Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer Guideline

An interview with Dr. Christina Annunziata from the National Cancer Institute on "Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline". This guideline provides recommendations for women diagnosed with epithelial ovarian cancer and their families on which individuals should receive risk evaluation, counseling, and genomic testing, and when they should be tested. Read the full guideline at www.asco.org/gynecologic-cancer-guidelines.

Transcript

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The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions. Guests on this podcast express their own opinions, experience, and conclusions. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement.

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Hello, and welcome to the ASCO Guidelines podcast series brought to you by the ASCO Podcast Network, a collection of nine programs covering a range of educational and scientific content and offering enriching insight into the world of cancer care. You can find all the shows including this one at podcast.asco.org.

My name is Brittany Harvey. And today, I am interviewing Dr. Christina Annunziata from the National Cancer Institute, co-chair on Germline and Somatic Tumor Testing and Epithelial Ovarian Cancer: ASCO Guideline. Thank you for being here Dr. Annunziata.

Oh, it's my pleasure. Thank you.

First, can you give us a general overview of what this guideline covers?

Sure. So this guideline is covering the use of molecular testing in women diagnosed with ovarian cancer. And that's specifically what tests should be done and when to do them.

And what are the key recommendations of this guideline?

The key recommendations really are that all women diagnosed with ovarian cancer should be tested for certain gene mutations that are responsible for predisposing people to ovarian cancer and also that a genetic counselor should be involved in discussing the results of these tests with the person involved and with her family. In the guidelines, we go into specifics of which genes should be tested at what point in the course of the disease. And the guidelines mainly focus on the BRCA genes and mismatch repair genes because these are the ones with approved treatments for cancers with these mutations.

What are the clinical questions that you addressed in this guideline?

So we have three main questions when we started out. We wanted to know, first, in which individuals should risk evaluation counseling genomic testing for germline and somatic tumor alterations be performed. We also wanted to know, number two, which genomic alterations had actually demonstrated clinical utility to direct therapy for women with ovarian cancer. And third, what is the most appropriate sequence and timing of testing, meaning specifically at what point in the course of the diagnosis and the treatment of the women should we be performing this testing?

So we came up with specific answers to each of these questions. And just to briefly summarize, for the first questions in which individuals should we test, we did find evidence that all women diagnosed with ovarian cancer should be offered germline testing for, specifically, BRCA1 and BRCA2 cancer susceptibility genes, irrespective of whether or not they had a family history of the disease.

Also within that question, we found evidence that women who have non-high grade serous ovarian cancer, specifically clear cell endometrioid or mucinous ovarian cancer, should have somatic tumor testing for mismatch repair deficiency. And both of these recommendations are because there are FDA approved therapies for women with cancers with these particular genetic makeups.

In the second question, we asked, which genomic alterations have demonstrated clinical utility? This goes specifically into, which specific genes should be tested in the germline and the somatic setting? And in that recommendation, specifically, we focused on, again, the BRCA1 and 2 genes and the mismatch repair deficiency genes.

We did not make specific recommendations for the homologous recombination deficiency assays at this time. Those are still undergoing evaluation. And it's likely in the near future that we will amend this recommendation to specifically discuss those.

In the third question, what is the most appropriate sequence and timing of the testing? That goes into, when should we be doing this in the course of the disease? And we did want to emphasize that women with ovarian cancer should be tested at the time of diagnosis because of the specific implications for therapies. If they have not had testing at the time of initial diagnosis-- let's say they were diagnosed several years ago-- then they should be tested at the time of their first recurrence or subsequent recurrences if those have already happened. And again, these have implications for treatment.

Why is this guideline important, and how will it impact practice?

So one of the most important recommendations is that all women should be tested at the time of the initial diagnosis. In practice today, we estimate that only about 1/3 of women are actually being tested at the time of diagnosis. This testing is important, especially for the BRCA genes, because this has implications for the choice of treatment because of recent FDA approvals for PARP inhibitors in this setting.

And how will these guideline recommendations affect patients?

Our goal is to ensure that all women have access to the best treatments for their ovarian cancer. In order to achieve this goal, doctors need to be aware of best practices, and patients need to understand the results in the context of their disease.

This is why we recommend that the results of the gene testing be delivered to the patient in conjunction with a genetic counselor because this has been shown to increase understanding of the tests and follow through on the recommended treatments. In some settings, we know it may be difficult to arrange these discussions with a genetic counselor, so we hope that these guidelines will emphasize the importance of this step.

Well, thank you for your overview of these and for your work on these guidelines. And thank you for taking the time today to come on the show, Dr. Annunziata.

Oh, you're very welcome. And thank you for the opportunity to highlight these guidelines.

And thank you to all of our listeners for tuning into the ASCO Guidelines podcast series. To read the full guideline, go to www.asco.org/gynecologic-cancer-guidelines. You can also find many of our guidelines and interactive resources in the free ASCO Guidelines app available and iTunes or the Google Play Store. If you have enjoyed what you've heard today, please rate and review the podcast and be sure to subscribe so you never miss an episode.

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