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US Adds Rare Genetic Disorders to Newborn Screening
16 Dec
Summary
- Two rare genetic disorders now included in newborn screening.
- Early detection allows for timely FDA-approved therapies.
- Screening aims to reduce diagnostic delays and improve quality of life.
In a significant move for pediatric healthcare, U.S. Health Secretary Robert F. Kennedy Jr. has announced the addition of two rare genetic disorders, Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD), to the federal newborn screening list. This update to the Recommended Uniform Screening Panel (RUSP) is designed to facilitate early diagnosis and treatment for affected infants.
The inclusion of DMD and MLD on the screening panel empowers healthcare providers to identify these conditions at birth. Early detection ensures that children can access FDA-approved therapies when they are most effective, offering a critical opportunity to slow disease progression and enhance their long-term quality of life. Without early screening, diagnoses are often delayed until significant symptoms manifest.
Currently, most children with DMD or MLD are diagnosed around ages four or five, by which point substantial muscle or neurological decline may have already occurred. The enhanced screening aims to circumvent these lengthy diagnostic delays, reduce the need for multiple specialist visits, and alleviate the considerable financial and emotional burdens frequently associated with rare diseases.
