MDA Advocacy Team Reports Updates in Newborn Screening Legislation

This year has been an eventful year for newborn screening in neuromuscular disease, with potential further progress on the near horizon. We began 2025 with all 50 states screening for spinal muscular atrophy (SMA), meaning nearly all babies born in the United States can be screened for SMA leading to a rapid diagnosis and near immediate treatment. Pompe disease is screened for in 47 states, with Texas most recently adding Pompe to its panel this summer.

Progress was achieved in Duchenne muscular dystrophy (DMD) newborn screening as well. Minnesota started screening for DMD in February, and Florida, Texas, and Arizona announced their intentions to screen for Duchenne in the coming few years.

The importance of newborn screening

Newborn screening facilitates a diagnosis of a serious and progressive condition within the first few weeks of life. This allows treatment to be administered as quickly as possible, often preventing the most severe effects of the disease from harming the child. In many diseases, newborn screening is lifesaving. Before newborn screening, these diseases would go undetected until some of the worst clinical manifestations progressed to irreversible levels. Children born with certain types of SMA and Pompe frequently died before their first birthday. With newborn screening and early treatment, these same children are able to thrive, often seeming unaffected to those unaware of their diagnosis.

Progress and setbacks

Unfortunately, the news this year was not all positive. In April, the federal Department of Health and Human Services announced the termination of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. This decision came just over a month before the committee was set to vote on whether to recommend DMD to be added to the federal Recommended Uniform Screening Panel (RUSP). This was a major setback as MDA, along with our co-nominator Parent Project Muscular Dystrophy, had been working for several years to reach that moment. Instead, the future of the Duchenne nomination remains up in the air.

Thankfully progress has still been made. In August, the Department of Health and Human Services announced a “Request-for-Information” (RFI) in which they ask for the public’s viewpoints on adding DMD to the RUSP. We are asking the entire Duchenne community to voice their support for Duchenne newborn screening. The deadline is September 15^th.

Improvements for a brighter future

At the same time, we are trying to improve our newborn screening ecosystem for future generations of the neuromuscular disease community. In July, MDA worked with Congressional partners to introduce the Newborn Screening Saves Lives Reauthorization Act. This legislation strengthens our newborn screening ecosystem in many ways. The bill strengthens programs that assist states with adding new screens onto their panels, expands technical expertise offered to state laboratories and follow up programs, and more.  The legislation should also eventually help more neuromuscular diseases find their way onto newborn screening panels in the not-so-distant future.

Newborn screening continues to be one of the very best ways to accelerate diagnostic timelines for those with NMDs. Please join us in the effort!