Friday, June 5, 2009

GAPPNet, Hacked Records and ICOB


Happy Donut Day Everyone!

"Wha?"

That's what I said as I walked into my Dunkin Donuts across the street from our new HQ. The guy saw me coming in, prepped my coffee, Large Blueberry, Milk and Sugar......

As I went to pay, he said, "Happy Donut Day" I barely understood what he said when the manager said "Pick your donut, FREE"

OMG, as if I wasn't fat enough. How many other of my readers took the free Donut today. I looked around in my DD and it seemed everyone took the donut.

People certainly are game for free.........
Speaking of FREE, the Coriell Personalized Medicine Collaborative is in essence a Navi/23andM- scan for FREE. I just got some more results this week. I don't have Hemochromatosis HFE type, Hooray! This can be yours as well.....

That is if you are willing to participate in the study. Which BTW, will be covering some markers which are NOT covered by any DTC company.........And these markers
ARE CLINICALLY RELEVANT!

So what I am getting at is that the early adopters should not be paying anything for these services........

While the donut fills my sense of hunger for food, the SNP scan fills your hunger for knowledge. Either way, it should be free. Yes, only on Donut Day, but on non-Donut day it is only priced at 99 cents.....which is where the SNP scan will be soon enough....

Speaking about the SNP scans, I am sitting here pouring through literature for the CPMC's next ICOB meeting, which I will be attending via satellite from my outpost on the Gold Coast......

We have some interesting SNPs to debate about........It seems as if we aren't the only ones doing this......EGAPP does it as well and it sure is nice to have an EGAPP member on the ICOB......

But now the CDC has created GAPPNet. Huh? GAPPNet? "Mind the GAPP." Get it? What is it?
From the Site:


"GAPPNet aims to accelerate and streamline effective and responsible use of validated and useful genomic knowledge and applications, such as genetic tests, technologies, and family history, into clinical and public health practice."

I wonder why they didn't call us.
At
Helix Health of Connecticut we do this everyday.....Never mind the website, we are rebuilding it, just like the offices....... I really hope they do, as the inaugural meeting is on my birthday........I won't hold my breath though......

Come on Muin, just email me.......PUHLEEEEEZZZZ!!!!! There, enough begging for the day.


So you can read about GAPPNet in the ACMG journal Genetics in Medicine, provided you have a subscription, at 1k per year, sorry blogosphere......

As I close on this Donut Day, I want to say, not everything that is "Free" is ok. Remember that when it comes to storing your medical records........From Forbes on the 3rd,
UC Berkley medical records hacked...... To protect your records, we are investigating NSA level encryption tools......You can never be TOO PARANOID......(Devilishly Crazy Laugh)

The Sherpa Says: To charge a price, you must prove value, to demonstrate value you can't go on Oprah and say it has value, you have to PROVE it has value.......You do that by "Just Doing It".......

3 comments:

cariaso said...

Steve,

CPMC currently reports 3 snps, according to
http://cpmc.coriell.org/Sections/Genes/?SId=10
with plans to expand to 10, any day now.

You say that CPMC "will be covering some markers which are NOT covered by any DTC company.........And these markers ARE CLINICALLY RELEVANT!".

OK, so what are they?

And given that CPMC is based on the Affy6.0 how could they be testing for anything which is not tested by Navigenics? Are you suggesting there is some additional genotyping with a secondary platform?

Steve Murphy MD said...

Mike,
You caught me.......can't talk further about this yet.....just priming the pump......

You can always email me

-Steve

Andrew said...

"To protect your records, we are investigating NSA level encryption tools......You can never be TOO PARANOID......(Devilishly Crazy Laugh)"

You mean PGP? Oh, so yah, we'll encrypt your medical communications and records with PGP if you want it. It's not "NSA"... but it's certainly enough to keep out auditors and lawyers... unless you let them in...