Wednesday, April 25, 2012

Wherever you go, there you are

Biology, Psychology, and Social Work. These three disciplines love them a genogram. Which is why I've compiled no less than FOUR of them throughout my academic career. Most professors want to you cover at least three generations of your family to get good data. So when most students turned in a nice, neat 8.5 x 11 depicting their family tree, I'm the one walking in with a poster board.


My social work genogram from last semester. You'll notice that this is just parents and siblings.
Sorry aunts, uncles, cousins and grandparents - you didn't make the cut for this assignment.
Which is why, at my genetic counseling appointment today, it brought me great joy that someone else had to compile my genogram. Though I will say, she got off easy. This genogram only included blood relatives. Amateur stuff.

And then they made me swish with Scope.

So the purpose of meeting with a genetic counselor - aside from playing  a super fun game of find the weirdos in your family tree - is to determine whether I carry a genetic mutation that makes me more predisposed to develop breast and ovarian cancer than someone without the genetic mutation. <insert mutant joke here>

What they're looking for is something called BRCA. BRCA is gene that can hang out on chromosome #17 and can be an indicator of someone's likelihood to develop certain types of cancers. Both men and women can carry the BRCA gene, but even with it, breast cancer is still much less likely in men.

So right now you're thinking Um... isn't it a little late for that test? Good question! Getting tested for the BRCA gene will tell me two things: 1) how likely I am to develop cancer in the good boob [assuming the MRI and mammogram tomorrow confirms it's still good] and in my ovaries, and 2) how likely my blood relatives are to develop breast or ovarian cancer.

Here's the catch. Cancer and BRCA are not mutually exclusive. Meaning, you can have the BRCA gene and never develop breast or ovarian cancer. And... you can have breast cancer without having the BRCA gene.

What does it mean if I'm negative for BRCA? That my chances of getting another breast cancer, or ovarian cancer, are slim. If I'm postive? That other breast cancer risk increases to 60% greater than someone without the genetic mutation, and 13% for ovarian cancer.

Also, if positive, it means it's a good idea for both my parents to get tested to find out which one of them gave me the crummy gene.

So let's say, hypothetically, I test positive for BRCA. That means my mom has a 50/50 shot of being the one who passed it down. If she then gets tested and is, in fact, the culprit... I mean carrier... then both of my brothers and all of my maternal aunts and uncles also have a 50/50 shot at carrying the gene. If anyone of them also carries the BRCA gene then each of their children (my nieces and first cousins), too, have a 50/50 chance of carrying the gene mutation.

Remember that DOES NOT mean you have 50/50 odds of getting cancer. It means our gene pool may possibly contain a mutation that might give some of us an increased risk for possibly developing cancer throughout our life time. Or not. Hypothetically.

So there's your science lesson for the day. I'm paying stupid amounts of money so that I can be this smart for you all. You're welcome.

Happy Wednesday!


5 comments:

  1. I enjoy the idea of a good boob vs a bad boob.

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    1. Why have I not thought of this until now?

      The left one is officially nicknamed "The Evil Twin".

      This is going to make future med appointments so much simpler. Maybe I can draw devil horns on it and a halo or wings on the right one.

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    2. I think you should name Righty "Polyanna" or something since it is the good one. Devil horns and a halo are totally appropriate. I see sharpies in your future.

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  2. I remember seeing a horror movie once where a girl had demon boobs (NOT A PORN! It was a "B" movie, pardon the pun) Mausoleum, I think?
    You can draw a happy face and a sad face?
    Wait...you're my Sister! I meant you can draw faces on Robs boobs!!

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