March is Endometriosis Awareness Month. Endometriosis is estimated to affect approximately 190 million people globally. This means that one in ten women of reproductive age and people assigned female at birth may have this chronic disease , marked by the presence of endometrial-like tissue outside the uterus, which for many is associated with debilitatingly painful symptoms. The World Health Organisation (WHO) recognises the significant impact that endometriosis has on people’s reproductive health, well-being, and quality of life.
On the occasion of Endometriosis Awareness Month, we take a closer look at the EU-funded FEMaLe project, aiming to improve the detection and treatment of endometriosis using machine learning and multi-omics data1.
1. Multi-omics refer to a variety of data across different ‘omes’, such as genomes, microbiomes, allowing for a comprehensive look at many aspects of the biological system of a patient.
1. Can you tell us more about the FEMaLe project?
My name is Ulrik Bak Kirk, and I am a Chief Consultant and PhD Faculty Fellow at the Department of Public Health at Aarhus University in Denmark, where I lead and coordinate the fantastic FEMaLe project.
The project will design a predictive model for the detection and management of people with endometriosis. This will help to facilitate the shared decision-making between the patient and the healthcare provider, enable the delivery of precision medicine, and drive new discoveries in endometriosis treatment, which will improve the quality of life for patients.
FEMaLe builds bridges across disciplines and sectors to translate genetic and epidemiological knowledge into clinical tools that support decision-making in terms of diagnosis and care aimed at both general practice and highly specialiased endometriosis clinics – all via machine learning and artificial intelligence.
The project goes beyond endometriosis, helping to create a deeper understanding of other complex diseases. It will co-create tools with healthcare providers to help stratify patients for more accurate diagnoses and to personalise the selection of medicines.
FEMaLe stresses equity, ethics, and empowerment through education in health literacy and combats the negative effects of endometriosis on patients, particularly the heavy impact on work, relationships, and the sex lives of people suffering from the disease, as well as the challenges faced by healthcare providers in primary and secondary care. Ultimately, it will enable healthcare providers and patients to make better informed decisions regarding (personalised) treatment options and improve patient safety.
2. What are the obstacles that people face with regard to endometriosis?
Representing a high burden for patients, health care systems, and society, endometriosis still remains an insufficiently understood and under-researched condition, mainly due to severe lack of research funding, in line with women’s health in general.
Despite the high prevalence of endometriosis, diagnosis is delayed by 7-9 years, and delivery of effective therapy and care is prolonged. A recent FEMaLe study demonstrated that endometriosis is under-diagnosed with only up to 2% of women getting the right diagnosis in Denmark. A follow-up FEMaLe study further revealed that as far back as 10 years before being diagnosed, those with endometriosis used health care services 19% more than those without the disease .
The estimated annual cost of endometriosis per person affected is €9500, due to loss of productivity and direct health care costs. This is similar to diabetes, Crohn’s disease and rheumatoid arthritis. Also, people with endometriosis are at greater risk of infertility, multisite pain, and other co-morbidities. Persistence and recurrence of symptoms are common regardless of available treatments .
Imagine if endometriosis could be diagnosed and treated sooner to bring this burden down – not only for those affected by endometriosis, but also for society in general.
3. How has your project facilitated access to endometriosis diagnosis and quality treatment?
FEMaLe relies on participatory processes, advanced computer sciences, genetics, state-of-the-art technologies, and patient-shared data to deliver a mobilehealth app for people with endometriosis (Lucy App) as well as a computer vision-based software tool for real-time augmented reality guided surgery of endometriosis (SurgAR).
By collecting patient-reported data on symptoms in a large random sample of people in the reproductive age, FEMaLe will get valid estimates on the extent and geographical distribution of debilitating pelvic pain in this group.
By linking this information with existing registry-based information on diagnoses of endometriosis, genetic bio-markers, use of health care services, other somatic and mental health as well as socio-economic indicators, it will be possible both to get an estimate of the health-related and social consequences of diagnostic delay, but also to develop a phenotype description of people with endometriosis to be used to achieve early diagnosis and treatment of endometriosis with pelvic pain.
4. How important has the support of EU funding been for your project? What are the expected future outcomes of your project?
FEMaLe is one of ten EU-funded projects related to endometriosis, receiving 40% of all-time EU funding in the field.
The societal issues surrounding endometriosis transcend borders. It is of utmost importance that each and every European country recognises the severity of endometriosis, acknowledges the societal problems resulting from this illness and increases the quality of life for patients strategically through national and international policies. Preventive responsive actions will greatly optimise the quality of life of patients and also reduce healthcare costs in the long run, e..g through reduced number of surgeries, hospitalisations and rehabilitation programmes. Based on estimations from health maintenance organisations, FEMaLe may be able to reduce overall cost of endometriosis treatment by at least 20% in the long term.