Genetic Testing – The Results

I had my follow up appointment last Friday with the MD andgenetic counselor.  It was not tooterrible a preamble before the verdict: the test came back Normal, meaning thatno genetic mutations were found in my BRCA gene.  The doctor said the degree of accuracy isaround 93%.

They explained that in light of this result, they reviewed awhole bunch of models and determined that my probability of having a breastcancer diagnosis in my lifetime is about 17.5% – slightly elevated due to thefamily history but factoring in the Normal BRCA gene.  The protocol in my case is to continue annualclinical exams and monthly self exams, plus step up the mammogram schedule sothat I have them annually beginning now, rather than after age 40.
My statistical probability of having ovarian cancer is thatof the average woman – about 1.5% – or perhaps a bit lower since I have beenusing birth control pills for many years.
And that was it.

Following is the cost breakdown.  Please note that this coverage may vary fromplan to plan, and may be subject to proof of medical necessity.  You should do your own homework with yourprovider before pursuing these tests.
Initial appointment:
Retail cost was $278, BCBS negotiated down to $212.  Because I have met my out-of-pocket limitthis 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 “medicalnecessity” for my insurance plan and the doctor confirmed that I met the termsbefore we ran the test.  This lab picksup 90% of the mutations of the BRCA gene. If this comes back Abnormal, they would not have run the second, moreexpensive, lab.
Lab #2:

Picks up much fewer mutations, but covers some territorythat the first lab doesn’t.  It is alsofar 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 nomore than the cost of the initial appointment, but I don’t have the report backfrom my insurance company.  Which leadsme to say something you don’t hear very often:

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

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