Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency

Area of Science:

• Biomedical Science
• Genetics
• Immunology

Background:

• Severe combined immunodeficiency (SCID) is a group of rare primary immune deficiencies.
• SCID is being considered for population-based newborn screening (NBS).

Purpose of the Study:

• To describe the rationale for a pilot SCID NBS program.
• To outline a strategy for successful implementation of SCID NBS.
• To report preliminary findings from a statewide pilot SCID NBS program.

Main Methods:

• Developed and validated a multiplex T cell receptor excision circle (TREC) assay.
• TREC assay detects a marker of SCID in newborn dried blood spots.
• Implemented a statewide pilot SCID NBS program in Massachusetts.

Main Results:

• The multiplex TREC assay uses a single punch for TREC analyte and internal control.
• Preliminary experience from the first year of statewide screening is reported.
• SCID NBS can be implemented on a population basis with acceptable false positive rates.

Conclusions:

• The Massachusetts pilot program demonstrates the feasibility of population-based SCID NBS.
• The implemented screening and follow-up algorithms were effective.