Noémie Elhadad, PhD, associate professor of biomedical informatics at Columbia University, is all too familiar with the frustrating paucity of information about endometriosis. She was diagnosed with the condition at the age of 13 (much earlier than most women who are diagnosed in their 20s or 30s), but the condition, estimated to affect 1 in 10 women, is still a bit of a mystery.
Endometriosis occurs when endometrial cells—which line the inside of the uterus—are found outside of the uterus. These rogue cells form lesions that, just like normal endometrial cells, are stimulated by estrogen and can become especially painful, often in relation to a woman’s menstrual cycle. Little is known about what causes endometriosis, and not all women with endometriosis have pain. “Because pain is so subjective, and nobody really knows what causes the lesions or the pain, endometriosis is not always the first thing that comes to mind for women or their doctors,” says Dr. Elhadad.
Initially, researchers hypothesized that endometriosis occurs when endometrial cells and other menstrual debris flow backward through the fallopian tubes into the pelvic and abdominal cavities. Later, researchers found evidence that some epithelial cells that line many of our organs can develop into endometrial cells, complete with the hormone receptors found in the uterus.
“Not all women with endometriosis are affected in the same way,” says Dr. Elhadad. Many women with endometriosis report debilitating menstrual cramps, extraordinarily heavy menstrual periods, pain during sex, or painful bowel movements or urination. Others have no pain at all. This range and variation in symptoms contribute to diagnosis delays averaging 10 years.
“Currently, there is a disconnect between what doctors recognize as endometriosis symptoms and what patients are actually experiencing day to day,” Dr. Elhadad says. Bridging this gap is critical to further research on endometriosis.”
Dr. Elhadad, a computer scientist with expertise in language processing and data mining, has adopted a “citizen science” approach to fill in gaps between patients’ experiences and current medical thinking. She has launched a research project called Citizen Endo, a series of studies that invites patients, advocacy groups, and the general public to actively participate in the research.
Phendo—an iPhone app— is one of the project’s first efforts to collect data directly from women with endometriosis. Phendo (the name is a combination of the words phenotype, which is the observable characteristics of genetic expression, and endometriosis) was developed with the help of more than 1,000 women through focus groups, interviews, and surveys.
Since its launch in December 2016 (with an Android version anticipated this summer), more than 1,700 women are using Phendo to track symptoms, impacts on daily living, and any treatments they have tried—dimensions that are currently missing from the medical literature. Users also provide information about their medical history.
When enough data is collected, Dr. Elhadad and her colleagues will look for clusters of patient characteristics and develop a temporal picture of endometriosis. They hypothesize that endometriosis is an umbrella term for a heterogeneous group of related conditions.
“This finding would explain why some women have symptoms and others have none and why some endometrial lesions are confined to the pelvic region while others occur throughout the body,” says Dr. Elhadad. “It could also help clinicians take a precision medicine-based approach to treating women with different presentations of the condition.”
Though Phendo is currently designed to collect information for researchers, data from Phendo could be used to develop a new app that helps women manage the condition on a day-to-day basis. Dr. Elhadad also hopes to work with gynecologic surgeons at Columbia to develop a symptom-tracking app that sends information directly to a patient’s physician, which would aid in diagnosis and treatment.
“I am hopeful that the information we collect from our app users will improve our ability to identify and treat women, including those who are at risk for infertility,” Dr. Elhadad says.
Citizen Endo is a Columbia University research project led by the Department of Biomedical Informatics in partnership with patients to better understand endometriosis. Additional members of the project team are Mollie McKillop, MPH, MA, and Sylvia English, MS.
The Endometriosis Foundation of America provided funding for development of the Android Phendo app.
The team also has developed ENDL, a new research-focused app that invites women with or without endometriosis to contribute to our understanding of the relationship between menstruation and quality of life.