Frequently Asked Questions.

General Overview

  • BRIDGES-NBS 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.

    BRIDGES-NBS is an opt-in research study that runs separately and in parallel to routine state newborn screening, which remains unchanged.

  • No.

    Routine NBS will continue unchanged. BRIDGES-NBS 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 BRIDGES-NBS 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

  • 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 BRIDGES-NBS condition list.

  • 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 BRIDGES-NBS.

Recruitment and Enrollment

  • Recruitment will be conducted both in-person and virtually. Each participating newborn screening program will work with the BRIDGES-NBS team to select two birthing hospitals to serve as primary recruitment sites based on delivery volume, demographics served, and willingness to collaborate with BRIDGES-NBS. 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. BRIDGES-NBS 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.

  • Families who receive an actionable result will receive follow-up through the same system already used for babies who have an actionable result on standard newborn screening. The result is shared through the state or territories’ newborn screening program, which connects the family to the medical specialists who care for babies with that condition. Families may also be connected to counseling or other support services where appropriate. Enrolled babies’ ongoing medical care is delivered by the baby's own healthcare providers. 

Education, Communication, and Support

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

  • BRIDGES-NBS 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, BRIDGES-NBS 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.

  • BRIDGES-NBS genomic sequencing is performed by GeneDx, a genetic testing laboratory with over 25 years of experience. GeneDx follows strict national quality and safety standards for clinical laboratories (CLIA-certified, CAP-accredited). They have analyzed genetic information for more than 750,000 patients and have worked on other newborn screening research studies using whole genome sequencing.

    GeneDx will share BRIDGES-NBS genomic screening reports with the baby’s participating state or territorial newborn screening program, which may share them with the baby’s healthcare providers to become part of the baby’s medical record.

Future Implications

  • No.

    Participation in BRIDGES-NBS 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.

  • Families who join BRIDGES-NBS do so to learn about their own babies’ health risks, as well as help us study whether genomic sequencing can be responsibly included in public health newborn screening programs. Some families may be open to participation in additional studies to help advance related research in the future. Any request from an outside researcher to use BRIDGES-NBS study data, or to reach out to BRIDGES-NBS families, goes through a rigorous review by our Steering Committee to make sure it's consistent with what families agreed to and meets our privacy and ethical standards. Researchers with questions can reach us at info@bridgesnbs.org.

  • Families can request a copy of their child’s genomic sequence data for their own records/use. This request must be made during the 5 years that GeneDx keeps it on file. After that, the file is permanently deleted.

  • If an enrolled baby develops medical concerns within the first 5 years of life, their provider may reach out to GeneDx and request additional testing be performed on the baby's genomic sample. This would be billed to insurance as an additional clinical test.

Data sharing and Privacy Protections

  • A newborn screening blood spot card is the card used to collect a baby's blood sample shortly after birth, through a small heel prick that's part of routine newborn screening. After routine newborn screening is complete, part of a baby's leftover newborn screening blood spot card (called "punches") will be used for BRIDGES-NBS testing, but only after a parent or guardian has given permission through the consent process. These punches are sent to GeneDx, the laboratory that performs BRIDGES-NBS testing. GeneDx will extract DNA from the blood spot, do genomic sequencing, and look for changes in the genes on the BRIDGES-NBS list.

  • DNA samples, genomic data, and clinical reports created through BRIDGES-NBS are stored securely by GeneDx for up to five years after the study ends. After that period, any leftover DNA and all of the genomic data held by GeneDx will be destroyed.

    Access to this information is limited to those directly involved in the study and the baby's care, which includes the BRIDGES-NBS research team and the baby's state or territorial newborn screening program, which may share results with the baby's healthcare providers.

  • As part of standard genetic testing, GeneDx may share information about certain genetic changes, called variants, that are identified through the BRIDGES-NBS study with ClinVar. ClinVar is a secure, publicly available database maintained by the National Institutes of Health (NIH). Only variants classified as pathogenic or likely pathogenic, meaning they are known or suspected to cause disease, may be shared. No other genomic information is included, and personal information, such as a baby's name, is removed before submission. This means the information shared with ClinVar cannot be used to identify a baby.

    Parents have the option to agree (“opt-in”) to sharing their baby's de-identified genomic data with qualified researchers for future research. See question below for more information on optional additional data sharing. If parents choose not to opt-in, no additional research data sharing beyond the ClinVar submission described above will occur.

  • If parents opt-in to additional genomic data sharing, de-identified genomic sequence data will be shared with approved researchers through a secure research database called dbGaP, managed by the National Institutes of Health (NIH). 

    De-identified means that information that could identify the baby, such as their name or date of birth, is removed before the data is shared. 

    Requests from researchers to use genomic data in dbGaP are reviewed to ensure that the proposed research is consistent with the consent, data-use limitations, privacy protections, and applicable laws and policies. Researchers approved to use dbGaP data must agree not to try to identify or contact participants, not to share the data with unapproved users, and to use the data only for approved research consistent with the consent and data-use limitations. The data will be managed by the NIH remain within dbGaP according to their policies. 

    In addition, outside researchers can directly ask the BRIDGES-NBS team to use data from families who agreed to additional genomic data sharing. These requests are carefully reviewed by the BRIDGES-NBS Steering Committee on a case-by-case basis, and are only approved if they have a strong likelihood of benefiting the health of future individuals, and also meet ethical and data-sharing requirements.

  • Babies’ and parents’ personal information is only shared with approved members of the study team who need the information to conduct the study. The study follows HIPAA requirements, which are federal privacy laws that are in place to help protect personal health information, including genetic information. This study also has a “Certificate of Confidentiality” from the National Institutes of Health. This provides additional protections by limiting when identifiable research information can be shared, even in response to a court order, unless a parent gives permission or sharing is required by law. 

    For families who have agreed to share genomic data beyond this study, personal identifiers, such as a baby's name or date of birth, are removed before the data are shared. 

  • Yes. Parents or legal guardians may withdraw their child from the study at any time by contacting the study team, as detailed on the consent form. Withdrawal means that the child’s participation in the research will end. After withdrawal, the study team will not collect any new study information or share the child’s data for additional research. However, information that has already been collected, used in clinical care, or shared as described above cannot be retrieved or removed.

  • No. Genomic data and biospecimens collected through BRIDGES-NBS will not be sold. Additionally, GeneDx is contractually prohibited from using data and biospecimens that they hold to develop new commercial products or tests.

    If parents opt-in to additional genomic data sharing, de-identified genomic data may be shared with outside researchers for research purposes, which could include researchers at academic institutions or at for-profit companies. 

    DNA samples, genomic data, and clinical reports generated through BRIDGES-NBS are stored securely by GeneDx for up to five years after the study ends. After that period, any leftover DNA and all of the genomic data held by GeneDx will be destroyed.

  • The study takes extensive measures to protect against re-identification. For example, by removing identifying details before data is de-identified for dbGaP or made anonymous for ClinVar. However, because genomic data are unique, no system can guarantee zero risk of re-identification. For this reason, dbGaP data is shared only through a secure system, and researchers must apply and agree to strict data-use requirements before they can use it.

  • Yes. Families may receive a copy of their child's clinical genetic testing report through their healthcare provider or public health newborn screening program. Families may also request access to their child's clinical report and/or genomic raw data file by contacting GeneDx, which will keep it on file for 5 years after the study ends.

  • Some families will be invited to participate in optional surveys to learn more about their experience participating in BRIDGES-NBS.

    De-identified survey response data (with names and other personal identifiers removed) will be deposited into a database called the Inter-university Consortium for Political and Social Research (ICPSR). ICPSR uses controlled restricted-use access procedures for researchers interested in the data, which require approved applications, data use agreements, and adherence to confidentiality and data security requirements. Survey data will otherwise not be shared without additional parental consent.

  • Some parents will be invited to participate in optional interviews. Interview data will be analyzed and results will be reported as part of our study results. This may include quotes from parents, but no information that could identify the parent or the baby will be included. Audio recordings and transcripts from interviews will not be shared outside the study team.

Information about GINA and HIPAA

  • The Genetic Information Nondiscrimination Act (GINA) of 2008 is a federal law that protects individuals from genetic discrimination in health insurance and employment. This means that in most cases health insurers and employers cannot use any genetic testing results to deny health insurance coverage, increase the cost (premiums), alter the coverage (what is included in the plan) or use this to make employment decisions (if you are hired/fired or get promoted). You can learn more about genetic discrimination protections at the National Human Genome Research Institute (NHGRI) website here: https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination

  • Health Insurance Portability and Accountability Act (HIPAA) is a law that has been in place since 1996 to protect personal health information. The Omnibus rule of 2013 enhanced HIPAA regulations to include genetic information. This change prohibited health insurance plans from using or disclosing genetic information for underwriting purposes (if they will cover/how much they will charge). This also added health insurance protections for groups historically not included in GINA including: Federal employees, members of the military, veterans, and those covered by the Indian Health Service.

  • GINA protects people from genetic discrimination in health insurance. It does not apply to any other type of insurance, including life insurance, long-term care insurance, disability insurance, or other insurance products. As a result, if a person applies for any insurance other than health insurance, the insurer may ask whether they have had genetic testing. Depending on the type of policy and state law, genetic test results could affect eligibility, coverage, or cost.

    Some states have additional laws that provide greater protection against the use of genetic information for life, long-term care, or disability insurance than GINA alone. To learn about the laws in each state, visit the University of Iowa's website here.

    GINA protects information related to genetic results. However, it does not protect information about medical problems a person already has (“a pre-existing condition”). Under current law, the Affordable Care Act (ACA) prohibits health insurers from denying coverage, charging more, or excluding treatment based on a pre-existing condition, but the ACA does not extend these protections to life, long-term care, or disability insurance.

  • No. GINA’s employment protections do not apply to every employer. For example, they do not apply to:

    • Businesses with fewer than 15 employees

    • The U.S. military 

    • Indian tribes

    • Certain tax-exempt private clubs and other organizations excluded under federal law

    Because these employers are not covered by GINA's employment provisions, they are not required to follow its rules regarding the use of genetic information in employment decisions.

    For the families with a parent in the U.S. Military: Sometimes, when a baby is found to have a genetic variant, their parents may be offered genetic testing to determine whether they also have the same genetic variant. This testing may help the healthcare team better understand the baby's result and can also provide important health information for the parent. For example, it may identify a condition that could affect the parent's ability to safely perform certain duties in their military role, such as a heart condition that increases the risk of sudden loss of consciousness. In rare cases, the parent's genetic test result could affect their military duty status and may be considered when making decisions about the service member's role or duties.

  • No. Under GINA and HIPAA protections, health insurers cannot use genetic test results to deny coverage, determine eligibility, or increase premiums based solely on genetic information. This applies to results from BRIDGES-NBS as well. The Affordable Care Act also protects families if a baby has symptoms related to a pre-existing condition.

  • Yes. GINA does not apply to life insurance, disability insurance, or long-term care insurance. Insurers in those areas may ask about genetic testing and may consider genetic information when making coverage decisions.

  • In most cases, no. GINA prohibits covered employers from requesting, requiring, purchasing, or using genetic information about employees or job applicants, with only a few narrow exceptions. This means most employers cannot see or use a baby's BRIDGES-NBS results, now or in the future, to make hiring, firing, promotion, or other employment decisions.

    Of note, GINA’s employment protections do not apply to every employer, as described above.

  • Health insurers may have access to information needed for payment and healthcare operations, but federal protections prohibit them from using genetic information for health insurance underwriting decisions.