Crowd sourcing comes to endometriosis

Diagnosis & Therapy

Article 4 of 10: Crowd sourcing comes
to endometriosis

Crowd sourcing comes to endometriosis

A novel research app aims to offer patients and doctors a more nuanced understanding of the disease.


The idea of women using mobile applications to track their reproductive health is nothing new. But, a research app that is specific to women with endometriosis, that captures data on a wide constellation of symptoms in real time, may prove revolutionary for doctors and patients alike.

The app, Phendo, is designed to promote improved phenotyping and earlier diagnosis of a disease that, while affecting about 10% of all reproductive-aged women, remains poorly understood and under-recognized, with average time to diagnosis delayed by about a decade.


Perspectives on Endometriosis Management

“We don’t have enough information about the disease, and we don’t have enough observations of the disease from patients,” said Noémie Elhadad, PhD, an associate professor of biomedical informatics at Columbia University in New York City. “The idea was to crowd source patients to tell us what their experience of the disease is, so we can collect a data set that helps us study the disease from their standpoint.”

The Phendo app

Dr. Elhadad and her colleagues launched a research initiative called Citizen Endo, which, through pilot studies and focus groups, led to the creation of its signature app.

Phendo is available for free and guards patient data for research use only. The Phendo app is currently available for iOS and an Android version is in development. Since its launch in December 2016, it has been used by about 2,000 endometriosis patients and continues to attract new users. To participate, patients must be 13 or older (those under 18 must receive parent consent, which can be done through the app), with a clinical diagnosis of endometriosis or suspected endometriosis.

The app collects data on current medications and supplements, exercise, diet, pain, and other symptoms ranging from gastrointestinal and urinary symptoms to allergic episodes. Users can also answer a detailed questionnaire that integrates a validated phenotyping tool already widely deployed in endometriosis research – WERF-ePHect, developed by the World Endometriosis Research Foundation.

Users report daily – more than once a day, if they wish – by responding to a quick touch menu of questions about pain, symptoms, moods, periods, management strategies, and activity. This allows for a day-by-day mapping of each patient’s symptoms across the menstrual cycle and a moment-to-moment snapshot of what symptoms co-occur and when.

“Our hypothesis is that there are clusters of endometriosis manifestations that can be found that can separate the population into different groups, and that these clusters are likely temporal in nature,” Dr. Elhadad said.

Capturing phenotypes

Capturing clusters of symptoms as they occur will help the team parse out some of the subtler endometriosis phenotypes that may be missed in clinical settings. Phendo collects information on gastrointestinal and urinary symptoms and on other symptoms not typically associated with endometriosis, such as limb swelling.

“Researchers are beginning to have a better understanding of endometriosis as a systemic disease. We know that it has an inflammatory component and that there are comorbidities,” Dr. Elhadad said. “There are also a lot of symptoms that are not typical for doctors to think of, like swelling of the belly, leg pain, and GI issues.”

Phendo is also designed to help patients recognize any co-occurring symptom patterns in a way that improves collaboration with their clinicians. “If I’m a patient, I may know that I have pain during my period, but I may not connect that with leg pain and pain in my shoulder, so I’m not going to mention those to my doctor,” Dr. Elhadad said. “We’re hoping that patients will get a fuller sense of the universe of signs of endometriosis by using the app.”

The researchers, meanwhile, will mine the data collected via Phendo for associations – discriminative sets of symptoms that might be confirmed through further studies using, for example, electronic health records.

The group recently received grant support for Phendo from the Endometriosis Foundation of America and is partnering with an ongoing research effort, the ROSE (Research OutSmarts Endometriosis) study, led by Peter Gregersen, MD, of Hofstra Northwell School of Medicine in Hempsted, N.Y., which is focusing on the genetics and biology of endometriosis.

Engagement and privacy

One of the inherent challenges of any health-related app is sustaining user engagement. It is common for users to download an app, use it for a few days, and then lose interest. However, Dr. Elhadad said that the Phendo users have been surprisingly persistent and engaged even beyond the limits of the app’s interface.

“We get a lot of emails and questions from our users,” she said.

So far, about 500 Phendo users have supplied at least a month’s worth of daily data, a valuable resource for the team. In April 2017, the researchers launched a parallel mobile app, ENDL, under the Citizen Endo project. It aims to collect daily and monthly information from women (not specifically endometriosis patients) about how their menstrual cycles affect their lives and functioning. The goal, in part, is to provide something of a baseline or a comparison cohort to the Phendo users.

Both ENDL and Phendo capture sensitive patient information, including information on sexual health. ENDL even integrates passive tracking, which allows researchers to see whether a user was able to leave home on a given day and connect that to information about her menstrual cycle. In designing these apps and gaining patient cooperation, Dr. Elhadad said, the researchers had to make clear that the data would never be used for nonresearch purposes or outside the stated scope of the project.

“All of our data is stored on HIPAA-certified computers, and we treat it as if it were a patient record,” Dr. Elhadad said. This distinguishes the Citizen Endo apps from many commercially-produced apps that track reproductive health, often with an aim to sell the data. “We learned in our focus group that women were concerned about sharing their information at such an intimate level, and we found that the difference in trust between researcher and commercial entity was very big.”

Dr. Elhadad said that she hopes that Phendo users will retain that trust and continue engaging with the app. “We hope to get three months’ worth of data from 2,000 women,” she said. “If some were to stick around longer and tell us even more, that would be amazing.”

Dr. Elhadad reported having no relevant financial disclosures.

Jennie Smith is a contributing writer for Ob.Gyn. News.

click me