Over 60 leading experts in genetics, pediatrics, neurology, and public health advocates have authored a consensus statement in support of implementing Duchenne newborn screening. Key points of the consensus statement include:

• Timely Intervention: Early screening allows for prompt intervention and therapeutic strategies, slowing disease progression.
• Reduced Diagnostic Delays: Screening eliminates diagnostic delays, reducing avoidable costs and ensuring timely access to treatment.
• Public Health Impact: Screening aligns with preventive medicine principles, promoting early detection and intervention.
• Ethical Justification: The benefits of early screening support ethical considerations, emphasizing informed consent and counseling.

Signed by renowned professionals across the healthcare space, the statement emphasizes the importance of implementation of newborn screening to improve outcomes for children with Duchenne muscular dystrophy. 

This letter has been written amidst the ongoing Evidence-based Review of the Duchenne newborn screening package for the Recommended Uniform Screening Panel (RUSP), as well as the proactive efforts of several states to include Duchenne in their newborn screening panels. It is our hope that this consensus statement will be submitted and considered in the Evidence-based Review process.

RUSP Evidence-Based Review

The Recommended Uniform Screening Panel (RUSP) is a list of disorders that the Secretary of the Department of Health and Human Services (HHS) recommends for states to screen as part of their NBS programs. Having a disorder added to the RUSP shows that there is clear evidence of benefit to the babies and their families for newborn screening of that condition.

In August 2023, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) voted to move the Duchenne package to the more extensive Evidence-based Review. The Evidence-based Review is performed by an external group of experts that spends approximately nine months analyzing Duchenne NBS, to better understand the impact of newborn screening for the condition.  This group will present its findings back to the ACHDNC committee at each quarterly meeting. After all evidence has been presented, the ACHDNC will vote a final time. 

This process remains ongoing, with the next ACHDNC meeting on May 9-10, 2024. PPMD will continue to keep you updated as the process continues. 

PPMD Remains Committed to Newborn Screening

As always, PPMD will continue to support all families affected by Duchenne at every age and stage of progression. Because Duchenne is progressive over time, early treatment is likely to provide optimum benefits. Consequently, PPMD remains committed to newborn screening and equitable early diagnosis for all children with Duchenne.

To learn more about PPMD’s work in newborn screening, email Lauren Stanford at Lauren@parentprojectmd.org.