Pennington Punnetts

I definitely should have paid more attention in science class.  I do think, however, that I learned more about genetics in two hours yesterday than I did in my entire middle school, high school and college educations combined.  (Which isn’t hard, I guess, considering I ended up with a BA degree in Journalism.)  I remember being interested in those simple four block Punnett squares way back in Ms. Millen’s middle school science class.  You know the ones: Big A, little a, Big B, little b.  Hybrid. Probability.  Genotype.  Maternal.  Paternal.  If only I had paid more attention to the actual process rather than fantasizing about what color eyes my baby would have if I married “boy X.”

My crash course in genetics came yesterday after I received a call at school from the USC genetics lab in Columbia.

“Mrs. Pennington, I’m sure you’ve talked to Dr. Sweatman.”  I was sure I hadn’t since my visit Thursday, but I listened on. “As you know, he wants you to come in for genetic counseling and we need to do it today.   He wants it done today.”

“AS IN TODAY?” was all I could say.  “RIGHT NOW?”  I panicked as I immediately thought maybe the Oncotype DX results were in and weren’t conclusive or weren’t good.  I packed up and within twenty minutes or so Mel and I were headed back to Columbia for yet another day of testing.

I was completely wrong about the genetics counseling.  The geneticist that we worked with is actually on Dr. Sweatman’s “Boob Board” as we now refer to his team of experts which will meet tomorrow on my case.  She was a tall blonde, quite pleasant with an amazing accent that Mel finally nailed down as French Canadian and she was full of fascinating information.  (Mel guessed she was from Louisiana or France, having lived in the south just long enough to make those syllables linger.)  I’ll not go into all of the many specifics of our session.  I probably couldn’t decipher the notes she copied for me anyway.  But as usual, I’ll give my non-medical version as only I interpreted.

So in a nutshell…Dr. Sweatman asked that I have the BRCA genetics testing done.  We’ve had genetics counseling before at MUSC after learning of Mary Clare’s little half-heart.  It’s a “session” with a geneticist who chats away asking all sorts of questions about your family history and draws all kinds little symbols and squares.  Then, a blood sample is drawn and FedEx’ed away.  $10,000 later, you have paperwork with proof of what you already know.  Genetically, you’re a hot mess.

So back to BRCA…BRCA 1 and BRCA 2 are apart of a group of genes that suppress tumors.  Now here is where the punnett squares would have come in handy.  (You know, if I actually listened in Ms. Millen’s class.)  You receive two sets.  One set from Daddy-O and one set from Mom.  If I have a BRCA 1/BRCA 2 mutation, I’m at a much higher risk for breast and/or ovarian cancer.  (It’s gotta be from my Dad’s genes or Mom’s-someone passed it down, IF I have the mutation.)

So what does all of this mean?  Since this genetic testing tests “Me,” it gives us information regarding my personal well being, and of course, will impact how McCanless and Mary Clare go about their future healthcare.  Possibly earlier screenings, mammograms, etc.  (They, of course, would be tested once they are older.  Hopefully, they get Mel’s genes (for once) and NOT have the mutation, but if I have it, they have that 50% chance.  Remember, the punnett.)  Also, IF I do in fact have the crazy mutation, it may dramatically change the course of action in my current treatment. We would most likely take a much more aggressive approach.

What is the difference between the Oncotype and BRCA tests?  Both are genetic studies; however, Oncotype DX tests the biological activity of my specific tumor-the one living in me right now- and  the BRCA tests my genetics and my risk of developing breast and/or ovarian cancer at any point in my life-having to do with this tumor or not.  Oncotype DX=all about the tumor  BRCA=all about me

So right now, I’m waiting on two tests to come in:  Oncotype DX recurrence score, which was shipped to California last week (but has yet to make it to the lab) and takes 7-10 days to process once getting to the lab and now my BRCA gene information, which was shipped to the one and only lab in the US that tests for the BRCA mutation in Salt Lake City and also takes 7-10 days to process.  (After my insurance company approves it, that is.)

Obviously, my results will not be available in time for the “Boob Board” meeting tomorrow, so I imagine they will work out a plan for all possible outcomes.  At this point, I’m not banking on anything, just sitting tight before allowing my mind to settle on any one outcome/treatment.   Besides, I’m too busy with my girls and homework, dance class, and trying to get to school on time, dressed and in one piece everyday!  And the rodeo is this weekend!

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