An estimated 200 million women suffer from endometriosis worldwide. It’s a disease as common as diabetes, but it baffles the medical community. Doctors don’t know what causes it, or why it causes excruciating pain for some women and is asymptomatic in others.
Yet federal funding for researchers is scarce. In 2018, endometriosis received only $7 million of the National Institutes of Health’s $37.3 billion budget, less than a dollar per woman who suffers in the U.S. In 2019, that number is estimated to drop to $6 million. For context, anthrax research received $53 million in funding in 2018.
Noemie Elhadad, PhD, an associate professor of Biomedical Informatics at Columbia University, specializes in using computer science to draw insights from unconventional data sets such as doctors’ notes scribbled in patient files and patient comments in online forums. She cares about using “the power of the crowds” to leverage large data sets while including the patient’s voice. She’s also an endometriosis patient, and like many others, she has found that her symptoms don’t align with what is currently represented in endometriosis research or even recognized by some medical professionals.
“For the longest time, I had pain in my legs and I always thought, ‘Oh it’s because I’m lazy, I don’t exercise enough.’ I’m a pretty health-literate person, but I never put two and two together and understood that this was in fact very periodic pain, and it was related to my endometriosis,” says Elhadad. “There is a disconnect between what doctors recognize as endometriosis symptoms, and what patients are actually experiencing day-to-day. Bridging this gap is critical to further research on endometriosis.”
This experience, coupled with frustration at the slow progress toward a cure, was the catalyst for Elhadad to launch her own research project, Citizen Endo, in 2016 at Columbia University.
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Meet the #citizenendo team! A photo of the team in action: Noémie Elhadad, PhD, Mollie McKillop, MPH, MA & Sylvia English, MS w/ Sharib Khan – a part of our design team! They are all working to create an app for all of you to track your #endo data! Don't forget to track today! #endometriosis #phendo #endo #womenshealth #citizenscience #women #biomedicalinformatics #columbia #endowarrior #endometriosisawareness
Elhadad knew that with the limited research funding available, she would have to be innovative about how she collected data. She also knew that many endometriosis patients were already tracking their symptoms in menstrual health apps such as Clue, leaving a critical data source untapped by researchers or doctors. So with a $50,000 grant from the Endometriosis Foundation of America (EFA), Elhadad developed the Phendo app, available on both iOS and Android devices.
Once patients consent to the research study via the app, they can document medical history, symptoms, medications, supplements, energy levels, diet, treatments, moods, and pain levels on a daily basis.
As of January 2019, the Phendo app has over 6,000 participants in over 65 countries, making it the largest collection of clinical data about endometriosis in existence.
This rich data set will allow the Citizen Endo team to begin phenotyping endometriosis. A phenotype is a set of observable characteristics. While researchers have already found that there is more than one phenotype of endometriosis by looking at histological samples from surgically excised endometriosis lesions (pathology), they don’t know how many different phenotypes there are in the disease.
“Identifying these phenotypic subgroups will help us answer questions like why some women respond well to some treatments, why some are infertile, and why some see no relief in their symptoms after menopause,” Elhadad said.
While there is an element of unreliability with self-reported data, Elhadad says that the unprecedented high volume of data will allow her team to “build the right statistical models so we can deal with these limitations.”
Another unique aspect of the study is transparency. Research findings are published as Medium blogs, and participants can export their data to medical providers through the app. According to Elhadad, this also serves as their primary participant engagement technique and encourages dedicated reporting.
The Citizen Endo project appealed to the EFA because it supports their focus on awareness and early diagnosis, says Piraye Yurttas Beim, EFA board member and founder and CEO of Celmatix.
“It will help physicians understand that it’s not just about period pain, and that this is a real chronic condition. It is setting back women and is taking them out of the workforce and not allowing them to live rich lives,” said Yurttas Beim.
Citizen Endo is also open to collaborating with other researchers. They are co-recruiting with the genomic ROSE study at the Feinstein Institute in order to look at participants’ “qualitative day-to-day life with what’s going on in the genes expressed in their menstrual cycles,” said Elhadad.
After identifying a large number of participants reporting gastrointestinal symptoms, Citizen Endo will also partner with Ubiome in the future to send participants microbiome testing kits.
Elhadad hopes to apply the Citizen Endo model to other underfunded, underresearched areas of women’s health such as polycystic ovary syndrome. She is in the early stages of launching Even, a data-powered Women’s Health Research Initiative at Columbia University.
“There is clearly an issue across the world of women’s symptoms not being heard,” says Elhadad.
More such projects are sorely needed, says Yurttas Beim, who stressed the importance of investing in women’s health research.
“So what we’re learning now is that reproductive conditions like endometriosis are a canary in the coal mine for what a women will experience later in her life–in a sense, by not spending on the earliest manifestations of heart disease, rheumatoid arthritis, and risk factors for cancer, which is what diseases like endometriosis are. We are putting money into reactive medicine and not proactive or preventative medicine.”