Today I had my first consultation with a genetic counselor. I think many women who are diagnosed with breast cancer, especially those with a known family history are recommended by their surgeons and oncologists to see one. I have been putting off this appointment for a while, mainly because everything else I have been dealing with has been so time consuming. But a couple of months ago I decided that I was ready to get some answers and today I finally got to start the process.
Like all appointments that seem to go hand in hand with a cancer diagnosis, the information was overwhelming. Between being a bit sleep deprived since I am nursing a cold and my chemo brain, I’m not sure exactly how much I remember. But I’ll certainly try.
The counselor started the appointment by getting my family history. Since I have quite an extensive pattern of breast cancer in my family on my maternal side, this took a good half hour. Yeah. It’s that long. But of those who have gotten genetic testing in the past, no one has come up positive for any of the genes that associated with breast cancer.
Next, she gave us a quick review of genetics, chromosomes and all of those fun things. I was surprised by what I remembered. She said that only 10 percent of all breast cancers are hereditary related. The others are caused by environment, diet, lifestyle, to name a few. But when it is genetic, especially in Ashkenazi Jews, which I am, it’s often the BRCA1 and BRCA2 genes.
Everyone has BRCA genes. Having this gene is not bad, it’s just a part of being human. In fact, the BRCA gene is a tumor protein suppressor. It helps prevent tumors from growing! The problem is when this gene has a mutation, which alters the code of the gene, that women can have a problem which can result in breast and/or ovarian cancer. This gene can be inherited from either the mother or the father.
There are other genes that they know are associated with breast cancer that they can test for and they are finding more all the time. My aunt was tested just two years ago and between improvement in technology and the discovery of more genes, my panel of testing can be even more varied.
Here’s where it gets complicated. I was literally given a menu of options for my genetic testing and it was all about the answers I want to get. I could get tested for just the BRCA gene and nothing else. I could get tested for the genes, about 16 of them that they know are directly associated with breast cancer and linked to other cancers. Finally, I could go with the platinum plan and get screened for 43 different gene mutations, some which don’t even apply to me (like a gene associated with colon cancer). The genetic counselor said it was about my attitude. Do I want clear cut definitive answers? Do I just want to know if I have the BRCA mutation or am I good with a bit of uncertainty? If I’m tested for all of the genes, well, we don’t know a lot about some of them yet and don’t know how to go about future care. But that’s always changing. What we don’t know now we might have the answers to in a year or two.
I chose to get tested for everything. I’m here. I might as well get as much information as possible.
Genetic testing is easy. They just took two vials of blood. They send it off to a lab and in five weeks I will have all of the answers. Crazy.
Here were some questions I had.
1) All of my relatives who have been tested for the BRCA gene have tested negative. What are the chances that I have it?
I thought the answer to this would be, slim to none. But unfortunately, that is not the case. Those who were tested in my family were tested several years ago. Technology has changed and testing is more comprehensive and accurate now. It’s also possible that some of the family members who got breast cancer got it for other reasons besides genetic ones and that’s why nothing showed up. We also don’t know much about my father’s side of the family so we have no way of knowing if anyone on that side might have carried the gene. The way she was talking, she sounded suspicious that I could be positive for the mutation. “You sound suspicious that I might be positive for the mutation.” She answered, “I am.”
2) What if I do test positive for the gene mutation? What is the next step?
If I am positive, I will probably have a very long sit down with my surgeon and oncologist but the recommendation is usually to have a second mastectomy and have my ovaries removed. It’s quite drastic. I don’t know how many choices I will have, considering my current history.
3) What do I want to hear? That I do have a gene mutation or that we couldn’t find anything?
Well, neither is great. If we find a gene mutation, at least we know how to screen me and treat me going forward. If we find nothing, well, we know that this is genetic but we don’t know what it is and what exactly to do next, but it might mean no more drastic surgeries for now.
Honestly, I don’t know what to hope for. I’m not sure the word “hope” fits in here. There’s no good answer. There’s no good outcome. But no matter what, I am getting answers. In just five weeks I might know my fate. But it’s already determined, isn’t it? It’s already in the genes.