Genetic Testing - The Results

I had my follow up appointment last Friday with the MD and genetic counselor.  It was not too terrible a preamble before the verdict: the test came back Normal, meaning that no genetic mutations were found in my BRCA gene.  The doctor said the degree of accuracy is around 93%.

They explained that in light of this result, they reviewed a whole bunch of models and determined that my probability of having a breast cancer diagnosis in my lifetime is about 17.5% - slightly elevated due to the family history but factoring in the Normal BRCA gene.  The protocol in my case is to continue annual clinical exams and monthly self exams, plus step up the mammogram schedule so that I have them annually beginning now, rather than after age 40.

My statistical probability of having ovarian cancer is that of the average woman – about 1.5% - or perhaps a bit lower since I have been using birth control pills for many years.

And that was it.

Following is the cost breakdown.  Please note that this coverage may vary from plan to plan, and may be subject to proof of medical necessity.  You should do your own homework with your provider before pursuing these tests.

Initial appointment:

Retail cost was $278, BCBS negotiated down to $212.  Because I have met my out-of-pocket limit this year, it was 100% covered.

Lab #1:

Retail cost was $700.  BCBS negotiated to 639.57 and covered 100%.  Again, there is a protocol to determine “medical necessity” for my insurance plan and the doctor confirmed that I met the terms before we ran the test.  This lab picks up 90% of the mutations of the BRCA gene.  If this comes back Abnormal, they would not have run the second, more expensive, lab.

Lab #2:

Picks up much fewer mutations, but covers some territory that the first lab doesn’t.  It is also far more expensive: $3,340.00 retail.  BCBS negotiated it to $3,044.03 and covered at 100%.

I presume the cost of the follow up appointment will be no more than the cost of the initial appointment, but I don’t have the report back from my insurance company.  Which leads me to say something you don’t hear very often:

Thank you, to Blue Cross and Blue Shield of Illinois and my awesome employer for providing this coverage.  This issue has been a cloud hanging over my head for as long as I can remember and while this test is no guarantee of anything, I am controlling what I can control. And I feel much, much better now.