Thursday, July 19, 2007

Genomic Associations and Your Heart

Congratulations! You're the proud owner of chromosome 9p21.3!

What does this mean? It seems it means that you have better-than-even odds you'll get coronary artery disease!

Gee, thanks.

This week's New England Journal of Medicine discusses the use of the inverse solution of sorts that was used to determine which loci on the human genome are likely to be determinants for coronary artery disease. Now I'm no genome nerd, but I guess this is important. But how will John Q. Public apply this information? Will you want to know? It's probably too early to know what this means to the average doctor or patient today.

But there are some interesting potential implications of this new work. The prevelance of coronary artery disease is SO prevelant - millions and millions of dollars are spent on lipid lowering therapies and dietary prevention measures - will your DNA dictate to whom we should guide therapy? What mutations of this gene lead to peripheral versus coronary arterial disease?

Such questions are just the tip of the iceberg. As noted in the accompanying editorial:
The onus now lies on researchers to explain how variation in the function of these genes leads to clinical disease. The results of such genomewide studies tell us that a particular gene is important in the pathogenesis of a given condition, but they do not tell us the mechanism that is responsible. Once we achieve this understanding, which will not be easy, we should have the keys that will lead us to eventual improvements in patient care.
It used to be that we were concerned about issues from the cell to bedside. Now it looks like we'll soon have to understand the implications of one's DNA as it applies to the bedside.


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