Report 9 of the Council on Science and Public Health (A-06)

Standardization of Newborn Screening Programs

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Summary

Objectives.  To review the current status of newborn screening in the United States and provide an update on recent efforts to develop and implement nationally recognized newborn screening standards and policies.  Current federal involvement, a proposed core and secondary screening panel, and barriers to implementation of standardized newborn screening are addressed.

Data Sources.  Literature searches were conducted in the MEDLINE database for English-language articles published between 2000 and 2006 using the search terms newborn screening and newborn genetic testing.  The U.S. General Accounting Office’s 2003 report entitled Newborn Screening: Characteristics of State Programs, and the Health Resources and Services Administration’s (HRSA) 2005 report entitled Newborn Screening: Toward a Uniform Screening Panel and System, were primary sources of information on the current status of state newborn screening and proposed standardization.

Results.  Newborn screening is available to all infants born in this country, but states vary widely in the number of disorders for which they screen.  The non-uniformity across state programs has prompted a call by advocacy groups, medical professionals and specialty societies, and other individuals for more prominent national involvement in newborn screening.  In 2001, HRSA contracted with the American College of Medical Genetics (ACMG) to convene an expert committee to conduct a thorough analysis of the scientific literature and use the best scientific evidence to develop a panel of recommended disorders for inclusion in all state newborn screening programs.  Twenty-nine disorders were identified as primary targets and recommended for inclusion in a standardized newborn screening core panel, and screening for an additional 25 disorders was recommended as part of a secondary target panel.  Broad support for standardization of newborn screening and for the recommendations in the ACMG report has been submitted to HRSA, although some concerns about the methodology and lack of attention to ethical considerations exist.

Conclusions.  A need exists for national guidelines and standardized policies on newborn screening that will help eliminate disparities between states and improve the overall quality of screening programs. A substantial challenge is to find a balance between costs and the need to perform uniform, comprehensive screening on all newborns, regardless of where they are born in the United States.  Discussions and research should continue, with careful consideration of the potential benefits and negative effects of standardized newborn screening.

RECOMMENDATIONS

The following statements, recommended by the Council on Science and Public Health, were adopted by the AMA House of Delegates as AMA policy and directives at the 2006 AMA Annual Meeting:

1. The AMA recognizes the need for uniform minimum newborn screening (NBS) recommendations. (Policy)
2. The AMA will encourage continued research and discussions on the potential benefits and harms of NBS for certain diseases. (Directive)
3. The AMA will monitordevelopments in the effort to implement a uniform minimum newborn screening panel, including status of the pending Health Resources and Services Administration report entitled Newborn Screening: Toward a Uniform Screening Panel and System, and the ongoing expansion of required tests by each state. (Directive)

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