Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for...

Area of Science:

• Medical Genetics
• Public Health
• Biochemistry

Background:

• Innovative treatments enable the inclusion of lysosomal storage disorders (LSDs) in newborn screening (NBS).
• Healthcare providers face challenges integrating LSDs into existing NBS programs.
• Understanding these challenges is crucial for optimizing NBS protocols.

Purpose of the Study:

• To explore challenges faced by healthcare providers with the addition of LSDs to NBS.
• To identify adjustments that minimize the burden of these challenges.
• To provide recommendations for improving NBS for LSDs.

Main Methods:

• An online survey was distributed to healthcare providers with experience in managing patients with LSDs.
• The survey assessed anticipated and experienced challenges related to LSDs in NBS.
• Data analysis focused on identifying common difficulties and successful adaptations.

Main Results:

• Interpreting NBS results for LSDs remained a significant challenge (64%) after implementation.
• Adequate screening protocols became less of a challenge (25%) post-implementation.
• Collaboration with subspecialty providers was a common structural (68%) and practice (54%) adjustment.

Conclusions:

• Multitier screening protocols are advocated to enhance the sensitivity and specificity of NBS for LSDs.
• Improved protocols facilitate the identification of at-risk infants and clarify healthcare needs.
• Collaboration among healthcare providers is essential for optimal care delivery in NBS for LSDs.