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Why Genetic Testing Is So Important in Ovarian Cancer

By Gina Columbus
PUBLISHED THURSDAY, JANUARY 1, 1970
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.

Oncology Nursing News: 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. Genetics is my passion; not many people are into genetics. It is complicated, but we have to keep pounding away and reminding everyone how important it is for the patient, their families, and for their treatment, and I will keep saying it over and over again until we get it right. It is going to take a while because medicine is slow that way.

How can community oncologists emphasize the importance of screening for their patients without a family history of ovarian cancer?
That is the first message: to recognize that everyone gets tested. That’s the easy thing. The reality is, in a busy clinic, when you’re running more than 1 hour behind, [it’s challenging] to have to talk about genetics and counseling with patients and how to do it. That is the reality of why 100% of patients aren’t being tested, and we recognize that.

Part of our job in the genetics world is to get professionals, such as genetic counselors, connected with people, even if they’re not directly working in your office. Practitioners should know their local genetic counseling resource. We strongly encourage nurse practitioners and advanced practice providers to learn genetics because they tend to have a little bit more time than most clinicians to spend with their patients and go over these.

Genetic tests aren’t just a quick test; you have to counsel patients on what happens if the test is positive or negative, or if they have a variant in the gene. You don’t do testing just like any other blood or requisition test. The counseling part is sort of the elephant in the room where you can say, “Test everyone,” but how do you practically implement that? I am a medical director of a hospital referral center and I also have 2 board-certified genetic counselors in my practice; I see the different worlds.

A nurse practitioner can explain the basics, get it done, and not occupy the time of a practitioner who may not have the time. Therefore, it is a complex solution to an important problem. The genetic counselors are key; the problem is there are not enough of them. It’s hard to bill for their services, so many people don’t want to hire a genetic counselor. Things have to change in that regard.

Years from now, we are going to look back and say, “Boy, we were slow on the uptake of this.” But, we are not going to stop until we get it right. We promote genetic counselors, education, and we want not only physicians to come to these conferences, but also their nurse practitioners and providers. The public is actually important, too. If a family member of somebody going through ovarian cancer understands, listens, and realizes there’s a genetic mutation, that is important for their care. A week or 2 doesn’t go by where someone walks in my office, even with a strong family history, and no one—the breast surgeon, medical oncologist, etc—brought up genetic testing. They are all so focused on treatment that they didn’t have the infrastructure to do the testing in the past. Therefore, we're playing catch up.

Looking back, when you have a 5-year survivor who previously did fine with an early-generation test, you need to ask, “Did you have the updated testing or non-BRCA gene testing?” We are not quite at that level yet because we are still getting people to do BRCA testing, but we’re already past BRCA now. We are in panel testing and now going back through the work of retesting patients who tested negative, as they may have another mutation. That is a whole other ball game. We can’t just sit back and say, “Well, it’s too complicated.” You have to keep pushing the envelope. You just can’t give up; you have to be relentless.

It is a programmatic issue that genetic counseling centers and private practice groups are addressing. Arizona Oncology hired 2 board-certified genetic counselors; we were the first to bring genetic counselors into the private practice. Usually, they are at a hospital or academic center but that paradigm has changed. The more you test, the more work it is, right? Therefore, we have to address the human engineering part and the education part. It is a big project but we are on it. 

What are some of these other mutations patients are being tested for?
That is a great question. For example, PALB2 is related to BRCA—it’s the number 3 gene we find in breast cancers, along with the CHEK2 mutation. However, in PALB2 for example, the guidelines now state that risk reduction surgery is approved for having that mutation. Therefore, if you’re only testing for BRCA genes, you may miss patients with PALB2 that may be at risk for breast cancer who could be offered risk reduction surgery. For ovarian cancer, another common gene is BRIP1. The problem with ovarian cancer is that there is no screening period. There is no effective screening tool, so if you don’t recognize the patient at risk and undertake risk reduction measures, just monitoring them will not prevent them from getting the disease. That is why it’s so critical to use genetic information in a proactive way for the appropriate patient. Perhaps they have completed childbearing, don’t necessarily need their ovaries anymore, and then take it to another level.

We are actually learning now that ovarian cancer really isn’t ovarian cancer per se—most of these are coming from the fallopian tube. Many young women with these genetic mutations are being offered removal of the fallopian tubes only until they’re older and then perhaps will want to have their ovaries out. That is another new development that’s gaining as an appealing option for women who are afraid to get their ovaries out. You might save a life just doing something like that. 

Has enough research been done to know whether these gene mutations are likely to lead to a second gynecologic malignancy?
It strictly depends on that mutation you have. For instance, if you have Lynch syndrome, that is the hereditary colon cancer, endometrial, ovarian, and other cancers. If you have ovarian cancer from that mutation which is a different syndrome that increases your risk, you’re at risk for a bunch of other cancers, from cancers of the brain, breast, stomach, gastrointestinal, kidney, etc. It is a long list of cancers.

To answer your question, absolutely. However, BRCA is another example. We always talk about breasts and ovaries but, for men, BRCA can increase the risk for prostate cancer. Moreover, BRCA2 for women is maybe not as aggressive as BRCA1 mutations for men. Men who have a BRCA2 mutation have a higher risk of early onset prostate cancer that is more metastatic. The particular gene in males or females drives different risk profiles for other cancers.

The genetic information isn’t just important for family members; it is to identify your risk of getting other cancers. It’s great to survive 1 cancer, but if you’re at risk for another 1 you still need to be proactive; there’s no law of nature that says you can’t have 2 cancers. Having 1 cancer doesn’t protect you from getting another. As sad as it is for some of these patients who survive 1 cancer, you have to be on the lookout if you have a genetic risk factor for other cancers. It would be a shame if you took your eye off the ball and celebrate that you conquered 1 cancer and then get struck down by another 1. It’s a burden on patients to worry about it, but usually they get used to that and accept the reality. It’s so much better than putting your head in the sand.
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