Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

Area of Science:

• Public Health
• Genetics
• Pediatrics

Background:

• Sickle Cell Disease (SCD) poses a growing global health challenge, particularly impacting European healthcare systems.
• Newborn screening (NBS) for SCD is crucial for early intervention, significantly reducing childhood mortality.
• Disparities in NBS policies and methods across European countries may affect care quality and patient outcomes.

Purpose of the Study:

• To assess the current state of NBS for SCD in Europe.
• To establish consensus-based recommendations for NBS indications and methodologies in Europe.
• To support the creation of new NBS programs and the enhancement of existing ones.

Main Methods:

• A two-day Pan-European consensus conference convened over 50 SCD experts from 13 European countries in Berlin, April 2017.
• Discussions focused on appraising the current status of NBS for SCD.
• Consensus statements were developed regarding indications and methodology for NBS for SCD.

Main Results:

• The conference provided a comprehensive overview of NBS for SCD across Europe.
• Key areas for consensus on indications and methodology were identified.
• Recommendations were formulated to standardize and improve NBS programs.

Conclusions:

• Harmonizing NBS for SCD in Europe is essential for equitable and effective care.
• The consensus recommendations offer a framework for developing and refining NBS programs.
• Standardized NBS for SCD can lead to better health outcomes for affected children across Europe.