In September 2023, the GGB Pole launched ENDOme onto the market: the first predictive test to investigate genetic predisposition to endometriosis development.
The scientific basis of the test is a study conducted on a cohort of 100 patients with a definite diagnosis of endometriosis, in collaboration with the Obstetrics and Gynecology Department of the Santa Maria della Misericordia Hospital in Perugia, led by Dr. Saverio Arena. The study aimed to evaluate the association of a genetic variant within the NPSR1 gene with the stages of chronic inflammation in patients affected by this debilitating condition.
Today, on Thursday, March 28, on the occasion of World Endometriosis Day, we take stock with Dr. Arena of the progress of research in the prevention, diagnosis, and treatment of this disease.
Dr. Arena, March 28th is a symbolic date to draw attention and raise awareness about this serious condition that complicates the lives of many women. Where do you think awareness about endometriosis stands?
More than 30 years have passed since the first international initiative aimed at raising awareness among the medical-scientific community about this serious chronic condition. The United States was the stage for that first experience. Today, knowledge of the disease has certainly increased, as has the attention from healthcare professionals. However, there are several objective issues that contribute to complicating the situation.
Can you give us an example?
There are many reasons, but the truth is that endometriosis is a relatively young disease: the first research focused on this condition dates back to the second half of the 19th century and then steadily increased throughout the 20th century. However, it’s only recently that we’ve begun to talk about it in a more structured way, as we’ve finally realized the actual number of women affected by it. There is also an additional issue related to the multifactorial nature of the disease. Genetic and environmental factors are involved in the development of these conditions, making diagnosis even more complex.
The data tell us that the condition affects about 10-15% of women of childbearing age, but we also know that this is a conservative estimate. What initiatives can the gynecological community undertake to reduce this diagnostic gap?
Early diagnosis is crucial, including investigating genetic predisposition. Many of the discomforts caused by endometriosis worsen if ignored over time, and on average, a diagnosis takes 3-5 years to reach. In this sense, I am proud to have contributed as Director of the Obstetrics and Gynecology Department of the Santa Maria della Misericordia Hospital in Perugia with you from the GGB Pole to a study that led to the development of ENDOme: a specific predictive genetic test to investigate predisposition to the condition. I’ll give you a small spoiler of which I’m equally proud: there is an ongoing study that will lead to a version 2.0 of ENDOme. Through the use of the Polygenic Risk Score (PRS) technique, it will be possible to investigate a much larger number of variants involved in the risk of developing endometriosis, with a specific focus also dedicated to any implications regarding endometrial cancer.
Predictive genetics certainly represents an additional piece of the puzzle, but it raises another question: “What can I do if I discover I have this genetic predisposition?”
You used the right term: “An additional piece of the puzzle.” It may seem like a concept devoid of practical sense, but it isn’t. In multifactorial chronic diseases like endometriosis, which depend on both genetic and environmental/behavioral factors, having as complete a genetic picture as possible is crucial. Research is ongoing, and a genetic predisposition is not a fate set in stone.
Are there specific and targeted treatments available today?
Progress has been made in terms of pharmacological treatment to prevent the disease from becoming chronic, but in certain cases, surgical intervention may also be necessary.
What prospects do you see in the research landscape for the treatment of disorders related to chronic female pain such as endometriosis?
I believe the value of time is the key to everything, and here we return to the field of predictive genetics. For a condition as complex to investigate and diagnose as endometriosis, increasing women’s awareness is perhaps the only way to push the medical-scientific community to update studies and daily clinical practices. It is necessary to create a virtuous circle that, even today, despite all the efforts made, is difficult to see.
