Newborn Screening Position Statement
I. ASTHO Supports Newborn Screening
The Association of State and Territorial Health Officials (ASTHO) affirms that early identification, diagnosis, and treatment of infants with disorders identified during newborn bloodspot screening (NBS) are vital to preventing significant morbidity and mortality.
II. ASTHO’s recommendations for state and territorial health agencies include strategies to prevent morbidity and mortality by supporting NBS programs, addressing issues of consent and privacy, ensuring systems of care are in place to support newborn screening programs, promoting the use of health information technology and appropriate data collection, facilitating appropriate follow up, engaging in evaluation and quality improvement, and emergency preparedness.
NBS is a core state public health service and should be universal. NBS is part of a comprehensive system of organizations that includes public health, public and private insurers, birthing facilities, clinical specialists, medical homes, labs, follow up programs, and other service providers. Any mandated NBS panel should be accompanied by adequate resources to ensure that education, screening, follow up, diagnosis, treatment, and management services occur, regardless of an individual family’s ability to pay.
Core Recommended Panels
- When deciding on state NBS panels, follow the same principles as the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). Decisions should weigh both the risks and benefits of screening and consider the following factors: burden of illness; birth prevalence of the disorder in the population to be screened; whether the disorder can be detected with a screening test that is ethical, safe, accurate, and cost effective; the availability of effective treatment for the disorder and whether early treatment (i.e., before the onset of symptoms) is more effective in improving health outcomes than later treatment; and the ability to finance all components of the NBS program, not only laboratory testing.1
- Decisions should be informed by the federally approved Recommended Uniform Screening Panel (RUSP)2 of all core conditions and ensure that there are sufficient personnel for sample analysis, short-term follow-up, and implementation of continuous quality improvement practices.
- Provide leadership in promoting federal, state, territorial, tribal, and local solutions to ensure children identified by NBS receive the necessary follow up aligned with any existing comprehensive, national long-term follow up system and coordinated with services and reimbursement under Medicaid, Children’s Health Insurance Program (CHIP), early intervention programs, Title V Maternal and Child Health programs, ACHDNC, and other agencies.
Consent and Privacy
- Policies must be in place to ensure the privacy and confidentiality of individuals and families are respected and that samples are protected. Informed consent is an important element of research on identifiable newborn screening samples.
- Develop clear policies that incorporate best practices from state health agencies across the nation that articulate the rationale, objectives, potential risks or benefits, and procedures associated with NBS dried bloodspot retention and research. These policies should establish specific guidelines consistent with federal laws and ethical standards on the length of time specimens will be stored (short-term: less than 3 years; long-term: greater than 18 years);3 use of identifiable and unlinked samples; the security, privacy, and confidentiality of the samples; the conditions of storage; and allowances for parents or the child upon turning 18 years old to opt out of bloodspot storage or use of their bloodspots for future research.
- Ensure that current newborn screening activities that use de-identified specimens for maintaining laboratory certification, troubleshooting technical issues with existing screening methods and test systems, training and technical support, and testing systems to satisfy proficiency testing requirements be exempt from Section 12 of the Newborn Screening Saves Lives Reauthorization Act of 2014, which addresses the issue of informed consent for newborn screening research.
Systems of Management, Care, and Funding
- Take steps to ensure an adequate healthcare and public health workforce, which is critical to the expansion and long-term management of any NBS program.4
- Children with disorders should have a “medical home” in which clinicians provide integrated healthcare services that both address the patients’ healthcare needs and promote partnerships between providers and families.
- Collaborate with appropriate partners to promote accessible systems of care and incorporate evidence-based testing and treatment, as well as funding that balances the interests of the affected newborns with those of society.
- Coordinate with private insurers, Medicaid, and CHIP, to arrange insurance coverage for NBS.
- When eligible, ensure that children with diagnosed disorders are linked to Children and Youth with Special Health Care Needs Programs, hospitals, education, social services systems, and Special Supplemental Nutrition Program for Women, Infants, and Children programs. States should work to ensure that a safety net exists for those children without insurance.
- Work with medical associations, hospitals, family groups, and others to increase public awareness and education, improve health literacy about NBS programs, and ensure that professional training and family education reflect current and accurate health information.
Health Information Technology and Data
- Health information technology and exchange should be used whenever feasible to support follow-up services and reduce errors in providing healthcare. Interoperability standards should meet clinical and public health needs for sharing information among systems.
- NBS results should be included in all electronic and paper clinical health records. NBS results included in electronic health records or linked to birth certificates, to the extent feasible, enhance surveillance and short-term follow up.
- NBS, point-of-care screening, Vital Records, Birth Defects Surveillance System, and PRAMS, where applicable, should work together and, to the extent possible, link NBS data with these other birth data. NBS data should also be linked to death records prior to follow up with parents to prevent contact if an infant is recently deceased.
- As resources allow, participate in state efforts to collect and monitor aggregate quality indicators representing all infants screened to monitor short-term outcomes for infants with positive screening results.
- Appropriate agencies should support and track short term follow-up of newborn screening, which consists of following screen positives until a diagnosis is made.
- Begin long term follow-up once diagnosis of a condition occurs and needs to be linked to services and take into consideration the life course of the child, the natural history of the condition, and its long-term effects.
- Participate in regional and national efforts to collect and monitor information on long-term outcomes for infants with positive screening results and confirmed disease, as infrastructure and program resources allow or are available.
- NBS and follow-up services should be provided in settings as close as possible to the individuals and families receiving services, including telemedicine, and tailored to the particular needs of each community.
Evaluation and Quality Improvement
- Assure that the state newborn screening program meets national guidelines for timeliness, conditions screened, and other changes in science and technology by regularly reviewing and updating state plans, processes, and procedures, and assessing program effectiveness.
- Collect and analyze newborn screening data to understand problems and implement quality improvement activities and monitor progress.
- Collaborate and communicate with stakeholders, including hospitals and hospital associations, to share information, identify problems, and implement changes, as needed.
- Develop contingency plans at every level in the event of a state or national emergency to support effective and timely collection and testing of samples, reporting of screening results to physicians and families, continuing diagnostic confirmation of positive screening results, and availability of treatment and management resources.
III. ASTHO’s Recommendations for the Federal Government:
- Provide clear guidance and technical assistance to states regarding the interpretation of privacy regulations, confidentiality concerns, prevention of discrimination, and quality assurance associated with NBS and federal regulations regarding the use of NBS bloodspots for research.
- Support and provide adequate resources to increase state capacity to administer comprehensive NBS systems, share effective practices, and provide a forum to conduct ongoing evaluation of any recommended panel of tests or emerging technologies.
- Maintain an adequate safety net for children with heritable disorders and genetic diseases, who are often not considered “disabled” for the purposes of Medicaid.
- Establish standards for data collection consistent with ethical and legal standards regarding privacy, confidentiality, and consent:
○ Linking data systems such as Vital Records and Birth Defects Surveillance with NBS.
○ Promoting data sharing and collaboration at the federal, regional, state, territorial, tribal, and local levels to develop guidelines on long-term follow up and treatment.
○ Following individuals as they move geographically and through systems.
○ Providing assistance to states to carry out standards.
- Promote the coverage of medical foods that are required to prevent disability or death in children with inborn errors of metabolism detected through newborn screening.
- Continue to support the National Institutes of Health’s Newborn Screening Translational Research Network program, which provides an open-source, web-based tool that enables state program personnel to control and manage access to specimens for newborn screening related research.
- Consider long-term follow up efforts regarding access to an affordable, coordinated health system for children across the lifespan to be a combination of local, state, and federal efforts.
- Support state laboratories and public health agencies that provide NBS services during emergency situations with guidelines, technical assistance, and other resources including facilitating expeditious agreements between states for screening services in an emergency or a disaster.
ASTHO recognizes newborn screening as a highly valuable and successful public health service that assists in early identification, diagnosis, and care management for infants with congenital, functional, or genetic disorders. ASTHO also recognizes that decisions regarding newborn screening are significant and may result in unintended consequences that states should carefully consider. For more than 50 years, state public health agencies have administered newborn screening through the use of a dried bloodspot card collected from the heel of nearly all of the about 4 million babies born each year in the United States.5 Approximately 12,000 babies with severe disorders are identified each year as a result of newborn screening programs,6 yielding benefits for children and families by preventing significant morbidity and mortality. Given that this is a rapidly changing field, ASTHO will continue to monitor trends and emerging issues.
On Dec. 18, 2014, President Obama signed into law the Newborn Screening Saves Lives Reauthorization Act of 2014 (Act)7, which reauthorizes federal programs that support states in improving and expanding their newborn screening programs to ensure that every newborn is tested for at least 32 conditions. The Act also reauthorizes federal programs that support provider and parent education and ensure laboratory quality and surveillance for newborn screening programs.8 Section 12 of the Act addresses the issue of informed consent for newborn screening research. The Act provides that “research on newborn dried bloodspots shall be considered research carried out on human subjects meeting the definition of §46.102(f)(2) of Title 45, Code of Federal Regulations for purposes of Federally funded research.”9 The Act applies to newborn dried bloodspots collected 90 days after enactment and until regulatory updates to the federal policy are promulgated. Section 12 of the Act does not require consent to be obtained before the initial bloodspot is collected and tested. Bloodspots collected prior to March 2015 are not covered by the amendment.10 The Secretary's Advisory Committee on Human Research Protections met in May 2015 and made recommendations to the Secretary of Health and Human Services regarding the Act that are currently under review.
Although the American College of Medical Genetics and Genomics (ACMG) and Health Resources Services Administration (HRSA) issued guidelines for NBS programs in 2005, states have independently set policies for their programs and these policies vary in their capacity to execute the guidelines set by ACMG and HRSA. The number of conditions that states test for ranges from 29 to 59, with most programs screening for approximately 40 conditions.11 ASTHO also recognizes the importance of newborn screening, such as point-of-care screening (e.g., screening for hearing and critical congenital heart disease), as important mechanisms to improve population health.
ASTHO Position Statements relate to specific issues that are time sensitive, narrowly defined, or are a future development or interpretation of ASTHO policy. Statements are developed and reviewed by appropriate Policy Committees and approved by the ASTHO Board of Directors. Position Statements are not voted on by the full ASTHO membership.
Access Policy Committee review and approval: September 2015
Board of Directors review and approval: December 2015
Policy expires: December 2018
ASTHO policies are broad statements of enduring principles related to particular policy areas that are used to guide ASTHO’s actions and external communications.
Related ASTHO Documents
- Kemper AR, Green NS, Calonge N, Lam WK, Comeau AM, Goldenberg AJ, Ojodu J, Prosser LA, Tanksley S, Bocchini JA. “Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.” Genetics in Medicine. 2013. Available at: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/
reportsrecommendations/reports/decisionmakingprocessforconditions.pdf. Accessed 10-16-2015.
- Advisory Committee on Heritable Disorders in Newborns and Children. “Recommended Uniform Screening Panel Core Conditions.” Available at: http://www.hrsa.gov/advisorycommittees/mchbadvisory/
heritabledisorders/recommendedpanel/uniformscreeningpanel.pdf. Accessed 10-16-2015.
- Health Resources and Services Administration (HRSA). “Considerations and Recommendations for National Guidance Regarding the Retention and Use of Residual Dried Blood Spot Specimens After Newborn Screening.” 2010. Available at www.hrsa.gov/advisorycommittees/mchbadvisory/
heritabledisorders/reportsrecommendations/reports/residualdriedbloodspots.pdf. Accessed 4-14-2015.
- U.S. General Accounting Office. “Newborn screening: characteristics of state programs.” Washington, DC: U.S. General Accounting Office. 2003. Available at http://www.gao.gov/new.items/d03449.pdf. Accessed 4-14-2015.
- CDC. “National Vital Statistics Reports. Births: Final Data for 2013.” Available at: http://www.cdc.gov/nchs/data/nvsr/nvsr64/nvsr64_01.pdf. Accessed 9-8-2015.
- Association of Public Health Laboratories. “Newborn Screening and Genetics.” Available at http://www.aphl.org/aphlprograms/newborn-screening-and-genetics/Pages/Newborn-Screening-FAQs.aspx. Accessed 7-2-2015.
- Congress.gov. “H.R.1281 - Newborn Screening Saves Lives Reauthorization Act of 2014. 113th Congress (2013-2014).” Available at: https://www.congress.gov/bill/113th-congress/house-bill/1281. Accessed 4-13-2015
- March of Dimes. “Newborn Screening Saves Lives Reauthorization Act Passes by Senate.” Available at: http://www.marchofdimes.org/news/newborn-screening-saves-lives-reauthorization-act-passed-by-the-senate.aspx#. Accessed 4-16-2015,
- ASTHO. “Informed Consent for Newborn Screening Research.” Available at: http://www.astho.org/Public-Policy/Public-Health-Law/Resources/Informed-Consent-for-Newborn-Screening-Research/. Accessed 4-13-2015.
- March of Dimes. “Newborn Screening Saves Lives Reauthorization Act Passes by Senate.” Available at: http://www.marchofdimes.org/news/newborn-screening-saves-lives-reauthorization-act-passed-by-the-senate.aspx#. Accessed 4-16-2015.
- Baby’s first test. “Conditions Screened By State.” Available at: http://www.babysfirsttest.org/newborn-screening/states. Accessed 4-16-2015.