Kristin K. Zorn, MD
Medical Director, UPMC High-Risk Ovarian Cancer Service
The high-risk ovarian cancer clinic is a multidisciplinary clinic that focuses on being able to help women understand their possible increased genetic risk for ovarian, fallopian tube, or peritoneal cancer. Counseling them about ways to manage that risk and possible strategies to help prevent cancer down the road.
We start by taking an in-depth family history. They work with our genetics counselors in order to get a detailed family pedigree, and then we get an assessment of the likelihood of an inherited genetic syndrome being passed in the family.
And from that we can decide whether genetic testing is appropriate for that patient or not, and then help counsel her about ways to manage that risk.
Understanding genetic mutation
What happens with the mutations that we’re assessing patients for, they’re called BRAC 1 or BRAC 2 mutations. And they’re inherited in a way that’s called autosomal dominance. So that means either parent can pass it on to a child of either sex. And what’s important about that is that it can affect girls as well as boys, and so women are very concerned about understanding their own personal risks so that they can in turn counsel and help their children get appropriate counseling about their risk.
The genetic link
The typical patient who comes to see us has somewhere in her family history ovarian cancer and/or breast cancer cases that have made her concerned about her own risk for developing one of those cancers.
We’ve always known that there are families who must have something genetic going on because they have such terrible histories of breast and ovarian cancer.
But unfortunately we didn’t have good strategies for helping them to manage it. But now that we’re able to identify BRCA mutations, we can take very proactive steps with patients and their families for how to manage that risk and hopefully, avoid ever being diagnosed with a cancer.
We also want to help the woman who probably inappropriately thinks she’s at increased risk for ovarian cancer, and may not be making good decisions in her life because she thinks she’s at higher risk than she is.
Knowing is the beginning
I think the main concern, for someone, is that they’re not sure whether they want to take that step … and I would just encourage them to come for the first step of the counseling because that doesn’t commit you to doing genetic testing.
What’s most important to the patient is to leave the clinic session more informed than when she arrived. And whether that’s because we’ve taken a burden off her shoulders and told her that she doesn’t have an increased risk for breast or ovarian cancer based on her family history.
But conversely, if we said yes, we are concerned and we’re going to take that next step of genetic testing, and maybe even identify that genetic mutation, but now in some ways we’ve taken a burden off of her shoulders because she’s not in that gray limbo zone of thinking she’s at increased risk but not knowing for sure, and now we’ve given her some very concrete next steps about how she’s going to manage that diagnosis and that risk.