Breaking news in the diagnosis of Endometriosis!

Recently it was announced that a new blood test has been developed to help diagnose endometriosis. Endometriosis is the very painful disease where cells that produce menstrual blood normally found in the womb lining (=endometrium) are outside of the womb, and as the blood produced can not escape anywhere, it causes cysts, inflammation and scarring. It is notoriously difficult to diagnose, with the gold standard for diagnosis being a surgical procedure, often leaving an unacceptable delay from onset of symptoms to diagnosis and treatment at an average of 7 years! You can read more about Endometriosis here.
‘MDNA Life Sciences’, a Newcastle based laboratory, has developed a non-invasive blood test that looks for biomarkers of endometriosis in mitochondrial DNA.

What are mitochondria?

Inside every single cell in our body are lots of tiny mitochondria which produce energy for the cell – they are basically a battery. Every mitochondrion contains multiple copies of it’s own simple DNA (mtDNA) which is altered when the cell is put under stress such as by diseases like cancer or endometriosis. But because there are so many copies of the mtDNA, it doesn’t need to repair the few altered mtDNA, leaving behind a unique, disease-specific biomarker.

What is a biomarker?

A biomarker is a measurable indicator of presence (or severity) of some diseases. In the context of this blood test, the biomarkers are 2 deleted genes in the mtDNA that are found in 9 out of 10 women with endometriosis, even in the earliest stages of the disease. This test is a not affected by patient age or menstrual stage at testing, making it easily accessible to all patient groups. In future, biomarkers may assist in determining which sub-type of endometriosis the woman has, enabling precision healthcare and personalised treatment, as well as monitoring whether any given treatment is effective. It could even be used as an endometriosis screening test for all healthy females once they start their periods, so it is a very exciting breakthrough.

Can I get this test?

This test is not currently available, however it is thought it might be accessible by the end of 2019, at a cost of around £250.
In primary care, a positive blood test result such as this could be a game-changer – it would support quick, confident initiation of endometriosis treatment (e.g. oral contraceptives) by GPs, or earlier referral to a Gynaecologist, and could potentially decrease the requirement for expensive and invasive abdominal surgery.
However a word of caution – any new biomarkers will need further robust testing on large sample sizes before they can be approved by the medical world as true and accurate diagnostic tests in all populations.