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Expert Emphasizes Significance of Genetic Testing in Ovarian Cancer

Gina Columbus @ginacolumbusonc
Published: Friday, Apr 14, 2017

Mike Janicek, MD

Mike Janicek, MD

While BRCA1/2 testing has become a much more standard approach for patients with ovarian cancer—and their families—it is still not fully adopted across US oncology practices, even though 1 in 4 women harbor the BRCA gene, says Mike Janicek, MD. And beyond BRCA1/2, there are other hereditary genes that practitioners must begin testing for, he adds.

“Ovarian cancer is very unique in that it has a high percentage of patients who have an inherited mutation,” says Janicek, a gynecologic oncologist at Arizona Oncology.

Janicek lectured on the importance of genetic testing in the field during the 2017 OncLive® State of the Science Summit on Advanced Ovarian Cancer. In an interview during the meeting, he shed light on why physicians are slow to educate patients on testing, the detection of genes aside from BRCA1/2, and the lesser-known benefits of getting genetic testing early on in a diagnosis.

OncLive: Genetic testing in ovarian cancer is a heavy topic. What did you highlight?

Janicek: For anyone in the audience who ever dealt with a patient with ovarian cancer or knew anyone with it, the highlight was to focus on how the landscape of genetic testing dramatically changed over the past 4 years. Back in June 2013, the US Supreme Court struck down the patent on BRCA1/2 testing only. Before that, going all the way back to 1996, all we tested for was BRCA1/2 patients. However, there are many other genes involved in ovarian cancer that are hereditary that are very important as well—maybe not as important as BRCA1/2, but still important. Overnight, the landscape changed where we’re now able to test patients for multiple genes.

Many people don’t know the fact that 1 in 4 women with ovarian cancer have a hereditary mutation. That is quite a bit. When you look at the overall country, there is probably one quarter of a million people with the BRCA mutations and only 5% to 6% of them have been tested. The message is that we need to do a better job as a medical profession on getting the awareness out that it is fairly common. Ovarian cancer is a high percentage of genetic mutations that are hereditary compared with other cancers like breast cancer.

The other important point that has changed in the past few years is the understanding that you don’t need a family history or an early onset. That used to be the old teaching; now the rules are completely changed. 

Any patient with ovarian cancer, peritoneal cancer, or fallopian tube cancer should be counseled or tested. That has changed from the times from when we would ask them about their family history and, if they were a little older, maybe we wouldn’t need to test them. That has all changed.

Then, you put that on top of the Supreme Court decision; we've gone from testing 2 genes in select patients, to testing 20-plus genes in every single patient. That has dramatically changed what we do in clinical practice. 

It is safe to say that the medical profession is slow to adopt change. So, there have been surveys by oncologists that perhaps half of patients with ovarian cancer are being tested; that is not good enough. The guidelines clearly state that all patients should be counseled and tested. Patients should be informed and given the option to test, and many of them usually do.

The other facet that’s developed over the past 2 years is genetic testing used to only be, does it affect your family or your risk for other cancers? Now, with drugs like PARP inhibitors, your genetic information will directly impact your treatment. There are drugs specifically designed to work on tumors that have those genetic mutations.

We always used to ask patients, “Did you inherit it?” Now, we're asking, “Perhaps you didn't inherit a mutation, but is it present in your tumor?” The genetic testing landscape has gotten more multifaceted and complex because it’s no longer just a blood test and whether you inherited it or it’s a mutation that developed later in life.


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