On October 25, 2021, Rare Disease Legislative Advocates (RDLA) held a virtual briefing for the Rare Disease Congressional Caucus. The subject of this briefing was newborn screening and ongoing discussions on how to modernize the program for a future where a greater number of genetic disorders will likely have effective, disease-altering therapies.

The Rare Disease Congressional Caucus is a bipartisan, bicameral caucus that engages members of Congress on policy considerations that are relevant to the rare disease patient community and help give a voice to this community. Leaders of the caucus include reps G. K. Butterfield (NC) and Gus Bilirakis (FL), as well as senators Roger Wicker (MS) and Amy Klobuchar (MN).

Speakers during the briefing included:

• Richard Finkel, MD, FAAN, Director of Experimental Neurotherapeutics in Translation Neuroscience Program, St. Jude Children’s Research Hospital 
• Dylan Simon, Diagnostics and Newborn Screening Policy Manager, EveryLife Foundation for Rare Diseases
• Niki Armstrong, MS, CGC, Director of Community Research and Genetic Services, Parent Project Muscular Dystrophy
• Meagan Perry, Director of Public Affairs and Advocacy, Orchard Therapeutics
• Don Bailey, Ph.D., Fellow Program Chair and Distinguished Fellow in Early Childhood Development, RTI International

Dr. Finkel is experienced in treating pediatric cases of rare neurological diseases and emphasized the importance of newborn screening as a vital tool that allows more patients to get a timely diagnosis. Many patients see better outcomes if they can begin treatment early in the course of the disease or even before symptoms begin to appear. Getting treated this early is simply not possible without newborn screening much of the time.

Dylan provided an update on the Newborn Screening Saves Lives Reauthorization Act. The bill has recently passed in the House but has not made progress in the Senate. Among other benefits, the law would boost funding in several key areas such as:

• Health Resources and Services Administration
• Improving transparency of the RUSP nomination process
• Reauthorizing CDC to give grants to states that ensure quality assurance in the lab
• Orders the National Academy of Medicine to start a study that will aim to determine how to modernize the newborn screening system.

Niki has been pushing to get Duchenne muscular dystrophy (DMD) onto screening panels throughout the country. In particular, her organization hopes to get the disorder added to the Recommended Uniform Screening Panel (RUSP). They have been progressing towards that goal through a pilot program in New York state.

Meagan discussed a recent study which found that 60 approved gene therapies are likely to reach the market by 203o. This would herald a major upheaval for the newborn screening system, as an available therapy is a major prerequisite to get a disorder on screening panels. The current system would not be capable of handling such an influx. While it has helped save thousands of lives over the years, there’s no doubt that modernization is going to be vital for its future success.

Don’s organization has been conducting vital research that is intended to inform future policy decisions in this area. Their findings also call for improvements to the newborn screening system, such as a greater availability and reliance on sequence testing or genetic testing instead of chemical testing. With a new slate of therapies entering the market that act on the underlying mechanism of genetic disorders, a number of solutions and upgrades are being proposed such as:

1. Only 6 conditions have been approved since 2006, which is totally unacceptable
2. Create mechanisms that will allow for screening  for conditions beyond those that are part of RUSP
3. Accelerate and expand the collection of data in order to inform policy decisions and implementation.
4. Help states implement NBS more comprehensively and add new disorders to state panels
5. Evaluate emerging methods of screening and their outcomes/consequences
6. Establish cross-state data coordination
7. Create a network of regional screening labs
8. Align programs across federal agencies.
9. Expanded state and research funding