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 withbreast cancer.  I had been ponderinggenetic testing for a couple of years, and when my mother was diagnosed with anovarian mass (benign, thankfully), I was spooked enough to talk to mydoctor.  He gave me a referral to thegroup at NorthShore University Health and I made an appointment.
When I called, the lady who answered the phone said that shewould be sending me a questionnaire asking for health and family history so thedoctors would have the information in front of them in advance of myappointment.  She was very confident thatmy insurance would cover the initial appointment and explained that they wouldnot run any labs without confirmation that insurance is approved for them.
The questionnaire was pretty detailed – we hadto make some phone calls to fill in details. Caught up on some family gossip, I daresay.  But going through the process crystallized somethingthat I already felt in my gut.  Cancer isa Bastard that really likes my family.
When I arrived for the appointment, I first spoke with agenetic counselor.  She confirmed herunderstanding of the details I had written and started building it out in theform of a tree.  The breast cancerhistory was clearly the glaring scary thing on the page.  Then she explained the statistics on breastcancer (I hope I remember this correctly):
1.      The average woman has about a 12% chance of abreast 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 ovariancancer, 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 geneticand environmental factors that increase the breast cancer likelihood to 20% orso.

Apparently, my grandmother may have been part of a “cluster”rather than The Bad Gene.  The fact thattwo of the three were definitely past menopause at the age of diagnosis is..encouragingis a weird word, but whatever.
By the time the doctor came in to review, he gave me thiseasy math.  Even if my grandmother hadthe gene, there is only a 50/50 that my mother has it.  And in that event, there is only a 50/50 thatI have it.  That’s a 25% chance on apresumption that my grandmother had The Bad Gene.  The probability was small enough that he wasn’teven sure that my insurance would cover the labs.
Finally, they walked me through the test process – blood drawand follow up consultation.  Then theWhat ifs.  If the test is positive, myovaries have to go and a preventative double mastectomy may be in order.  I could see the counselor trying to determinewhether I would be traumatized. Not.  I am pretty open to all ofthe options.  If the test is negative, myrisk factor may still be high enough to step up the testing schedule formammograms 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.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

%d bloggers like this: