An integrated multi-omics approach to expedite diagnosis and management of inborn errors of immunity

Inborn errors of immunity (IEI) include >500 clinical entities and are some of the most diverse and often challenging genetic diseases affecting the population.Improving genetic diagnoses for IEI has stalled due to a lack of a national strategy that integrates skills and technologies of clinical and research specialists in a coordinated manner that extends beyond individual groups for the benefit of patients. To overcome this, we have established the Australian ImmunoGenomics Alliance (AIGA), an integrated patient-focussed national multiomic immunology program that leverages existing infrastructure in NSW, ACT, VIC, QLD and WA to galvanise clinical and research centres with complementary skills to increase the molecular diagnostic rate for patients living with IEI, regardless of geographic location, towards 70% by 2025.