Friday, November 2, 2012

Interesting Thoughts Born Of A Conference

Now that I’ve been sitting in the wake of the awesome genetic counseling conference my class attended last week, I have composed a list of some interesting things I noticed and/or enjoyed about the lectures and lovely bunch of GCs I spent time with.

1) There is always more to learn.  I sat in on innumerable talks about non-invasive prenatal testing (NIPT) and pan-ethnic carrier screening and epilepsy gene test panels and was still learning every minute I listened.  One of the coolest things I picked up: PCDH19.  This gene is located on the X chromosome and mutations in it can cause epilepsy among other things like developmental delay and/or autism.  Typically when we see diseases carried on the X chromosome, females (who have two Xs) are the unaffected gender because they have a backup copy while males (who only have one X) are the ones affected with whatever symptoms you would expect of the disease.  Now PCDH19 is the opposite!  How crazy.  The males with mutations in PCDH19 are unaffected while the females with two copies of the gene are affected with the symptoms I told you about just a second ago.  Some people think the reason for this is that in girls the normal copy and the mutated copy each make a separate population of cells that conflict with each other and cause issues in the brain.  Males, who only have the one copy, even if it is mutated, develop a single population of cells so there is no conflict.  This technically hasn’t been proven necessarily, but it is sure an interesting idea.


2) The diet choices goes first, every time.  I giggled each time the event caterers set out a soda/pop station in the exhibitor’s hall.  There were equal numbers of Sprite, Pepsi, Diet Pepsi, and Dr. Pepper.  Within a good five minutes, all the diet cans were gone.  I mean every single one at every single soda/pop station.

There were so many of the other cans left.  You think they would figure it out and adjust the numbers but no, each time they set out equal numbers.  I guess we genetic counselors like to watch out figures…

3) …unless there are danishes and bagels.  I’m fairly sure each of us ate our weight times four in little danishes and cinnamon rolls and everything bagels.  There is something about baked goods that causes everyone to throw caution to the wind, repeatedly.

4) There are politics no matter where you go, no matter what the institution.  Its easy not to see the strain in an organization when you’re all on the outskirts, out in practice, in the clinic.  However, when you get everybody (or most everyone) together in the same place and you start pushing on some hot-button issues like carrier screening (basically screening individuals or couples for a huge host of autosomal recessive disorders so that if they are both carriers of the same disease, they can make their reproductive choices in full light of that knowledge) some sparks fly.  It was very intriguing to see people up in arms about their beliefs and their practices.  It’s true, you’ll always have people around you or at least in the same organization that don’t feel the same as you do.  We can get pretty wrapped up in our own minds, our own thoughts, that we forget there are potentially valid reasons for someone to feel the opposite.  It was a nice reminder, I’d say.

5) Genetic testing companies are just like any other pharma company or salesman.  There was more swag, goodies, giveaways, and massages than we all knew what to do with.  Sadly, the whole thing is a sales-pitch.  Plain and simple, companies make money if you send tests to them.  Therefore, they need to persuade you to use them.  I sincerely hope that every genetic counselor does his or her research before choosing a company though.  There are definitely pros and cons to each.  With that being said I admit I enjoyed the massage...


6) I met my first in-person blog fan! So this one is a bit self-ish and not so intellectual or humorous but I was really, really excited!  I know I have friends who read this baby and I am eternally grateful for them and for all of you whom I have never met but I was so flattered to hear the following exchange:

“You write that blog right?!”
”Yea, I do. Wow, you read it?”
”Yes!  Oh my gosh, I love it.  I like food and genetic counseling too!”

The DNA and Dessert fan was another genetic counseling student so it was such a cute, small world, moment.  I was honored and I might have smiled non-stop for a good fifteen minutes.  You can’t tell me you wouldn’t have too!

So there you have it, some thoughts, facts, and humorous impressions.  I hope that you giggled, learned something, or both.  It was fun to write and recollect.  Now I’m off to see Green River Ordinance in concert again since last time was so awesome.  They scheduled an impromptu show tonight at a downtown lounge.  I think Mary will be coming too so it’s bound to be a great night.  I’ll leave you with some recent eats including a tempeh butternut bake (on a bed of buttered brussel sprouts) and a goat cheese, almond butter, cherry jelly sandwich.  Catch you later.

photo (3)photo (4)photo (5)photo (6)

Questions: What’s your favorite type of danish?
Do you think you’d want to know if you and your partner carried
the same recessive disease before having children?


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