Recently published findings from researchers at the Feinstein Institute in Manhasset, New York, supporting the use of single-cell RNA sequencing in diagnosing endometriosis could help provide faster diagnoses and earlier commencement of treatment, thereby cutting expenses for patients who often seek help from several different healthcare professionals before official diagnosis, says GlobalData, a leading data and analytics company.

Shih and colleagues (2022) performed single-cell RNA sequencing to examine the endometrial tissue of patients with confirmed endometriosis; patients experiencing endometriosis-like symptoms but have not yet been diagnosed; and healthy controls.

Sarah Bundra, Pharmaceutical Analyst at GlobalData, comments: “This method of screening potential endometriosis patients would offer a way to non-invasively diagnose endometriosis. This is an area of significant unmet need in the endometriosis field, as the only way to currently diagnose the indication is via a surgical procedure called a laparoscopy. While there has been a shift in the past 20 years towards treating patients based on suspected, rather than laparoscopy-confirmed, endometriosis, the need for an effective and non-invasive diagnostic procedure remains.”

The researchers identified a subcluster of uterine natural killer (uNK) cells in the menstrual effluent (ME) that was present in healthy controls but nearly absent in the endometriosis patients, as well as a reduction of total uNK cells in the menstrual effluent of cases. This discrepancy in uNK cells in case versus control ME indicates compromised decidualization in endometriosis patients compared to healthy individuals. The researchers concluded that characterization of endometrial tissues in ME could be an effective screening tool to identify endometriosis patients. Samples in the study were taken as women collected their ME in a menstrual cup or menstrual collection sponge, a substantially less invasive technique than a surgical laparoscopy.

Bundra concludes: “Examining the molecular and genetic makeup of tissue represents an emerging area in medicine. Its promising use in detecting endometriosis would provide a fast and non-invasive way for endometriosis patients to receive their diagnoses like never before.”