New Blood Test Could Shorten Endometriosis Diagnosis Delays

Diagnosing endometriosis, a condition affecting millions of women globally, has long relied on invasive procedures and prolonged delays.

Now, researchers from the University of Melbourne and the Royal Women’s Hospital, in collaboration with Proteomics International Laboratories, have developed a blood test that could offer a novel tool for early-stage detection. The results were published in the journal Human Reproduction.

The impact of a delayed diagnosis

Endometriosis is a chronic condition where tissue similar to the uterine lining grows outside the uterus, often affecting the ovaries, fallopian tubes and pelvic lining. This misplaced tissue causes severe inflammation, scarring and adhesions, leading to debilitating pain, heavy menstrual bleeding and infertility. Despite affecting ~1 in 10 women, endometriosis remains significantly underdiagnosed and misunderstood. For millions, the journey to diagnosis takes an average of seven years, during which symptoms are frequently dismissed.

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This delay stems largely from the invasive nature of the current diagnostic gold standard: laparoscopy. While effective, this surgical procedure requires general anesthesia and carries risks, making it inaccessible for many women. Non-invasive alternatives, such as the CA-125 blood test, provide limited accuracy. CA-125 levels can be elevated by other conditions like ovarian cancer or pelvic inflammatory disease, undermining its reliability. Imaging techniques like ultrasound or MRI are helpful for detecting advanced lesions but often miss smaller implants or adhesions, particularly in early-stage disease.

The consequences of these diagnostic delays result in women enduring chronic pain, significant emotional and physical distress and compromised fertility. Endometriosis also causes a staggering economic burden, with annual costs exceeding $7.4 billion in Australia alone. Marginalized populations, including rural or lower-income women, often face even greater barriers to timely care.

These challenges highlight the urgent need for a non-invasive, accurate and accessible diagnostic tool to shorten diagnostic delays and improve outcomes for women worldwide.

Developing a non-invasive tool for endometriosis

The team analyzed plasma samples from 805 participants across 2 independent clinical populations. The participants included 464 women diagnosed with endometriosis, 132 symptomatic controls without the condition and 153 healthy individuals. They first conducted a discovery phase to identify potential biomarkers and then validated their findings using targeted mass spectrometry. Advanced statistical models were developed to ensure the reliability and clinical applicability of the biomarkers.

A panel of 10 protein biomarkers were identified across the 3 models used. Among these models, model 3 achieved near-perfect accuracy in distinguishing severe cases of endometriosis from symptomatic controls. This model also demonstrated excellent diagnostic performance across earlier disease stages – highlighting its potential for early screening and preventing the need for invasive surgery.

The potential to diagnose endometriosis early

“This innovation seeks to address a critical need for a non-invasive, accurate diagnostic tool for early stages of endometriosis, that could help reduce delays in diagnosis and the associated health impacts,” said corresponding author Dr. Peter Rogers, the deputy director of the Women's Gynaecology Research Centre, research director at the Royal Women’s Hospital and the Professor of Women’s Health Research in the department of obstetrics and gynecology at the University of Melbourne

“A blood test also has potential application in the context of fertility where endometriosis is associated with an increased risk of having difficulty becoming pregnant.”
Dr. Peter Rogers.

By identifying endometriosis earlier, patients can receive prompt interventions, reducing the physical and emotional toll of untreated symptoms. The test also empowers general practitioners (GPs) to play a more prominent role in diagnosing and managing early-stage endometriosis, bridging the gap between patients and specialist care.

“This shifts that diagnostic timeline back to general practice, which is a first for endometriosis”, said Dr. Magdalena Simonis, an associate professor at the University of Melbourne and GP with a special interest in women’s health.

“A blood test is more cost-effective for patients and the health system than the current use of ultrasounds, invasive laparoscopies, MRI’s and biopsies to diagnose endometriosis, and work is underway to fortify the robustness and reliability of the new test for clinical use,” said Dr. Richard Lipscombe, Proteomics International’s managing director.

Ensuring diagnostic tests are reliable

The team is now focused on refining its diagnostic algorithms to ensure accuracy and reliability across diverse clinical settings. Plans are underway to integrate it into healthcare systems, with a target launch in Australia by Q2 2025. Efforts to create a cloud-based reporting platform and collaborate with international institutions for further validation are also in progress, paving the way for global deployment.

Despite its potential, experts caution that the test is not a universal solution:

“The findings were very promising, but GPs will still need to be aware that this test, if it becomes integrated into general practice, will not be a blanket solution. We must always keep a focus on the symptoms that a woman presents to us with, so that we don't become blindsided by particular results, especially when we're dealing with new testing,” said Simonis.

“Science is one of those really tricky areas where until you actually put something into practice and test a cohort ethically, you will not be able to make that evaluation with confidence that it can be generalized to the rest of the population, because we do know that there are also ethnic and racial differences in the prevalence of some diseases such as polycystic ovary syndrome,” she added.

Reference: Schoeman EM, Bringans S, Peters K, et al. Identification of plasma protein biomarkers for endometriosis and the development of statistical models for disease diagnosis. Hum Reprod. 2024:deae278. doi: 10.1093/humrep/deae278

This article is a rework of a press release issued by Proteomics International Laboratories Ltd. Material has been edited for length and content.