Exploring a new (non-invasive) path to diagnosing endometriosis

In the spirit of Endometriosis Awareness Month, I wanted to explore some of the advancements we're seeing in diagnosis technology. Endometriosis is a disease in women where tissue similar to the lining of the uterus grows outside of the uterus. It can cause, among other things, painful periods, painful intercourse, and infertility. Ten percent of women have endometriosis–about the same percentage of American women who have diabetes.

And yet, I had never heard of the disease before I was in my late 20’s and happened to hear its name mentioned in a conversation.

Since then, it has seemed to me that endometriosis is only whispered in the living rooms of girlfriends, only around childbearing age, after a visit to the gynecologist, only, to be honest, in shame. It is often shrouded in doubt and insecurity–was that pain all my life actually a disease or just normal? In a 2017 study, 42 percent of women with endometriosis surveyed had been told by their physician that their pain was “simply part of being a woman,” and 72 percent had to see two or more doctors before receiving a diagnosis. It takes an average of 7.5 years for women to get diagnosed with endometriosis.

One reason for this long delay in diagnosis is that many women don’t associate their pain with a disease. Another big reason is that the only definitive way to diagnose the disease today is through laparoscopic surgery, which carries not only high costs, but also risks like any invasive procedure. This method of diagnosing the disease has not changed in decades.

Enter Heather Bowerman, a scientist and entrepreneur working to bring the first non-invasive test for endometriosis to market. We sat down with Heather to learn more about her company, DotLab, and what they are up to.

 Heather Bowerman, CEO, DotLab

Heather Bowerman, CEO, DotLab

Rachel Katz: What is new about your technology?

Heather Bowerman: Our test, DotEndo, is the first non-invasive test to detect active endometriosis disease, and we’re looking forward to addressing that huge unmet need.

Here’s how it works–our test detects the quantity of endometriosis-specific biomarkers called microRNAs, which are small non-coding RNAs that function in the post-transcriptional regulation of gene expression. DotLab’s microRNA biomarkers were identified from a screen of thousands of different human microRNA sequences using a comprehensive microarray. From these thousands of microRNA candidates, we identified the subset that showed the greatest magnitude of up- or down-regulation in women with endometriosis. DotEndo is based on a combination of these endometriosis-associated microRNAs, which we have shown in clinical studies to be both highly sensitive (not missing patients with the disease) and highly specific (not incorrectly classifying the disease in people who don’t have it) when compared to laparoscopy.

RK: Given how many women have endometriosis, why hasn’t anyone done this yet?

HB: Countless academic research groups and pharmaceutical companies have tried to find biomarkers for endometriosis, but the challenge has been finding markers with high enough sensitivity and specificity for use as a medical-grade diagnostic test that confirms the active disease. For example, the biomarker CA-125 was proposed for endometriosis but proved to not be accurate enough for applications in real-world settings.

A non-invasive test for endometriosis is considered a holy grail in women’s health, but the heterogeneity of the disease has made it difficult to find a test that’s applicable across patient groups. Also, the pathogenesis of the disease has been poorly understood to date, and patient symptoms can vary, with pain and infertility not always presenting in all patients.

Because of the data generated from our trials to date and the diversity of the patient populations that we have studied, we are confident in the ability of our test to detect endometriosis across different stages of the disease and patient demographic profiles.

RK: In your ideal world, how would the process of identifying and diagnosing endometriosis look?

HB: The lack of a reliable, non-invasive test for endometriosis prolongs suffering for the women who have the disease. During the diagnostic delay of up to 10 years, the disease can progress undetected to advanced stages, and women with the condition continue to experience symptoms like painful periods, bowel and urinary disorders, painful sex, and even infertility.

Our goal is to help women live more productive, healthier, and happier lives.

With our simple physician-ordered test, women can get the information they need at the disease’s earliest stages, at the time of their first physician visit. Earlier detection can mitigate reproductive and other complications arising from untreated or advanced endometriosis, and research has even shown that treating endometriosis can reduce the risk of ovarian cancer.

RK: Are there any other companies or initiatives that you are excited about in the space?

HB: Endometriosis is a top cause of unexplained infertility, so I’m excited about companies like Progyny that offer fertility benefits and education to women, especially as women are having children later in their lives.

Although DotLab hasn’t announced a launch date yet for DotEndo, the company recently announced data from a new prospective study on clinical diagnostic biomarkers for endometriosis, which won a prize at the 2017 American Society of Reproductive Medicine Scientific Congress.