New company - http://www.personalgenomics.it
There are lots of doubtful statements in their Italian downloadable brochure – here are some:
• THE MI RISK KIT IS “ONE SHOT”The MI Risk kit is a single test that will last a lifetime
No it isn’t, as new SNPs are discovered, new analyses will be needed - as seen with 23andme who recently upgraded their service adding a lot more SNPs
• THE MI RISK KIT IS INTEGRATIVEAnalysing blood cholesterol levels is not enough to predict probable cardiovascular disease problems. The factors that predispose to the disease are multiple and diverse. In that sense the MI Risk kit give a more accurate and complete vision of the subjects risk because intrinsic to the test is the evaluation of the diverse genetic variables. The MI Risk kit is offered on the market as a complete analysis tool for the diagnosis of cardiovascular problems
Wow they are proposing just genetics as DIAGNOSTIC (it is not and never can be) and as actually better than clinical risk factors (no evidence for this, on the contrary).
• THE MI RISK KIT IS DECISIVEOnce the test has been done the precision of the personal risk exposure can be perfectly calculated. Based on a mathematic equation that takes into account the interaction between the genetic variants (SNPs) and traditional risk factors the predispositizione to myocardial infarct is ascertained and quantified
They are using GWAS SNPs – most of the GWAS SNPs are markers and are not functional, there is no way of calculating the interaction between the genes and traditional risk factors. Also in another part of the brochure they say that many of the SNPs are associated with unknown mechanisms – and this is a good thing they say, it means that they are not involved with traditional risk factors so the genetic risk must therefore be additive – they want it both ways.
It is proudly announced as a spin off of the University of Verona. This is quite common, I’ve seen several similar companies announcing themselves as university spinoffs, as if that gives some guarantee of credibility and seriousness.
Sadly the state of Italian universities is not what it used to be. There are a few heroic souls who get good output by sheer blood sweat and many tears, the rest of the good researchers need to (and do) go abroad to get a carreer. Unfortunately almost all the university jobs are occupied by the “raccomandati”.
This plus the chaotic research grant system is the direct cause of two starkly opposing facts:
1. The oldest university in the world is the University of Bologna. Of the 20 oldest universities in the world, 11 of them are Italian (http://en.wikipedia.org/wiki/List_of_oldest_universities_in_continuous_operation
2. Despite all that practice at being universities – in the world rankings, in the top 200, only one is Italian, right up there at No. 183 (Bologna) http://www.topuniversities.com/university-rankings/world-university-rankings
Anyway, back to personalgenomics.it
It seems that there main product is myocardial infarction risk the MI Risk Kit. It measures some SNPs that have been identified by GWAS, i.e. just like a sub- sub-section of what 23andme gives you for $99 (plus sub). There is no list of SNPs (only 9p21 is mentioned), no price, no bibliography, no risk calculation method and no sample report.
The clinical utility of these GWAS SNP only panels has been debated elsewhere, many many times – most agree that a % risk score from a panel of SNPs is not clinically very useful for the majority. There can and is a lot of personal interest, the information IS useful from an educational point of view and if an individual reads about his/her own SNPs, reads about genetics and common complex diseases (especially that while genetic variation has an effect the actual individual risk depends on many environmental variables as well).
So while most doubt clinical utility many agree on personal utility. Putting an MI Risk Kit could be OK (although given the presence of 23andme doing so much more for a tiny price it does not seem like a promising business), it all depends on the claims. This is where PersonalGenetics.it falls down, heavily.