MDA is committed to promoting policies and programs that move newborn screening (NBS) forward for neuromuscular disorders—which is why MDA is engaged in multiple efforts to support this important public health program.

Of the 40+ disorders under MDA’s umbrella, in 2015 Pompe disease was added to the recommended uniform screening panel (RUSP) –a national list that identifies disorders that each state is recommended to screen all newborns for. And recently, July 2018, spinal muscular atrophy (SMA) was also added to this list. Starting in January 2024, all 50 states now screen newborns for SMA.  

You can read more information about newborn screening on our fact sheet.

Background
Newborn screening (NBS) is a public health program that screens babies in every state when they are born for certain diseases that are inherited and for which there is a treatment.  Screening at birth is important because it allows babies born with certain serious or life-threatening diseases to be identified early, which facilitates early intervention and treatment which can for some diseases be the best—or only—path to change to the natural history of the disease.

While NBS programs are in the domain of the states, and each state administers its own program and its own panel, there is a national list of disorders that the Secretary of Health and Human Services recommends that each state include on their testing panels. This is called the Recommended Uniform Screening Panel. The diseases on the RUSP have been identified as disorders where early identification and intervention are key, where there is an approved therapy that needs to be given to babies as early as possible to have maximum benefit, and where data supports the feasibility of the disorder to be screened for at birth.  Diseases are added to the list in a comprehensive nomination and review process.

For more information about the NBS public health program in the U.S., visit MDA’s Newborn Screening page.

Current Efforts
Reauthorizing the Newborn Screening Program

Unfortunately, in 2019 the federal Newborn Screening Program’s authorization lapsed. Even though the program is funded and operational, it is vital Congress reauthorization it as soon as possible. MDA will continue efforts to reauthorize the federal newborn screening program.

Adding New Disorders to the RUSP

MDA is committed to supporting the addition of neuromuscular disorders to the RUSP at the national level through the nomination and review process as governed by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC).  This Committee operates under the Secretary of Health and Human Services and is comprised of representatives from public health and regulatory agencies along with clinical experts and patient advocates, who meet regularly during the year to consider the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and standards, as well as diseases to be added to the RUSP.  The Committee was established under Newborn Screening Saves Lives Reauthorization (NBSSL) Act of 2014, and MDA is pleased to share information with the committee relevant to screening newborns for disorders under MDA’s umbrella.

MDA appreciates that adding a disorder to the RUSP is a community effort, and we are proud to be collaborating with stakeholders to move NBS forward for additional disorders, such as Duchenne muscular dystrophy (DMD).

Ensuring Sufficient Federal Funding for NBS

The success of the NBS program depends on a collaboration at the federal and state levels. While each state manages its individual NBS program, important programs at the national level support NBS nationwide, and the operation and success of those efforts rely on federal funding.  State NBS programs can be slow to add new conditions to NBS panels due to lack of funding, infrastructure, and expertise.  

MDA, along with a coalition of organizations committed to NBS, are urging Congress to provide additional increases to NBS.  Federal support and funding is essential to the success of our nation’s NBS programs and we need your help to ensure that Congress allocates sufficient funds to support NBS programs nationwide. Please take a moment to let your members of Congress know that NBS is a critical public health program that requires federal funding to ensure that all babies in each state have the same opportunity to be identified and treated for serious and life threatening diseases through the NBS programs.

If you are not already an MDA advocate, please join us.