Friday, November 4, 2011

Genetic Testing - Preamble and First Appointment

I am pursuing genetic testing to determine my risk for breast and ovarian cancer.  Every person that I have told has had a hundred questions, so I thought it worth writing:

It starts with my grandmother - the first of three sisters diagnosed with breast cancer.  I had been pondering genetic testing for a couple of years, and when my mother was diagnosed with an ovarian mass (benign, thankfully), I was spooked enough to talk to my doctor.  He gave me a referral to the group at NorthShore University Health and I made an appointment.
When I called, the lady who answered the phone said that she would be sending me a questionnaire asking for health and family history so the doctors would have the information in front of them in advance of my appointment.  She was very confident that my insurance would cover the initial appointment and explained that they would not run any labs without confirmation that insurance is approved for them.
The questionnaire was pretty detailed – we had to make some phone calls to fill in details.  Caught up on some family gossip, I daresay.  But going through the process crystallized something that I already felt in my gut.  Cancer is a Bastard that really likes my family.
When I arrived for the appointment, I first spoke with a genetic counselor.  She confirmed her understanding of the details I had written and started building it out in the form of a tree.  The breast cancer history was clearly the glaring scary thing on the page.  Then she explained the statistics on breast cancer (I hope I remember this correctly):
1.       The average woman has about a 12% chance of a breast cancer diagnosis at some point in her life.

2.       A woman with The Bad Gene has a 60 – 85% chance.  And a 30% chance of developing ovarian cancer, which is utterly terrifying.

3.       There is a third group that they are calling “clusters” in a family that has not The Bad Gene, but some combination of other genetic and environmental factors that increase the breast cancer likelihood to 20% or so.

Apparently, my grandmother may have been part of a “cluster” rather than The Bad Gene.  The fact that two of the three were definitely past menopause at the age of diagnosis is..encouraging is a weird word, but whatever.
By the time the doctor came in to review, he gave me this easy math.  Even if my grandmother had the gene, there is only a 50/50 that my mother has it.  And in that event, there is only a 50/50 that I have it.  That’s a 25% chance on a presumption that my grandmother had The Bad Gene.  The probability was small enough that he wasn’t even sure that my insurance would cover the labs.
Finally, they walked me through the test process – blood draw and follow up consultation.  Then the What ifs.  If the test is positive, my ovaries have to go and a preventative double mastectomy may be in order.  I could see the counselor trying to determine whether I would be traumatized.  Not.  I am pretty open to all of the options.  If the test is negative, my risk factor may still be high enough to step up the testing schedule for mammograms and perhaps even the MRI.  They asked me if I still wanted to pursue the tests.
I had my blood drawn and made a follow up appointment.

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