Researchers at UC San Francisco have identified patterns of genetic activity that can be used to diagnose endometriosis and its severity, a finding that may offer millions of women an alternative to surgery through a simple noninvasive procedure. Their study is published online in the journal Endocrinology.
“Importantly, there are relatively few genes in each ‘classifier’ of disease or of no disease and endometriosis stage that have the potential for non-surgical diagnostic development,” says senior author Linda Giudice, MD, PhD. “The approach also could be used to detect disease recurrence without requiring surgery, and the newly identified gene profiles and pathways resulting from this approach have opened doors for innovative targeted therapy development for endometriosis-related pain and infertility.”
The current approach to the disorder is laparoscopy, a surgical procedure that diagnoses and stages endometriosis occurring on the pelvic lining and organs. But the time lag can be more than a decade from symptom onset to diagnosis, underlining the need for a less invasive, more cost-effective approach.
In this study, Giudice and her colleagues used machine learning, a computer-based technology, to analyze the gene activity of endometrium tissue samples. They analyzed 148 samples—77 from women with endometriosis, 37 from women without endometriosis but with other uterine/pelvic problems such as uterine fibroids, and 34 from women without any uterine conditions as the control group.
With an accuracy of 90 percent to100 percent, a grouping system from the samples was developed. The researchers could distinguish not only between samples from endometriosis patients and the control group but also between the endometriosis patients and those patients with other uterine disorders. They also could denote the difference between endometriosis stages. This technique also could distinguish endometriosis at different points in the menstrual cycle; as hormone levels changed throughout the cycle, the gene expression patterns in the uterine lining of women with endometriosis were distinct from those who did not have the condition.
Based on this gene expression, a simple test eventually could be performed in the doctor’s office to determine endometriosis and stage. Read the study.Read more