Monday, May 17, 2010

Potential of genomic medicine, LOST

I was reading and often read Mark Henderson of the Times

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.


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......


Anonymous said...

Steve, as you know, any good test comes pre-packaged with a good test interpreter, such as a board certified Internist who bothered to learn the fundamentals of clinical genetics, ideally board certified in that as well. Shortcuts don't work. All the talk of clinical utility and EGAPP is absolutely spot on, but we should never contemplate the worth of a test without considering the worth of the clinician wielding it.

Steve Murphy MD said...

Powerfully said. I have seen this many times.

1. A botched counselling session on BRCA leads to a patient receiving early colonoscopy

2. A botched Genetic Counseling session leads to a patient thinking Tamoxifen is free of side effects.

This is especially important. You have to have the right tool for the right job.

In the case of common adult diseases, not often encountered by CGC or Pediatric Geneticist, it is a tough call who that"interpreter" is.

No, an elder statesman who did an adult "internship" in 1972 is probably not equipped for today's adult medications and diseases, but is highly qualified to provide genetic explanation, just not disease treatment guidance.

So I agree, this one is a tough one to completely answer. But I know what the incorrect answer is: "The Internet"