Friday, May 4, 2007

DNA mutation....Not so fast my friend.

Today results were released from a Genome Wide Association Study. This revolutionary type of research does promise to bring us closer to true personalized medicine. That being said........
The study published in Science today by DeCode and several academic institutions (U Penn, Duke, Emory) shows that a loci on Chromosome 9 (long arm) 21 has been linked to an increased risk of heart attack. This study was almost simultaneously replicated by Dr McPherson in Canada at the Ottawa Heart Institute. The study links are not up yet. I will post the abstracts when they are. This is exciting news, however.

  1. This is just in a block of genome, not a gene per se
  2. The risk with this polymorphism is 1.6-2 fold
  3. In Scheuner's analysis of family history, the risk with one afflicted sibling is approximately 2.8 fold
  4. As my good friend Dr Lei at Eye on DNA suggests, this will not change the way we practice medicine....yet. First we need to start teaching doctors how to take a family history, then we can move to QTLs and genotyping.

I hate to be the lead balloon but,

The Gene Sherpa Says: While interesting and it should help discover further causes of heart attack this DNA "test" is not even close to ready for prime time!

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