New Non-Invasive Test Offers Better Solution for Endometriosis

Endometriosis is a common gynecologic problem, which affects 6-15% of reproductive-age women. There are 176 million women suffering from this disease worldwide at an annual cost of nearly $110 billion dollars. It often presents with painful menstruation, pelvic pain, and infertility, leading to deterioration in the quality of life and high psychological morbidity. Sadly, the average diagnosis delay is 10 years since the occurrence of the first symptom. Despite the high healthcare burden, endometriosis is often diagnosed late – up to an average of 10 years from the onset of the first symptoms.

The reason why there is a long diagnosis delay can be categorized into patient and physician levels. It is hard to differentiate secondary dysmenorrhea (menstrual cramping or pain) from primary forms, and women often conceal the severity of pain to avoid being stigmatized as being unable to bear it. 

Another clinical challenge is the lack of good non-invasive methods for diagnosing the disease. Most women with endometriosis have normal transvaginal ultrasonography (TVUS) results because it is hard to detect small lesions of Stage I endometriosis, the most common stage. Some physicians use serum CA-125 measurement as a biomarker for detecting endometriosis. However, however, CA-125 is limited for endometriosis according to the American College of Obstetricians and Gynecologists. Laparoscopic surgery is the gold standard diagnosis method, but patients need psychological preparation before the surgery and there is a risk of complications. “Therefore, non-invasive and high accuracy screening methods are highly in demand,” said Kevin Kuo, Chief Executive of Gene Health. And that is the reason why Dr. Vivian Yang, Taipei Medical University, has devoted herself to finding a potential biomarker since 2002.

Dr. Yang’s efforts resulted in the discovery of an isoform of α-1 antitrypsin (isoAAT) in serum, which can be a biomarker for endometriosis. α -1 antitrypsin is a serine protease inhibitor-related to TNF-α signaling.  Rises in isoAAT levels have been observed not just in patients with severe endometriosis, but also in mild and moderate cases, indicating that it may be a good candidate for early detection. Dr. Yang’s lab has also detected decreases in isoAAT levels after GnRH treatment. 

From Lab Project to Commercialized Product

Kevin Kuo, director of Gene Health, a Taiwanese genetic test company focusing on prenatal tests learned about Dr. Yang’s research at a national conference in Taiwan for the biotechnology and medicine industry in 2017. Seeing this as a great opportunity in clinical application, the two decided to develop a commercial endometriosis blood test, with Kuo contributing his experience in commercialization. Their project began in 2018. 

To turn the research into a functioning product, Kuo assembled a product development team with Sophia Liu, a specialist in Gene Health, as the main organizer of the project. The project quickly breezed through product validation, drafting of guidelines for delivery, and training programs. Under close collaboration with clinicians, the team managed to conclude project commercialization and introduce the product into the market within half a year. 

With the help of the test, service providers can now detect stage I and stage II endometriosis, a feat that was nearly impossible when using TVUS and CA-125. Early diagnosis and treatment can largely decrease the recurrence rate after treatment, and prevent infertility outcomes due to severe endometriosis. For women already suffering from infertility due to endometriosis, medical treatment before ART can improve the pregnancy rate up to two-fold.

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GeneOnline