Potential of genomic medicine, LOST

I was reading and often read Mark Henderson of the Times

The piece I just read about the "Potential of genomic medicine could be lost, say science think-tanks"

The piece basically comes down to one conclusion.

We have no proof that most of this stuff is useful in any form.

This is something that I have been shouting from the roof tops ever since some self deluded socialite from Mountain View decided to say "Genetic testing is for fun"

Seriously DTCG. You knew this day was coming. You tried to play yourself off as hip, cool, sexy/ Yet at the same time to avoid regulation you played, not serious, not clinical, and in essence, not valuable.

I was deeply concerned about precisely this issue. By putting yourselves out there as an invalid in the clinical world, you cheapened the field and some of the tests that you offered.

Because of this conglomeration of useless with useful, the field of medicine and healthcare as a whole needs to create systems to sift between marketing and PR spin/hype from truth and medical utility.

Luckily in the US we have such a system EGAPP. We also have things such as the CPMC ICOB. But in England, they have no such official system.

What is even more troublesome is the lack of clinical utility of such tests and lack of funding to evaluate the utility. The problem with this rush to market the next GWAS is emblematic of this over hype cycle that exists in medical science.

Why?

Medical scientific discovery can or cannot be useful in medicine.

That is all.

Saying something promotes "Health" rather than treats,cures, prevents or diagnoses disease to avoid regulation confuses the public and unsophisticated venture capital. Which really makes me wonder if that is what you had intended in the first place........

What should have been said is "These tests have not been proven to prevent/diagnose/treat disease nor have they been proven to aid in healthcare"

But that probably wouldn't have sold many kits......Thus the problem with medicine, you can't just "fake it" with Time Magazine.......

What your "faking it" has done is created a hornets nest on both sides of the pond with governments scrambling to decide what matters.

"Caroline Wright, head of science at the PHG Foundation, said: “The heart of the problem is that we do not have enough data on whether these tests actually help patient care. We desperately need the equivalent of clinical trials for diagnostics."

Further, the UK doesn't have a team equivalent to EGAPP over here. Which BTW, K.O. if you are listening, I would love to be a part of..."I'm just saying......"

We need to ask ourselves as Andrew Yates points out, what results can we expect when the average death percentage over time in this country or any others is 100%

Will a flashy test keep you alive longer? Not if it has no clinical data proving that it does.

No amount of blimps and SoHo parties will prevent death or disease. Sorry.

The Sherpa Says: The Quake paper was their best shot of integrating this into clinical care and they are arguing about whether or not to put him on a prophylactic statin? Which BTW has no evidence behind it........Personally I think that shot was misfired......

Not Again OMG UK!

In another amazing step towards eugenics. Britain has awarded a couple the right to prenatal test for familial hypercholesterolemia. This way they can then terminate a pregnancy that may results in a child plagued with the disease of high cholesterol and heart attacks. In the Times

FH occurs in two forms. The more common version, heterozygous FH, affects 1 in 500 people. It is caused by a single mutated gene, which raises cholesterol and thus the risk of hardened arteries, heart disease and stroke. It can usually be managed with statin drugs and diet.

Britain’s first licence to test embryos for FH will be awarded next week to Paul Serhal, of University College Hospital in London, by the Human Fertilisation and Embryology Authority (HFEA).
Its decision breaks new ground because it permits Mr Serhal to screen out not only the severe form of the condition but also the milder type, which is usually treatable.

In addition this brings the thought of pre-implantation genetic diagnosis (PGD) for the disease. I know many people who are heterozygous for this disease. I treat them with cholesterol medications. Do I tell them they could have PGD? No. Do I tell them that their children will be at risk for heart disease? Absolutely. Is this a treatable condition? You bet. Can it be devastating? Yes. Does that mean we should PGD every gene you may not want? Hmmm this sounds familiar.

So where do we go from here? Gattaca.

Well, this certainly is a slippery slope. Let me know your opinion. This Times readers opinion says is very nicely

Lucky for us that the parents of (Agatha Christie - Alfred Lord Tennyson - Algernon Charles Swinbunre - Blaise Pascal- Charles Dickens Dante - Edgar Allen Poe - Edward Lear - Fyodor Dostoyevsky - Gustave Flaubert - Guy de Maupassant Lewis Carrol - Lord Byron - Professor Manning Clarke - Pythagoras (Philosopher & Mathematician) Sir Walter Scott - Socrates - Truman Capote) weren't tested for Epilepsy. Our world would be a much less interesting place.
Martha Ware, Hammonton,NJ, NJ/USA

-Steve