Newborn Screening - Position Statement

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 screening (NBS)—including bloodspot screening and point-of-care screening (e.g., screening for hearing and critical congenital heart disease [CCHD])—are vital to preventing significant morbidity and mortality. The retention of residual bloodspot cards from these tests is essential for future disease prevention.

ASTHO’s Principles for a Comprehensive Newborn Screening System:

• NBS is a core state public health service and should be universal. As a comprehensive system, any mandated NBS panel must be accompanied by adequate resources to ensure that screening, followup, diagnosis, treatment, and management services occur, regardless of an individual family’s ability to pay.
• NBS is critical to the early identification, diagnosis, and treatment of infants with disorders and thus vital to preventing significant morbidity and mortality. NBS should be provided for every child.
• NBS and followup services must be provided in settings close to the individuals and families receiving services and tailored to the particular needs of each community.
• Information on newborn screening services, screened conditions, options, and technologies must be presented in an unbiased manner and be culturally and linguistically appropriate.
• Policies must be in place to ensure the privacy and confidentiality of individuals and families is respected and that samples are protected.
• Systems must be accessible and must incorporate evidence-based testing and treatment, as well as funding that balances the interests of the affected newborn with those of society.
• NBS, point-of-care screening, Vital Records, and the Birth Defects Surveillance System must work together and, to the extent possible, link NBS data with these other birth data.
• NBS results must be included in all clinical health records, electronic and paper. NBS results included in electronic health records, to the extent feasible, enhance surveillance and short-term followup.
• Decisions regarding NBS panels should be focused on the patient and family and must consider: 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 impact of false positive tests on families; 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.
• Evolving technology may make it possible to test for conditions for which the etiology of the condition is unknown and for which there is no known effective treatment. Laboratories may choose to offer testing for these conditions. In such circumstances, parents and healthcare providers have the responsibility to determine the best course of care.
• Long-term followup begins once detection for a condition occurs and needs to be linked to services and take into consideration the life course and long-term effects. Followup ends when the youth transitions into an adult treatment and service delivery system at 21 years of age. However, adult service delivery systems must work with pediatricians to address the ongoing needs of transitioning youth so that their health is not jeopardized by lack of access.
• NBS programs must represent a comprehensive and coordinated system encompassing education, screening, followup, diagnosis, evaluation, and management.
• Coordination must occur with private insurers, the State Children’s Health Insurance Program (SCHIP), and Medicaid to arrange insurance coverage for NBS and for children with screened conditions, and when eligible, be linked to Children and Youth with Special Health Care Needs Programs, education, and social services systems.
• Health information technology and exchange must be used whenever feasible to support immediate and long-term followup and to reduce errors in providing healthcare. Interoperability standards should meet clinical and public health needs for sharing information among systems.
• Children with disorders must have a “medical home” in which clinicians provide integrated healthcare services that both address the patients’ healthcare needs and promote partnerships between providers and patients.

ASTHO’s Recommendations for State and Territorial Health Agencies:

• Adopt and incorporate the American College of Medical Genetics and Genomics (ACMG)/ Health Resources Services Administration (HRSA) recommended uniform screening panel (RUSP) of all core conditions and ensure that there are sufficient personnel for sample analysis and short-term followup. This is especially important if CCHD screening is undertaken, which as of September 2011 is included in the RUSP, as immediate followup is needed prior to hospital discharge for infants with positive screening results.ⁱ Strategies for ensuring adequate expertise in urban and rural areas and multilingual communities are particularly important. An adequate healthcare and public health workforce is critical to the expansion and long-term management of any NBS program.¹
• Provide leadership in promoting federal, state, territorial, tribal, and local solutions to ensure children affected by any of the RUSP conditions receive the necessary followup aligned with any existing comprehensive, national long-term followup system and coordinated with services like SCHIP, early intervention programs, Title V Maternal and Child Health programs, and with other agencies and the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Failure to consider the system in its entirety can result in a fragmented system unable to improve the public’s health.
• Develop contingency plans at every level in the event of a public health emergency. States must support effective and timely reporting of screening results to physicians and families and continuing diagnostic confirmation of positive screening results. The availability of treatment and management resources must be ensured, and families should be educated about NBS in the event of a state or national emergency.
• Integrate NBS data systems with vital registration, immunization registries, birth defects registries, NBS short-term followup, and genetics databases to promote efficiency and continuity of care.ⁱⁱ
• 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.
• Continue to facilitate the development of healthcare systems in which primary care clinics serve as a “medical home,” provide or link affected children to needed personal health services, and monitor the overall health status of the patients under their care.
• 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 are available.
• Develop policies that incorporate best practices from state health agencies across the nation, that articulate the rationale, objectives, and procedures for retaining NBS residual bloodspots. These policies should establish specific guidelines consistent with federal laws and ethical standards on the length of time specimens will be stored (short term: <3 years; long term: >18 years);² use of identifiable and unlinked samples; security, privacy, and confidentiality of the samples; the conditions of storage; and allowances for individuals to opt out of bloodspot storage.
• Establish clear disclosure procedures regarding all potential risks and/or benefits associated with dried bloodspot retention and research, including the option for parents and/or the child upon turning 18 years old to decide whether to store or use bloodspots for future research.
• Periodically review and update state plans to assess effectiveness and reflect changes in science and technology.

ASTHO’s Recommendations for Federal Government:

• Consider long-term followup 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 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.
• Support state laboratories and public health agencies that provide NBS services during emergency situations with guidelines, technical assistance, and other resources.
• Establish standards for data collection:

1. Linking data systems such as Vital Records and Birth Defects Surveillance with NBS.
2. Promoting data sharing and collaboration at the federal, regional, state, territorial, tribal, and local levels to develop guidelines on long-term followup and treatment.
3. Tracking individuals as they move geographically and through systems.
4. Providing assistance to states to carry out standards.

• Develop a mechanism, consistent with state and federal confidentiality laws, to provide state newborn screening programs or researchers access to information regarding location and availability of newborn bloodspot repositories.
• Provide technical assistance to states regarding the interpretation of privacy regulations, confidentiality concerns, prevention of discrimination, and quality assurance associated with NBS.
• Maintain an adequate safety net for children with heritable disorders and genetic diseases, who are often not considered “disabled” for the purposes of Medicaid.

Background

ASTHO recognizes newborn screening as a highly valuable and successful public health program that assists in early identification, diagnosis, and management of infants with congenital, functional, or genetic disorders. For more than 40 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 4.2 million babies born annually in the United States.³ Approximately 5,000 babies with severe disorders are identified each year as a result of newborn screening programs,⁴ yielding benefits for children and families by measurably reducing health disparities and preventing significant morbidity and mortality.

While ACMG/HRSA issued guidelines for NBS programs in 2005, states have independently set policies for their programs and vary in their capacity to execute them. To determine the criteria for their NBS programs, states consider the following: how often the disorder occurs in the population, whether an effective screening test exists to identify the disorder, and whether the disorder is treatable.⁵ These criteria are consistent across states and align with the American Academy of Pediatrics newborn screening task force.⁶ The number of disorders ranges from four to 36 in state programs, with most programs screening for eight disorders or fewer.⁷  

A 2003 report from the U.S. Government Accountability Office estimated that the cost of NBS was approximately $20-40 per infant screened or $120 million per year.⁸ A base-case analysis of various strategies for screening for newborn diseases suggests that NBS programs will likely save money over the long term.⁹ Of the screening tests included in the analysis, a majority resulted in improved outcomes and reduced costs relative to not screening.¹⁰ State NBS programs are funded primarily through fees paid by healthcare providers, with 43 states reporting that fees support all or part of program expenditures.¹¹ The average fee charged is about $31 (range $10-$60) in states that charge a fee.¹²  

Conditions associated with congenital malformations are not always evident through these routine screening procedures and are therefore often missed prior to the infant’s discharge from the hospital. The use of pulse oximetry to screen for these severe congenital abnormalities has been shown to be effective in the early identification of these conditions and has the potential to save many newborn lives. On Sept. 21, 2011, Secretary of Health and Human Services (HHS) Kathleen Sebelius recommended that screening for CCHD be added to the recommended uniform screening panel based on the endorsement of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children and the Strategies for Implementing Screening for Critical Congenital Heart Disease document.¹³ Further, the American Academy of Pediatrics endorsed the HHS recommendation for pulse oximetry screening for CCHD.¹⁴

Approval History

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 on October 24, 2012. 

Board of directors review and approval on December 3, 2012. 

Policy expires on December 2015. 

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

• ASTHO State Public Health Policy Statement 
• Access to Care Policy Statement 
• A Transformed Health System in the 21^st Century Position Statement 
• Improving Birth Outcomes Position Statement 

i. Recommendations must incorporate emerging information and new research ( e.g., many states are still assessing CCHD reference values in areas of high altitude due to an increased number of false positives in healthy newborns). Salas AA. “Pulse oximetry values in healthy term newborns at high altitude.” Ann Trop Paediatr. 2008. 28(4):275–278.

ii. ASTHO e-Health Policy Statement, Section VI. Privacy: Use of data must balance a public health agency’s need to know, in order to inform public health actions, with the rights of individuals to have their personal information protected. Since public health relies on the secondary use of personal clinical health information, related policies should include appropriate provisions for the protection of public health access. (www.astho.org/WorkArea/DownloadAsset.aspx?id=165)