Genomic Biomarker for Endometriosis Diagnosis Using Saliva: A Breakthrough in Non-Invasive Testing

The discovery of a genomic biomarker for endometriosis based on microribonucleic acid (miRNA) in saliva in 2022 has opened new prospects for early and non-invasive disease diagnosis. The recognition of a sequence consisting of 109 miRNAs became possible through the combination of two technologies: next-generation sequencing (NGS) and artificial intelligence.

Genomic Biomarker for Endometriosis Diagnosis Using Saliva: A Breakthrough in Non-Invasive Testing 1

This marks the first diagnostic test for endometriosis conducted through saliva analysis, providing reliable disease diagnosis within 7 days. The testing procedure involves collecting saliva at home and sending it by mail to a fully automated central laboratory for analysis. The results are delivered to the prescribing physician in approximately 10 days.

Validation and Availability of the Endometriosis Diagnostic Test

The development of the test was carried out through a two-year prospective study (Bendifallah S. et al., 2022). The sensitivity, specificity, and area under the curve for the diagnostic miRNA sequence were 96.7%, 100%, and 98.3%, respectively. To ensure external validation of the method, the authors conducted a multi-center study to verify its diagnostic accuracy. An interim analysis was published on June 9th in “NEJM Evidence” (Bendifallah S. et al., 2023). The study, which includes 1,150 women aged 18-43 years, is being conducted at over 10 different French medical centers.

According to the interim analysis of results, which includes data from 200 women, the test showed a sensitivity of 96.2%, specificity of 95.1%, positive predictive value of 95.1%, negative predictive value of 86.7%, and more. As stated in the company’s press release, the demonstrated effectiveness of combining next-generation sequencing and artificial intelligence in this study indicates the necessary emergence of new non-invasive tools for treatment response prediction, identification of different biological phenotypes of the disease, and improved efficiency of diagnostic sorting.

Currently, the Ziwig Endotest is available in Switzerland, the United Kingdom, Italy, Germany, Sweden, Norway, Denmark, Iceland, Lithuania, Latvia, Estonia, Saudi Arabia, and the United Arab Emirates, according to the company. Soon, it will be available in Hungary, Belgium, Luxembourg, Kuwait, Qatar, and Israel. The test cost is reimbursed in Switzerland. By the end of 2023, Ziwig plans to ensure accessibility of the test for healthcare professionals and patients in France.

What is Endometriosis?

Endometriosis is a chronic and often painful disorder in which tissue similar to the lining of the uterus, called the endometrium, grows outside the uterus. This abnormal growth can occur on the ovaries, fallopian tubes, and other pelvic organs. It can cause symptoms such as severe pelvic pain, painful periods, infertility, and fatigue. Endometriosis affects millions of women worldwide and can have a significant impact on their quality of life. While the exact cause of endometriosis is still unknown, hormonal and immune factors are believed to play a role. Treatment options for endometriosis include pain medication, hormonal therapies, and in some cases, surgery.

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