1. Genetic Medicine
  2. 9p21…..ahem. Paynter et.al. Smackdown. Again.

9p21…..ahem. Paynter et.al. Smackdown. Again.

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Yeah, yeah, yeah........common variants don't work for heart disease.......We got it.


Rare variants matter more........


But the SNP data on 9p21 and others in this recent Nina Paynter paper are correct......

What we have here is a study on 101 SNPs and the association with heart disease followed OVER 12 years. This is precisely what I have been asking for from the dawn of these DTC SNP companies. I remember when all the wonks kept saying, well, we know just ONE snp is not that important as a predictor, but when we have panels of 100 SNPs, we will have the best predictive tools out there.......

In fact, deCode bet their livelihood on it as a diagnostics company.....This has to be the winning strategy, right?

Wrong.

That is the assessment of the current state from this Paynter paper, which IMHO was well written and was a likely outcome after the paper Paynter published in May 2009 which said that when you add 9p21 SNPs to current risk stratification models it added essentially nothing.


We have such robust models for assessing CVD risk, why not focus on things we do not have tools for assessing.

Every day we take family histories of all of our patients. We have hundreds of pedigrees. Non statistically I can tell you, if your parents were fat, had HTN, had AD, etc....there is an increased likelihood of your risk.......REGARDLESS of what some SNP scan says.

If you really want to make this tool useful, then use it for something useful and quit trying to make it fit in every hole!

The Sherpa Says: Face it, to get real personalized medicine we need pedigree studies. Tons and Tons of pedigree studies with candidate rare variants. And a set of "normals"
That costs big money, I get it. Now do you Francis?
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  1. Genetic Medicine
  2. 9p21…..ahem. Paynter et.al. Smackdown. Again.