Expanded Neonatal Bloodspot Screening Programmes: An Evaluation Framework to Discuss New Conditions With Stakeholders

Area of Science:

• Public Health
• Genetics
• Healthcare Management

Background:

• Neonatal bloodspot screening (NBS) programs are expanding worldwide to detect rare, serious conditions.
• Rapid advancements in testing and treatment necessitate efficient implementation processes for NBS programs.
• The Netherlands expanded its NBS panel from 17 to 31 conditions in 2015.

Purpose of the Study:

• To develop an evaluation framework for expanding NBS programs.
• To assess test properties, clinical findings, follow-up, and implementation of expanded NBS.
• To involve stakeholders in planning and evaluating the NBS panel.

Main Methods:

• Developed an evaluation framework based on international NBS guidelines.
• Incorporated a stakeholder engagement process for NBS panel planning.
• Utilized the framework for a 'go/no go' decision on national screening and continuous evaluation.

Main Results:

• The developed framework provided insights into test properties, clinical findings, and follow-up.
• Stakeholder input influenced the planning of the expanded NBS panel.
• The framework evolved into a tool for national screening decisions and ongoing evaluation.

Conclusions:

• The implemented evaluation framework and stakeholder process successfully supported NBS expansion in the Netherlands.
• This approach can serve as a valuable example for other countries developing or expanding NBS programs.
• Continuous evaluation frameworks are crucial for adapting NBS programs to evolving scientific and clinical landscapes.