Newborn Screening in the United States: A Vision for Sustaining and Advancing Excellence (2025)
Chapter: 4 Supporting and Sustaining High-Performing NBS Programs
4
Supporting and Sustaining High-Performing NBS Programs
“We need to figure out ways to maintain the benefits of really one of the most successful public health programs ever while also meeting the challenges of an evolving system. How do we maintain those benefits for families and for future generations?” – Bioethics researcher
Central to public health newborn screening (NBS) are the 56 programs established by states and territories to deliver on the aim of improving health outcomes by screening at birth for certain serious, urgent, and treatable conditions. This chapter focuses on the essential functions these programs fulfill and articulates a vision for supporting and sustaining excellence through performance management systems and shared resources. This chapter ends by discussing considerations for program sustainability including family and provider education, storage and reuse of dried blood spots, long-term follow-up after screening, and workforce development.
NBS PROGRAMS AT THE CORE OF THE PUBLIC HEALTH NBS EFFORT
The mission of public health newborn screening is to reduce morbidity and mortality for affected infants (see Chapter 3), and NBS programs are responsible for detecting and connecting those infants with clinical care. Each of the 56 state and territorial NBS programs operates according to its own processes and requirements for undertaking the routine
screening of blood collected from babies shortly after birth, drawing on national guidance while following state-level policies, mandates, and choices around specific conditions screened, technologies used, and the design and implementation of program elements.1 See Chapters 1 and 2 for a fuller description of public health newborn screening in the United States and how it operates.
While respecting the needs and opportunities for each state and territory to implement its NBS program to meet the needs of its population and align with its circumstances and priorities, all 56 programs need to perform certain essential functions. These include ensuring that all babies born in the state have the opportunity to receive accurate and timely screening; that screening results are communicated to enable babies at risk for identified conditions to receive suitable confirmatory testing, care, and other services; that parents and providers in the state receive accurate information and education about newborn screening; and that the program operates with appropriate quality assurance and performance management.
As NBS programs work to achieve these essential functions, they intersect with and depend on many other partners in the NBS system to achieve the mission of reducing morbidity and mortality for affected infants. For example, ensuring that blood spots are collected in a manner meeting quality and timeliness goals depends on all birth providers and facilities to collect samples, complete paper and/or electronic sample documentation, and return blood spots to the state-designated laboratory. Ensuring that parents understand public health newborn screening and their options regarding participation relies on having effective educational materials for all of a state or territory’s communities as well as needing care providers, counselors, and families to engage in these conversations. Although NBS programs do not have direct authority over every one of their critical NBS partners, the programs need to understand whether essential functions are being met, recognize challenges or issues that arise, and work with public and private partners, policy makers, and others to develop solutions.
SCREENING AND CASE MANAGEMENT
Screening babies born in their respective jurisdictions in a timely manner and connecting at-risk infants with clinical care are essential priorities for NBS programs. This entails collecting newborn dried blood
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1 Shortly after birth, babies generally receive several forms of screening, including blood spot collection as well as hearing and pulse oximetry testing. This report focuses only on blood spot screening.
spots, accurately testing these samples, and following up on the results. As Chapter 2 described, NBS programs differ in screening assays and methodology used for a given screened disease. Programs also vary in operational details, including their associated fees and fee structures, hours of operation, and laboratory systems. Some NBS programs test their jurisdiction’s newborn blood spot samples in state-run public health laboratories, some rely on laboratories housed within universities, some contract with private-sector testing laboratories, and some establish partnerships with other state NBS programs to undertake some or all of their blood spot testing. Programs also vary in terms of how they receive guidance, with many states and territories instituting advisory committees; committees may be voluntary or mandated in statute and contain different balances of expertise.2
This federated approach to newborn screening in the United States has both strengths and limitations. NBS programs can implement innovative practices from which peer programs may draw lessons. For example, Iowa’s NBS program served as an early example of meeting timeliness goals through innovative practices such as tracking individual hospital performance, implementing a courier service, and keeping the laboratory open every day of the year (Gabler et al., 2013). When the potential application of tandem mass spectrometry first challenged programs to consider expansion, the Massachusetts Department of Public Health (DPH) developed an optional pilot program of 20 disorders to address this challenge (Atkinson et al., 2001); Massachusetts DPH still employs this model to pilot test conditions considered for inclusion on its state panel.3 Community involvement is foundational to guiding the activities of Hawaii’s NBS program. As such, their NBS advisory committee conducts surveys, focus groups, and interviews to ensure that decisions about newborn screening are community driven and serve as a model for how to incorporate community engagement into decision making (Mann, 2015).
Different NBS programs can also demonstrate areas of excellence that may serve as resources to other programs. Wisconsin’s NBS laboratory has implemented DNA sequencing as a second-tier screening tool for conditions such as cystic fibrosis (Rock et al., 2023). Rather than independently perform this screening, some programs (e.g., North Carolina) choose to partner with Wisconsin, enabling them to send their samples for specialized second-tier testing as appropriate (Zimmerman, 2016). Tennessee’s
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2 See https://www.newsteps.org/resources/data-visualizations/newborn-screening-advisory-committees (accessed September 26, 2024) for up-to-date information on whether programs currently have an advisory committee, if the advisory committee is mandatory or voluntary, meeting frequency, and other details.
3 See https://nensp.umassmed.edu/sites/nensp.umassmed.edu/files/English.pdf (accessed December 19, 2024).
NBS program serves babies from bordering states by managing follow-up for those screened in Tennessee, sharing results with home state programs, and closing cases if care transfers back to the home state. If the child continues care in Tennessee or their care is transferred to Tennessee, the NBS program ensures follow-up until diagnosis or treatment and maintains communication with other state programs through email, phone, and shared portals.4 State and territorial NBS programs also establish regional partnerships to ensure continued, timely screening for all babies, should operational disruptions occur (e.g., among the NBS programs in Florida, South Carolina, and Tennessee) (Dorley et al., 2024). Other examples of strengths and partnerships abound.
On the other hand, NBS program variability can lead to differences in burdens placed on birth providers or families, including disparities in the effectiveness of screening for a given condition among the full range of a state or territory’s population. Box 4-1 describes an example of the implications of this variability in the context of cystic fibrosis newborn screening.
The case management necessary to track and analyze blood spot samples and accurately follow up from screening to communication of results and/or confirmatory testing (referred to as short-term follow-up) is a core responsibility of NBS programs. This process entails a handoff of a baby’s screening information from the public health system to the clinical care system. NBS programs vary in length of follow-up time and involvement past confirmatory testing. An essential aim of NBS programs, given the urgent and serious nature of the conditions for which these programs screen, is avoiding the loss or delay of samples, avoiding gaps in communication about results, and avoiding the loss of at-risk babies and families to confirmatory testing and care.
To help safeguard the health of infants, national timeliness goals call for communication of at-risk screening results for time-critical conditions within 5 days of birth, and for all NBS tests to be completed within 7 days (HRSA, 2017). State programs have taken a variety of steps to support timeliness, such as extending NBS laboratory operating hours and giving birth providers free return shipping labels for blood spot samples (Sontag et al., 2020), but ongoing needs and challenges in meeting screening time benchmarks represent another illustration of the implications of program-to-program operational variability (see Box 4-2).
Opportunities to support and enhance program excellence include additional guidance, support, and partnerships aimed at fostering more standardized follow-up processes for screening results that are out of
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4 Personal communication from Amanda Ingram, Tennessee Department of Health, December 19, 2024.
BOX 4-1
State and Territorial-Level Differences in Screening for Cystic Fibrosis Variants and Their Effects on Perpetuating Health Disparities
Understanding how screening tests perform for all babies and identifying solutions to mitigate differences in screening effectiveness are important to achieve the mission of public health newborn screening. Differences in screening practices for cystic fibrosis (CF) across newborn screening (NBS) programs provide an illustrative example of how screening performance differences can translate to disparities in health outcomes for certain populations.
CF is an inherited genetic disorder of the cystic fibrosis transmembrane conductance regulator (CFTR) protein that causes mucous in the body to become thick and viscous, resulting in severe damage to the lungs and digestive system. It is a pervasive misconception that CF only affects individuals who are Caucasian; individuals of any racial or ethnic background can be diagnosed with CF (Rubin, 2021). Though there is no cure, early detection and intervention is essential for treating CF, and all 50 states, Puerto Rico, Guam, and the District of Columbia perform screening for CF as a part of their NBS program (NewSTEPs, n.d.). During first-tier biochemical screening, dried blood spots are tested for levels of immunoreactive trypsinogen (IRT), a protein made by the pancreas that is elevated in those with CF (North Carolina Department of Health and Human Services, n.d.). If elevated IRT levels are detected, second-tier molecular screening is performed to detect variants in the CFTR gene that cause CF; if a CF variant is detected, a sweat chloride test is performed to formally diagnose CF (Mt. Sinai, n.d.; Nemours Children’s Health, 2015).
There are many different genetic variants of the CFTR gene that cause CF, some more common than others. State and territorial NBS programs vary widely in how many of these genetic variants are tested. Some programs test for only one variant whereas others test for hundreds (Rehani et al., 2023). States that only test for one or a few variants tend to test for the most common ones, which are most prevalent among people with northern European ancestry. Testing for fewer variants runs the risk of missing less-common variants, resulting in false negatives and delayed treatment for CF. Rarer mutations are more likely to be present in babies of non-European ancestry. Thus, in testing for fewer variants, populations from other ancestral backgrounds are at a higher risk of receiving false-negative results for CF and delays in essential intervention (McGarry et al., 2023).
The variability in testing for CFTR gene variants across states has a negative effect on CF patient outcomes. States with greater racial and ethnic diversity have lower overall detection rates for CF (McGarry et al., 2023). Overall, approximately 11 percent of people with CF have a delayed diagnosis, with Black, Hispanic, and mixed-race people being overrepresented (McGarry et al., 2023). These delayed diagnoses result in delayed crucial early intervention for CF among minoritized groups and perpetuate already existing health disparities.a
Strategies to document and analyze screening performance and national or regional approaches to share resources and expertise can support the ability of state and territorial NBS programs to provide a high-quality service for all members of their population.
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a Race and ethnicity can be conflated with ancestry. Guidance indicates that racial and/or ethnic descriptors can be misleading and harmful when used to describe population genetic differences (NASEM, 2023). However, it is unlikely that the authors would have had access to ancestral descriptors for this study.
BOX 4-2
Timeliness in Public Health Newborn Screening of Dried Blood Spots
Effective collection and analysis of data can inform NBS programs and other partners to proactively address emerging challenges in the NBS system. Ongoing challenges with timeliness related to public health newborn screening provide an illustrative example.
In late 2013, the Milwaukee Journal Sentinel conducted an investigation that uncovered problems with the timeliness of public health newborn screening across the country. The investigative reporting identified hospital procedures, transportation issues, and laboratory processing times as factors that contributed to this problem, emphasizing that delays could contribute to the risk of death or lifelong health problems for a child (Fauber, 2013; Gabler et al., 2013; Johnson, 2013). This reporting contributed to national attention that ultimately prompted the Newborn Screening Saves Lives Reauthorization Act of 2014 (P.L. 113-240) to specify improved timeliness as an explicit goal; empowered the federal Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to create timeliness goals; and included a provision for the Government Accountability Office (GAO) to audit the timeliness of state-run programs.a
Long before timeliness received national media attention, partners within the NBS system were aware and concerned. The American College of Medical Genetics and Genomics (ACMG) report on newborn screening that informed the creation of the Recommended Uniform Screening Panel identified variation of timeliness across states as an issue and made recommendations for the return of results for time-critical conditions and improvements for executing those goals, including overnight courier services. Issues around “unacceptable delay[s]” caused by weekend closures, courier issues, and hospitals batching their samples were also mentioned at ACHDNC meetings as early as 2008 (ACHDNC, 2008; ACMG Newborn Screening Expert Group, 2006).
In response to the concerns and resulting language in the 2014 Act, ACHDNC developed timeliness goals for communicating NBS results, collecting specimens, and transporting those specimens to the laboratory, established in 2015 (HRSA, 2017). A 2016 GAO report, using data collected from 38 states, found that nearly all participating programs failed to meet the recommended timeliness goals (GAO, 2016). More recent data collected from 25 state-run programs indicate improvement in timeliness metrics, especially for programs open 7 days per week; however, timeliness goals are not being universally met (Sontag et al., 2020). The reasons for ongoing program challenges in meeting timeliness goals are likely complex.
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a At the September 2013 ACHDNC meeting, just before the Milwaukee Journal Sentinel’s articles were published, a parent shared the story of her son, Noah, who died of undiagnosed medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Noah’s newborn screening results were communicated the day after his death. Following this public comment, the ACHDNC discussed whether timeliness was in its purview, and ultimately decided to ask its Laboratory Subcommittee to investigate this issue (ACHDNC, 2013). Whether more action would have been taken without the Sentinel’s reporting and subsequent Congressional request cannot be said.
range and need confirmation and diagnosis, thus building on best practices among high-performing state programs and encouraging adoption across NBS programs to minimize babies and families lost to follow-up.
NBS PROGRAM DATA COLLECTION AND PERFORMANCE MANAGEMENT
“We currently cannot assess whether [the proposed benefits of screening] were realized or not because we do not have the structures and processes to assess performance” – NBS public health professional
Achieving and maintaining excellence in core performance requires each NBS program to implement performance management systems. Collecting and analyzing performance data is essential to drive meaningful improvements in the provision of newborn screening as a public health service. Frameworks supporting quality improvement, such as the one proposed by Donabedian (1966), may help inform this process through their emphasis on incorporating measures for structure, process, and outcomes around the laboratory, technological, follow-up, and other capabilities needed by NBS programs, as well as measuring what successful high performance entails (Donabedian, 1966). The value of establishing a system that can learn has been articulated by the National Academy of Medicine and others; a key attribute of such systems is their ability to integrate information from multiple sources to support continuous improvement to practice.5
NBS data collection and analysis fulfills several purposes. It allows state and territorial programs to monitor local operations and performance and identify emerging issues and areas for improvement. Programs establish quality control and quality assurance efforts to monitor adherence to defined criteria across their core processes, such as around sample screening times, assay performance measures, and follow-up.
State and national data can be used in multiple ways, including improving existing testing performance (e.g., refining assay cutoff values and false-positive and false-negative targets based on their relationship to outcomes data), identifying disease outcomes or efficacy of treatments, and assessing outcomes and potential disparities across populations. Through comparison with peer NBS programs, data collection, benchmarking, and performance management can also encourage excellence and provide an opportunity for collaborative learning. Because conditions screened by NBS programs are individually rare with each affecting only
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5 See, for example, National Academy of Medicine learning health series and core principles at https://nam.edu/programs/value-science-driven-health-care/lhs-core-principles/ (accessed December 30, 2024).
a small number of babies and families in a state or territory, combining data across jurisdictional boundaries on shorter- and longer-term health outcomes is important for understanding the effectiveness of screening and interventions (Minear et al., 2022; Pizzamiglio et al., 2022). The needs and challenges associated with rare disease were also motivating factors in the Food and Drug Administration’s (FDA’s) recent establishment of the Rare Disease Innovation Hub to enhance collaboration and regulatory science to facilitate the development of disease therapies (FDA, 2024). Further discussion of long-term follow-up is found below and in Chapter 6, which describes longitudinal research.
NBS programs design and operate their own performance management systems and may implement their own data-sharing arrangements with in-state and/or out-of-state partners. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs), a program through the Association of Public Health Laboratories (APHL) developed with a grant from the Health Resources and Services Administration (HRSA), represents the current primary mechanism for collecting and sharing data across NBS programs.6 Participating in the NewSTEPs data repository is voluntary and not incentivized. Programs submitting data can access their own information and receive aggregated data from other participating programs. For many metrics, only 19 programs submitted data in 2022, and as few as 8 programs submitted data on certain quality indicators (NewSTEPs, 2023).
Implementing more strategic and systematic data collection among NBS programs can serve as a valuable opportunity to enhance decision making but would require collection efforts to be structured. Programs would need to commit to collecting a subset of common data elements and establishing certain common processes, while preserving necessary state and territorial authorities, variation, and flexibility. The level and depth of data sharing would likely vary across NBS programs, but some level of minimum data-sharing requirements must be met.
One possible starting point is a subset of measures tied directly to performance excellence in the essential NBS program functions described above. The following three questions are potential areas for more systematic NBS program and cross-program data analysis efforts:
- Which infants are missed by public health newborn screening? Births can occur in a variety of settings through hospitals, community birth centers, and at home, and not all states and territories are currently able to connect NBS records to vital records that record births.7 Connecting NBS records to vital records would enable
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6 See https://www.newsteps.org/ (accessed December 30, 2024).
7 See https://mchb.tvisdata.hrsa.gov/DataAccessLinkage/ByDataSource (accessed December 18, 2024).
- NBS program directors or other public health decision makers to cross-check whether every recorded birth has a matching NBS screening record, identify missed babies, support further analysis to understand reasons behind missed screening, and provide a basis for developing targeted educational, financial, or policy options to address underlying causes.
- Do screening assays perform differently among infants from different ancestral backgrounds? As illustrated in Box 4-1, the ability of screening assays to identify a condition can differ for babies having different ancestral backgrounds. Understanding performance differences and identifying solutions to mitigate these issues is important for sustaining NBS programs that are high quality across all populations and for achieving the central aim of public health newborn screening to reduce babies’ morbidity and mortality.
- Which infants identified through public health newborn screening as being at risk are not connected with clinical care? Infants, especially those from underserved backgrounds, can experience delays in confirmatory testing and be lost to follow-up care (Kemper et al., 2010; McColley et al., 2023; Schieve et al., 2022). Understanding whether there was a handoff between public health and clinical care ensures that programs deliver on their promise of connecting infants with early treatment and intervention and provides opportunities for programs to learn where there are gaps in the achievement of this mission. Not all state and territorial NBS programs are currently able to transmit or receive electronic messages.8 Updating information management systems and implementing electronic messaging would enable more rapid and effective communication and can permit more timely connection to clinical care (Abhyankar et al., 2016; GAO, 2016).
Selected examples of data that could be collected by NBS programs are shown in Table 4-1. Accountability for achieving performance goals and metrics falls to both NBS programs and to other actors in the NBS landscape; for each illustrative goal, the table identifies examples of data sources and responsible parties. Given differing state and territorial NBS policies and requirements, the director of each NBS program may need to work with other public health and clinical leaders and policy makers to implement needed authorities and processes in each state or territorial context.
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8 See https://www.newsteps.org/resources/data-visualizations/newborn-screening-electronic-messaging (accessed January 30, 2025) for up-to-date information on electronic messaging for each state or territory’s NBS program.
| Goal | Performance Metrics | Data Sources | Accountable Parties |
|---|---|---|---|
| All infants should receive newborn screening. Information should identify any babies missed. |
Infants born and infants screened; demographic details on any who are not screened and documentation on why they were not screened | Vital records, state and territorial NBS program records (may require manual data entry from handwritten blood spot cards), hospital or birth center records | State and territorial NBS programs and public health departments (connect and analyze birth and NBS screening records); hospitals/birth centers (data collection/provision) |
| All screening results should be communicated to the infant’s clinical provider, and ultimately to their family/caregiver. | Evidence of NBS outreach provided to families and to providers; documentation that screening results were received | State and territorial NBS program records documenting communication of results; clinical EHR records | State and territorial NBS programs |
| All infants identified through screening should receive confirmatory testing and connection to care. | Documentation of confirmatory testing; documentation of visits with primary, specialty, and/or genetic counseling care | State and territorial NBS program records; clinical EHR records | State and territorial NBS programs to establish an appropriate connection; clinical care system (hospital or other provider) to establish clear handoff |
NOTE: EHR = electronic health record; NBS = newborn screening.
ENSURING NBS PROGRAM EXCELLENCE IN A PERFORMANCE FRAMEWORK
High-performing state and territorial NBS programs advance the public health goals of newborn screening, foster effective identification and diagnosis of screened conditions across all populations, and sustain trust in the program’s mission and operations. However, newborn screening and public health professionals also report concerns that they will fall short of achieving their goals. During the committee’s information-gathering efforts, NBS laboratory and follow-up professionals reflected on the substantial resources, expertise, and time required to establish laboratory operations, informatics, clinical care relationships, and project management to add each new condition to a state’s program, all in resource-constrained environments (Comeau, 2024; Mann, 2024;
Simonetti, 2024; Susanna Haas Lyons Engagement Consulting, 2024). NBS programs rely on a variety of financial and nonfinancial support to achieve and maintain excellence in their daily operations for current conditions, to address new conditions, and to enhance needed efforts and partnerships around longer-term follow-up.
Multiple mechanisms support state and territorial NBS programs in meeting performance goals; however, resources are unevenly allocated, with more support for laboratory functions and fewer mechanisms providing guidance and assistance with short- or longer-term follow-up after screening. Available federal resources are often ad hoc or grant based, requiring NBS program staff to identify challenges, locate prospective resources, draw on personal networks and contacts, and prepare competitive grant applications. Grant-based funding can end as budgets and priorities shift at the federal level. This approach places a burden on resource-constrained NBS programs and can perpetuate and exacerbate existing disparities across programs.
Table 4-2 conveys the general nature and scale of federal agency support to assist state-level NBS programs with their major functions. Additional funding toward research, education, disease treatment, and other dimensions that intersect with newborn screening is also provided by agencies such as the National Institutes of Health, disease support and advocacy organizations, philanthropic funders, and industry and are not included here. See Chapter 6 for additional discussion of support for NBS and rare disease research.
These HRSA and Centers for Disease Control and Prevention (CDC) investments address important dimensions and represent roughly $30–$40 million per year to support newborn screening. A relatively larger number of programs and supports are associated with the laboratory screening functions of state-level NBS programs, including trainings through APHL,9 quality assurance through CDC,10 and nonregulatory site visits through CDC and APHL,11 whereas less federal support is directed toward short-term and longer-term NBS follow-up. Support from HRSA Propel and Co-Propel grants assist some NBS programs to engage in or enhance longer-term follow-up, and others in the NBS system have also made initial investments in this space (HRSA, 2024b,c; Kellar-Guenther et al., 2024). Current support mechanisms are less likely to provide direct technical assistance and practical guidance for states and territories in
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9 See https://www.aphl.org/programs/newborn_screening/training/Pages/default.aspx (accessed December 30, 2024).
10 See https://www.cdc.gov/laboratory-quality-assurance/php/newborn-screening/index.html (accessed December 30, 2024).
11 See https://www.aphl.org/programs/newborn_screening/pages/molecularassessment-program.aspx (accessed December 30, 2024).
TABLE 4-2 Support from HRSA and CDC for State and Territorial Public Health NBS Programs
| Program/Initiative | FY 2021 | FY 2022 | FY 2023 | FY 2024 |
|---|---|---|---|---|
| HRSA | ||||
| National Center for Newborn Screening System Excellence (NBS Excel) | $1,500,000 | $1,500,000 | $2,650,000 | $2,300,000 |
| Regional Genetic Networks Program | $4,261,786 | $4,285,116 | ||
| Long-Term Follow-Up for Severe Combined Immunodeficiency and Other NBS Conditions Program | $2,773,019 | $3,619,319 | ||
| Quality Improvement in NBS Program | $3,835,000 | $3,300,000 | ||
| NBS Family Education Program | $400,000 | $400,000 | ||
| Innovations in NBS Interoperability | $1,271,627 | $1,258,809 | ||
| Clearinghouse of NBS Information | $421,854 | $420,830 | $498,117 | $497,266 |
| State NBS System Priorities Program (NBS Propel) | $9,476,531 | $9,956,080 | ||
| Cooperative NBS System Priorities Program (NBS Co-Propel) | $3,529,813 | |||
| Total HRSA Funding | $14,463,286 | $14,784,074 | $12,624,648 | $16,283,159 |
| CDC | ||||
| Laboratory Quality and Surveillance | $18,000,000 | $19,000,000 | Not available | Not available |
| National Contingency Plan for Newborn Screening | $30,000 | Not available | Not available | |
| Total CDC Funding | $18,000,000 | $19,030,000 | Not available | Not available |
NOTES: This list may not be comprehensive. Grey squares indicate the program no longer exists (e.g., Regional Genetics Networks program) or had not yet started yet (e.g., NBS Propel). “Not available” indicates the data were not publicly available as of December 2024. NBS Excel was previously known as the Newborn Screening Data Repository and Technical Assistance Program and funds the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs). CDC = Centers for Disease Control and Prevention; HRSA = Health Resources and Services Administration; NBS = newborn screening.
SOURCES: HRSA 2024a; Email transmitted by Alisha Keehn, HRSA, December 11, 2024, providing FY 2023 and FY 2024 grant funding amounts.
operating and strengthening their follow-up programs. Funding opportunities evolve with agency budgets and priorities; for example, the period of performance for the NBS Propel/Co-Propel awards will end in 2028.
Current support mechanisms rely heavily on grants provided to individual states (i.e., NBS Propel and Co-Propel), as well as information clearinghouses and community listservs (e.g., NewSTEPs Community Discussion) aimed at fostering greater coordination, but often without incentives or requirements for programs to participate. NBS programs may need not only coordinators, but also “do-ers” to directly assist programs with solving their challenges. With an onus largely on state and territorial NBS programs to see where they are struggling and reach out, program staff also rely on their informal networks of colleagues and contacts when they have questions or need assistance. A divergence in capacities and performance between different state programs persists and appears to be widening.
Supporting High Performance of All NBS Programs: What Is Needed
Ensuring that all 56 state- and territorial-run NBS programs achieve and sustain excellence is important to the value proposition of newborn screening. Those involved throughout the landscape of newborn screening are approaching this challenge with good intentions and are striving to deliver a public health service to all babies. In the face of program-to-program variability and geographic disparities, however, strengthening the network of programs so all 56 have what they need to achieve excellence in their essential functions will require aligning both financial and nonfinancial supports and incentives in a more strategic way. This approach will likely require a mix of federal, state, and nonprofit or private support, with buy-in from multiple stakeholders and decision makers.
A more holistic approach to investing in the excellence of NBS programs would include
- a level of core support in nationally identified priority areas to enable all state and territorial programs to achieve a foundational, baseline level of excellence;
- incentives for NBS programs to participate in performance measurement, analysis, and improvement activities;
- a continued role for competitive grant opportunities that enable different NBS programs to address their unique needs and gaps and to capitalize on their specific strengths and opportunities;
- a coherent way for NBS programs to work together on common goals and priorities (participating in a networked approach would
- also enable NBS programs to share and implement learning and best practices); and
- a mechanism for greater shared, strategic data and trends analysis, going beyond current data repositories.
Mechanisms for enhancing data collection, analysis, and learning, as well as for providing targeted technical assistance and core financial support, could adapt or draw on existing models. One option to implement this system could be to augment NewSTEPs, operated under APHL, by incentivizing NBS program participation, identifying and collecting agreed metrics across all NBS programs, and ensuring the data are used to provide responsive funding and technical assistance. NewSTEPs has operated a quality improvement program, supported through an award from HRSA, in which state public health programs apply for support for quality improvement efforts they have identified. A total of 14 proposals received support in 2019 and 7 proposals in 2020.12 It appears these efforts are no longer funded (see Quality Improvement in NBS Program in Table 4-2). The NewSTEPs information repository includes technical assistance resources, and it may provide consultative services at the request of state NBS programs.
CDC’s Newborn Screening and Molecular Biology Branch has also been developing and pilot testing the Enhancing Data-driven Disease Detection in Newborns (ED3N) program as a data collection and analysis platform.13 ED3N is currently focused on the development of modules for biochemical and molecular screening data from state and territorial NBS programs, including analysis tools to help improve screening assay detection algorithms and the interpretation of disease variants. The usefulness and feasibility of developing modules that would share and analyze clinical data from diagnosis and longer-term follow-up care is also being considered, although these are not yet deployed (Cuthbert and Gaviglio, 2023). ED3N is anticipated to be up and running in 2028 (Cuthbert and Gaviglio, 2023).
These existing foundations could be built on and expanded to ensure a performance excellence approach and infrastructure that encompasses all programs in a structured and strategic way. Two other potential examples of models for enhancing systematic data collection and performance excellence—an example of an expanded federal cooperative assistance program and a public–private network—are provided in Box 4-3; other
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12 See https://www.aphlblog.org/aphl-newborn-screening-systems-quality-improvement-projects-award-recipients-announced/ for 2019 awardees and https://www.globenewswire.com/news-release/2020/02/25/1990269/0/en/APHL-Announces-Newborn-Screening-Systems-Quality-Improvement-Projects-Second-Cohort-Award-Recipients.html for 2020 awardees (both accessed December 30, 2024).
13 See https://www.cdc.gov/newborn-screening/php/about/ed3n-project.html (accessed January 16, 2025).
BOX 4-3
Two Examples of Models to Support Excellence in Public Health Newborn Screening
Robust approaches to data collection, analysis, and learning, as well as technical and financial assistance, can support excellence across state and territorial NBS programs. Two examples of potential models or approaches that could be drawn on or adapted to fulfill these aims include (1) a federal cooperative grant program supporting activities helping to sustain and build all states’ capacity to address infectious diseases (such the Centers for Disease Control and Prevention [CDC] Epidemiology and Lab Capacity program); and (2) an arrangement in which a private or nonprofit organization supports and coordinates quality improvement efforts (such as the California Perinatal and Maternal Quality Care Collaborative).
CDC Epidemiology and Lab Capacity (ELC) Program
Established in 1995, CDC’s ELC program has provided funding to health departments across the United States to detect, prevent, and respond to infectious disease outbreaks. The program funds an ELC cooperative agreement, which awards funding to 65 U.S. state, local, territory, and affiliate health departments.
Flexible funding allows recipients to meet their unique needs instead of relying on a one-size-fits-all approach. Projects targeting specific diseases, such as rabies surveillance or vaccine-preventable diseases, allow different areas or populations to focus on their priority health topics. The ELC program also distributes supplemental funding on behalf of CDC for emergency response efforts, such as those for H1N1, Zika, Ebola, and COVID-19.
SOURCES: https://www.cdc.gov/epidemiology-laboratory-capacity/media/pdfs/2023-2024-ELC-Fact-Sheet.pdf; https://www.cdc.gov/epidemiology-laboratory-capacity/php/our-work/index.html (both accessed January 16, 2025).
California Perinatal and Maternal Quality Care Collaborative
The California Perinatal and Maternal Quality Care Collaborative (CPQCC/CMQCC), housed at Stanford Medicine, unites nearly all of California’s birth hospitals and neonatal intensive care units in a multistakeholder, public–private network focused on enhancing health care quality and equity. It achieves its goals through key activities that include the following:
- Collection and reporting of standardized, real-time data, generating clinical reports and dashboards that allow hospitals to track performance over time and benchmark against peers;
- Collaborative quality improvement initiatives driven by member feedback to align with clinical or health policy priorities;
- Provision of in-person and online educational resources to promote potentially better practices and professional development, giving practitioners access to tools that enable them to deliver high-quality care, support optimal patient outcomes, and help combat burnout;
- Contributions to research advancing knowledge in perinatal and maternal health care;
- Partnerships between CPQCC/CMQCC and state agencies, families, community organizations, and professional associations to increase effectiveness; and
- Member-driven, bottom-up philosophy harnessing professionalism coupled with incentives to encourage participation.
SOURCES: www.cpqcc.org; www.cmqcc.org (both accessed January 16, 2025).
approaches could also be taken. Under whichever implementation mechanism is selected, creating a universal system with the active engagement of all state and territorial NBS programs is likely to require some level of incentives to NBS programs, beyond current ad hoc grants.
State and territorial NBS programs may be able to share scarce or specialized resources in a more comprehensive and systematic way to support their collective high performance. Each of the 56 individual NBS programs does not need to duplicate all capacities and types of expertise, but all programs need a way to access these resources when needed. Two examples follow
- Certain technical capacities: Each NBS program does not necessarily need to develop and house the full suite of instrumentation and expertise required to undertake DNA sequencing and analysis, which is currently used for certain second- and third-tier testing when initial screening results warrant. Similarly, each program does not need to duplicate the specialized technical expertise involved in developing and improving laboratory assays for screened conditions, as long as all programs have a way to make use of such expertise when they need to implement new screening or access technical assistance when performance issues arise.
- Certain specialized expertise areas: Genetic counselors work with families and care providers to help them understand NBS results. Genetic counselors are specially trained to deliver complex health information to families, but there is a shortage of counselors to provide this service after newborn screening. Available providers are concentrated in metropolitan areas and some states and territories have few to no practitioners (Jenkins et al., 2021; NSGC, 2020; Vockley, 2021). Genetic counselors may be able to practice across state lines, but geography is not the only impediment to access as availability of state-recognized licensure and billing practices also pose challenges (Boothe et al., 2020;
- Roberts et al., 2017; Tschirgi et al., 2021). Telehealth, distributed systems of clinical expertise, or other mechanisms may be necessary to engage families and connect them to evidence-based care.
Supporting all 56 NBS programs to achieve high performance in their essential functions will require flexibility. Each program needs different things and will have different expertise to contribute to its peers. A useful first step would be identifying the resources and knowledge available among the network of NBS programs, including which state programs have advanced capabilities in which areas. This effort would assist peer programs in knowing where to look or who to ask for help in particular areas when they have gaps and needs and would help maximize the value of expertise that is unevenly distributed across the United States.
Another option to address variability in state capacities for scarce or advanced resources and expertise could be to develop centers for expertise that provide a layer of support to state-run programs within their network. Such centers could expand on the existing CDC-funded Center of Excellence to Enhance Disease Detection in Newborns (award period 2024–2028),14 which is focused on positioning NBS programs to adapt to advanced technologies and meet increasing demands. Centers for expertise could provide mentorship or direct services to enable state programs to perform existing screening at the highest quality and more quickly add new conditions. Such centers could also house or facilitate connections with genetic counseling services (with the appropriate licensing to work across state lines) to assist states with results interpretation and family communication. Although establishing or designating centers for specialized expertise could help foster greater harmonization of capacities across states and territories, there is a risk that they could deepen geographic disparities by directing resources toward strong programs.
PROGRAM SUSTAINABILITY
“The biggest issue facing newborn screening programs is sustainability.” – NBS public health professional
Supporting and sustaining NBS program excellence relies not only on program resources and performance management, but also on the state, community, and legal contexts in which these programs operate. Maintaining relationships with perinatal care providers, ensuring that these professionals have accurate resources and information about public health
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14 See https://www.cdc.gov/newborn-screening/php/about/state-newborn-screening-laboratories.html (accessed December 30, 2024).
newborn screening, and addressing current workforce challenges and future needs are all required for effective program implementation. Similarly, the continued existence of NBS programs to provide a public health service for all babies and families relies on public agreement and trust in their mission. Family education and engagement are important elements in sustaining NBS programs, as are state and territorial program awareness of and attention to the many views and evolving legal landscape around storage and use of NBS dried blood spot samples after screening. Further, the collection and analysis of long-term follow-up data are necessary to achieve NBS programs’ aim of improving affected babies’ health, and this is an area that bridges public health, clinical care, and research. These key areas for program success are briefly explored in the sections below.
The national context in which NBS programs operate also contributes to their operations and sustainability. Federal support to programs is discussed above. Important federal guidance is also provided to NBS programs through the Recommended Uniform Screening Panel (RUSP) and activities of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC); see Chapter 7 for a discussion of needs and opportunities for federal coordination, input, and priority-setting and to optimize RUSP decision making.
Professional Information and Training
NBS programs must provide clear and accurate information to the many providers and health facilities that speak with prospective parents about screening, collect and return samples, and receive and communicate results. This includes ensuring provider awareness of their state’s requirements and obligations and ensuring providers have the necessary materials and information to complete the required sample documentation. This responsibility can also entail outreach more generally to ensure that providers and facilities are prepared to share accurate information with families about what will happen during newborn screening and why, and to communicate with families when screening results are returned. The need for NBS programs to educate perinatal health care providers about newborn screening was recognized and called for by ACHDNC over a decade ago (Therrell et al., 2011). Voluntary guidance from the Clinical and Laboratory Standards Institute (CLSI) also discusses the need for and scope of communication and education around newborn screening (CLSI, 2023).
Professional education and training are important to the success of newborn screening, and providers do not always feel sufficiently informed about the rare diseases covered by newborn screening nor do they feel equipped to interpret and communicate results effectively (Evans et al.,
2019; Kemper et al., 2006; Raia et al., 2024). Providers may also use outdated terminology, such as referring to public health newborn screening as a “PKU test,” which can confuse families.15 Comments shared during information-gathering and listening sessions reinforced and echoed persistent calls for the need for additional NBS education; for practical tools to support providers across the prenatal, perinatal, and postnatal periods; and for greater consistency in this area (Clayton, 2024; Hassan, 2024; Susanna Haas Lyons Engagement Consulting, 2024; Tanksley, 2024; Wallis, 2024). Public health programs, in partnerships with professional associations and programs that train care providers, can assume responsibilities, provide guidance, and facilitate professional awareness and preparation by disseminating effective materials and resources.
Engaging with Families About Newborn Screening
“Clear communication, openness, and transparency would help build trust.” – Parent
More proactive, multifaceted, and robust engagement with families around newborn screening is needed and was raised as a central theme during the committee’s information-gathering efforts. Public health NBS programs assume various roles in collaboration and partnership with others. Information about newborn screening is needed not only during blood spot collection at birth but also during pregnancy, and earlier receipt of this information from a heath care provider has been associated with greater parent satisfaction (Araia et al., 2012; Raia et al., 2024).
Current strategies for family awareness and engagement about newborn screening have both strengths and shortcomings. Best practices for engaging families have been elucidated and vetted, multiple research-based educational materials are already available, and refusal rates for newborn screening are generally very low (Evans et al., 2019; Raia et al., 2024).16 However, the current NBS system is not effectively engaging all families. Many parents report being unaware of newborn screening until a nurse comes to take a blood sample, whereas others do not recall that their infant ever received newborn screening (Bellamy, 2024; Campbell and Ross, 2004; Clayton, 2024; Hassan, 2024; Hoffman, 2024; Kusyk et al., 2013; Rink, 2024; Susanna Haas Lyons Engagement Consulting, 2024; Tanksley, 2024; Wallis, 2024; Williams, 2024).
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15 See https://www.newsteps.org/about/screening-successes/north-dakota-newborn-screening-more-pku (accessed March 3, 2025).
16 A number of resources are also available through the Baby’s First Test website; see https://www.babysfirsttest.org/ (accessed November 27, 2024).
When families are unaware of screening until late in the process, they may lack an adequate understanding of what screening means, what is being screened for, or the benefits of screening. Feeling blindsided by this process can undermine trust, lead to confusion or fear, and potentially impede transition to follow-up testing and care for infants identified as at risk through screening. On the other hand, prenatal awareness and engagement has been linked to increased support for the program (Botkin et al., 2016).
Viewing Families as Partners in the Dynamic NBS Landscape
Engaging with families is most effective when done via multiple channels and at multiple time points; this helps to increase retention and understanding and ensure all families encounter information at some point even if there are gaps in their access to care (Tluczek et al., 2009, 2022; WHO, 2017). Multiple actors can and should play roles in this effort. Obstetricians, midwives, maternal care nurses, and family practitioners have a critical opportunity to share information about newborn screening during the prenatal period, a time when pregnant people are already participating in many health screens and are focused on planning for their baby’s birth. While engagement about newborn screening can happen during the course of prenatal care, it may be most effective if it is delivered more than once and if there are systems in place to ensure it is consistently delivered. In particular, parents and providers have identified the third trimester as one important window for such information (ACOG Committee on Genetics, 2019; Davis et al., 2006).
The time around birth is another critical period when clinicians can reinforce awareness and understanding of newborn screening by clearly communicating what is happening when a sample is taken and reminding families about the next steps in the process when the family is discharged home. During this period, it is especially helpful to provide simple, action-oriented information (Davis et al., 2006; Tluczek et al., 2022). After birth, pediatricians, pediatric nurses, family physicians, and advance practice nurses also have key roles. Their primary responsibility is to close the loop on reporting results to families, even when the screening results are in range. Pregnant people and their families support awareness and engagement as well, by actively seeking out information about newborn screening, asking questions, engaging in conversations with care providers, and sharing information within their own networks.
Engagement needs to be a two-way street, working with families as partners within the NBS landscape. Family awareness and engagement around newborn screening ties into interrelated ethical issues and can help support the overall success of NBS programs. In keeping with public health ethical principles, newborns and their families should be treated as partners—not passive recipients—in newborn screening (see Chapter 3).
To build and maintain trust, the NBS system must demonstrate that it is trustworthy, and engagement contributes to this aim.
Public trust in NBS programs cannot be taken for granted, particularly as conversations continue around complex issues such as the use of genome sequencing and blood spot storage and use. A lack of transparency around the NBS process or a lack of awareness of its benefits and parental options can lead to backlash. Several lawsuits have already been filed by parents in multiple jurisdictions over policies concerning residual dried blood spots (Hughes et al., 2022). Finally, family engagement can help the NBS system work better. By knowing how the process should work and when they should expect to receive results, families become another check in the process to ensure results are reported and follow-up occurs.
Goals and Resources
Achievable goals can help guide communication with parents about newborn screening. First, it is important for families to be aware that newborn screening happens. This ideally includes awareness that newborn screening will happen (before birth), that it is happening (heel stick to collect newborn blood spot), and that it has happened (results are reported back to the family). Second, families need to have a basic understanding of what newborn screening entails and their options, including both the initial screening and any subsequent storage and use of the blood spot. They should have opportunities to ask questions and get additional information if they want to learn more. Third, families need to have a basic understanding of why newborn screening is done. This includes awareness of the benefits of detecting urgent and serious health conditions before symptoms develop at a stage when interventions can substantially improve a baby’s lifelong health. This awareness can reinforce the importance of engaging with providers to facilitate follow-up testing and treatment as appropriate.
Education and engagement around newborn screening can take varied forms, and many NBS educational resources exist, developed by family support and advocacy organizations, professional associations, government agencies, and others.17 Pamphlets, posters, and other printed materials can be especially useful for conveying information without adding burdens to a provider’s time with patients because they can be displayed or distributed
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17 Links to multiple resources and materials on newborn screening are available through the HRSA’s Newborn Screening Resources page (https://newbornscreening.hrsa.gov/about-newborn-screening/newborn-screening-resources; accessed November 27, 2024), through Baby’s First Test (https://www.babysfirsttest.org/newborn-screening/resources; accessed November 27, 2024), through Expecting Health (https://expectinghealth.org/programs/newborn-screening-family-education-program; accessed February 4, 2025), and through multiple other sources.
in the waiting room before a prenatal visit or given as a resource for families to review at home. Electronic resources such as videos, images, and websites can be helpful within and outside of health care contexts. They can be well suited for reaching people in the online spaces where they already spend time, such as through social media campaigns or prenatal education classes held online. Finally, conversations with care providers and educators can help to deliver information while giving families a chance to express concerns or ask questions (Bellamy, 2024; Raia et al., 2024).
The existence of best practices and educational resources has not consistently translated into effective family engagement and awareness around newborn screening, however. One important barrier is that responsibilities for communicating with parents and families are diffuse and there is a general lack of clarity about whose responsibility it is to deliver this information to parents, how available materials can be obtained, and when and how they should be communicated (Davis et al., 2006; Evans et al., 2019; Faulkner et al., 2006; Raia et al., 2024). A “no wrong door” approach may be an effective strategy for empowering providers to educate parents about newborn screening. Multiple providers may be involved in perinatal care, and the role of these practitioners may differ across communities. For example, community pharmacists are often the most accessible providers in rural or frontier communities (Berenbrok et al., 2020, 2022; San-Juan-Rodriguez et al., 2018). All providers interfacing with families during the perinatal period can play a key role in educating parents or directing parents to trusted resources about newborn screening.
Language and health literacy can also pose barriers if materials are not well matched with the intended populations. Whatever form engagement takes, information must be delivered in ways that are accessible, digestible, and linguistically and culturally appropriate. Additional investment may be needed to tailor existing materials or develop further materials for communicating effectively with all members of a state or territory’s population, including those from medically underserved communities (Davis et al., 2006; Evans et al., 2019, 2020; Tluczek et al., 2022). Translating into practice these calls for more systematic and effective engagement with parents and families about newborn screening may require efforts among relevant provider communities to issue or update practice guidance. In addition, provision and reimbursement of health-related services is affected by the existence and use of codes through the Healthcare Common Procedure Coding System (HCPCS).18 Such codes include Current Procedural Terminology codes overseen by the American Medical Association and additional HCPCS codes established by the Centers for
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18 See https://www.cms.gov/medicare/coding-billing/healthcare-common-procedure-system (accessed January 2, 2025).
Medicare & Medicaid Services. Further discussions among care providers and public and private health payors may be needed regarding the applicability and reimbursement of NBS education under current coding.
Storage and Reuse of Residual Dried Blood Spots
Understand that the majority of end-users of the newborn screening system are not rare disease patients, but instead patients with negative test results. Given that their children did not have a disease identified, their main concerns and considerations may not be related to diagnosis and care, but instead privacy, consent for the use of samples, and why their child may need to be screened in the first place. – NBS public health professional
Extra or “residual” dried blood spots exist after public health NBS tests are completed (Ram, 2022). What happens to infants’ collected blood spots after screening is another issue important to the sustainability and future effectiveness of NBS programs. All states need to maintain screened dried blood spots for some period of time during which these samples are available for additional testing if initial screening results are out of range, and to enable NBS programs to use deidentified dried blood spots in quality control and assurance efforts. These types of uses are fundamental—generally not controversial—and essential parts of operating a functioning NBS program (Botkin et al., 2013). It is critical to distinguish these core program uses from other types of potential uses such as research or forensics.
Using dried blood spots for health research can offer benefits for future infants, pregnant people, and the public health (Botkin et al., 2013), leading the American College of Medical Genetics and Genomics (ACMG) to describe dried blood spots as a “valuable national resource” (ACMG, 2009, p. 2). This kind of research can include “toxicology, environmental exposure, or vaccine studies” (Preslan and Mathews, 2013, p. 27) or “state-level concerns over infectious agents, environmental exposures, and population genetics” (Botkin et al., 2013, p. 122). In 2013, a study found that 26 states allowed research use of dried blood spots, while 12 prohibited it. Only a few states have specifically prohibited types of research including research related to the military and “cosmetics, abortion, or nonhealth topics” (Preslan and Mathews, 2013, p. 27). In addition, the Texas legislature amended the statutory framework governing newborn screening to prohibit use of dried blood spots for “forensic science”19 following Beleno v. Lakey, described below (Ram, 2022).
Forensic or police use of dried blood spots might include identifying a child postmortem (Botkin et al., 2013), or even for criminal prosecution.
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19 Tex. Health & Safety Code Ann. § 33.018(f)(2).
These broad and important uses led Jeffrey Botkin and colleagues to “encourage states to consider the retention of residual NBS specimens and to make retained specimens available to qualified investigators. . .” within parameters (Botkin et al., 2013, p. 122). This section describes the current landscape of policies concerning dried blood spots, court cases, and areas of specific consideration moving forward.
Policies for Use
Despite these broad and important potential uses of dried blood spots, there are few consistent policies at the federal, state, or laboratory level setting rules or expectations (Lewis et al., 2011). In 2008 Congress passed the Newborn Screening Saves Lives Act (P.L. 110-204) to “promote and improve newborn screening for heritable disorders, develop population research surveillance and epidemiology, and expand research partnerships within the government as well as academic and private institutions” (Drabiak-Syed, 2011, p. 9). Section 1116 of the Act (Hunter Kelly Research Program) states that the “Secretary, in conjunction with the Director of the National Institutes of Health and taking into consideration the recommendations of the Advisory Committee, may continue carrying out, coordinating, and expanding research,” including “for additional newborn conditions, and other genetic, metabolic, hormonal, and or functional conditions that can be detected through newborn screening” (P.L. 110-204, Sec. 1116).
In 2009 the U.S. Secretary of Health and Human Services ACHDNC made recommendations regarding dried blood spot retention and use, including that all states should have a related policy. ACHDNC recommended that such policies should ensure respect for the privacy and confidentiality of families, promote public trust, and emphasize transparency. Such policies should also help support informed public participation (ACHDNC, 2010). The following year ACHDNC also added that the retention and use of dried blood spots for “nonstandard uses such as research may not be adequately addressed in current state laws or policies” (Therell et al., 2011, p. 624). The same year, a workshop convened by the Institute of Medicine (IOM) explored calls for more transparency and accountability in this space (IOM, 2010).
In 2014, amendments to the Public Health Service Act (Newborn Screening Saves Lives Reauthorization Act, P.L. 113-240) required two new elements regarding research use of dried blood spots acquired during public health newborn screening. First, the amendments required that research with dried blood spots be understood to meet the definition of human subjects research, even if the spots were deidentified. Typically, the definition of “human subject” in the Common Rule (45 CFR 46) is limited to interventional research or research with identified data or
specimens. Second, the amendments prohibited an institutional review board (IRB) waiver of informed consent for research with dried blood spots. Typically, an IRB could offer a waiver for research that was low risk where consent was impracticable to obtain (as well as several other metrics) (Rothwell et al., 2019). This Act lapsed in 2019 with the revisions to the Common Rule, and current research with dried blood spots is now governed by the standard metrics (Ram, 2022).
Parental Education and Consent for the Retention and Use of Dried Blood Spots
Disclosure of retention and future research use of dried blood spots is not mandated in most states. Policies vary widely regarding disclosure, types of research use, destruction of retained dried blood spots, or potential return of clinical results (Lewis et al., 2011). That said, a 2019 study of research publications using dried blood spots found that the majority of papers obtained informed consent and/or used deidentified or anonymous samples (Rothwell et al., 2019). However, many parents report a preference for being given a choice whether their child’s dried blood spots be used for things other than the clinical testing, quality assurance, and quality improvement. Thus, while the public health component of NBS is often justified by the state’s interest in protecting the health of newborns, assuming that state interest can be extended to also doing research with the dried blood spots is controversial (Suter, 2022). Nevertheless, when given a choice, 76 percent of parents in a survey reported being very or somewhat willing to consent to research (Tarini et al., 2010). Whether this percentage would differ today as trust in research and public health has evolved is unknown.
Two general approaches to informed consent particularly relevant to the newborn screening context have been described in the literature. In an opt-in approach, parents affirmatively sign a consent form to allow dried blood spots to be used for research. As Botkin et al. have argued, “The major advantage of the opt-in approach is that it requires an interaction with parents to obtain a signature and therefore enhances the possibility that parents would make an informed choice” (Botkin et al., 2013). Parental preferences are also consistent with this approach (Botkin et al., 2012). Opt-in, however, has been criticized as potentially being too burdensome for hospitals to implement given the number of clinical needs in the peripartum time period. The concern is that hospitals would not bother to ask for consent, severely limiting the supply of dried blood spots for research—even from parents that would have otherwise consented (Drabiak-Syed, 2011; SACHRP, 2015).
On the other hand, in an opt-out approach, parents would be informed about the future potential retention and use of their children’s dried blood
spots and their right to not consent to that use. But, unless the parent affirmatively signs an opt-out form, the default will be that the dried blood spot can be used for research. This switch in administrative burden has, in other contexts, demonstrated increased participation rates (Davidai et al., 2012). Botkin et al. therefore argued that opt-out was the better policy choice, assuming:
(1) parents are informed about the retention and use of residual samples in a meaningful way that permits an informed decision, (2) parents understand that they have the option to refuse, and (3) the ability to opt-out entails a process that is not unduly burdensome (Botkin et al., 2013, p. 124).
In 2009, Michigan was the first state to develop a comprehensive opt-in approach for research use of dried blood spots along with providing educational materials and trainings through the Michigan BioTrust for Health (Michigan BioTrust). The majority of adults in Michigan were found to be supportive of research with dried blood spots. In early implementation, hospitals reported that in the vast majority of cases, the consent process required less than 5 minutes (Duquette et al., 2011, 2012). In 2010–2012, almost 60 percent of parents affirmatively opted in to such research (only 16 percent actually declined; the rest were returned blank or not at all). This was a significant reduction in dried blood spots being available for research; however, the Michigan BioTrust saw the program design as a reasonable public health trade-off. Overall, the Michigan BioTrust did not observe a substantial increase in parent refusal for public health newborn screening itself (Langbo et al., 2013). That said, the Michigan BioTrust is involved in an ongoing court case regarding the legality of their approach (see below).
Selected Court Cases Challenging Newborn Screening and Their Implications
There have been several past and ongoing court cases regarding the storage and use of dried blood spots collected through public health newborn screening. Brief summaries of four court cases are provided to give context for considerations on standards for storage, retention, and reuse policies.
Beleno v. Lakey (Texas, 2009)
In Beleno, several parents sued the Texas Department of State Health Services for storing their children’s dried blood spots indefinitely for research purposes without explicit parental consent. Parents argued that this was federally unconstitutional under the Fourth Amendment (prohibiting unreasonable searches and seizures) and the Fourteenth Amendment
(prohibiting the deprivation of liberty without due process).20 Texas requested that the case be dismissed, but the court declined to do so for the majority of claims.21 As the parties were amending their complaints, it was revealed that the Texas Department of State Health Services had also shared approximately 800 dried blood spots to the U.S. Armed Forces Pathology Laboratory for forensic use. The plaintiffs filed an additional lawsuit (Ramshaw, 2010). Texas decided to settle the case and agreed to destroy five million dried blood spots. A more protective state law also took effect around the same time (Lewis et al., 2011).
Bearder v. State (Minnesota, 2011)
In Bearder, several parents sued the state of Minnesota for retaining their children’s dried blood spots indefinitely for research without parental consent. The parents argued that, unlike in Beleno, this was a violation of Minnesota law—a section of the Minnesota Government Data Practices Act that required written informed consent for genetic testing.22 While a lower court held that the Minnesota Genetic Privacy Act did not apply to the case because testing of biological specimens was not genetic information and that the state health commissioner had express authority to conduct health studies with the specimens,23 the Minnesota Supreme Court concluded otherwise. The court held that “biological information includes blood samples”24 and that, while the collection and use of dried blood spots for public health newborn screening was expressly allowed by law, use for research required consent.25 The state was ordered to destroy one million samples (Wadman, 2012).
Kanuszewski v. Michigan (Michigan, 2023)
In Kanuszewski, several parents sued the Michigan Department of Health and Human Services and Neonatal Biorepository for retention of their children’s dried blood spots without informed consent. Like in Beleno, parents argued that this was federally unconstitutional under the Fourth and Fourteenth Amendments.26 The Sixth Circuit Court noted that, while the U.S. Supreme Court had not weighed in on whether parents have
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20 Beleno v. Lakey. 306 F. Supp. 3d 930 (W.D. Tex. 2009).
21 Beleno v. Lakey. 306 F. Supp. 3d 930 (W.D. Tex. 2009).
22 Minn. Stat. §13.386 (2010) on the treatment of genetic information, which has been referred to as the Genetic Privacy Act.
23 Bearder v. State, 788 N.W.2d 144, 149 (2010).
24 Bearder v. State, 806 N.W.2d 766, 773 (2011).
25 Bearder v. State, 806 N.W.2d 766 (2011).
26 Kanuszewski v. Mich. HHS, 927 F. 3d 396 (2019).
a “fundamental right” to direct their child’s medical care, the Supreme Court had found that parents have the right to direct their education and religious upbringing. Therefore, the Sixth Circuit reasoned, the direction of medical care must also be a fundamental right.27 Any limitation on a fundamental right warrants “strict scrutiny,” meaning the government has to demonstrate that the limitation is “narrowly tailored” in response to a “compelling government interest.”28 While acknowledging that public health dried blood spots might meet a strict scrutiny standard because of the state’s parens patriae interest in keeping children alive,29 the court was skeptical about the state’s extension of it to the retention of specimens “after [the state] has finished screening the samples for diseases.”30
On remand from the Sixth Circuit, the lower court held that the state was liable for Fourth Amendment violations as the “seizure” of the blood spots was unreasonable. While the seizure of dried blood spots for public health purposes related to newborn screening might be a compelling interest, it held that indefinite retention of dried blood spots was not narrowly tailored to achieve it.31 The district court also concluded that law enforcement use of dried blood spots would violate the Fourth Amendment.32 The court directed the state to either gather informed consent for each retained blood spot or destroy them within 1 year; Michigan destroyed over three million dried blood spots (White, 2022).33 It has been appealed again to the Sixth Circuit and oral arguments are scheduled for March 2025.
Lovaglio v. Baston (New Jersey, 2023)
In Lovaglio, parents sued the New Jersey Department of Health under federal constitutional arguments,34 like in Beleno and Kanuszewski. New Jersey has a known record of law enforcement using dried blood spots in at least several cases. In 2024, the state of New Jersey released a new directive requiring “genuinely exceptional circumstances” for approval of law enforcement use.35 Whether this new directive is constitutionally satisfactory remains pending before the New Jersey Court (Difilippo, 2023).
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27 Kanuszewski v. Mich. HHS, 927 F. 3d 396, 411 (2019).
28 Kanuszewski v. Mich. HHS, 927 F. 3d 396, 419 (2019).
29 Kanuszewski v. Mich. HHS, 927 F. 3d 396, 420 (2019).
30 Kanuszewski v. Mich. HHS, 927 F. 3d 396.
31 Kanuszewski v. Mich. HHS, 684 F. Supp. 3d 637, 652 (2023).
32 Kanuszewski v. Mich. HHS, 684 F. Supp. 3d 637, 652–53 (2023).
33 Kanuszewski v. Mich. HHS, 684 F. Supp. 3d 637, 660 (2023).
34 Lovaglio v. Baston, No. 3:23-cv-21803-GC_RLS.
35 State of New Jersey Office of the Attorney General, Investigatory Use of Documentary Records and Physical Blood Samples Maintained by the Newborn Screening Program, Attorney General Law Enforcement Directive No. 2024-03 (Trenton, NJ: OAG, 2024), https://www.nj.gov/oag/dcj/agguide/directives/ag-Directive-2024-03_Physical-Blood-Samples.pdf (accessed March 18, 2025).
Policy Areas to Consider for Storage and Reuse of Dried Blood Spots
Many professional organizations and experts have recommended that states should establish consistent policies regarding secondary dried blood spot (DBS) use (Botkin et al., 2012, 2013). Building and maintaining trust is critical to any public health program because so many public health programs rely on the community to voluntarily engage (Ram, 2022). Whereas a lack of explicit consent or more education has sometimes been justified by the importance of the NBS program, as the cases above demonstrate, overstepping the legal bounds of that program not only can undermine trust but can also lead to the destruction of entire research biobanks (including samples for which parents might have consented in the first place) (Lewis et al., 2011). A recent white paper from the National Organization for Rare Disorders (NORD) describes public, policy-maker, and legal attention to this question, and highlights the importance of maintaining trust and transparency while preserving the ability of programs to carry out their essential functions (NORD, 2025). There are several specific areas for consideration in the development of such policies.
Duration of Retention
As discussed in several of the dried blood spot court cases, duration of retention of dried blood spots is a critical component of assessing whether government collection of dried blood spots is appropriate to achieve the public health goals of newborn screening. A 2019 study found that whereas some states only retain dried blood spots for 3–6 months to complete public health screening, three states store them for 10–20 years, eight store them for 21–30 years, and six store them indefinitely (Rothwell et al., 2019). Therefore, while dried blood spots might be valuable to research for decades (Botkin et al., 2013), there is no state-level consensus on how long to retain specimens either for public health or research purposes (Botkin et al., 2012). In 2013, Botkin et al. recommended that states retain dried blood spots for at least 3 months for public health screening purposes and true positive specimens as long as target analytes are stable. They also recommended that dried blood spots should be retained until the legal age of adulthood for the child, but that parents should have the right to have them destroyed prior to that as well (Botkin et al., 2013).
Use of Genomic Sequencing
Retention and use of dried blood spots might also be affected by evolving technologies and the use of genomic sequencing in particular. While the Michigan BioTrust in the Kanuszewski case argued that the retention of blood spots was unlikely to carry a high risk of reidentification, the court
dismissed this claim because, it noted, that an argument that something does not currently happen does not mean it cannot happen in the future. In fact, the National Human Genome Research Institute has concluded publicly that “genome sequencing [in newborn screening] will eventually happen” (Ram, 2022, p. 1266). As Natalie Ram has argued, “The push toward generating broader swaths of genetic sequence data as part of newborn screening may make those subsequent uses much broader—and perhaps more controversial, too” (Ram, 2022, p. 1268).
Access to Dried Blood Spots by the Criminal Justice System
A third important consideration is access and use of dried blood spots by the criminal justice system. Dried blood spots have been used for criminal investigation, including in California and New Jersey, which made arrests on the basis of dried blood spots (Biryukov, 2022; Ram, 2022). Some states, like Iowa,36 have clear protections against law enforcement use of residual dried blood spots,37 but most states do not. Experts including Botkin et al. and Ram have argued strongly against this use of dried blood spots, and courts, such as the one in Michigan, have used law enforcement’s use of dried blood spots as an example of why retention programs can violate the Fourth Amendment (Botkin et al., 2013; Ram, 2022).38 As Ram has argued, “. . . it is nonsensical to imagine that the state can, in the exercise of its parens patriae power, consent to law enforcement searches for ordinary crime-detection purposes (Ram, 2022, p. 1311).” As Sonia Suter has added:
If the state usurps control over intimate personal biological samples and associated medical information by stepping in as “parents of the country” and then uses those involuntarily collected samples for its own surveillance, that is worse than “overweening government power.” It is akin to abuse of power. (Suter, 2022, p. 15)
Connecting Newborn Screening to Health Outcomes: An Ongoing Challenge
“While infants are generally screened universally, the system for follow-up and treatment for screen positive infants mirrors our healthcare system. [Some] infants are lost to follow-up or don’t receive treatment in a timely manner.” – Health care provider
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36 Iowa Admin. Code r. 641-4.3(8)(e)(2022).
37 Although Iowa’s regulatory framework clearly bars law enforcement use of NBS dried blood spots, law enforcement use of data derived from newborn screening may be permitted (Ram, 2022). See Iowa Admin. Code r. 641-4.3(7)(b)(3) (2021).
38 Kanuszewski v. Mich. HHS, 684 F. Supp. 3d 637, 660 (2023).
A key motivation for undertaking at-birth, population-level newborn screening is to support improved health outcomes for babies through early detection and intervention. Longer-term follow-up in the context of newborn screening generally refers to activities after confirmatory testing is completed (Hinton et al., 2014; Kemper et al., 2008). After state NBS programs document the transition of an identified baby and their family to the clinical care system for follow-up and ongoing care, the baby’s subsequent record largely falls outside the capacity of most NBS programs to monitor.
Information on long-term care, services, and health outcomes for the individuals and families diagnosed with a screened condition thus involves medical records located in hospital or clinician electronic health records, public or private health insurance records—whether through private insurance plans or public plans such as Medicaid, and a range of potential disease-specific registries, some operated by agencies such as CDC39 or by disease advocacy organizations and industry, such as the Cystic Fibrosis Foundation Patient Registry,40 or the National PKU Alliance Patient Registry.41 As such, long-term health outcomes data involve multiple personal, state, and federal sources outside the control of state NBS programs. Persistent socioeconomic, geographic, racial, and other disparities associated with the U.S. health care system complicate the ability of all babies identified with a serious condition to receive the care they need, and some babies fall out of the health care system after screening.
Documenting the longer-term effects of newborn screening is important for
- understanding the effectiveness of available treatments on babies’ improved health outcomes,
- developing new or improved interventions to fill gaps,
- maintaining public and decision-maker support for newborn screening,
- analyzing health and economic benefits from investing in at-birth screening, and
- learning and improving the overall NBS system.
Effective long-term data collection and outcomes analysis after newborn screening remains challenging and does not have simple or
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39 For example, the CDC Sickle Cell Data Collection (SCDC) program, which currently includes 16 states (https://www.cdc.gov/sickle-cell/scdc/index.html; accessed December 30, 2024).
40 See https://www.cff.org/medical-professionals/patient-registry (accessed December 30, 2024).
41 See https://www.npkua.org/registry/ (accessed December 30, 2024).
immediate solutions. NBS programs need to be involved in longer-term follow-up efforts after screening, as essential partners with clinical health, information systems, and other collaborators, but such follow-up extends beyond core program functions and is outside the current scope and ability of most state and territorial NBS programs. (See also Chapter 6 for discussion of longitudinal follow-up research).
Workforce Development
“Most lab facilities are underfunded, understaffed, and under-supported.” – NBS public health professional
Sustainability of NBS programs relies on a robust public health workforce. However, public health programs face ongoing workforce challenges related to recruitment and retention. The public health workforce has declined substantially since the 1970s, and between the 2009 Great Recession and the COVID-19 pandemic more than 40,000 state and local public health positions were lost (Leider et al., 2023). Rising workload coupled with insufficient support have resulted in staff burnout, decreased morale, and high turnover across public health and for NBS programs, specifically (Leider et al., 2023; Olney et al. 2023; Susanna Haas Lyons Engagement Consulting, 2024). Labor market competition from the private sector and limited career growth opportunities add to the difficulty of attracting and retaining experienced staff (APHL, 2024; Leider et al., 2023; Susanna Haas Lyons Engagement Consulting, 2024).
There are several possible strategies to sustain and rebuild the NBS public health workforce. Workforce development initiatives, including new approaches to training and education, staff engagement activities, and alternate work schedules have been successful in alleviating some of these challenges (Olney et al., 2023). Loan repayment programs for governmental public health staff, improvements to governmental hiring processes, and expanded internship and mentorship programs are also possible opportunities (Leider et al., 2023; NASEM, 2022). Further discussions on public health workforce development, recruitment, and retention are needed.
CONCLUSIONS
Conclusion 4-1: While respecting the autonomy of each state and territorial public health NBS program to meet the needs of its population, all programs need to be accountable for achieving certain essential functions:
- Provide every infant born in the state or territory with the opportunity to receive screening for a set of serious, urgent, and treatable conditions.
- Provide NBS educational materials to all state/territorial prenatal and birth providers.
- Strive for high-quality, timely screening designed to perform accurately for all members of the population.
- Ensure high quality and timely case management for every infant screened. This includes directly communicating out-of-range results for infants to their providers, and ultimately to the family/caregiver, as well as confirming those infants are connected to further evaluation or care by documenting diagnoses. This also includes reporting in-range results such that every infant’s results are communicated to their provider, and ultimately to the family/caregiver.
- Establish and maintain systems for quality assurance, program excellence, and performance improvement.
Conclusion 4-2: The ability to document, measure, and evaluate core program functions would enable NBS programs to improve on their performance. Many NBS programs track a variety of metrics, but not all programs collect or report the same metrics and metrics are not always connected with achieving core goals. Establishing a performance-based, learning approach at both state and national levels would support the excellence of this important public health program.
Conclusion 4-3: Education about public health newborn screening is haphazard and often nonexistent, leaving many parents unaware that newborn screening has taken place. There are significant gaps in families’ interactions with the NBS system, particularly around knowledge that screening occurs and the benefits of screening, as well as the practices around the storage and reuse of dried blood spots. Risks of inadequate education include parents opting their child out of screening, being blindsided by screening results, or having a child fall through the cracks. Engaging with families about newborn screening is essential for an effective and trustworthy system.
Conclusion 4-4: Providers can feel ill equipped or unable to engage with families about newborn screening due in part to insufficient knowledge. Education on the mission and practices of newborn screening, how to routinely integrate and disseminate resources on newborn screening into care, and the fundamentals of genetics would prepare providers to responsibly communicate with their patients about newborn screening throughout the prenatal to postanal period.
Conclusion 4-5: NBS programs need the authority to retain dried blood spots for at least a limited time for quality assurance and quality improvement activities. These are essential for operating a functional NBS program and maintaining a high-quality public health service.
Conclusion 4-6: Long-term follow-up is important to understand the public health impacts of newborn screening and make improvements across the NBS system but requires clinical health and public health partnerships, health information technology infrastructures, and other capacities that are outside the scope and ability of most state and territorial NBS programs.
Conclusion 4-7: Multiple mechanisms support NBS programs in meeting their goals; however, resources are unevenly allocated and federal programs are often based on competitive grant applications that can burden resource-constrained programs and can perpetuate and exacerbate existing disparities among programs. NBS programs would need responsive financial and nonfinancial supports and incentives to achieve and maintain systemwide excellence and capacity while respecting each program’s autonomy, unique challenges, and broader context.
REFERENCES
Abhyankar, S., R. M. Goodwin, M. Sontag, C. Yusuf, J. Ojodu, and C. J. McDonald. 2016. An update on the use of health information technology in newborn screening. Seminar in Perinatology 39(3):188-193.
ACHDNC (Advisory Committee on Heritable Disorders in Newborns and Children). 2008. Transcript, Monday, January 14. Department of Health and Human Services. https://public3.pagefreezer.com/content/health-resources-and-services-administration/22-08-2022T12:52/https:/www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/meetings/Heritable%20Disorders%202004-2015/2008/Jan%2014,%202008/transcript.pdf (accessed January 15, 2025).
ACHDNC. 2010. Letter from R. R. Howell to K. Sebelius, October 13, 2010. https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/letter-sec-dried-blood.pdf (accessed January 15, 2025).
ACHDNC. 2013. Transcript, Friday, September 20. Department of Health and Human Services. https://us.pagefreezer.com/en-US/wa/browse/d6b93713-1f22-47f2-a0e2-ce7a6df7744a?find-by-timestamp=2022-08-22T12:52:59Z&url=https:%2Fwww.hrsa.gov%2Fsites%2Fdefault%2Ffiles%2Fhrsa%2Fadvisory-committees%2Fheritable-disorders%2Fmeetings%2FHeritable%20Disorders%202004-2015%2F2013%2FSeptember%2011-12,%202013%2Fdaytwotranscript.pdf×tamp=2022-08-22T11:59:24Z (accessed January 15, 2025).
ACMG (American College of Medical Genetics) Newborn Screening Expert Group. 2006. Newborn screening: Toward a uniform screening panel and system. Genetics in Medicine (Suppl 1):1S-252S.
ACMG. 2009. Position statement on importance of residual newborn screening dried blood spots. https://www.acmg.net/PDFLibrary/NBS-Blood-Spot-Retention.pdf (accessed January 15, 2025).
ACOG (American College of Obstetricians and Gynecologists) Committee on Genetics. 2019. Newborn screening and the role of the obstetrician-gynecologist. ACOG Committee Opinion Number 778. Obstetrics and Gynecology 133(5):e357-e361.
APHL (Association of Public Health Laboratories). 2024. 2024 laboratory workforce profile: Survey summary report. https://www.aphl.org/aboutAPHL/publications/Documents/QSA-Workforce-Profile-2024-Survey-Summary.pdf (accessed February 14, 2025).
Araia, M. H., B. J. Wilson, P. Chakraborty, K. Gall, C. Honeywell, J. Milburn, T. Ramsay, and B. K. Potter. 2012. Factors associated with knowledge of and satisfaction with newborn screening education: A survey of mothers. Genetics in Medicine 14(12):963-970.
Atkinson, K., B. Zuckerman, J. M. Sharfstein, D. Levin, R. J. R. Blatt, and H. K. Koh. 2001. A public health response to emerging technology: Expansion of the Massachusetts newborn screening program. Public Health Reports 116(2)122-131.
Bellamy, C. 2024. Webinar on family education for newborn screening, October 7, 2024. Presentation and discussion to the Committee on Newborn Screening: Current Landscape and Future Directions. https://www.nationalacademies.org/event/43820_10-2024_newborn-screening-current-landscape-and-future-directions-webinar-on-family-education-for-newborn-screening (accessed: February 13, 2025).
Berenbrok, L. A., N. Gabriel, and K. C. Coley. 2020. Evaluation of frequency of encounters with primary care physicians vs visits to community pharmacies among Medicare beneficiaries. Journal of the American Medical Association Network Open 3(7):e209132.
Berenbrok, L. A., S. Tang, N. Gabriel, J. Guo, N. Sharareh, N. Patel, S. Dickson, and I. Hernandez. 2022. Access to community pharmacies: A nationwide geographic information systems cross-sectional analysis. Journal of the American Pharmacists Association 62(6):1816-1822.
Biryukov, N. 2022. Newborn screening program used to aid criminal investigation, public defender says. New Jersey Monitor. https://newjerseymonitor.com/2022/07/13/newborn-screening-program-used-to-aid-criminal-investigation-public-defender-says/ (accessed January 29, 2025).
Boothe, E., S. Greenberg, C. L. Delaney, and S. A. Cohen. 2020. Genetic counseling service delivery models: A study of genetic counselors’ interests, needs, and barriers to implementation. Journal of Genetic Counseling 30(1):283-292.
Botkin, J. R., E. Rothwell, R. Anderson, L. Stark, A. Goldenberg, M. Lewis, M. Burbank, and B. Wong. 2012. Public attitudes regarding the use of residual newborn screening specimens for research. Pediatrics 129(2):231-238.
Botkin, J. R., A. J. Goldenberg, E. Rothwell, R. A. Anderson, and M. H. Lewis. 2013. Retention and research use of residual newborn screening blood spots. Pediatrics 131(1):120-127.
Botkin, J. R., E. Rothwell, R. A. Anderson, N. C. Rose, S. M. Dolan, M. Kuppermann, L. A. Stark, A. Goldenberg, and B. Wong. 2016. Prenatal education of parents about newborn screening and residual dried blood spots: A randomized clinical trial. JAMA Pediatrics 170(6):543-549.
Campbell, E. D., and L. F. Ross. 2004. Incorporating newborn screening into prenatal care. American Journal of Obstetrics and Gynecology 190(4):876-877.
Clayton, E. W. 2024. Panel reflections and discussion on public trust, May 16, 2024. Presentation and discussion to the Committee on Newborn Screening: Current Landscape and Future Directions. https://www.nationalacademies.org/event/42550_05-2024_newborn-screening-current-landscape-and-future-directions-meeting-3 (accessed March 4, 2025).
CLSI (Clinical and Laboratory Standards Institute). 2023. Newborn screening follow-up and education. CLSI guideline NBS02. Berwyn, PA: Clinical and Laboratory Standards Institute.
Comeau, A. M. 2024. Panel: State/regional NBS programs–Perspectives on the study task, January 26, 2024. Presentation and discussion to the Committee on Newborn Screening: Current Landscape and Future Directions. https://www.nationalacademies.org/event/41786_01-2024_newborn-screening-current-landscape-and-future-directions-meeting-1b (accessed March 4, 2025).
Cuthbert, C., and A. Gaviglio. 2023. ED3N: Enhancing Data-Driven Disease Detection in Newborns. Presentation to a meeting of the Advisory Committee on Heritable Disorders in Newborns and Children, May 4, 2023. https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/meetings/cdc-enhancing-data-driven-disease-detection.pdf (accessed January 21, 2025).
Davidai, S., T. Gilovich, and L. D. Ross. 2012. The meaning of default options for potential organ donors. Proceedings of the National Academy of Sciences 109(38):15201-15205.
Davis, T. C., S. G. Humiston, C. L. Arnold, J. A. Bocchini, Jr., P. F. Bass, 3rd, E. M. Kennen, A. Bocchini, D. Williams, P. Kyler, and M. Lloyd-Puryear. 2006. Recommendations for effective newborn screening communication: Results of focus groups with parents, providers, and experts. Pediatrics 117(5 Pt 2):S326-S340.
Difilippo, D. 2023. Civil rights group sues New Jersey to stop secret storage, use of baby blood spots. New Jersey Monitor. https://newjerseymonitor.com/2023/11/02/civil-rights-group-sues-new-jersey-to-stop-secret-storage-use-of-baby-blood-spots/ (accessed March 18, 2025).
Donabedian, A. 1966. Evaluating the quality of medical care. Milbank Quarterly 44(3):166-206.
Dorley, M. C., E. Bair, P. Ryland, A. D. Ingram, E. Reeves, K. J. Levinson, O. O. Adair, J. F. Meredith, and S. Crowe. 2024. Continuity of operations in newborn screening: Lessons learned from three incidents. International Journal of Neonatal Screening 10(3):55.
Drabiak-Syed, K. 2011. Legal regulation of banking newborn blood spots for research: How Bearder and Beleno resolved the question of consent. Houston Journal of Health Law and Policy 11:1-46.
Duquette, D., A. P. Rafferty, C. Fussman, J. Gehring, S. Meyer, and J. Bach. 2011. Public support for the use of newborn screening dried blood spots in health research. Public Health Genomics 14(3):143-152.
Duquette, D., C. Langbo, J. Bach, and M. Kleyn. 2012. Michigan BioTrust for Health: Public support for using residual dried blood spot samples for health research. Public Health Genomics 15(3-4):146-155.
Evans, A., K. LeBlanc, N. Bonhomme, S. M. Shone, A. Gaviglio, D. Freedenberg, J. Penn, C. Johnson, B. Vogel, S. M. Dolan, and A. J. Goldenberg. 2019. A newborn screening education best practices framework: Development and adoption. International Journal of Neonatal Screening 5(2):22.
Evans, A., M. Lynch, M. Johnson, and N. Bonhomme. 2020. Assessing the newborn screening education needs of families living in medically underserved areas. Journal of Genetic Counseling 29(4):658-667.
Fauber, J. 2013. More than half of state labs do not process newborn samples on weekends, creating critical delays in the process. Milwaukee Journal Sentinel. https://archive.jsonline.com/watchdog/watchdogreports/Deadly-Delays-Watchdog-Report-More-than-half-of-state-labs-do-not-process-newborn-samples-on-weekends-creating-critical-delays-in-the-process-228832381.html (accessed January 21, 2025).
Faulkner, L. A., L. B. Feuchtbaum, S. Graham, J. P. Bolstad, and G. C. Cunningham. 2006. The newborn screening educational gap: What prenatal care providers do compared with what is expected. American Journal of Obstetrics and Gynecology 194(1):131-137.
FDA (Food and Drug Administration). 2024. FDA takes exciting steps toward establishing the Rare Disease Innovation Hub. FDA Voices, November 1, 2024. https://www.fda.gov/news-events/fda-voices/fda-takes-exciting-steps-toward-establishing-rare-disease-innovation-hub (accessed December 30, 2024).
Gabler E., M. Johnson, and J. Fauber. 2013. Deadly delays. Milwaukee Journal Sentinel, November 16.
GAO (Government Accountability Office). 2016. Newborn screening timeliness: Most states had not met screening goals, but some are developing strategies to address barriers. GAO-17-196. https://www.gao.gov/assets/gao-17-196.pdf (accessed January 15, 2025).
Hassan, S. 2024. Panel reflections and discussion on public trust, May 16, 2024. Presentation and discussion to the Committee on Newborn Screening: Current Landscape and Future Directions. https://www.nationalacademies.org/event/42550_05-2024_newborn-screening-current-landscape-and-future-directions-meeting-3 (accessed March 4, 2025).
Hinton, C. F., C. T. Mai, S. K. Nabukera, L. D. Botto, L. Feuchtbaum, P. A. Romitti, Y. Wang, K. N. Piper, and R. S. Olney. 2014. Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: A four-state pilot project structure and initial findings. Genetics in Medicine 16(6):484-490.
Hoffman, B. 2024. Webinar on family education for newborn screening, October 7, 2024. Presentation and discussion to the Committee on Newborn Screening: Current Landscape and Future Directions. https://www.nationalacademies.org/event/43820_10-2024_newborn-screening-current-landscape-and-future-directions-webinar-on-family-education-for-newborn-screening (accessed: February 13, 2025).
HRSA (Health Resources and Services Administration). 2017. Newborn screening timeliness goals. https://www.hrsa.gov/advisory-committees/heritable-disorders/newborn-screen-ing-timeliness (accessed September 18, 2024).
HRSA. 2024a. Report to Congress: Newborn screening activities fiscal year 2021 and fiscal year 2022. https://www.govinfo.gov/content/pkg/CMR-HE20_9000-00186876/pdf/CMR-HE20_9000-00186876.pdf (accessed January 15, 2025).
HRSA. 2024b. Cooperative newborn screening system priorities (NBS Co-Propel) program. https://mchb.hrsa.gov/programs/cooperative-newborn-screening-system-priorities (accessed September 26, 2024).
HRSA. 2024c. State newborn screening system priorities (NBS Propel) program. https://mchb.hrsa.gov/programs/newborn-screening-propel (accessed March 3, 2024).
Hughes, R., IV, S. Choudhury, and A. Shah. 2022. Newborn screening blood spot retention and reuse: A clash of public health and privacy interests. Health Affairs Forefront. https://www.healthaffairs.org/content/forefront/newborn-screening-blood-spot-retention-and-reuse-clash-public-health-and-privacy (accessed January 21, 2025).
IOM (Institute of Medicine). 2010. Challenges and opportunities in using residual newborn screening samples for translational research: Workshop summary. Washington, DC: The National Academies Press.
Jenkins, B. D., C. G. Fischer, C. A. Polito, D. R. Maiese, A. S. Keehn, M. Lyon, M. J. Edick, M. R. G. Taylor, H. C. Andersson, J. N. Bodurtha, M. G. Blitzer, M. Muenke, and M. S. Watson. 2021. The 2019 US medical genetics workforce: A focus on clinical genetics. Genetics in Medicine 23(8):1458-1464.
Johnson, M. 2013. Testing delay puts newborn’s life at risk. Milwaukee Journal Sentinel. https://archive.jsonline.com/watchdog/watchdogreports/Deadly-Delays-Watchdog-Report-Newborn-screening-testing-delay-puts-newborns-life-at-risk-228832681.html (accessed January 21, 2025).
Kellar-Guenther, Y., L. Barringer, K. Raboin, G. Nichols, K. Y. F. Chou, K. Nguyen, A. R. Burke, S. Fawbush, J. B. Meyer, M. Dorsey, A. Brower, K. Chan, M. Lietsch, J. Taylor, M. Caggana, and M. K. Sontag. 2024. Defining the minimal long-term follow-up data elements for newborn screening. International Journal of Neonatal Screening 10(2):37.
Kemper, A. R., R. L. Uren, K. L. Moseley, and S. J. Clark. 2006. Primary care physicians’ attitudes regarding follow-up care for children with positive newborn screening results. Pediatrics 118(5):1836-1841.
Kemper, A. R., C. A. Boyle, J. Aceves, D. Dougherty, J. Figge, J. L. Fisch, A. R. Hinman, C. L. Greene, C. A. Kus, J. Miller, D. Robertson, B. Therrell, M. Lloyd-Puryear, P. C. van Dyck, and R. R. Howell. 2008. Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Genetics in Medicine 10(4):259-261.
Kemper, A. R., L. Ouyang, and S. D. Grosse. 2010. Discontinuation of thyroid hormone treatment among children in the United States with congenital hypothyroidism: Findings from health insurance claims data. BMC Pediatrics 10(1):9.
Kusyk, D., K. Acharya, K. Garvey, and L. F. Ross. 2013. A pilot study to evaluate awareness of and attitudes about prenatal and neonatal genetic testing in postpartum African American women. Journal of the National Medical Association 105(1):85-91.
Langbo, C., J. Bach, M. Kleyn, and F. P. Downes. 2013. From newborn screening to population health research: Implementation of the Michigan BioTrust for health. Public Health Reports 128(5):377-384.
Leider, J. P., V. A. Yeager, C. Kirkland, H. Krasna, R. Hare Bork, and B. Resnick. 2023. The state of the US public health workforce: Ongoing challenges and future directions. Annual Review of Public Health 44:323-341.
Lewis, M. H., A. Goldenberg, R. Anderson, E. Rothwell, and J. Botkin. 2011. State laws regarding the retention and use of residual newborn screening blood samples. Pediatrics 127(4):703-712.
Mann, S. 2015. Insights in public health: Newborn screening saves babies using public/private partnerships. Hawai’i Journal of Medicine and Public Health 74(12):415-418.
Mann, S. 2024. Panel: State/regional NBS programs–Perspectives on the study task, January 26, 2024. Presentation and discussion to the Committee on Newborn Screening:
Current Landscape and Future Directions. https://www.nationalacademies.org/event/41786_01-2024_newborn-screening-current-landscape-and-future-directions-meeting-1b (accessed March 4, 2025).
McColley, S. A., S. L. Martiniano, C. L. Ren, M. K. Sontag, K. Rychlik, L. Balmert, A. Ebert, R. Wu, and P. M. Farrell. 2023. Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening. Journal of Cystic Fibrosis 22(1):89-97.
McGarry, M. E., C. L. Ren, R. Wu, P. M. Farrell, and S. A. McColley. 2023. Detection of disease-causing CFTR variants in state newborn screening programs. Pediatric Pulmonology 58(2):465-474.
Minear, M. A., M. N. Phillips, A. Kau, and M. A. Parisi. 2022. Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 190(2):138-152.
Mt. Sinai. n.d. Neonatal cystic fibrosis screening test. https://www.mountsinai.org/health-library/tests/neonatal-cystic-fibrosis-screening-test (accessed January 15, 2025).
NASEM (National Academies of Sciences, Engineering, and Medicine). 2022. Improving diversity of the genomics workforce: Proceedings of a workshop—in brief. Washington, DC: The National Academies Press.
NASEM. 2023. Using population descriptors in genetics and genomics research: A new framework for an evolving field. Washington, DC: The National Academies Press.
Nemours Children’s Health. 2015. Cystic fibrosis newborn screening information for pediatricians. https://www.youtube.com/watch?v=2bQ40fKaGMU (accessed January 15, 2025).
NewSTEPs. n.d. Screened conditions report. https://www.newsteps.org/data-center/reports/screened-conditions-report (accessed December 30, 2024).
NewSTEPs. 2023. NewSTEPs 2022 annual report. newsteps.org/sites/default/files/resources/download/NewSTEPS-2022-Annual-Report.pdf (accessed December 30, 2024).
NORD (National Organization for Rare Disorders). 2025. Preserving public trust in the U.S. newborn screening system: Policy principles and recommendations on the retention and secondary use of residual dried blood spots. https://rarediseases.org/wp-content/uploads/2025/02/NRD-2368-Newborn-Screening-Report_FNL.pdf (accessed March 6, 2025).
North Carolina Department of Health and Human Services. n.d. North Carolina newborn screening program. Elevated IRT and 2 CFTR variants fact sheet for parents. https://www.ncdhhs.gov/1elevated-irtand2-cftrvariantsparentspdf/download?attachment?attachment (accessed January 15, 2025).
NSGC (National Society of Genetic Counselors). 2020. Professional status survey 2020: Executive summary. https://www.nsgc.org/Portals/0/Docs/Policy/PSS%20Executive%20Summary%202020%20FINAL%2005-03-20.pdf (accessed January 15, 2025).
Olney, R. S., J. R. Bonham, P. Schielen, D. Slavin, and J. Ojodu. 2023. 2023 APHL/ISNS newborn screening symposium. International Journal of Neonatal Screening 9(4):54.
Pizzamiglio, C., H. J. Vernon, M. G. Hanna, and P. D. S. Pitceathly. 2022. Designing clinical trials for rare disease: Unique challenges and opportunities. Nature Reviews Methods Primers 2(1):s43586-022-00100-2.
Preslan, E. D., and D. J. Mathews. 2013. A comparative analysis of the governance and use of residual dried blood spots from state newborn screening programs and neonatal biobanks. Journal of Empirical Research on Human Research Ethics 8(3):22-33.
Raia, M. H., M. M. Lynch, A. C. Ward, J. A. Brown, N. F. Bonhomme, and V. L. Hunting. 2024. One size does not fit all: A multifaceted approach to educate families about newborn screening. International Journal of Neonatal Screening 10(3):44.
Ram, N. 2022. America’s hidden national DNA database. Texas Law Review 100(7):1253-1325.
Ramshaw, E. 2010. DNA deception. The Texas Tribune. https://www.texastribune.org/stories/2010/feb/22/dna-deception (accessed March 3, 2025).
Rehani, M. R., M. S. Marcus, A. B. Harris, P. M. Farrell, and C. L. Ren. 2023. Variation in cystic fibrosis newborn screening algorithms in the United States. Pediatric Pulmonology 58(3):927-933.
Rink, B. 2024. Webinar on family education for newborn screening, October 7, 2024. Presentation and discussion to the Committee on Newborn Screening: Current Landscape and Future Directions. https://www.nationalacademies.org/event/43820_10-2024_newborn-screening-current-landscape-and-future-directions-webinar-on-family-education-for-newborn-screening (accessed February 13, 2025).
Roberts, M. C., E. M. Wood, J. B. Gaieski, and A. R. Bradbury. 2017. Possible barriers for genetic counselors returning actionable genetic research results across state lines. Genetics in Medicine 19:1202-1204.
Rock, M. J., M. Baker, N. Antos, and P. M. Farrell. 2023. Refinement of newborn screening for cystic fibrosis with next generation sequencing. Pediatric Pulmonology 58(3):778-787.
Rothwell, E., E. Johnson, N. Riches, and J. R. Botkin. 2019. Secondary research uses of residual newborn screening dried blood spots: A scoping review. Genetics in Medicine 21(7):1469-1475.
Rubin, R. 2021. Tackling the misconception that cystic fibrosis is a “White people’s disease”. JAMA 325(23):2330-2332.
SACHRP (Secretary’s Advisory Committee on Human Research Protections). 2015. Attachment E: Recommendations regarding research uses of newborn dried bloodspots and the Newborn Screening Saves Lives Reauthorization Act of 2014. https://www.hhs.gov/ohrp/sachrp-committee/recommendations/2015-april-24-attachment-e/index.html (accessed March 3, 2025).
San-Juan-Rodriguez, A., T. V. Newman, I. Hernandez, E. C. S. Swart, M. Klein-Fedyshin, W. H. Shrank, and N. Parakh. 2018. Impact of community pharmacist-provided preventative services on clinical, utilization, and economic outcomes: An umbrella review. Preventative Medicine 115:145-155.
Schieve, L. A., G. M. Simmons, A. B. Payne, K. Abe, L. L. Hsu, M. Hulihan, S. Pope, S. Rhie, B. Dupervil, and W. C. Hooper. 2022. Vital signs: Use of recommended health care measures to prevent selected complications of sickle cell anemia in children and adolescents—selected US states, 2019. Morbidity and Mortality Weekly Report 71(39):1241-1246.
Simonetti, J. 2024. Panel: State/regional NBS programs–Perspectives on the study task, January 26, 2024. Presentation and discussion to the Committee on Newborn Screening: Current Landscape and Future Directions. https://www.nationalacademies.org/event/41786_01-2024_newborn-screening-current-landscape-and-future-directions-meeting-1b (accessed March 4, 2025).
Sontag, M. K., J. I. Miller, S. McKasson, R. Sheller, S. Edelman, C. Yusuf, S. Singh, D. Sarkar, J. Bocchini, J. Scott, J. Ojodu, and Y. Kellar-Guenther. 2020. Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository. PLoS One 15(4):e0231050.
Susanna Haas Lyons Engagement Consulting. 2024. What we heard: Engagement summary for committee on newborn screening: Current landscape and future directions. Washington, DC: National Academies of Sciences, Engineering, and Medicine.
Suter, S. 2022. Mission creep in newborn screening and DNA forensics. Texas Law Review 101:8-20.
Tanksley, S. 2024. Panel reflections and discussion on public trust, May 16, 2024. Presentation and discussion to the Committee on Newborn Screening: Current Landscape and Future Directions. https://www.nationalacademies.org/event/42550_05-2024_newborn-screening-current-landscape-and-future-directions-meeting-3 (accessed March 4, 2025).
Tarini, B. A., A. Goldenberg, D. Singer, S. J. Clark, A. Butchart, and M. M. Davis. 2010. Not without my permission: Parents’ willingness to permit use of newborn screening samples for research. Public Health Genomics 13(3):125-130.
Therrell, B. L., Jr., W. H. Hannon, D. B. Bailey, Jr., E. B. Goldman, J. Monaco, B. Norgaard-Pedersen, S. F. Terry, A. Johnson, and R. R. Howell. 2011. Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening. Genetics in Medicine 13(7):621-624.
Tluczek, A., K. M. Orland, S. W. Nick, and R. L. Brown. 2009. Newborn screening: An appeal for improved parent education. Journal of Perinatal & Neonatal Nursing 23(4):326-334.
Tluczek A., A. L. Ersig, and S. Lee. 2022. Psychosocial issues related to newborn screening: A systematic review and synthesis. International Journal of Neonatal Screening 8(4):53.
Tschirgi, M. L., K. M. Owens, M. S. Mackall, J. Allen, and R. Allen. 2021. Easing the burden of multi-state genetic counseling licensure in the United States: Processes, pitfalls, and possible solutions. Journal of Genetic Counseling 31(1):41-48.
Vockley, C. W. 2021. Genetic counselors and newborn screening: Roles, activities and future challenges. Presentation to Advisory Committee on Heritable Disorders in Newborns and Children, May 14, 2021. https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/meetings/vockley.pdf (accessed December 30, 2024).
Wadman, M. 2012. Minnesota starts to destroy stored blood spots. Nature. https://doi.org/10.1038/nature.2012.9971 (accessed December 30, 2024).
Wallis, H. 2024. Panel reflections and discussion on public trust, May 16, 2024. Presentation and discussion to the Committee on Newborn Screening: Current Landscape and Future Directions. https://www.nationalacademies.org/event/42550_05-2024_newborn-screening-current-landscape-and-future-directions-meeting-3 (accessed March 4, 2025).
White, E. 2022. Michigan to destroy some blood spots in fight over consent. Associated Press. https://apnews.com/article/technology-science-health-lawsuits-michigan-a68becbf0cb78f8e658cfd39e2420a6c (accessed December 30, 2024).
WHO (World Health Organization). 2017. WHO strategic communications framework for effective communications. Geneva: WHO. https://www.who.int/docs/default-source/documents/communicating-for-health/communication-framework.pdf (accessed December 18, 2024).
Williams, T. 2024. Webinar on family education for newborn screening, October 7, 2024. Presentation and discussion to the Committee on Newborn Screening: Current Landscape and Future Directions. https://www.nationalacademies.org/event/43820_10-2024_newborn-screening-current-landscape-and-future-directions-webinar-on-family-education-for-newborn-screening (accessed: February 13, 2025).
Zimmerman, S. J. 2016. Cystic fibrosis DNA testing reinstated. Memo to Birthing Centers and Hospitals, Physician Officers from Scott J. Zimmerman, North Carolina State Laboratory of Public Health. North Carolina Department of Health and Human Services. https://slph.dph.ncdhhs.gov/doc/Memo-CF-DNA-061016.pdf (accessed December 18, 2024).
