The investigators have conducted a pilot study in 40 participants (20 with PID and 20 healthy controls) and shown that a proprietary genomic algorithm can predict patients with 93% accuracy using a leave out one validation approach.
The diagnostic test, called PrimDx, generates a risk score for each patient and integrates both whole blood gene expression data and a search for genetic variations known to cause PID. PrimDx also provides information on which immune pathways are dysregulated which can assist clinicians with personalised therapy options.
Results from an independent blinded study involving 100 participants (adults and children) across two hospitals showed the overall accuracy of PrimDx was 90%.
We plan to further develop the technology by evaluating PrimDx in patients (n=60) with lung disease to identify those who have an immunodeficiency. The participating collaborators are the hospitals the Royal Melbourne Hospital and Walter ans Eliza Hall Institute in Melbourne, Victoria
