Thursday, June 11, 2009

OK Guys, Seriously.......

What I loved about the second day of CGS coverage was that Dan now had some partners covering some of the space, heck I even saw twitter messages straight from Illumina.....

I want you all to listen to some very important statements. Francis Collins had his genome sequenced under an alias by 23andMe, deCode Me, and Navigenics - tells them here at Consumer Genetics Show - He says

1. S
ubstantial differences exist in info revealed (carrier, non-medical, ancestry); not clear which markers are tested

Interpretations sometimes vary, even with the same data; exhorts DTC companies to collaborate on this.

Parents willing to pay nearly $2K for cord blood banking are unlikely to be daunted by cost of genome sequencing as it falls.

So here's the take home. When you get a cholesterol test, don't you want to have a uniform explanation and values? The same is true for genomes. This is why it is so damn hard to run a bread and butter lab.

You have to compete on different things......Insurance preference (Which often involves undercutting your costs), Turn Around Time, Integration into MDs work flow......

By exhorting DTC to have "Uniform" explanations he ultimately spells what will likely be the case for this big conglomeration of a company doing genome sequencing OR 5 mega companies, all competing on turn around time, Insurance preference, and MD preference........

This is fairly evident by the move made by Illumina.....where
1. ONE Company does Sequencing

2. 5 companies do interpretation
3. 1 company does the medical care

Do you see where I am headed? DTC genomic companies in the current form are doomed, unless it finds a way to adapt.

I told Dietrich Stephan that a way back and his investors rebuffed......Well, I am doing it anyways, without them......

You didn't hear about the Illumina move? Well, in spotlight stealing moment, they showed an iPhone app for your whole genome a whole genome at 30x coverage for 48 Thousand USD. ORDERED BY PHYSICIAN, counseled and then tested, a consumer can then get on their iPhone (maybe) or at least their new Mac and surf their results...

This could be a fantastic thing, if it were not for the Incidentalome that this will unleash!


Well, in radiology their is a term for finding something on a radiology scan which you weren't looking for. Most often this "Thing" is a benign cyst that regresses or is just an artifact......
But as physicians we end up doing a full court press work up and costing even more money than we thought possible......

Zak Kohane wrote an article about precisely this in 2006 in JAMA...........

He estimates "false positive" rates could be higher than 60%

So my point is this......50k or 5k or 500 bucks, the genome is going to cost about 500 bucks in less than 5 years.

During that time....WE STILL WILL HAVE NO F*CK*N& CLUE what most of the information in it means......And we will be trying to explains things which may mean nothing.........
I remember the blog post I did about the geneticists sitting at a table with Comparative Genomic Hybridization Results.....They all said "I Dunno"

We may not know for a very, very, very long time......Francis Collins tells a joke

"A geneticist's wife was talking with her friends........She says "We've been married 20 years now and He keeps telling me how 'We are GOING to have a great sex life' "

The Sherpa Says: Give me a freaking break, Guys, Seriously. What the hell do you think is so great about this $H!T? Seriously? This will cause more confusion and likely more cost. What revolution does this bring? I can see PGx, but that is really about it. OK, maybe NBS too....


Mike said...

Other than that what do you REALLY think about DTC testing...
Okay, seriously though.
The interpretation and efficacy of the tests is precisely the crux of the issue and one I personally thing we need to find an answer to because the test are out the and aren't going to go away.
People are using them and will continue to use them, media will grab onto them as something cool to write about, and companies will continue to sell them.
To my mind a little or a lot in the way of a public awareness campaign might really make a difference.
a) It would help consumers make an informed decision about seeking out tests.
b) An equally informed view of the results once they have had a test.
c) Make the companies more accountable for the interpretation and maybe make that interpretation somewhat better in the process

I've been through the 23andME, deCODE, and DNA Ancestry Project testing just to see what it is all about and in my view the companies are pretty up front about what they can and cannot promise. Consumers skip over the fine print whether it is a DNA test or a microwave user manual. A well run awareness campaign about DNA testing may in fact help the companies as well in making it clear what they are really offering.

Not sure who would run it but it would be cheaper and more effective in the long run than investing in heavy regulations, enforcement, inspectors and anything else that goes with more rules.


Steve Murphy MD said...

I agree with you, except the regulation is already there. It is just about enforcement here.....

People are allowed to be stupid, unless you spend the government's money.