Like I said........

If you have been following me at this blog for any amount of time, you know that I have been a careful watcher of these GWAS studies, and the testing companies who sprung up after them.


I have been skeptical of most of these studies unless they have had replication and fairly large Odds Ratios or Relative Risks........why? We are looking for clinical relevance and asking what can we do with this to better our patients lives........

Personalized medicine relies on several things but these 3 are absolutely needed: Prediction, Prevention and Privacy. It is rich in fields like Cancer Genetics, PGx, Preconception Genetics.

You see Personalized medicine is not just Prediction, which these DTC companies are touting, it is therapies and action......which, these tests unfortunately are lacking in.....


Unlike Pharmacogenomics....

To put it bluntly.....based on our current knowledge of what these SNPs are and what they do,

Consumer Genomic Testing is of:

Extremely Limited Clinical Value


We saw this with 9p21.3 one of the most significant findings in this arena.


Yesterday an article was released in PLOS which I just linked to which states that case pretty effectively.

I often say, that once a discovery is made of a gene or SNP or etc.....it will require at minimum 5 years to come to clinical utility.....So how could any company sell something prior to this under the auspices of medicine???


The conclusion from the PLOS paper:


Our analyses and examples show that strong association, although very valuable for establishing etiological hypotheses, does not guarantee effective discrimination between cases and controls. The scientific community should be cautious to avoid overstating the value of association findings in terms of personalized medicine before their time.


Association is NOT causation, nor is it actionable.......


Most of this small time SNP data comes through in guess what????


Family History!!!!! (five exclamation points for Daniel)


The Sherpa Says: Family History is FREE!!!! And Soon SNP testing will be too.