Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis

Genomic testing has transformed the diagnosis and management of inborn errors of immunity (IEIs). Despite its rapid uptake, there remains limited guidance for clinicians on which patients should undergo testing. The Australasian Society of Clinical Immunology and Allergy (ASCIA) has developed evidence-based guidelines to support clinicians in identifying individuals who may benefit from genomic testing for suspected IEI. This guideline paper reviews current literature and reports expert consensus to provide practical recommendations on patient selection, testing modalities, and interpretation of results. It outlines clinical scenarios where genomic testing is most likely to yield actionable insights, including early-onset, severe, or atypical immune presentations and familial patterns suggestive of heritable immune dysfunction. The ASCIA guidelines aim to support genomic testing decision-making and ultimately improve diagnostic accuracy, access to timely interventions, and outcomes for individuals with IEI across Australasia and internationally.