Conference Coverage

Genetic testing may improve diagnosis of endometriosis

 

Key clinical point: Genetic testing appears accurate in detecting endometriosis risk.

Major finding: A total of 189 of 200 women (95%) with endometriosis were correctly classified with the disorder. Also, 176 of 200 women (88%) with no evidence of endometriosis were correctly classified as having a low risk of endometriosis.

Data source: Blinded, randomized pilot study of two groups composed of 200 women each. One group consisted of women with confirmed endometriosis and the other group consisted of women with no evidence of endometriosis.

Disclosures: Dr. Fogelson reported having no conflicts of interest. Other researchers on the study work for Juneau Biosciences and receive stock options as part of their compensation.


 

AT AAGL 2017

–Genetic testing could provide a useful noninvasive diagnostic tool in identifying patients with endometriosis, according to a study conducted by Nick Fogelson, MD, of Pearl Women’s Center in Portland, Ore., and his colleagues.

Dr. Fogelson presented the findings from a blinded, randomized pilot study at the AAGL Global Congress. The study included two groups of 200 women each. The first group of women had previously been diagnosed with endometriosis. The second group comprised women with no evidence of endometriosis. In the group with endometriosis, the test correctly identified endometriosis in 189 of the 200 women (95%). The women with no evidence of endometriosis were accurately identified as having a low risk of developing endometriosis in 176 of 200 women (88%).

The samples were collected from around the United States as part of ongoing research by the Utah-based genetics company Juneau Biosciences.

Both groups were genotyped for 1,067 low-frequency DNA variants associated with endometriosis using a proprietary algorithm. The researchers then compared genotype results with a large dataset of 1,000 genotyped endometriosis patients and 33,000 published controls and assessed patient risk of developing endometriosis by weighting each genotype by the logarithm of the odds ratio.

“We’re getting toward a time when you will be able to tell if someone has endometriosis by looking at their genetics,” Dr. Fogelson said.

The genetic analysis hold potential in a disease state where misdiagnosis by nonexpert physicians can be high. Dr. Fogelson estimated that the misdiagnosis rate in endometriosis based on physical exam and patient history alone is about 50%. Compounding this issue, many insurers have reduced payment for diagnostic laparoscopy leading to surgeons’ placing patients on long-term medication treatments when they would benefit from surgery, Dr. Fogelson said.

“Noninvasive DNA testing may help to direct symptomatic patients to specialists who can effectively treat the disease state.” Dr. Fogelson and his colleagues wrote in the study abstract. “DNA markers might have better correlation to the subtypes and extent of disease than histology alone.”

Additional trials are currently underway using the genetic marker test; one is a prospective study and is expected to be completed in early 2018.

Dr. Fogelson reported having no conflicts of interest. Other researchers on the study work for Juneau Biosciences and receive stock options as part of their compensation.

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