Researchers at the Feinstein Institute in Manhasset, New York, have published findings supporting the use of single-cell RNA sequencing in the diagnosis of endometriosis. 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 not yet diagnosed, and healthy controls. They identified a subcluster of uterine natural killer (uNK) cells in the menstrual flow that was present in healthy controls but almost absent in endometriosis patients, as well as a reduction in the total number of uNK cells in the menstrual flow of cases.

Researchers are also investigating endometrial stromal cells, which help control tissue proliferation, remodeling and breakdown during the menstrual cycle. The study authors found an abundance of endometrial stromal cells in the dissected endometrium of controls compared to cases, indicating compromised decidualization in patients with endometriosis compared to healthy individuals. They concluded that endometrial tissue characterization in menstrual fluid could be an effective screening tool to identify patients with endometriosis—a significant area of ​​unmet need in the endometriosis space, as patients typically experience a delay in diagnosis, seeing multiple healthcare professionals. before receiving adequate diagnosis and treatment.

Endometriosis is a disease characterized by endometrial-like tissue located outside the uterus, resulting in symptoms such as chronic pelvic pain, severe and frequent cramps during menstruation (dysmenorrhea), genital pain during intercourse (dyspareunia), and , in severe cases, infertility. Symptoms vary from case to case and can be dismissed by both patients and healthcare professionals as a painful period. In addition to the heterogeneity and non-specificity of symptoms, the only way to definitively diagnose endometriosis is through laparoscopy. It is a surgical procedure that is highly invasive and carries risks such as cost, misdiagnosis and anesthesia, and surgical accidents. According to key opinion leaders interviewed by GlobalData, over the past 20 years there has been a shift towards treating patients without a laparoscopy-confirmed diagnosis, particularly in the EU. This leaves an unmet need in the field of endometriosis for effective and less invasive diagnostic techniques. The samples in this study were collected when women collected their menstrual fluids using a menstrual cup or menstrual collection sponge. It is significantly less invasive than laparoscopy.

Single-cell RNA sequencing would also enable faster diagnoses. Currently, endometriosis patients wait an average of five to 10 years from first complaint to final diagnosis, resulting in disease progression and associated complications. Faster diagnosis would allow earlier initiation of treatment and reduce costs for patients who often seek help from several different health professionals before diagnosis.

The study of the molecular and genetic makeup of tissues is an emerging field in medicine. Its promising use in endometriosis detection will provide a fast and non-invasive way for endometriosis patients to receive their diagnoses like never before.

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