Diagnostic biomarkers for endometriosis

Official statement by
G David Adamson MD, President, World Endometriosis Research Foundation (WERF)
Neil P Johnson MD, President, World Endometriosis Society (WES)

The development of “low-invasive tests/biomarkers” for endometriosis remains high on the list of priorities of what is needed to improve the diagnosis, management, and prognosis (progression/regression) of treated endometriosis.

To date, however, there are no data that definitively support any claims of a validated diagnostic test – or any combinations of tests – to accurately diagnose endometriosis or provide monitoring of disease progression/regression [1-6].

In other words: there are presently no endometriosis diagnostic or treatment biomarkers that have been demonstrated to have the validity and reliability necessary to be used in routine clinical diagnosis or care.

Therefore, the status quo remains that suspected endometriosis can be diagnosed clinically based on symptoms, and definitively based on surgical findings and histology only [6,7].

WES and WERF support the research endeavour to validate potential low invasive diagnostic tests. Both organisations remain firmly of the view that women should only be offered an innovative diagnostic test that is supported by published data with both internal and external validation. This is necessary to avoid exploitation of the genuine desire of women to have a low invasive diagnostic test available.

Why is a non-invasive diagnostic biomarker for endometriosis important?

If an accurate non-surgical diagnosis of endometriosis is available, women will likely opt for surgery only in the context of its use as a treatment. A non-invasive diagnostic tool will also reduce the delay in women receiving appropriate treatment.

Furthermore, accurate biomarkers in endometriosis may assist in determining which sub-type of endometriosis the woman has (enabling precision, personalised, medicine in each individual’s treatment plan) and, ultimately, assist in monitoring whether any given treatment is effective.

What needs to be done to develop a reliable biomarker in endometriosis?

Identification of biomarkers for endometriosis diagnosis and management is a very high priority, and a great deal of research has been performed in this area.

Despite these efforts, it has not yet been possible to identify a specific biomarker or combination of biomarkers that have been validated to improve diagnosis and treatment of endometriosis patients.

This is likely due to the complexity and heterogeneity of the disease and the design and size of the studies performed to date.

WES and WERF support the global consensus statements on this matter:

  1. Discovery and identification of new, and validation of existing, endometriosis-associated biomarkers is required in adequately powered studies among diverse populations of women, to develop an accurate, non-invasive method to diagnose endometriosis.
  2. Multicenter studies of the biophenome should incorporate well-selected control populations, including women with other pelvic diseases, to achieve a high sensitivity and specificity and should focus on both discovery and validation phases.
  3. These less invasive diagnostic tests require future formal and robust evaluation of their accuracy.
  4. There are no studies that have assessed the accuracy of non-traditional biomarkers (such as those in saliva, skin, hair, vaginal fluid or other body tissues/fluids) for the diagnosis of endometriosis.
References
  1. Nisenblat V, Prentice L, Bossuyt PMM, Farquhar C, Hull ML, Johnson N. Combination of the non-invasive tests for the diagnosis of endometriosis. Cochrane Database Syst Rev 2016;7:CD012281.
  2. Nisenblat V, Bossuyt PMM, Shaikh R, Farquhar C, Jordan V, Scheffers CS, Mol BWJ, Johnson N, Hull ML. Blood biomarkers for the non-invasive diagnosis of endometriosis. Cochrane Database Syst Rev 2016;5:CD012179.
  3. Gupta D, Hull ML, Fraser I, Miller L, Bossuyt PMM, Johnson N, Nisenblat V. Endometrial biomarkers for the non-invasive diagnosis of endometriosis. Cochrane Database Syst Rev 2016;4:CD012165.
  4. Nisenblat V, Bossuyt PM, Farquhar C, Johnson N, Hull ML. Imaging modalities for the non-invasive diagnosis of endometriosis. Cochrane Database Syst Rev 2016;2:CD009591.
  5. Liu E, Nisenblat V, Farquhar C, Fraser I, Bossuyt PM, Johnson N, Hull ML. Urinary biomarkers for the non-invasive diagnosis of endometriosis. Cochrane Database Syst Rev 2015;12:CD012019.
  6. Johnson NP, Hummelshoj L, Nisenblat V, Bush D, Kiesel L, Adamson GD, Rombauts L, Advincula A, Missmer S, Zondervan K, Becker C, Fraser I, Guo SW, Giudice LC, Hull ML, for the World Endometriosis Society Sao Paulo Consortium. World Endometriosis Society consensus on the diagnosis of endometriosis. In preparation for publication 2018.
  7. Johnson NP, Hummelshoj L; World Endometriosis Society Montpellier Consortium. Consensus on current management of endometriosis. Hum Reprod 2013;28:1552-68.

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