Simple finger-prick blood test could help women with debilitating condition

A Canadian company is working to perfect a simple, finger-prick blood test that would revolutionize the diagnosis of endometriosis – a chronic condition characterized by debilitating pelvic pain that affects one in 10 women worldwide.

The average woman will wait five to 12 years from symptom onset until diagnosis, a wait that is all too familiar to 29-year-old Stephanie Ling.

“I describe it like an out-of-body experience,” says Ling. “It’s a level of pain you can’t really physically imagine.”

Ling first suffered from painful, heavy periods at age 12. The pain was all-encompassing, from her chest down to her pelvis, and she experienced numbness that would radiate down her legs. It came along with fatigue and emotional pain that was unlike anything she had experienced before.

In Grade 7, she was started on the birth control pill, but over the years she still required significant pain medication.

“I didn’t know what endometriosis was – or hadn’t heard of it until my early 20s,” she says.

At that time, she was in university and no longer had a regular family doctor. She was seen at multiple walk-in clinics and referred to several specialists, but no one had a good answer for what was going on.

Finally, in 2020, she found a family doctor who wanted to investigate endometriosis and sent her to a gynecologist at Women’s College Hospital. During the next year, things moved much faster. She underwent ultrasounds and an MRI that revealed both a septate uterus and suspected Stage 3 endometriosis.

What is endometriosis?

Endometriosis is a chronic condition in which tissue from the lining of the uterus can be found elsewhere in the body. Most commonly it implants in the pelvis, in and around the uterus and ovaries, but it can be found throughout the body, from the surface of the bowels to the lungs. It is associated with debilitating pelvic pain, painful periods, pain with intercourse and infertility.

The average woman will see five doctors and have at least two emergency department visits to manage her pelvic pain symptoms before receiving a diagnosis.

Historically, laparoscopic surgery has been required to diagnose the condition, a procedure with estimated direct and indirect costs of US$119 billion annually in the United States, as noted in the American Journal of Obstetrics and Gynecology.

A new way forward

Jocelyn Wessels has dedicated her academic career to finding a better solution. During her PhD and postdoctoral fellowships, she studied microRNAs – small segments of genetic material that can be isolated from the blood at different levels in patients with endometriosis. Along with her PhD supervisor, Lauren Foster, Wessels has identified a panel of microRNA markers that they say have proven to be as effective as surgery at diagnosing endometriosis. They have now taken this panel to market, developing the company Afynia and the blood test EndomiR.

“I sometimes call myself an accidental entrepreneur,” Wessels says. “I never really set out to form my own company … but there was this wall between finishing a project and then having somebody pick it up and bring it out into the world commercially.”

Over the years, she had discussed starting a company with Foster, but the timing hadn’t been right. This time when she asked the question the answer was yes.

“We said great, we’re going to form a company, what’s the next step?” The leap into the commercial health-care industry was new territory for both. They connected with The Forge, a business incubator at McMaster University, and participated in several accelerators and mentorship programs to learn the business acumen necessary to bring the science to market.

Afynia launched in November 2021 and joined the rapidly expanding Femtech industry, a global market of women’s health technology estimated to exceed $4.8 trillion by 2025.

Getting the test

The EndomiR blood test is currently available in select Canadian fertility clinics at a cost to patients of $400. It is estimated that 30 to 50 per cent of patients with infertility have endometriosis, making fertility clinics a natural choice to launch the test. The test is initially being marketed as a research-use-only test, part of a standardized pathway that allows Afynia to collect data to support certification and categorization both in the U.S. and Canada.

Next steps will include getting the test into clinical laboratories that will allow any doctor to order the test. The patient will pay at the lab when they are tested. Eventually, the goal is to provide an at-home test in which a patient receives a box in the mail, does a finger-prick and sends the blood sample back.

“One of the opportunities with biomarkers is to help validate patients’ experiences.”

As part of the process, Afynia has partnered with McMaster to undertake a large, nationwide study funded through a grant with the Canadian Institute of Health Research (CIHR). This study, led by principal investigator Mathew Leonardi, aims to analyze the EndomiR blood samples from 1,200 women and compare the results to the findings of endometriosis at laparoscopy.

“One of the opportunities with biomarkers is to help validate patients’ experiences,” says Leonardi. A positive test can help patients access health-care providers and treatment earlier, which may help to slow progression of the disease.

Researchers are also trying to determine if the test can be used to diagnose the stage of endometriosis; the hope is that one day it can be used to monitor response to treatment.

Leonardi is a strong advocate for the use of advanced diagnostic imaging, in particular ultrasound, to help diagnose endometriosis. Currently, blood tests are not able to determine the stage of endometriosis, but he says that a positive blood result can trigger a referral to an advanced ultrasound clinic that can allow the doctor to determine the severity of the endometriosis and which organs are involved.

A positive test can give a patient validity, but a negative test should not be used to say that everything is OK, says Leonardi. There will be a percentage of women who test negative and still have endometriosis. Those women still need to be heard and treated, he says.

What comes next?

While the EndomiR blood test can help expedite the diagnosis of the condition, there is still significant discussion about what to do with the results.

“We want to make sure there is a balance between what we are treating, what the symptoms are and what the goals of the patient are,” says Nicholas Leyland, gynecologist and endometriosis expert at McMaster.

With increased social media attention to endometriosis, many patients are declining to be treated with medication, thinking that surgery is the only option, he says. But both medication and surgery are relevant depending on the patient’s goals and the nature of the disease. This is a complex disorder and there is not always one clear answer for every patient, adds Leyland.

Part of the process will be to continue to expand research on how to best treat patients and provide clear guidelines and education.

In September 2023, the Canadian government announced $1.6 million in funding for The Endometriosis Network Canada and the Society of Obstetricians and Gynecologists of Canada (SOGC) to improve awareness of endometriosis and reduce barriers to care.

This March, the SOGC released an updated guideline on the diagnosis and impact of endometriosis.

For Ling, an early diagnosis would have made a significant difference not just for her, but also for her family.

“For me, it’s more about what it can do for the misconceptions around [treating] endometriosis holistically versus just the diagnosis,” she says.

Starting birth control at such a young age was not something that was easy for her parents to understand and accept. Even now that she has a diagnosis and is awaiting consultation for possible surgery, there are things that are difficult for her family to understand from a perspective of Eastern medicine.

An earlier diagnosis, like with the EndomiR blood test, would have shifted the knowledge both for herself and her loved ones about the best way to approach this disease.

“It’s not just the physical manifestations and the pain, but also the emotional journey that it requires to be kind to your body,” she says.