Why I Chose Genetic Testing for BRCA1 and BRCA2 Mutations

This post is not medical advice. I am not a doctor or a geneticist. I don’t even play one on tv. If you have health questions, ask your healthcare provider. I am simply sharing why I chose genetic testing for BRCA1 and BRCA2 mutations. Your experience may vary. A great place to start if you’re unfamiliar with BRCA1 and BRCA2 is by visiting

Genetic testing isn’t something that I ever saw myself doing. I was a “what happens, happens” person and didn’t think it would ever be necessary. I never in a million years thought I’d be blogging about it.

After not one, not two, but three different doctors (on different occasions, without me bringing it up) looked at my family history asked me “Have you been screened for a BRCA mutation?”, I started to think that maybe it was worth looking into, especially now that we’re done having children.

I found myself contacting our local cancer research hospital, Roswell Park, to set up a genetics consult. I thought I’d call, make an appointment, and that would be it. Nope. Nope, nope, nope. First, you call to request an appointment. They take a brief family history and a ton of other information over the phone. That information was sent to the genetics department where they either approve or deny your request. This ensures every Joe Schmoe off the street isn’t wasting time getting consults for tests they don’t qualify for.

After my appointment was approved, I was sent a packet and had to call to confirm my appointment. I filled out a very detailed (VERY detailed) family history form and then I waited. And waited. I Dr. Googled everything I could think of. I wrote out a list of questions.

Finally, three months later, my appointment day arrived and after some more hoop-jumping at the hospital, I met with the genetics counselor. She was amazing. We went step-by-step through my family history, she asked and answered a ton of questions, and was completely honest and upfront about everything. In the end, her charting and statistics showed that, based on my family history, I do meet several benchmarks that warrant BRCA testing. I headed downstairs with my fancy genetics testing kit and had my blood drawn.

My Experience With BRCA 1 BRCA 2 Gene Mutation Testing

Now we wait again. First, we wait to make sure my insurance covers the test (it costs $2,200 without insurance). Second, we wait for the results, which should take 3-4 weeks.

One thing we took a lot of time discussing during my appointment was “well what happens next?”

Well, that depends.

If I test positive for the mutation, we’ll discuss one of three options. I’m laying them all out in basic terms, but they’re all not as black-and-white as I’m making them out to be. Certain outcomes will depend on if it’s a BRCA1 or BRCA2 mutation and any new medical insight the counselor can provide after my testing is complete.  The biggest takeaway here is a positive test for mutation of BRCA1 or BRCA2 IS NOT A DEATH SENTENCE. It does not guarantee you’ll get cancer and there are many women who live their entire lives cancer-free, even with a BRCA1 or BRCA2 mutation. This is not a test for the “breast cancer gene”. It’s a test for mutations of two specific genes, which we all have.

  1. Aggressive testing every 6 months in the hopes we’d catch any breast cancer early enough that treatment would be successful. The downside to this route is the heightened exposure to radiation. It can also be a quality of life issue as I’d constantly be worried about test results. Also, there are no preventative tests for ovarian cancer.
  2. Medication: A combination of Tamoxifen (used to lower the risk of breast cancer in patients with the gene mutations) and birth control (which has been shown to lower the risk of ovarian cancer.) Medications are not without side effects and I’d have to consider some quality of life issues here.
  3. Prophylactic measures: A mastectomy reduces the chances of breast cancer in patients with a mutation by up to 90%. It’s not perfect because it is impossible to remove 100% of the breast tissue. Removal of the ovaries would also be discussed, but not until I would be 35-40 years old in order to delay surgical menopause. Insurance will cover the mastectomy, but not reconstruction. To be honest, this is the route we’re leaning towards, but it would take many more weeks of discussion and research before I’d ever give the go-ahead on a major, life-changing surgery.

If I test negative for the mutation, it doesn’t mean I’m in the clear. There’s a distinct family history and cancer is funny in that it doesn’t always have a rhyme or reason when it strikes. We may have another hereditary mutation in my family that increases my chances. We just won’t know. Because of my family history, without the mutation figured in, the counselor estimates my chances at developing breast cancer at about 15-25%. The average rate is 10-12%. It doesn’t seem like a huge jump in numbers, and it’s not, but it does put me above the “normal risk” threshold, and therefore, we’d start my yearly mammograms and breast MRI’s now.

There is a third result, something called “a genetic variant of uncertain significance”. Bascially, they’d find a mutation, but not on the BRCA1 or BRCA2 genes. This result doesn’t give us an answer either way and only 10% of women receive this result. The mutation could be something completely normal, or it could be a risk factor, but because genetic testing is still new and constantly growing, we just wouldn’t be able to tell. My sample would be kept and marked, and if anything every was discovered in the future that involved that particular gene and mutation, they’d contact me. We’d act much in the way we would if my result is negative: testing and early detection.

I know this is a topic way out of the norm for this site. I get that. My hope with this post is someone else who is considering genetic testing for BRCA1 and BRCA2 will read it and feel more at ease about the process. In my non-medical opinion, knowledge is power. Even uncertain knowledge. I’m trying to be as proactive with my health as I can so I have a greater chance of sticking around longer. I am constantly amazed at the advances medicine is making today and, when the circumstances permit, I will always choose knowledge over wait-and-see. This is why I chose to have the testing done.

I’ll share my results when we get them, although I reserve the right to sit on the results for a while if some tough decisions need to be made.

For official information (and not second-hand babbling from someone who has mom brain and is not medically qualified to speak about things like this) on BRCA1 and BRCA2 mutations and testing, visit the National Cancer Institute and

For an update on my results and treatment plan, please click here

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  • Reply BRCA Testing Results and Next Steps - Fiddle Dee Me October 1, 2014 at 4:41 pm

    […] Today I received my results from my BRCA 1/2 testing. (You can read about why I chose to test for BRCA mutations here.) […]

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