Monday, December 1, 2008

4 Days and Crazy $h!t Happens

Did you ever notice how everyone drops out at Thanksgiving, leading to a 4 day weekend? I did, and I dropped out......a little. But I did keep my ear to the ground and found some interesting news I want to share with my wonderful readers!

1. JAMA publishes an article which says, poor glucose control in diabetics puts you at risk for heart disease.....but if you have a 9p21 genetic polymorphism it REALLY puts you at risk....Ok, so what does that mean? Well, they studied patients who had cardiac catheterizations. In those who had 50% or greater blockage of a vessel, you were 4 times more likely to have poor diabetic control AND 9p21 polymorphisms. If you just had poorly controlled diabetes......2 times more likely. What is the clinical take away? Is it ok to have poorly controlled diabetes if you don't have 9p21 polymorphisms? what difference does it make if you have this risk??? Well, maybe psychologically it will help them control their diabetes. But not if they have the "I like boston creme's from Dunkin Donuts" gene....

2. NEJM was loaded with genetics articles including Gene Signatures in B Cell Lymphomas.....but the best was the report on Speech delay and CNTNAP2....not that exciting for my personalized medicine readers, but tremendously useful for my autism contingent. It turns out this speech delay region is linked to Autism as well. Hopefully, the children geneticists see with autism or speech delay will have a new test to help diagnose these difficult conditions. More importantly, this is a step in the right direction to understand the biological underpinnings of speech delay, a very common condition.
3. We saw just how cruel the world can be. My heart goes out to all in Mumbai whose lives perished at the hands of the Terrorists. I was in NY when those bastards hit NYC.
4. And we saw how silly and self indulgent the world can be with this NYT article on gene testing your kids for sport prowess. I said I wasn't going to comment on this because it is not medically related, so my stance is, buyer beware, rather than outlaw foolish diagnostic tests....But when you are encouraged to start taking DNA samples from your 8 year old....I have to say that this is the most outlandish use of this technology I have ever seen.
It makes 23andMe look like saints. Daniel MacArthur a researcher who published on the topic was pretty convincing.....this test is B.S. Want a good genetic test for sports.....test for hypertrophic cardiomyopathy or Burgada Syndrome and actually save lives! Why? Well, you could pick up risk for sudden cardiac death and prevent it! Rather than predict variation in about 2-5% of have to be putting me on that this crap shows up in the NYT!
Yes, it certainly was a busy 4 days......
The Sherpa Says:
Ahhh yes, the US leads the world in Vanity and Tom-Foolery.....why would it be any different in the world of genetics???? Danger lurks behind vanity.....Narcissus

1 comment:

Anonymous said...

Testing athletes for conditions that could put them at risk for suddent cardiac death is something that I want to do after I get my degree.

Great minds think alike!!!!! Would the NCAA approve this type of testing? I would also love to test athletes for specific genes that have been shown to affect the outcome of their workout programs, genes that show if a person has fast twitch fibers or slow twitch fibers and so forth...this way they can get more out of their training.