A ‘groundbreaking’ test that can detect up to 90 per cent of endometriosis cases could save millions of women years of agony.
The test looks for tiny DNA fragments in the blood and may spare women the need to undergo keyhole surgery to diagnose the condition.
It takes an average of seven and a half years to get a diagnosis from the first signs – but this test can give a result in a few days.
Developed by UK scientists, the test should be available privately for £250 within nine months.
Endometriosis is thought to leave 1.5million British women in agony every month, but many women may think they are just having painful periods.
A ‘groundbreaking’ test, developed by scientists at University of Oxford, could diagnose 90 per cent of endometriosis cases within a few days
The Mitomic Endometriosis Test was created by MDNA Life Sciences and experts at the University of Oxford.
It looks for biomarkers of endometriosis in the blood, through the close examination of mutations in DNA.
A study published in the journal Biomarkers in Medicine found 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.
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.’
WHAT IS ENDOMETRIOSIS AND HOW IS IT DIAGNOSED?
Endometriosis occurs when cells in the lining of the womb are found elsewhere in the body.
Each month, these cells react in the same way as those in the womb; building up, breaking down and bleeding. Yet, the blood has no way to escape the body.
Symptoms include pain, heavy periods and fatigue, as well as a higher risk of infertility, and bowel and bladder problems.
Its cause is unknown but may be genetic, related to problems with the immune system or exposure to chemicals.
The only definitive way to diagnose endometriosis is by a laparoscopy – an operation in which a camera – a laparoscope – is inserted into the pelvis via a small cut near the navel.
The surgeon uses the camera to see the pelvic organs and look for any signs of endometriosis.
If endometriosis is diagnosed, the endometriosis may be treated or removed for further examination during the laparoscopy.
Treatment focuses on pain relief and improving quality of life, which may include surgery or hormone treatment.
Source: Endometriosis UK
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.
It will only be available privately, but it is hoped women will be able to access it on the NHS in the near future.
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, pelvis, bowel, bladder and fallopian tubes.
Just like womb tissue, it swells and bleeds every month during a woman’s period.
As the blood has no way of leaving the body – unlike during menstruation – it this triggers inflammation, pain and a build-up of scar tissue.
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.
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.’
An estimated one out of 10 women suffer in the US, however many remain undiagnosed, according to Endometriosis Foundation of America.