My Favorite Pair of Genes
Tomorrow morning brings yet another appointment with yet another new doctor—a geneticist.
Only 5-10% of all breast cancers are genetic, but because of my age (young!) and because my first cousin, Jenny, had breast cancer when she was very young, all of my doctors have recommended that I consider genetic counseling. The purpose of the genetic counseling is to help me decide whether or not to have genetic testing done to determine whether my breast cancer was caused by a gene. (Jenny had the test done, but I won’t share the results of the test here unless she tells me it’s okay.) I have already decided to have the genetic testing done, so tomorrow I will just be looking for reasons that I shouldn’t do it.
Genetic counseling is required before the test because there is a lot that must be weighed in making the decision. I have found that most people’s gut reaction is to have the testing done, but there really are some valid reasons not to do it. Genetic testing is controversial because the results can follow you for the rest of your life. For example, if it turns out that I am BRCA1 or BRCA2 (the name of the breast cancer gene, which also has been found to cause ovarian cancer) positive, those results will have an effect on my insurability for the rest of my life. In addition, I have to decide what I will do with the results. If they are positive, that means the risk of the breast cancer returning is significantly higher. So then I have to decide if I am going to have a prophylactic mastectomy (preventive removal of the breasts). And if I do, will I have one breast removed, or both of them? Or neither? And if I’m not going to have one or both removed, why get the testing done? What about my ovaries? Do I have those removed, as well?
Then there are questions about sharing the information with my family. If my results are positive, what does that mean for my sister? My mom? My cousins and their children? My potential future grandchildren? And what about for Karly? Do I have her tested? And what if her results are positive? Do I share that with her now or do I wait until she’s 20 or 21 or 25? What kind of burden would it be to be sixteen years old and to know that you carry a gene that may very well cause you to contract breast or ovarian cancer? What does my sister do with the information? Does she get tested? If it’s positive, does she have a prophylactic mastectomy?
I know what my answers to most of those questions would be, but having the test done isn’t all about me. Suddenly, with just one or two vials of blood, the rest of my family and future family is directly involved in a way they haven’t been before. I hope that the results are negative.
Comments
Kim, I've read about genetic testing a lot recently, not because of anything in particular, but because I, personally, don't know what decision I would make. Would I want to know? Would I want (as you've said) to have my family know? There's so much involved. Thanks (again) for the thoughtful post and for your open and honest sharing of everything that you're going through.
Posted by: Ree | October 25, 2007 06:14 PM
I hope it's negative as well.
I read an article recently about imparting negative knowledge -- how useful is it, for instance, to the person with a terminal illness to be told of this? In past decades, doctors did not tell patients because they found that the patients did not fare well when told.
And yet, when given the choice, most people want to know everything and anything. The reality is that your potential "news" is not even a fraction as negative as a poor medical prognosis. And it's useful information for people who can, if they wish, act on it.
I'm sure that even if you do have a positive result, you'll use the information wisely. The decisions will be made by others. You're not also responsible for them.
Your daughter -- that's tough. I have a mother with breast cancer and I think about this as well each time I have a screening. If presented with care, I think the information can be filed as just that: information. We have much of it around us. This is just one small, small piece.
Best of luck to you.
Posted by: nina | October 25, 2007 06:40 PM
Good luck! I actually asked my doctor about getting tested for this last week. She said my mom and aunt (who currently have breast cancer) should get tested because their insurance will cover it. I probably couldn't get my insurance to cover testing. If I did get tested and have the gene then I will have problems obtaining insurance. So I am waiting for my mom's results. If she has it I am not sure what I will do. A big part of me really doesn't want to know if I have it.
Posted by: Mel Woods | October 25, 2007 11:03 PM
I have lunch every Tuesday with the genetic researchers/counselors at the hospital I am interning at as part of the breast cancer team, so I've been able to learn about the BRCA tests/genes. I can only imagine how complicated and conflicting it is for you to make that decision. One thing that really upsets me (as one of your other commenters noted) is that insurance will usually cover the BRCA testing for women with cancer, but NOT for their offspring and other relatives who do not currently have cancer. That makes no sense to me - if one of the goals of the BRCA test is prevention and early detection, then why are we only covering women who already HAVE the cancer? That makes no sense...
Hopefully you have a good social worker to talk to about all of this, and your genetic counselor is good. Thinking of you!
Posted by: Minivan mom | October 26, 2007 02:45 PM
Interestingly, I never saw a genetic councelor prior to my genetic test. I really didn't see the point. I needed to know and I wanted everyone who could possibly be effected to know. Here is my unsolicited two cents.
My grandparents generation believed that things like breast cancer or mastectomies were shameful and should be kept secret. Even close family members often didn't know when they had occured. This had even happed in my husbands family. His Aunt had a double mastectomy from breast cancer 30 years ago and her own sisters did not even know until she told them at my diagnosis last year. Until that time they had thought there was not history of cancer in their family.
I personally will not have my children get tested until they are adults. They don't need to know any earlier than that and there is the insurance issue to consider. I believe very strongly that knowledge is power. Knowledge gives us choices. I think every woman diagnosed, regardless of age, should be given the genetic test. My test was positive for BRCA 2. My test saved my mothers life. It made her get a test which changed the entire course of her treatment. Our tests made my sister get a test. Hers is negative. Thank God the madness stops there.
Posted by: imstell | October 26, 2007 03:16 PM
We'll hope and we'll pray that these results are negative. But should they be positive, think of the good you could be doing for others in your family.
Posted by: sherry | October 26, 2007 07:03 PM