Genetics

Today, I am having my blood drawn for BRCA gene analysis.

Thanks to my insurance company, this is the second time I'm having this done. Back in May, just after my lumpectomy, I met with a genetic counselor and had the blood drawn. My insurance company categorically denied the test, despite my filing appeals and a grievance against them. Then, after the threat of public exposure by a group at Yale (THANK YOU!), they reversed their decision and decided that they will now look at BRCA and other genetic tests on a case by case basis. Prior to this, they had a policy in place that denied ALL genetic testing unless it was prenatal. So, essentially, I could have gotten pregnant, had a PUBS (percutaneous uterine blood sampling, where the cord blood is drawn IN UTERO) and gotten results for my fetus, but not myself. Anyway, that fight is over now. They are covering it 100%! They just won't cover it retroactively. So, even though the lab had already extracted my DNA, we have to start all over again.

Here's my little public service announcement for the day:
MOST BREAST CANCER IS NOT GENETIC! 80-90% of breast cancer occurs in women without a significant family history.

Had to get that out of the way bc so many people believe they are not at risk bc "it's not in their family."

There are a few known mutations in the BRCA genes that bring a huge risk of breast cancer (and ovarian cancer) to the unlucky owners. Only about 5% of women/men with this disease actually carry these gene mutations. (We all carry these genes BTW. These genes probably are tumor suppressors when they are intact and fully functional). But, women with one of these gene mutations carry up to an 85% chance of developing breast cancer and up to a 60% chance of developing ovarian cancer. Just like with everyone else, the risk increases with age. Just being of Ashkenazi Jewish descent and being a woman diagnosed with breast ca under the age of 50, my risk of having one of these mutations is about 12%. However, because we already know that there is a BRCA1 gene mutation in the family, there's a little over a 50% chance risk that I do carry this gene.

I did consider having this test done a few years ago (the gene was only isolated in 1994). However, I had no first degree relatives with breast or ovarian cancer (not my mother or sister). Because of that, traditionally, I was not considered to be at a significantly increased risk. Increased, yes, but not a huge increase. Plus, being tested at that time would have brought about fears of genetic discrimination by insurance companies, etc. At this point, I already have had breast cancer, so I am ALREADY at increased risk for getting another breast cancer no matter what. That's a 1% risk each year and it's additive, so it's a 10% risk in 10 yrs, 40% in the next 40 years. Pretty high by itself without adding the possibility of the BRCA gene mutation into the mix. Also, there are laws about discrimination now and the lab will not release the results to any insurance company.

At this point, having these results is probably only for my sister and my daughter. I've decided that I want a bilateral mastectomy and reconstruction for a myriad of reasons. I was originally just going to go with a lumpectomy and radiation bc the cancer was caught at such an early stage. I'm just not fond of the increased risk from age alone and I've already taken the watch and wait approach for this half of my life with regards to breast cancer. I'm being proactive with the second half.

Now, as for that cold. It's STILL here. :(