Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations

Area of Science:

• Genetics
• Immunology
• Genomics

Background:

• Inborn errors of immunity (IEI) are over 450 genetic disorders impacting morbidity and mortality.
• Current newborn screening for severe combined immunodeficiency (SCID) detects only T and/or B cell lymphopenia.
• Many severe IEI cases are missed by current screening methods.

Purpose of the Study:

• To evaluate the potential of a genomic-based newborn screening approach for IEI.
• To discuss the suitability of next-generation sequencing for broad IEI detection.
• To address the ethical, legal, and social issues of genomic newborn screening for IEI.

Main Methods:

• Review of current newborn screening techniques for IEI.
• Discussion of next-generation sequencing suitability for heterogeneous IEI.
• Analysis of ethical, legal, and social implications (ELSI).

Main Results:

• Current TREC/KREC screening identifies only a subset of IEI.
• Genomic approaches, like next-generation sequencing, can screen for hundreds of monogenic diseases at birth.
• Significant ethical, legal, and social challenges must be addressed for genomic screening implementation.

Conclusions:

• Genomic newborn screening offers a broader approach to detect diverse IEI.
• Next-generation sequencing is a viable technology for comprehensive IEI screening.
• Thorough evaluation of ELSI is essential before adopting genomic newborn screening for IEI.