The Genetics Counselor Visit

I am so grateful that we live in a metropolitan area where so many resources related to breast cancer are available. In particular, I'm quite pleased with the services I am getting from one hospital system. It makes care easier since all the providers can communicate easily and are familiar with each other.

From past blog entries, you have learned that I have a strong family history of female-related cancers, so the surgeon and oncologist felt strongly that I could benefit from genetics counseling to determine if I had the BRCA1 or BRCA2 gene mutations that are found primarily in Jewish men and women of Ashkenazi descent. Today, I went for that visit and it was eye opening.

The genetics specialist had taken my family history and entered it into a special database to determine my personal risk, which was 19% based on my mother's history alone, compared to 10% of the Jewish women over 40 with history of breast cancer of Ashkenazi descent. She felt it would benefit me and my daughters to follow through with the testing, which is in two parts.

Some insurances won't cover it so I have to be prepared to pay toward it, but David and I discussed this was important to know so we're going for it. The first test costs $600 and it only tests for the BRCA mutations (3 types). If that test comes back negative, they do a more extensive test, which costs $3000. Hopefully, our insurance, which has paid up to now, will cover.

You may wonder what the benefits of this knowledge may be? If I am positive, then I have a 50-85% chance of getting breast cancer in my lifetime, which we know I already have. There is also increased risk in getting it in the non-affected breast in the future along with a possible 65% risk of getting ovarian cancer on top of the breast cancer. If I'm positive, I'll bow out of the radiation and go for a bilateral mastectomy and total hysterectomy, including ovaries to mitigate the risk. David and I discussed reconstruction a while ago, and we're both okay without going that route. I've been reading that should there be recurrence in the chest wall behind the reconstructed area, they have to remove it all anyway. I've enjoyed what I've had for all these years. They've effectively nursed my children, and did their duty so I can accept that they may be more a detriment than an asset.

With this knowledge, I can also guide Rachel and Carol in getting early surveillance, by being proactive. The genetics counselor advised me that new laws were passed this year preventing insurance companies AND employers from denying tests and treatment AND employment based on genetic results. The reason so many young women have recurrence is that there isn't early enough surveillance for those at risk. This way, breast MRIs are given yearly, in lieu of mammogram. MRIs help diagnose the density in younger breasts much better than mammograms so that newly developed cancers can be found before they become invasive. With positive BRCA, surveillance is recommended to start between 20 and 30 years old.

So you're probably asking what it means if the tests are all negative. The geneticist said that there could still be a family heredity, but the particular gene abnormality may not be established yet. Either way, I contribute to the pool of research knowledge that may help someone else.

Other things I learned today. I am considered at higher risk for recurrence just because I am premenopausal with breast cancer, even though I'm over 50. It is likely my mother was also premenopausal when the cancer first started, but the mammograms at that time just weren't that good at early detection, so she didn't know until she had a lump and already had node involvement. The geneticist said that other factors may have prevented my breast cancer from forming earlier. They just don't know enough yet.

So...it continues to be a journey for sure. Some days are more positive than others. Here I go again and wait for results, which I should hear in two weeks. It isn't easy.