Consumer Genomics Spin

Thank God for Dan Vorhaus AKA @GenomicsLawyer on Twitter and a nice wrap up by Emily Singer

But like a groupie believing everything one reads, I want to caution those who attend that conference.

I heard major exaggerations and one might even say misstatements from the people presenting.......

The biggest one upset me. I am a fan of Jeff Gulcher's. I think he is a great guy. And his 1 in 100,000 story about finding aggressive prostate ca because of his SNP risk is very real. But, he claimed something which had been proven incorrect.

It had been proven incorrect months ago...... Maybe he did what DTC does best.....they imply things...... Jeff implied that their SNPs for CVD actually reclassify women's risk......

In order to prove that he would need a cohort and he would have to control for all other things AND he would have to have been studying this cohort for about 20 years.....which to my recollection has not happened with deCode.....

More importantly, the SNP they discovered was not found to add ANYTHING useful to the current classification system for risk of heart attack....

However, there is something which reclassifies approximately 40% of women and 17-20 percent of men......the Reynolds Risk Score, studied by Paul Ridker et.al. up at Harvard....

In this great example, clinical risk factors are combined with genetic factors, in this case Family History and it outperforms Framingham Risk Stratification........

But to state that their tests perform the same or even to insinuate this, well, that's just intellectually dishonest and I wouldn't expect that from Jeff......which means he "must have been mistaken"


So today I look forward for more exaggeration at CGS as I call in to the ICOB meeting for the Coriell Personalized Medicine Collaborative......I implore others to follow Dan @genomicslawyer and look for the same.

The Sherpa Says: We must always listen with a critical ear to what is said by people with money or power or both......

Wolfram Alpha destroys 23andMe's Strategic Advantage?

One of the good things that I thought existed with 23andMe is that they have a nice agnostic platform which aggregates information on certain SNPs, similar but not the same as SNPedia........Let's face it, any knuckle head can do the social networking. But the hard work was the data aggregation......

Either way, what I like about SNPedia and Prometheus is it is sort of free......

You do have to dump some data into it......As opposed to paying 399 USD to have access to it and your Million SNPs.

But now I have seen the death of these sorts of company models......

Really? How?

Something called Wolfram Alpha....

You can watch it being brought on line Today Friday the 15th

You can watch the screencast into as well....Very simple, semantic web stuff.

But what is amazing is the possibility of "Wolframming" a Gene or a lab test or a SNP......

What was cool about 23andMe is that you can get the studies of each SNP.....but in this case imagine, getting the SNP, all the studies and perhaps some links to commentary regarding this.

Wolfram Alpha will be able to do this. Why? EnSembl, PubMed, et cetera.....

So what was a cool database that a company may have built will become nothing compared to what is already in the public knowledge base from the government. This is the Killer App for a whole host of businesses........Including Bloomberg Terminals.........

This system is very scary.......and very exciting all at once.....

The Sherpa Says: Personalized Medicine just got more personal with the potential of using Wolfram Alpha to run a Reynolds Risk and tell you how your diet can improve your risk.......