Newborn Screening for Sickle Cell Disease in Europe.

Area of Science:

• Public Health
• Genetics
• Pediatrics

Background:

• Newborn screening (NBS) for sickle cell disease (SCD) has a history of nearly 40 years in Europe.
• Despite this history, widespread implementation of national NBS programs for SCD across Europe remains limited.
• The current landscape of SCD NBS in Europe is characterized by significant heterogeneity.

Purpose of the Study:

• To provide an overview of the current status of newborn screening for sickle cell disease in Europe.
• To highlight the pioneering efforts of England and France in establishing national NBS programs for SCD.
• To examine the disparities in NBS implementation across European countries.

Main Methods:

• Review of historical data and current policies regarding NBS for SCD in European countries.
• Comparative analysis of national and regional NBS programs.
• Focus on the implementation strategies and outcomes in England and France.

Main Results:

• Only a minority of European countries have established national NBS programs for SCD.
• France and the UK (England) were the first European countries to introduce national SCD screening.
• Other countries like the Netherlands, Spain, and Malta have national programs, while Belgium and Ireland have regional or pilot programs, often without public funding.
• Italy and Germany are in preparatory phases for national SCD NBS programs.

Conclusions:

• Significant disparities exist in the adoption of NBS for SCD across Europe.
• England and France serve as key examples of successful national SCD NBS implementation.
• Further efforts are needed to promote equitable access to SCD NBS throughout Europe.