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Blood Test for Endometriosis Detects up to 9 in 10 Cases

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A pioneering blood test that can detect up to 90% of cases of endometriosis looks for tiny DNA fragments in the blood, and could spare women needing to undergo keyhole surgery to diagnose the condition.

Developed by MDNA Life Sciences and Prof Christian Becker from the Nuffield Department of Women's & Reproductive Health, the test will be available privately within nine months at a cost of about £250 and potentially available via the NHS in the not too distant future.

Endometriosis can be extremely painful and is thought to affect 1.5 million women in the UK. According to the charity Endometriosis UK, it takes an average of 7.5 years to get a diagnosis from the first onset of symptoms. Experts now hope to speed up this process through a new blood test, with laboratory results available within a few days.

The Mitomic Endometriosis Test, which was developed at MDNA's Newcastle lab, looks for biomarkers of endometriosis in the blood through the close examination of mutations in mitochondrial DNA.

A study published in the journal Biomarkers in Medicine found that these newly-identified biomarkers can accurately detect endometriosis in blood samples in up to nine out of 10 cases, even in the early stages of the condition.

MDNA Life Sciences is now putting together a test kit to enable clinical laboratories in the UK and worldwide to carry out the test.

The company has already developed a blood test for prostate cancer and is looking to release tests for ovarian cancer and pancreatic cancer next year.

Other tests, for lung, liver, and stomach cancers could follow in 2021.

Dr Christian Becker, from the Nuffield Department of Women's and Reproductive Health at the University of Oxford, said: "Endometriosis not only causes enormous suffering to the affected women, but also brings a tremendous medical and economic burden to bear on society.

"There is a long lag phase between the onset and diagnosis of the disease, mainly due to its non-specific symptoms and because it can only be diagnosed invasively by laparoscopy.

"A specific, non-invasive test to aid diagnosis of endometriosis is certainly an unmet clinical need."

Dr Andrew Harbottle, MDNA Life Sciences' chief science officer, said: "Mutations in mitochondrial DNA act as ideal biomarkers, providing us with a unique and detailed diary of damage to the DNA and accurately detecting many difficult-to-diagnose diseases and conditions, such as endometriosis."

Harry Smart, MDNA Life Sciences' chairman said: "We are the only company to use mitochondrial DNA to detect diseases and have developed a library of 16,000 biomarkers to date.

"Our groundbreaking test for endometriosis will fundamentally change the way this debilitating disease is detected and diagnosed.

"We look forward to helping UK women get treatment sooner, reducing their pain and distress and providing cost savings to health services."

Endometriosis occurs when tissue similar to the lining of the womb starts to grow in other parts of the body, such as the ovaries and fallopian tubes.

It is the second most common gynaecological condition after fibroids and can affect fertility.

Until now, the only definitive way to diagnose endometriosis has been via laparoscopy - a type of keyhole surgery where a camera is inserted into the pelvis to look at internal organs.

This article has been republished from materials provided by the Nuffield Department of Women's & Reproductive Health. Note: material may have been edited for length and content. For further information, please contact the cited source.