The federal law governing newborn screening activities has been recently updated with congressional approval of The Newborn Screening Saves Lives Act, which was signed into law by the President in April 2008.  The legislation makes important improvements to federal newborn screening policy; these changes, in concert with Families of SMA's active leadership in the community effort to nominate SMA for inclusion in the federal newborn screening panel developed by the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, are making it increasingly likely that all newborns in the United States will be screened for SMA at birth in the foreseeable future.

About the Newborn Screening Saves Lives Act

The recenlty enacted legislation attempts to further strengthen the federal role in newborn screening policy and to improve the newborn screening infrastructure.  It requires the Health Resources and Services Administration (HRSA) within the Department of Health and Human Services (HHS) to: (1) contiune awarding grants to states, local governments, and private non-profits in order to carry out newborn screening activities, (2) conduct pilot studies evaluating the effectiveness of newborn screening programs, (3) provide education and training in newborn screening and congenital, genetic, and metabolic disorders to health care professionals and newborn screening laboratory personnel, (4) develop educational programs on newborn screening for the general public, and (5) establish a central clearinghouse for information on newborn screening and all related federal activities, which must be made available on the Internet.
 
The legislation requires the Centers for Disease Control and Prevention (CDC) within HHS to provide for quality assurance for newborn screening tests, performance evaluation services, and technical assistance to newborn screening laboratories.  Additionally, CDC must establish a national contingency plan for newborn screening in the event of a public health emergency.

The Secretary of HHS is required to establish an Interagency Coordinating Committee to assess existing newborn screening activities and infrastructure; make recommendations for the establishement of regional centers to conduct applied epidemiological research on interventions to prevent poor health outcomes from such disorders and providing information and education to the public.

The National Institutes of Health (NIH) is required by the legislation to coordinate and expand research in newborn screening.  Specifically, the NIH shall: (1) identify, develop, and test the most promising new screening technologies in order to improve existing newborn screening tests and expand the number of disorders for which newborn screening is available; and (2) fund research on experimental treatments and disease management strategies for disorders that can be identified through newborn screening but do not have treatments currently available.  The latter activity is particularly important to SMA, which can be identified through an existing and accurate newborn screening test.

The legislation also significantly strengthens the Advisory Committee.  The bill specifically spells out in statute that the Advisory Committee is authorized to make recommendations regarding the heritable disorders for which all newborns should be screened and to develop a model decision-matrix for newborn screening program expansion.  Furthermore, it requires the Secretary of HHS to act upon these recommendations within 180 days and it adds as a condition for state eligibility for federal newborn screening grants that the state has or is implementing the Advisory Committee’s guidelines and recommendations. 

Next Steps

In practice, this means that the uniform federal panel developed by the Advisory Committee will become the de facto law of the land with regard to newborn screening policy.  Furthermore, policies are now in place to help disorders such as SMA that can benefit from newborn screening but for which a treatment is not currently available.  At the time that SMA is accepted by the Advisory Committee for inclusion in the federal panel, the legislation nearly ensures that each of the 50 states will adopt SMA for inclusion in their state panels.