Researchers from the Feinstein Institute in Manhasset, New York, have published findings supporting the use of single-cell RNA sequencing in endometriosis diagnosis. Shih and colleagues (2022) performed single-cell RNA sequencing to examine the endometrial tissue of patients with confirmed endometriosis, patients who are experiencing endometriosis-like symptoms but have not yet been diagnosed, and healthy controls. They identified a subcluster of uterine natural killer (uNK) cells in the menstrual effluent that is 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.

The researchers also examined endometrial stromal cells, which help to control tissue proliferation, remodeling, and breakdown during the menstrual cycle. The study authors found an abundance of endometrial stromal cells in the shed endometrium of controls compared to cases, indicating compromised decidualization in endometriosis patients compared to healthy individuals. They concluded that characterization of endometrial tissues in menstrual effluent could be an effective screening tool to identify endometriosis patients—a significant area of unmet need in the endometriosis space, as patients usually experience diagnosis delays, seeing several healthcare professionals before receiving adequate diagnosis and treatment.

Endometriosis is a disease characterized by endometrial-like tissue found outside of the uterus, resulting in symptoms such as chronic pelvic pain, severe and frequent cramps during menstruation (dysmenorrhea), genital pain during sexual intercourse (dyspareunia), and, in severe cases, infertility. Symptoms vary case to case and can be dismissed by patients and healthcare professionals alike as a painful period. In addition to heterogeneity and non-specificity of symptoms, the only way to definitively diagnose endometriosis is via a laparoscopy. This is a surgical procedure that is highly invasive and carries risks such as cost, misdiagnosis, and anesthetic and surgical mishaps. According to GlobalData’s interviewed key opinion leaders, there has been a shift in the last 20 years towards treating patients without a laparoscopy-confirmed diagnosis, especially in the EU. This leaves a gaping unmet need in the endometriosis field for effective and less invasive diagnostic techniques. Samples in this study were taken as women collected their menstrual effluent via a menstrual cup or a menstrual collection sponge. This is substantially less invasive than a laparoscopy.

Single-cell RNA sequencing would also allow for faster diagnoses. Currently, endometriosis patients wait an average of five to 10 years from first complaint to final diagnosis, leading to disease progression and associated complications. A faster diagnosis would allow for earlier commencement of treatment and would cut expenses for patients, who often seek help from several different healthcare professionals before diagnosis.

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.

Cell & Gene Therapy coverage on Pharmaceutical Technology is supported by Cytiva.

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