Genetic Counseling and Testing Can Be Tough to Revisit

Even though I am over seven years out from IDC (invasive ductal carcinoma) breast cancer and three years out from a melanoma, my oncologist has repeatedly suggested I go back to see the genetic counselor again because of all the changes research has brought us in that area. I delayed because I wasn’t sure I wanted to open that can of worms again. Would I really consider having a double mastectomy after being seven years free of breast cancer? This summer, I lost my mom to an aggressive type of metastatic lobular carcinoma. While watching that heart-breaking process, I made up my mind. I made the phone call to set up the appointment.

It was a hard call to make. It felt like choosing to step into the mud—again. Revisit cancer? Seriously? Why? I need science-based answers to the whispers and worries creeping around in my mind—especially since the death of my mom. Also, part of being an adult surviving cancer is being responsible. This is the responsible thing to do for myself and for my daughters.

Still, I am hesitant and worried. What results or statistics would prompt me to consider a double mastectomy or medications with side effects at this point? What is my number? What are tolerable odds of survival or recurrence? What odds would push me toward surgery? I honestly don’t know. It seems like a reasonable question to resolve before I get my number, but until I get my number, I won’t really know how I feel about it.

Seeing a genetic counselor is different than seeing a doctor. I found myself in a windowless office that looked like any other office. The genetic counselor had her master’s degree and was certified, as well as licensed by the state. I provided my family history and we went over some considerations. The reason for testing again did not really have to do with the severity of Mom’s cancer. It involved several factors including my small limited family history and how young I was when I had breast cancer (under 50). It also had to do with advances in the field of genetic testing—more BRCA1 and BRCA2 markers as well as other DNA markers that were not known seven years ago at my diagnosis. This is a rapidly progressing field and things will also be different down the road from what they are today.

The results of the DNA test could be positive and have an effect on my ongoing treatment plan or implications for other people in my family. Even if the results are negative, my cancer could still have had a genetic basis and still could require additional testing, now or in the future. The third possibility (from the informed consent form that I signed) is that the results could come back “of uncertain significance” so that testing more family members might be helpful, or things may be uncertain for the foreseeable future or possibly resolved over time.

In addition, the consent form mentioned (summarizing here): Not everything will be detected by the current test, there can be technical errors in the process, only parts of the DNA sequence of genes will be interpreted, the results only go to me and the specific doctors I pick, the data is analyzed with the assumption that I provided correct family information, my data will be stored and protected, and that the test lab may notify me of clinical updated related to my genetic profile.

Most important (to me) was that the form pointed out it was my responsibility to consider the impact of these results as it relates to insurance rates, obtaining disability or life insurance and employment for me and for my children. The Genetic Information Nondiscrimination Act (GINA) is a federal law that provides some protections against genetic discrimination--http://www.genome.gov/10002328.

What happens if I am hit by a car tomorrow? I asked about accessing the DNA data of a deceased relative to determine best courses of action for living descendants, especially as they continue to be able to detect more relevant DNA areas. It sounded like the laws and access to that information are not there yet. I asked how I could help my daughters even if I was no longer living. I was told that I could “bank” my blood or saliva samples with a third party for $175. In addition to the fee, I would need to pick people (in my case, my daughters) who could have access to the deposited DNA.

Wow, I left after my simple blood draw with approximately three weeks before I will have results, and lots to think about. My genetic counselor shared the following resource http://www.aboutgeneticcounselors.com. I wanted to share my experience as a fellow cancer survivor with you. I am sure this is an incomplete story of the issues involved. I am sure that much of this boils down to specific individual personal decisions based on unique individual circumstances. I just wanted to share and to begin the discussion.