The case for mandatory newborn screening for severe combined immunodeficiency (SCID)

Area of Science:

• Immunology
• Genetics
• Paediatrics

Background:

• Severe Combined Immunodeficiency (SCID) is a life-threatening inherited primary immunodeficiency in infants.
• Delayed diagnosis of SCID leads to severe health consequences and reduced success of hematopoietic stem cell transplant (HSCT).

Purpose of the Study:

• To evaluate the evidence supporting newborn screening (NBS) for SCID.
• To review the effectiveness of the T-cell receptor excision circle (TREC) assay for SCID detection.
• To advocate for the inclusion of SCID in universal NBS programs.

Main Methods:

• Review of current evidence on SCID NBS.
• Analysis of the TREC assay's performance in newborn screening.
• Examination of practical aspects of SCID testing implementation.

Main Results:

• SCID meets established criteria for NBS.
• The TREC assay is successfully implemented in several US states for SCID screening.
• NBS for SCID is under discussion in Europe, but no global mandate exists.

Conclusions:

• Newborn screening for SCID is strongly supported by evidence.
• Implementing SCID NBS can prevent infant mortality and improve transplant outcomes.
• Global adoption of SCID NBS is recommended to address this rare, lethal condition.