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Keith Grimaldi
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Keith Grimaldi

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Personal genetics and regulations have been the subject of active debate for at least the last 10 years, since the first direct-to-consumer tests were sold in the UK by Sciona Inc. (CO, USA). Opinions...
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Keith Grimaldi

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Grazie Balotelli
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Keith Grimaldi

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Tweets from Daniel MacArthur https://plus.google.com/u/0/117075311027610918011

@dgmacarthur"genetic tests as effective, but not more effective, as family/personal history in assessing disease risk" http://t.co/G5SK009j

and

@dgmacarthur I find it astonishing that genetic testing, in its infancy, is ALREADY as good as family history. Still, cue negative headlines...
Yes

The headline is "Scripps Finds Genotyping No More Useful than Family, Personal History in Assessing Disease Risk"

Why negative? The glass is not even half-full, it is full! Genetics AS GOOD AS family history and traditional risk factors... but the article goes on to say:

"Based on these findings, Bloss and colleagues concluded that such genetic tests are as effective — but not more effective — as family and personal history in assessing disease risk, and that these services may be medically useful to consumers only when information about traditional disease risk factors, such as family history, is not available."

Why "useful only when"? Why should it be one or the other anyway?

Genetics = cheap, reliable, one off test, ready at birth
Family history = hard to assemble, imprecise and unreliable
Trad risk factors = already ill

So, let's wait until I have I risk factors before taking any action. thanks doc.

Interesting unadvertised fact about family history is that it has yet to be proven by clinical trial - so far it has performed quite badly. Yet it is strongly touted by those who urge people to ignore genetic testing until it has been proven by clinical trial. see the CDC blog and discussion

http://blogs.cdc.gov/genomics/2011/08/25/think-before-you-spit-do-personal-genomic-tests-improve-health/
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Keith Grimaldi

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Moreno Colaiacovo originally shared:
 
"Nutrigenomica e cibi protettivi. Sempre più nutrienti danno conferma della loro azione sulle cellule, sul dna delle cellule. Ora è la volta dei disturbi psichici, delle malattie mentali. Antiossidanti e depressione: il cibo della felicità. E in alcuni casi, come per i disturbi bipolari, anche con azione curativa."
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Nutrigenomica e cibi protettivi. Sempre più nutrienti danno conferma della loro azione sulle cellule, sul dna delle cellule. Ora è la volta dei disturbi psichici, delle malattie mentali. Antiossidanti...
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Keith Grimaldi

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Moreno Colaiacovo originally shared:
 
Vista la pessima situazione finanziaria in cui ci troviamo, voglio ricordare ai nostri governanti che se gli stipendi dei parlamentari fossero adeguati alla media europea si risparmierebbero più di 90mila euro per ogni parlamentare all'anno. In totale fanno 86 milioni di euro all'anno, che non copriranno il debito ma non sono neanche bruscolini. Lo dico perché, insomma, dobbiamo fare come fanno in Europa, no? Come per le pensioni.
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I parlamentari italiani: i più pagati d'Europa. Un grafico. Interessante grafico pubblicato dalla voce.info sugli stipendi dei parlamentari a livello europeo. C'è una evidente correlazione tra...
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Keith Grimaldi

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The real Mediterranean diet: What is it? Interesting "research" (conversation with my Neapolitan mother-in-law). Up until about 60 years ago (before white bread appeared on Naples streets in the hands of the USA & British soldiers) the diet was very basic. Yes plenty of fruit & veg, olive oil and wine. Not so much fish or meat and as for refined carbs, the bread was made with whole grain, and i mean WHOLE grain, it was hardly broken up at all. Cakes, cornetti, baba, gelato, etc were very very rare - special occasions only

This is not a new finding (!) but still the myth about what is a Med diet persists in many publications of various diet for health / weight loss trials - the "updated" version is a bit of a fantasy.

I think I will start a company making real Med foods, I'm not sure how well the teeth breaking bread will sell though...

Can anybody fill in any details about pre-war Med diets?
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Keith Grimaldi

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Was David Starkey’s appearance on Newsnight a “career ending performance”? It should have been, not for any rascism but for the absurdity of what he said. He’s a professional academic historian, presumably invited to offer some analysis on the riots, instead it was: Enoch was right, whites have become black, David Lammy is a good guy because he sounds white, young black girl is bad because she writes a semi-literate text (he had written it down and recited it, that’s proof then, innit?).

So maybe the problem is that white historians have become Telegraph or Daily Mail bloggers? Which is OK as long as you stay at home please:

http://tgr.ph/nSqy2y
http://tgr.ph/rhNexN

Starkey rascist? Who cares anyway. He was abusrd. He could have usefully isolated the disturbing aspects of some young black culture, and some white culture, or maybe best would have been to look at youth culture overall. He didn’t, he ranted, got loads of press but contributed nothing positive – the “debate” descended into uselessness.

On one thing he was sort of right, turning away from the screen it was amazing, he sounded just like an erudite Home Counties (South of England) white man, I would never have imagined that he came from the grubby North.

I think anyway that he was insulting the whites who absolutely do not need to “become black” to develop a nihilistic and violent culture, they are really good at it, really good, and could certainly teach them blacks a thing or two (which they often try to do)

http://en.wikipedia.org/wiki/Skinhead
http://bit.ly/r7TQeB
West Ham vs Millwall Hooligans 2009
http://bbc.in/nEPHSa
http://bit.ly/qiBN4I

Then there is some other black culture in the UK & USA, they are not all gangstas

http://bit.ly/qdVB1G
http://bit.ly/nSjP4y
http://blackvoices.co.uk/home
http://www.cc.gatech.edu/features/jovial-production (thanks @DivaBiotech)
http://www.math.buffalo.edu/mad/madgreatest.html
http://www.lcgc.org.uk/
http://bit.ly/r2BEvu
http://www.sunbailante.com/

OK I could go on cherry picking but you get the idea
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Keith Grimaldi

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Keith Grimaldi

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Moreno Colaiacovo originally shared:
 
Secondo me gli integratori vitaminici non sono una cosa così assurda. Siamo sicuri di poter assumere tutte le vitamine che ci servono con la sola alimentazione? Ci sono medici quotati come Filippo Ongaro che al contrario suggeriscono di prenderli, in virtù della nuova piramide del cibo basata sulla nutrigenomica.

http://www.oilsfats.org.nz/images/pyramid-willett.gif
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Keith Grimaldi

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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 INTEGRATIVE
Analysing 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 DECISIVE
Once 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.
Profilo aziendale. Personal Genomics è una Spin-Off dell'Università di Verona, dipartimento di Scienze e Medicina e opera all'interno del Centro di Genomica Funzionale dell'Università di V...
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This is a comment to the CDC personal genomic blog - they have a very slow moderator it seems, so am posting here before I lose it...

http://blogs.cdc.gov/genomics/2011/08/25/think-before-you-spit-do-personal-genomic-tests-improve-health/


The clinical utility of genetic tests alone for predicting common diseases is doubtful for the reasons you say (multiple genes and interactions with environment and behavior.)

The statement (implication?) that they “may do harm” is though pure speculation, as is the article that you link to. In fact you say “absence of evidence is not evidence of absence”. Nor is it the evidence of presence, it’s just a meaningless soundbite. By exactly the same criteria family history “may do harm”. Also the denial of access to DTC genetics “may do harm”. The harm issue was a reasonable question to speculate about when we started 10 years ago - now though speculation is no longer appropriate, just facts and evidence.

You say:

“A very informative and inexpensive “genomic test” is available to everyone right now: family health history”

“Family history also captures shared genetic, environmental and cultural disease risk factors.”

But is this correct?

1. As you say multiple genes are involved in common diseases – anywhere from 20-50 according to the GWAS studies. Common SNPs in many genes makes for a very complex pattern of inheritance from parents, let alone grand-parents.

2. As for non-genetic factor how much real sharing is there? I spent the first 20 years of my life in the same house as my parents. For most of those years my diet and lifestyle was very different – the immediate environment was mostly similar. But this overlooked a perhaps more important fact that my first 20 years were completely different in every aspect to the first 20 years of both my parents, and even more different to the early years of all my grandparents. Overall the proportion of relevant “shared genetic, environmental and cultural disease risk factors” is very small.

3. Elsewhere in a 2010 CDC publication you state “the utility of family history in public health has been poorly explored.” http://t.co/b1recHZ

4. A recent study in the May 2011 issue of Genetics in Medicine found that Family history by itself is not a strong predictor of exactly who will acquire colorectal cancer within 20 years http://t.co/ZG8jzjN

5. A recent much trumpeted conference presentation attempted to portray FH as the gold standard and demonstrate that it performed much better than genetic testing. But it did so only for highly penetrant hereditary cancers (which were not included in the DTC scan!). There was NO reported FH advantage for the common cancers, the rest of the 97% of colon cancers that is – see http://bit.ly/aJTuv8

In your article about harm you say that very rigorous testing is required to establish harm/benefit before they should be used, and this should even include multi-year (decade?) RCTs. The same surely should apply to family history.

If efforts to improve the use of genetics, its integration with FH and identifying where genetics maybe useful right now were the focus of this blog I think it would be more helpful. As the author of the FH vs DTC study above said if genetic tests were “used in concert with family health history assessments, those tests could become more effective and accurate”
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the blog post made some people angry! http://bit.ly/rtsgyP (Moreno Colaiacovo & Mary Mangan for example)
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