BRCA Genetic Testing

Back when I had met the oncologist for the first time in early January, Dr Dougherty had told me that one part of my cancer intriqued him. He told me that I had a 67 year old's cancer in a 37 year old's body.  As I read more about Invasive Ductal Carcinoma, I did in fact read that it is most common in women over 50. Dougherty thought this would be explained if I had a genetic history of breast cancer in my family, or any cancer for that matter, but since I didn't have evidence of that, he ordered a genetic test.

When he said "genetic testing" I was hoping to learn that my real parents were Bill & Melinda Gates or that I had some mutated gene that made me awesome. I had no idea what they were really looking for.

BRCA1 and BRCA2 Mutations

As it turns out, in this case "genetic testing" meant that the doctors were going to take a DNA sample to find if I had a mutation of the BRCA1 or BRCA2 gene.  The BRCA genes are part of everyone's DNA and their purpose is to supress the growth of tumors in the body. If the BRCA1 or BRCA2 gene is mutated, tumors can grow much more aggressively in the body.  You would think that having this mutation would make someone much more prone to any kind of tumorous cancer or cysts but studies have linked this mutation specifically to breast cancer (in women and men) and ovarian cancer. 

If the genetic test showed that I had this mutation, not only would I be at risk for aggressive growth of the tumors I had already, but I had almost a 60% chance of contracting ovarian cancer in the future. In fact, Dougherty said that if I did test positive for this mutation, he would recommmend having my ovaries removed proactively. That was pretty scary. And it got worse. Not only would I have been destined to a cancerous life, there was a 50% chance I would pass this on to my kids and then they would also be at high risk for early-life breast cancer (prior to age 50) and ovarian cancers. Having this mutation would be a very bad thing, but it would also explain where the heck this cancer came from.

The BRCA Test

In order for the doctors to administer the BRCA genetic test, they needed prior authorization from my health insurance.  Apparently they don't authorize payment for this test unless it is deemed medically necessary (please tell me why knowing this information wouldn't be medically necessary for anyone????)  By medically necessary, they mean you must either (a) have a parent or sibling who tested positive for the BRCA mutation or (b) have unexplained early onset cancer (that's me). It took about 2 weeks to get the medical clearance from Blue Cross, but I finally got the appointment to get 'er done.

I figured this test would be a simple blood draw or cheek swab (I see that on Law and Order all the time) but instead it was kind of weird. To administer this test, I had to refrain from any food, water, smoke, or anything in my mouth for 1 hour prior to the test. When I got to the doctor's office, I had to swish a mouthful of Scope for 30 seconds and spit it into a test tube. I had to do this 2 times so they could get 2 samples. And that was it. Easiest test I ever took! (Except the PET scan a few weeks before when I got to lay in a dark room with relaxing music and warm sheets. That was the easiest test I had to take.)

The Results

OK, so very few things really pissed me off during this entire cancer ordeal. This was one of them. Apparently, per HIPAA, doctors cannot give results over the phone. Ironically just a few weeks before my ob/gyn called me at work at 11am on a Monday and said "How are you today? I am calling to tell you that you have cancer."  However, this stupid genetic test could not be conveyed over the phone legally.  Because of this, I waited 10 days for the results to come in and then when the doctor got the results, they had to schedule an office visit for me to get the results.  I was administered the test by Dr Lindfield's office (breast specialist) but it was originally ordered by Dr. Dougherty (oncologist) so I made sure that the results were copied to Dougherty's office.  I tried to skirt this whole office visit thing by calling Dougherty's office to get the results over the phone. They said they would get them and call me right back. They called me back and said Dr Lindfield's office wouldn't give the results to them over the phone until I came into the office to receive them personally. #1 - I hate you. I am so office visited out. I have work to do and things to get done. #2 - Dr Lindfield's office better not charge me a copay for this. I paid the copay to take the test, I shouldn't have to pay the copay to receive the test results. On top of it all, Lindfield is a specialist so the copay is double that of a primary care doctor.

Lindfield's office called me Thursday and made an appointment for me to come in for my results the next Monday at 3. I arrived 5 minutes to 3 and those <enter profanities here> made me pay a copay.  I feel so bad for the woman behind the counter just trying to do her job because I spewed attitude all over that counter. The eye rolling, the sarcastic remarks about it being a stupid test that I don't even care about, the flaring nostrils... Insurance fraud is what that is. This is part of what is wrong with our health care system.... and that is my political statement for the day.

So I sat in an empty patient room waiting for my results for a half hour. Then the nurse came in, gave me a pamphlet explaining BRCA results, and then told me I did not test positive for the mutation.

Yay? So I am fine and not destined to an ovary-free life of cancer and my kids are pretty safe too. This is good. I won't offend you with all the bad things I had to say about this whole bulls--t process and how much it costed me.  Granted it was only $80 ($40 x 2), but my time is worth something too, and with all the doctors appoinments I have had, I am going broke quickly. I'd like to show that nurse what I think of her BRCA tests...