnaround time accounts for routine newborn screening completion, DBS linkage to the participant, DBS shipment, DNA extraction, sequencing, analysis, and generating the report.

  • 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 newborn screening 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 and territories will connect 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 Genome 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 Community Advisory Board 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. Once routine newborn screening is complete, BEACONS will take an additional eight 3.2 mm punches from the original newborn screening card for sequencing.

  • No.

    The study’s initial approach prioritizes specificity over sensitivity to minimize unnecessary clinical follow up and anxiety for families. The Genome Resource Center (GRC) will be available for clinicians who have questions. If there is concern for a genetic condition based on traditional newborn screening results or 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. Association of Public Health Laboratories (APHL) will continue supporting technology transfer and capacity building beyond this project. We will work with state newborn screening programs 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.