In this JIMD Shortcast, Allyson Terrell and Katie Sapp explore the real-world challenges of newborn screening for lysosomal storage disorders, based on a survey of healthcare professionals working at the front line of implementation. The study highlights the limitations of single-tier screening, the value of multi-tier testing, and the growing importance of multidisciplinary collaboration to improve diagnostic clarity and patient outcomes.

Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management
A. Terrell, et al
https://doi.org/10.1002/jmd2.70027

JIMD Podcasts

Journal of Inherited Metabolic Disease

Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders

NOV 25, 20256 MIN
JIMD Podcasts

Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders

NOV 25, 20256 MIN

Description

In this JIMD Shortcast, Allyson Terrell and Katie Sapp explore the real-world challenges of newborn screening for lysosomal storage disorders, based on a survey of healthcare professionals working at the front line of implementation. The study highlights the limitations of single-tier screening, the value of multi-tier testing, and the growing importance of multidisciplinary collaboration to improve diagnostic clarity and patient outcomes. Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management A. Terrell, et al https://doi.org/10.1002/jmd2.70027