What happens when newborn screening identifies a genetic variant of uncertain significance? Troy Lund and Stephan Kemp discuss the Grey Zone Project and its risk-based framework for interpreting ABCD1 variants in ALD with Dr. James Nurse of the Journal of Inherited Metabolic Diseases — and the broader hurdles of implementing genetic newborn screening. [Click to read more ▼]
Newborn screening for ALD identifies boys with pathogenic ABCD1 variants early, enabling timely intervention. However, screening also reveals variants of uncertain significance (VUS) — genetic findings where it is unclear whether the variant will lead to disease. This creates significant diagnostic uncertainty for families and clinicians alike. In this podcast episode, Troy Lund and Stephan Kemp discuss how the Grey Zone Project addresses this challenge through a risk-based framework, and what it means in practice for families and clinicians navigating an inconclusive screening result.