This book presents an overview of the diagnostic performance of non- or semi-invasive tests for endometriosis in peripheral blood, endometrium, saliva, peritoneal fluid and urine. The value of existing and emerging systems biology technologies for biomarker development is addressed in several chapters on genetics, microarrays, proteomics and metabolomics. Although tests with high sensitivity and acceptable specificity have been developed, sometimes validated in independent populations and seem promising, more research is needed to translate these data into clinical benefit for patients and coordinate efforts internationally to standarize analysis, reports and operating procedures. The gold standard to diagnose endometriosis is currently through laparoscopic inspection with histological confirmation, a surgical procedure with rare but significant potential risks for the patients. A non-invasive test for endometriosis would be critical for the early detection of endometriosis of symptomatic women with pelvic pain and/or subfertility with normal ultrasound. This would include nearly all cases of minimal-mild endometriosis, some cases of moderate-severe endometriosis without a clearly visible ovarian endometrioma and cases with pelvic adhesions and/or other pelvic pathology, who might benefit from surgery to improve pelvic pain and/or subfertility. Such a test would also be useful in symptomatic women with ultrasound imaging suspicious for endometriosis, since it may be difficult to differentiate an ovarian endometrioma from other ovarian cysts and since the quality of ultrasound imaging is highly variable worldwide.
Thomas M. D'Hooghe is Professor of Reproductive Medicine in the Deparment of Development and Regeneration of the Biomedical Sciences Group at KU Leuven (University of Leuven), Belgium. Dr. D'Hooghe is also Professor Adjunct, Department of Obstetrics, Gynecology and Reproductive Medicine, Yale University Medical School, New Haven, Connecticut, USA, and Editor-in-Chief of Gynecologic and Obstetric Investigation,Basel, since 2002. Since October 2015, Professor D'Hooghe is the Vice-President and Head of Global Medical Affairs Fertility in the Department of Research and Development at Merck KGaA, Darmstadt, Germany.
Biomarker development: general concepts and state of the art in medicine.- Biomarker development in chronic inflammatory diseases.- Biomarker development in cancer.- Biomarker development in ovarian cancer.- Biomarker development in endometrial cancer.- Biomarker development in breast cancer.- Biomarker development in reproductive medicine.- Industry perspective on biomarker development in medicine.- Biomarker development in endometriosis.- Health economic impact of endometriosis.- Patient perspective on biomarker development for endometriosis.- Genetic biomarkers for endometriosis.- Epidemiological and clinical risk factors for endometriosis.- Peripheral blood biomarkers for endometriosis.- Endometrial biomarkers for endometriosis.- Biomarkers for endometriosis in saliva, urine and peritoneal fluid.- mRNA and miRNA biomarkers for endometriosis.- Proteomic biomarkers for endometriosis.- Multiprotein arrays and endometriosis.- Metabolomics and endometriosis.- Harmonization of clinical and laboratory data to improve biomarker discovery in endometriosis.- Endometriomics and biomarker development in endometriosis.