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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Status of newborn screening programs in the United States
Bradford L Therrell1, Alissa Johnson, Donna Williams
1National Newborn Screening and Genetics Resource Center, Austin, TX 78757, USA. therrell@uthscsa.edu
Insights
Newborn screening programs vary significantly across the US, leading to inequities in care. This study provides baseline data to evaluate and refine these essential public health services.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Background:
- Newborn screening programs aim to detect congenital conditions early to prevent severe health outcomes.
- Despite expansion, screening varies significantly across US states, impacting equity.
- Statutory requirements, regulations, and financing differ dramatically among the 51 US programs.
Purpose of the Study:
- To investigate and document variations in US newborn screening programs as of January 2005.
- To establish baseline data for future comparisons and program evaluations.
- To identify policy issues influencing the success and equity of newborn screening.
Main Methods:
- Utilized program surveys to gather information on screening practices.
- Conducted electronic searches of relevant legislation.
- Validated data through input from program decision-makers.
Main Results:
- Compiled newborn screening statutes and genetic privacy laws affecting programs.
- Reviewed state laws on specimen and information retention.
- Analyzed policies on residual blood spot usage and brochure dissemination strategies.
Conclusions:
- Newborn screening remains a critical population genetic screening initiative.
- Increasing complexity of screening systems parallels complex policy challenges.
- The study's findings offer a foundation for national and individual program evaluation and refinement.
Background:
Newborn screening programs have expanded over the years; currently, many programs screen for dozens of congenital conditions that, if not detected and treated early, could result in catastrophic health consequences, including death. Some programs, however, still require universal newborn screening for only a few conditions. Although all 51 US programs (all states and the District of Columbia) have statutory screening requirements and similarities exist in many parts of the different screening systems, the enabling statutes, rules, regulations, protocols, and financing strategies vary dramatically. Consequently, there is a significant lack of equity in newborn screening services across the country.
Methods:
We investigated program variations existing in and around January 2005 and provide baseline information with which future program comparisons can be made. We used program surveys, electronic searches of legislation, and individual input (validation) from program decision-makers to create a reservoir of program information.
Results:
Included is a compilation of pertinent newborn screening statutes, information from genetic privacy statutes that potentially affects newborn screening programs, and a review of state laws that affect specimen and information retention. In addition, program policies related to the use of residual newborn screening blood spots are reviewed, along with the developmental processes affecting program informational brochures, including the information contained and the strategies for brochure dissemination.
Conclusions:
Building on a progressive and successful history, newborn screening continues as an example of an essential population genetic screening program. As the intricacies of screening systems have increased in complexity, so have the policy issues that shape program successes and failures. The summary information in this article provides a basis for national and individual program evaluation. Indeed, some of the information reported here has already been useful for program refinements reported elsewhere in this supplement.
