Newborn screening for severe combined immunodeficiency: clinical and cost-effectiveness approaches

Area of Science:

• Immunology
• Genetics
• Public Health

Background:

• Severe Combined Immunodeficiency (SCID) is a life-threatening condition requiring early diagnosis to prevent infectious complications.
• Newborn screening using TREC and KREC assays identifies T- and B-lymphopenia, aiding early SCID detection.
• While TREC assay screening is proven effective, its clinical benefits and costs vary globally.

Purpose of the Study:

• To evaluate the necessity of pilot projects for establishing SCID screening reference values.
• To determine the cost-effectiveness and expediency of implementing TREC and KREC assays for SCID screening.
• To assess the most effective screening method (TREC or TREC/KREC) and algorithm for SCID detection in Ukraine.

Main Methods:

• Review of existing studies on the clinical and cost-effectiveness of TREC assay for SCID screening.
• Analysis of the potential benefits and economic costs of implementing newborn screening programs.
• Proposal for pilot studies to establish country-specific reference values and optimal screening algorithms.

Main Results:

• Existing studies support the clinical and cost-effectiveness of TREC assay for SCID screening.
• Global variations in clinical benefits and costs necessitate country-specific pilot projects.
• The advancement of hematopoietic stem cell transplantation in Ukraine creates an opportunity for SCID newborn screening.

Conclusions:

• Pilot studies are essential to establish reference TREC and KREC levels for SCID diagnosis and assess cost-effectiveness.
• Determining the optimal screening method (TREC or TREC/KREC) and algorithm is crucial for effective SCID detection.
• Ukraine has the potential to implement newborn screening for SCID, with pilot studies guiding the process.