Project Lead: Gregor Goetz
Authors: Beyzanur Yoldas, Aline Dragosits, Gregor Goetz
Publication: March 2026
Language: English (with German summary)
Carrier screening is a screening strategy designed to identify asymptomatic individuals who carry pathogenic variants for autosomal recessive and X-linked hereditary conditions. This assessment evaluated the clinical effectiveness, safety, economic, organisational, and ethical aspects of different carrier screening strategies: universal versus risk-based approaches and single-disease panels versus expanded carrier screening (ECS). The target population comprised reproductive-age individuals and pregnant women.