Dr Jamie Bakkum-Gamez Discusses the Importance of Genetic Testing After Ovarian Cancer Diagnosis

Jamie Bakkum-Gamez, MD, associate professor of obstetrics and gynecology and Gynecologic oncologist at Mayo Clinic, talks about the importance of a patient receiving genetic counseling after an ovarian cancer diagnosis. 

Why is genetic counseling so important after a patient is diagnosed with ovarian cancer?

Thank you for asking this question I think this is really, really important. A lot of patients and providers don't realize that ovarian cancer has a huge genetic component as far as the causes of it. About 20% of women who are diagnosed with an ovarian cancer actually have a gene mutation that caused it. When I say gene mutation, I mean something that they inherited, something that they could potentially pass onto their children, or be sharing with a sibling. 

Ovarian cancer is one of the most lethal cancers that a woman can be diagnosed with. In fact, 75% of the time it's diagnosed at an advanced stage. We don't have a screening test for it so picking it up early is really by luck or by chance. In women who are diagnosed with advanced stage, the liklihood of them being alive at 5 years is around 60%– again, that is because this is a highly lethal disease. 

Women who are diagnosed with an ovarian cancer should be seen by a genetic counselor. Basically what will happen when they're seen by a genetic counselor is that the genetic counselor will go through their family history, personal history, and look for other signs that may indicate a genetic mutation that caused the cancer. 

So, ovarian cancer tends to travel with breast cancer, so it's important for women to know that a strong family history of breast and/or ovarian cancer should prompt genetic counseling. The National Comprehensive Cancer Network [NCCN] basically has guidelines for when women should be referred for genetic counseling. A personal diagnosis of ovarian cancer is all you need to be recommended for genetic counseling. 

The Society of Gynecologic Oncology also has a statement supporting the fact that women should be referred for genetic counseling if they have this diagnosis. At Mayo Clinic, in 2015, we looked at our genetic counseling referral rates for women with ovarian cancer diagnosis. It was a quality improvement project actually, and we defined what our current rate was, and it was 20%. Which really– we weren't compliant then essentially with NCCN guidelines. And so we implemented a bundled approach that included patient education, order sets and referral guideline implementation into the electronic medical record for each woman diagnosed with ovarian cancer. 

Patient education– not just through check lists of risks factors but also education in the form of a short video that they watched in the hospital after their surgery. What we were able to do is we were able to increase our rates of referral from our pre or historic referral rate which by the time we implemented the project we actually moved the needle a little bit already, we were at 40% referral. But with our quality improvement project, we actually went up to 77% referral rate. 

So, we're continuing to try to refine that because ideally we do want to chase 100% because all of these women really should be seen for genetic counseling and offered genetic testing.
Print | AJMC Printing...