A Journey Through PID - Immunogenomics and PI

Wed March 12th 2025

Genomics in Primary Immunodeficiency Diagnosis

Dr. Kuang Hsiao presents an interesting update on genomics and primary immune deficiency. Dr Hsiao explains the complexity of the human genome, highlighting the volume of information stored and how our understanding of the genes involved in immune function has rapidly expanded. Traditional genetic testing involves examining genes one at a time, while genomic testing allows for the simultaneous reading of vast amounts of genetic code to identify potential errors. Genomic testing offers a more comprehensive approach to uncovering the underlying causes of immune deficiencies. Genomics thus improves diagnostic accuracy and clinical management in primary immunodeficiency, with simultaneous reading of the entire six billion letters in the human genome to identify mistakes. This comprehensive analysis results in efficiency and enables the identification of multiple defects. Genomics can thus help tailor clinical management for PID patients.