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Genetic Testing Becoming More Widespread in Ovarian Cancer, But Challenges Remain

Angelica Welch
Published: Friday, May 11, 2018

Mike Janicek, MD
Mike Janicek, MD
Testing for genetic alterations has become an important step in the treatment of patients with ovarian cancer. Although much has been achieved, says Mike Janicek, MD, there needs to be more widespread use of genetic testing in order to push the field forward.

Current guidelines state that any patient diagnosed with ovarian, fallopian tube, or peritoneal cancer should be offered genetic testing. Still, fewer than 20% of patients with breast and ovarian cancer who are eligible for genetic testing undergo it, Janicek says.

In an interview during the 2018 OncLive® State of the Science Summit™ on Ovarian Cancer, Janicek, medical director of the Genetics Division at Arizona Oncology, discussed the importance of genetic testing and how the field can benefit from a better understanding of it through genetic counselors and self-education.

OncLive: Have there been any advances in the last year in genetic testing for ovarian cancer?

Janicek: Yes and no. There has not been enough progress, in my opinion, but I am impatient. It has been 2 decades now since the discovery of the BRCA gene, but we still have not made enough progress in terms of getting the word out and getting testing done. There are estimates that fewer than 20% of patients who have breast or ovarian cancer and are eligible for testing have actually been tested. In the oncology world, the numbers are getting better, but we are still not where we should be. We have a long way to go, despite all of the progress that we have made. I still remain passionate about this.

There have been incremental changes in ovarian cancer with gene panels, targeted therapies, PARP inhibitors, targeting genetic mutations, and immunotherapies. We have made some astounding progress, and we are starting to see genetics creep into other fields such as breast cancer and prostate cancer indications. We are headed in the right direction.

How do you decide who to test and when?

Everybody. The guidelines state that everyone with ovarian, fallopian tube, or peritoneal cancer should be offered genetic testing. We no longer think that family history should be the only indicator, because about half of patients who have a mutation with ovarian cancer don’t have a significant family history.

The “when” part of the question is a little more difficult. For a patient with ovarian cancer who just had a major surgery, or debulking, and is recovering and facing the prospect of chemotherapy, throwing genetic counseling and testing into that mix is a little bit difficult upfront, so we typically wait until the second round of chemotherapy when the dust has settled and they are a little bit more accustomed to what has happened to them. They also have a better focus; genetic counseling is complex. It is not just a simple test and then see what we get—it takes preparation and there is a lot that goes into it.

I am a big fan of genetic counselors; they do a way better job than we do because they have expertise and more time to dedicate [to this area]. I am a big proponent of [patients seeing genetic counselors], but I am not opposed to physicians doing their own genetic testing if they know the basics and are unafraid to tap into a genetic counselor’s expertise [if necessary], and not just wing it. A lot of time goes into [testing]. It is a complicated topic, but there is no going back on this. We need to do more genetic testing; there is more genetic information coming up. It is hard to keep up, but it is a “train that keeps on chugging.” You also spoke on the different methods of testing.

What are the differences and how do you decide which you are going to use?

Historically, we have focused on germline testing; that is where it was the clearest indication for estimating risk and informing families of their risks. As we have learned more about what causes ovarian and other cancers, the germline has crept into the somatic.

Both are important in different ways; I don’t believe that one replaces the other. It’s a dangerous assumption to think that somatic testing will pick up the germline and vice versa; not all germline mutations show what is going on in the tumor. In my ideal world, we would do both—preferably at the same time. In my ideal world, it would be 1 test that covers both [areas] upfront.


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