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1The National MPS Society, Inc., 1007 Slater Rd. Suite 220, Durham, North Carolina, 27703, USA.
Insights
The National MPS Society shares insights on improving newborn screening (NBS) for rare diseases like mucopolysaccharidosis. Their experience informs best practices for nominating conditions to the Recommended Uniform Screening Panel (RUSP).
Area of Science:
- Rare disease advocacy
- Newborn screening policy
- Genetic disorder research
Background:
- The National MPS Society advocates for mucopolysaccharidosis and mucolipidosis communities.
- The Recommended Uniform Screening Panel (RUSP) mandates newborn screening (NBS) conditions.
- The RUSP has expanded from 29 to 35 core conditions since its 2010 implementation.
Purpose of the Study:
- To reflect on the process of successfully nominating rare diseases to the RUSP.
- To provide observations on the RUSP nomination process based on the Society's experience.
- To highlight best practices for current and future RUSP nominations.
Main Methods:
- Reviewing the Society's history of nominating conditions to the RUSP.
- Analyzing the established nomination process for RUSP inclusion.
- Identifying areas for improvement in NBS, RUSP, and ACHDNC infrastructure.
Main Results:
- The Society has successfully nominated two conditions to the RUSP.
- The nomination process has evolved over time.
- The Society's experience offers valuable insights into RUSP procedures.
Conclusions:
- The Society is well-positioned to offer recommendations for optimizing the RUSP nomination process.
- Best practices can enhance the efficiency and effectiveness of adding new conditions to NBS.
- Improvements to the NBS, RUSP, and ACHDNC infrastructure are crucial for rare disease detection.
Abstract:
The National MPS Society, Inc., founded in 1974, is a rare disease advocacy non-profit with a tripartite mission addressing the needs of the mucopolysaccharidosis and mucolipidosis communities through advocacy, research, and family and patient support. The Recommended Uniform Screening Panel (RUSP) of conditions for newborn screening (NBS), legislatively mandated in 2008, was implemented in 2010 by the Secretary of Health and Human Services (HSS), through the adoption of 29 core conditions. Since its inception the RUSP has grown to 35 core conditions. Each addition followed a defined nomination process that has itself undergone further definition over time. Since the adoption of the RUSP, the Society has nominated two conditions that have been approved by the Advisory Committee on Heritable Disorders in Children and Newborns (ACHDNC) and forwarded to the Secretary of HSS for inclusion on the RUSP. This history places the Society in a position to reflect on the process of successfully nominating conditions. Additionally, the Society is well placed by this experience to provide observations on the RUSP process. We will highlight best practices for pending and future nominations and reflect on potential improvements to the process and infrastructure of NBS, the RUSP, and the ACHDNC.
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