Endometriosis, a chronic disease that is often overlooked and misdiagnosed, impacts one in ten women. This condition arises when cells akin to those found in the uterus start to develop in other areas of the body, typically around the pelvic region. The most reliable method for diagnosing endometriosis at present is through direct visualisation by histological analysis, which necessitates an invasive procedure known as laparoscopy or laparotomy. Globally, it's estimated that endometriosis affects 190 million women and girls. In Australia, the economic burden of endometriosis is significant, with an annual cost of between $7.4 and $9.7 billion annually due to direct medical costs and loss of productivity.
Proteomics International utilised a traditional proteomic validation workflow to establish unique biomarkers of endometriosis. The biomarkers were originally curated from previous triplicate iTRAQ 2D-LCMS experiments followed by targeted mass spectrometry and correlation analysis using a large cohort (n=901). The targeted assay was further optimised to improve the proteomic workflow and provide greater sensitivity and reproducibility for the 97 peptides in the overall assay. The optimised assay was run on an independent cohort (n=292) containing healthy volunteers, symptomatic controls without endometriosis and patients diagnosed with endometriosis. A bivariate analysis found 20 proteins with significant correlations (p<0.05) for disease status. The improvements to the proteomic workflow and optimisation of the targeted assay have produced proteins with robust evidence for inclusion as biomarkers in a diagnostic test for endometriosis.