DELAY IN DIAGNOSIS

First endometriosis blood test detects up to 9 out of 10 cases

First endometriosis blood test detects up to 9 out of 10 cases

 Endometriosis is notoriously difficult to diagnose. A recent study showed that it usually takes 7-12 years from first experiencing symptoms to diagnosis.

A private company (MDNA Life Sciences) announced that it is to launch the world’s first blood test for endometriosis, able to detect the disease in up to 9 out of 10 cases. Results will be available in a matter of days after the test is carried out, enabling doctors to make earlier decisions on diagnosis and treatment.

Endometriosis, a debilitating condition affecting 1 in 10 women of reproductive age, causes years of pain and distress. A surgical procedure is required to definitively diagnose the condition, resulting in an average delay to diagnosis of 7.5 years.

Using its proprietary technology, MDNA has developed techniques to exploit the unique characteristics of mutations in mitochondrial DNA, which can act as biomarkers for the presence of a range of diseases.

After successfully identifying biomarkers for different types of cancer, researchers at MDNA’s Newcastle upon Tyne laboratory have now identified biomarkers associated with endometriosis. Results of a clinical study recently published in the peer-reviewed journal Biomarkers in Medicine, show that the newly identified biomarkers can accurately detect endometriosis in blood samples in up to 9 out of 10 cases, even in its early stages.

MDNA has now embarked on a programme to create a CE-marked test kit to enable clinical laboratories in the UK and worldwide to carry out the test on a commercial basis. The CE process will be completed in 9-10 months.

Dr Andrew Harbottle, MDNA Life Sciences’ Chief Science Officer explains: “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”.

MDNA’s Mitomi Technology platform identifies and optimises the best biomarkers to detect a specific disease. The company has already demonstrated the accuracy of its technology in a blood test for prostate cancer. As well as the new test for endometriosis, MDNA is planning to release tests for ovarian cancer and pancreatic cancer next year. Tests for lung, liver, and stomach cancers will follow in 2021 and more tests are in the pipeline.

Harry Smart, MDNA Life Sciences’ Chairman says “Our ground-breaking test for endometriosis will fundamentally change the way this debilitating disease is detected and diagnosed. We look forward to helping women get treatment sooner, reducing their pain and distress and providing cost savings to health services”.

My opinion

The development of a reliable non-invasive test for the diagnosis of endometriosis is highly desirable and necessary since it will spare many patients of unnecessary surgical interventions and it will facilitate and speed up the diagnosis and management of endometriosis. This will immensely improve the quality of life of millions of women worldwide.

Source:

https://mdnalifesciences.com/2019/04/worlds-first-blood-test-for-endometriosis-can-detect-up-to-9-out-of-10-cases/

Endometriosis diagnosis takes 7 to 12 years

Endometriosis diagnosis takes 7 to 12 years

Endometriosis may affect all aspects of a woman’s life, including sexual relations, social activities, emotional well-being and work productivity.

The disease is costly. Claims data show that average annual health care costs (medical and prescription) are more than three times higher for women with endometriosis compared to patients without endometriosis, even five years pre- and five years post-diagnosis. Τhe cost can increase in cases of greater severity of the disease, presence of pelvic pain and infertility.

However, endometriosis is still underfunded and under-researched, thus limiting scientific progress and the number of available diagnostic and treatment options, according to a new review study.

Aiming to address these concerns, the Society for Women’s Health Research (SWHR) brought together a group of researchers, clinicians, and patients as well as industry and government officials, who evaluated barriers affecting endometriosis diagnosis and treatment, reviewed current practice, and highlighted research priorities.

Multidisciplinary approaches addressing all patient needs and greater disease awareness are needed to improve care, diagnosis and development of treatments for people with endometriosis, showed the resutls of the research “Assessing Research Gaps and Unmet Needs in Endometriosis,” which was published in the American Journal of Obstetrics and Gynecology.

According to the expert group, the current lack of knowledge and awareness about the causes of endometriosis contributes to the significant delays (7 to 12 years) from first experiencing symptoms to diagnosis. These delays are even worse for women with pelvic pain and for younger women, and may cause physical and emotional damage, as well as increase costs associated with the disease.

Another contributing factor is that the current gold standard for diagnosis requires surgery (laparoscopy), warranting the development of accurate, noninvasive and less costly diagnostic tools, such as biomarkers. Also, current guidelines only recommend assessing endometrial lesions, despite reports of a questionable association between the number of lesions and disease severity, symptoms and impact on women’s quality of life.

Campaigns to educate patients, healthcare providers, and the public may also help achieve more timely and accurate diagnosis and treatment, the team noted.

Additional barriers are difficulties with insurance coverage, and the stigma around menstrual issues and society’s normalization of women’s pain, which may make patients reluctant to discuss symptoms or seek care.

“In addition, women who do bring up their symptoms may fall victim to the well-documented clinical gender bias that has resulted in some women’s pain being dismissed or inadequately treated,” Rebecca Nebel, PhD, the study’s senior author and director of scientific programs at SWHR, said.

Standardized screenings, such as those used in cases of potential violence against women, could be used as a model in endometriosis, the experts said.

Other barriers are related to healthcare providers, as women need to make an average of seven visits to their primary provider before being referred to specialists, and often are misdiagnosed.

As for current practice in treatment, most medical and surgical approaches — including hysterectomy and uterus removal — focus on managing pain and associated symptoms by suppressing or removing endometrial lesions, but may not be effective.

Physical therapy, acupuncture, and yoga are examples of non pharmacological strategies that may help ease pain. Mental health professionals may help treat depression and grieving associated with endometriosis, while also providing coping and relaxation strategies.

Available medical therapies may induce side effects such as bone loss, hot flashes, and weight gain. Also, many cannot be used when women are trying to get pregnant, often forcing them to decide on whether to minimize pain or time their attempts to conceive while off medication.

Overall, “future treatments and care should shift toward a patient-centric, multidisciplinary approach that focuses on the patient as a whole, rather than one symptom at a time,” the experts said.

Centers of expertise taking an interdisciplinary approach with experts in “laparoscopy, medical management, pain education, physical therapy, and psychological care” may help implement treatment strategies “that address all the needs of the patient, including quality-of-life issues,” the team stated.

Read more: https://www.ajog.org/article/S0002-9378(19)30385-0/pdf

https://www.ajog.org/article/S0002-9378(19)30385-0/fulltext

Source: https://endometriosisnews.com/2019/02/28/multidisciplinary-approach-awareness-will-most-benefit-endometriosis-patients-experts-say/

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