Audit of Clinical Outcomes of an Immunogenomics Clinic in an Adult Tertiary Hospital
Year: 2025
Type: article
Study design: Observational Study
Abstract: Introduction Inborn errors of immunity (IEIs) are a group of rare genetic disorders that impair components of the innate and/or adaptive immune system. While traditionally considered paediatric disorders, it is now increasingly recognised that IEIs can present de novo in adulthood, often with atypical manifestations. Despite this shift, the diagnostic and clinical utility of genetic testing in adults with suspected IEIs remains undercharacterised. This study aims to evaluate the diagnostic yield and clinical implications of immunogenomic testing in adults assessed through the St Vincent’s Hospital immunogenomics clinic over a 23-month period. Method We retrospectively audited the medical records of patients engaged with the immunogenomics clinic from 2023 to 2025 inclusive. The primary outcome was the proportion of patients who received a relevant genetic diagnosis. Secondary outcomes included the clinical impact of the genetic testing result. Results There were 33 patients (mean 37 years; 17 [52%] female) who underwent genetic testing and received a result. 29 (88%) patients attended the clinic for a clinical cause, 3 (9%) due to family history, and 1 (3%) for confirmation of an unaccredited genetic result. Among tested patients, 7 (21%) received a genetic diagnosis explanatory for their phenotype, and 9 (27%) were found to have a pathogenic variant that was in carrier state of a recessive condition or that did not explain their immune phenotype. 9 (27%) patients had a variant of uncertain significance (VUS) finding, with 3 (9%) being in genes of interest. 8 (24%) returned a negative result. The returned genetic result had an impact on the clinical management of 13 (52%) patients. Conclusion The combined immunogenomics clinic demonstrated its effectiveness through the provision of genetic diagnoses, leading to a clinically significant change in management for more than half of tested patients.
Source: Journal of Human Immunity
Authors: Kavin Sivanathan, Renee Smyth, Anna Blair, Hannah Hu, Kathy Wu, Alisa Kane
Institutions: UNSW Sydney, St Vincent's Hospital Sydney
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4416718491