Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management

Abstract

Innovative treatments have allowed the introduction of conditions such as lysosomal storage disorders (LSDs) to newborn screening (NBS). This study explored the challenges healthcare providers faced with the addition of LSDs to NBS and identified adjustments that minimized the burden of such challenges. An online survey was distributed to healthcare providers with experience working with patients with LSDs. The most common anticipated challenges were interpreting NBS results (75%) and having adequate screening protocols (63%). After the addition of LSDs, interpretation of newborn screen results (64%) remained a challenge, but adequate screening protocols were less frequent (25%). Collaboration of care with additional subspecialty providers was the most common change in clinic structure (68%) and individual practice (54%) after the addition of LSDs to NBS. Given the interpretation of results remained a challenge most providers faced, we advocate the implementation of multitier screening protocols is key to improving sensitivity and specificity of NBS for LSDs. This allows for the identification of at-risk infants and provides clarity on expected phenotypes and healthcare needs. These results indicate collaboration between healthcare providers is a key factor in providing optimal care. The findings of this study may benefit clinics that are implementing NBS for LSDs as the adoption of these practices preemptively may reduce the burden of that challenge.