Lack of Genetic Testing in Ovarian Cancer Due to Slow Changes in Healthcare, Writer Says

Lack of Genetic Testing in Ovarian Cancer Due to Slow Changes in Healthcare, Writer Says

A blog post by Emma Smith at Cancer Research UK asks why all women diagnosed with ovarian cancer aren’t being genetically tested for mutations in the BRCA1 and BRCA2 genes — a simple procedure that could optimize treatment and prevent cancer in family members.

The post, titled “All women with ovarian cancer should be offered genetic testing – so why aren’t they?” finds plenty of arguments in favor of testing women who are diagnosed with ovarian cancer, but not nearly as many reasons why genetic tests still aren’t part of routine testing at many cancer clinics.

Although mutations in the two BRCA genes are mainly linked to breast cancer, they also ramp up the risk for ovarian and uterus cancer. The genes are normally involved in repairing damaged DNA, and when they don’t work, mutations leading to cancer can easily accumulate.

Although these mutations also make cancers more sensitive to chemotherapy, many tumors develop a resistance to treatment over time. Fortunately, a group of drugs called PARP inhibitors work well in these types of cancers.

Smith points out that last year, England’s National Institute for Health and Care Excellence (NICE) recommended the PARP inhibitor Lynparza (olaparib) as a treatment for women with ovarian cancer caused by mutations in the BRCA1 or BRCA2 genes. The drug was also approved in the U.S. for this type of ovarian cancer in 2014.

What the blog post emphasizes, however, is that even though Lynparza is available for this type of ovarian cancer — and won’t work in cancer without the genetic mutation — many clinics still don’t offer patients genetic tests on a regular basis. As a result, physicians have no way of knowing which patients would benefit from a specific treatment.

But genetic testing has benefits that extend beyond current cancer cases, Smith writes. Since BRCA mutations are often inherited, a positive test in one woman could prompt testing in other family members.

Carriers of BRCA mutations are often offered options such as surgically removing the ovaries, fallopian tubes, and breasts. There are also hormone treatments that prevent cancers from forming. And for those women who don’t want to take these invasive measures, they can be closely monitored, allowing early treatment of the cancer if it appears.

A recent study showed that a newly developed genetic testing pathway, where the testing is done by the cancer clinic and not a genetic clinic, significantly reduced both the cost and time of testing. In addition to that study, which was performed at a single clinic, the blog lifted an earlier study supporting the same view.

Both studies showed that testing all patients for mutations did not increase unnecessary worry and distress, according to the blog post. Many women appreciated the option of an immediate test that did not involve genetic counseling — which could still be done at a genetic clinic at another time, if needed.

Smith also suggested that cost should not be an excuse for clinics that don’t offer genetic testing to all women upon diagnosis. The more streamlined approach where only women with confirmed mutations are referred to genetic clinics could save up to £2.6 million (about $3.4 million U.S.) a year, according to recent research.

Although researchers agree that testing should be available system-wide, the reason why it isn’t offered everywhere might just be the slow nature of change in healthcare structures.

“It’s a big task changing the guidelines that cancer specialists follow to treat cancer patients,” Dr James Brenton, an ovarian cancer specialist at the University of Cambridge, told Smith. “This has to involve the local commissioning groups and it’s not simple to do.”

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Magdalena holds an MSc in Pharmaceutical Bioscience and an interdisciplinary PhD merging the fields of psychiatry, immunology and neuropharmacology. Her previous research focused on metabolic and immunologic changes in psychotic disorders. She is now focusing on science writing, allowing her to culture her passion for medical science and human health.

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