Hooray! Invited to GAPPNet!!!!

In what turns out to be a brilliant decision on part of the CDC, they have created this network of collaborators called GAPPNet.

Which stands for Genomics Applications in Practice and Prevention Network..... I think I had mentioned the great work of the CDC on this for quite some time.

I first noticed their work while trolling through webcasts of the SACGHS meetings. The first which caught my eye was when Dr. Muin Khoury breifed the committee on the public health initiatives in this space.

This was back in 2005 when we were trying to think about how best to expand access to genetic testing. My partner and I at the time were wet behind the ears in this space, in fact our initial feelings were very similar to Anne Wojcicki and Linda Avey......until we began to ask for advice and watch these meetings......

That's when I became convinced that the best way to bring this to the masses was not through some disruptive Web App selling genetic tests without any care for regulation.......it was through tested and proven methods which were not being used, as well as through deliberation on which genomic applications needed further study and which were ready from prime time..... Which is why I am so excited to let you know that I have been invited to the GAPPNet meeting in October!!!

You can read a little bit more about GAPPNet in this article, or you can browse the website.

GAPPNet will be comprised of stakeholders, which include researchers, practitioners, policy makers, educators, and representatives from academia, government, health care, public health, industry, and community and consumer groups. Over the next 2 years, CDC and NIH will convene GAPPNet stakeholders to provide greater support for the following functions:

• knowledge synthesis and dissemination
• evidence-based recommendation development and dissemination
• translation research, and
• translation programs.

So you can imagine my excitement regarding this group.

We have developed an educational curriculum for residents in Internal Medicine. I have been serving the on ICOB of Coriell's Personalized Medicine Collaborative, evaluating the science of each GWAS study. Helix Health of Connecticut is also involved in the CPMC.

We also are actively looking for great research to involve our patients.......research that is ethically conducted and involves institutional review boards.....

So a lot has changed since 2005 when we wanted to "Democratize Genetics"......... I am certainly glad we will have GAPPNet to help guide the way on these things........

Lastly, I want to point out an article in the ACP Internist. On the front cover was an article about, you guessed it.......DTC genomics scans......Titled "A Brave New World of consumer gene tests" The article misses the point and lets Dr. Topol, an adviser for one of the DTC companies issue talking points........ It does point out Navi's early gaffes, but it then downplays 23andSergey

"23andMe is the cheapest test at $399, and includes more of what Dr. Topol calls “recreational information,” such as whether one is disposed to have hard or soft ear wax. All told, it gives feedback on a whopping 114 traits and diseases.

“23andMe is a little more for fun. It does include some serious medical conditions, but the proof or evidence doesn’t appear to be quite as rigorous,” Dr. Topol said. “It makes for good cocktail party chatter.”

23andSergey is for fun????? WTF? Did you forget that they are testing pharmacogenomics and BRCA variants Dr. Topol? Hardly Party Chatter.....

"Yeah, so I have this deleterious mutation which increases my risk of ovarian cancer 16 fold......could you pass those little cocktail weenies please???"

Jessica Berthold's editor should have picked that one up? Even in the clinical medicine media we get this parroting of 23andSergey's talking points. What in the hell is going on here?

Thank God they asked Greg Feero a question or 2 on this.....Otherwise, this could have been a love fest!

I repeat, 23andMx AKA 23andSergey are testing for variants in the BRCA genes and also pharmacogenomics......2 things which aren't EVER "Just for Fun"!!!!

Hopefully, EGAPP and GAPPNet can clear up that little confusion.......

The Sherpa Says: "The greatest thing the devil did was convince the world he didn't exist!"

Sergey wants to be Coriell and Navi didn't read AHRQ

I have begin to think, Charlie Rose is compromised by the people in Mountain View......

He has 23withoutSergey on the TV and here's Anne, blabbing about how amazing and important Factor V Leiden testing is and how "Wouldn't You Like to Know you were at risk Charlie?"

This just days after AHRQ released there report saying that when it comes to blood clots, this test is basically not indicated and not useful......

In addition, and what I may have failed to mention is Anne blabbing about how we need a good way to cohort patients, give them test results and follow up surveys online.

She basically was reading from the informed consent methods section of Coriell's Personalized Medicine Collaborative............

Which leads me to believe that Mike Christman has had it right all along..........Evaluate the science behind each SNP, give it away for FREE and release information that you wish to study.....which is why I was surprised 23andSergey didn't give their hobbled service out for FREE!!! Like TruGenetics is doing....

If there is one thing going on here, it is that 23andSergey is slow on the research uptake. Heck, Navi made this leap immediately after they heard about Coriell......They piled on Eric Topol and started the Scripps study.......

But alas, Navi was a little slow on the clinical side.....I say this because they are now "releasing" the results of 5 other conditions.........What's on the list? You gessed it. Factor V Leiden. Didn't they read my post? Come on Dietrich, we talked.......what is going on there???? Also they must not have read the AHRQ or USPSTF reports on HFE testing either, because that is not recommended either..... These should be studied, not SOLD!

The Sherpa Says: Don't trust Charlie on Genomics, I think he's in the tank for DTC.....

Good legal advice for Genomics.....

I have often thought that the laws which currently govern genomics, medicine and direct to consumer products are prettty interesting.

Which is why, when we started our medical practices we were going to do an internet distribution of testing and consultation........

This was back in 2005. We sat late up at night in my partners apartment plotting to take over the industry.

We aligned some players and then we obtained some legal advice.......

After that fateful day in 2005, we realized that this was a buzzsaw we did not want to mess with......Especially in New York, Our Market!

So you can imagine my incredulity when we saw 3 companies planning to do precisely what we were advised legally not to do. The mistakes these companies made were exactly the issues we were advised to avoid. We spent a measly 5000 USD for this advice, hardly anything to touch the millions in the banks of these DTC genomics companies.

I then began to think, maybe they didn't have legal advice which was in the know with genomics......I don't think many lawyers are in the know in this space frankly.......


That was until I met Gary Marchant and Dan Vorhaus. Gary is a PhD geneticist and Juris Doctorate at Arizona State and Dan, well Dan is now a blogger and his firm has started what will likely turn out being the best legal resource for genomics out there.......

Robinson, Bradshaw & Hinson, launched a new resource designed to help keep track and make sense of the increasing legal and regulatory activity in the fields of genomics and personalized medicine. The Genomics Law Report focuses on the legal implications of important developments in these fields - including key litigation, legislative, regulatory and policymaking activities –

In 2007 and said that if a young lawyer wanted to make a name for themselves, they would learn genomic medicine and the legal implications........It seems that this firm has had their eye on this for a while now....

Maybe 23andSergey will actually take some advice rather than think they know it all? I know that I sure wish I had these guys in 2005.......we may have been able to create the ideal structure here.......

Imagine all of the millions of dollars in lobbying, regulation writing, lawsuits atc. these fledgling startups would have avoided by seeking Dan's counsel.......

The Sherpa Says: Genomics and the Ethical LEGAL and Social Implications...........Guys, the HGP spent money on this......there is a reason for that......and Now there is a report for that. Genomics Law Report to be precise....

Ahh CRP, Genotyping is such sweet superstition!

Recently in the Journal of the American Medical Association an article Entitled Genetic Loci Associated with CRP levels and Risk of Coronary Heart Disease...... Long name, useful article.......

Why so useful?

Because it proves quite a point.

What is that point?

In most genetic associations the causal relationships are not proven. These studies are merely associations..... Much like what I like to call superstition...... Perhaps you have heard of some of these?
If you spill salt and then throw it over your opposite shoulder you will avoid bad luck

If you break a mirror you have seven years of bad luck

If the cows are sitting down, it's going to rain.

Don't leave a fan on in a closed room or it will suffocate the occupants

Don't allow a cat to be in the room with a baby or it will suffocate the baby

I could go on here, but I think you get the point. There are millions of observations in this world which are so strong that they get carried on through folklore as if they are correct associations.

I am concerned that this genetic exceptionalism which is in the press and with the DTC genomics companies may create a whole new level of superstition........

"If you have SNP x then you will get disease Y............some of the time"

And it will be self fulfilling......trust me, you will see cases of this coming true being published as anecdotal reports, which will only strengthen this superstition about SNPs and maybe even other genetic findings like CNVs or other rare changes.....

This is why I laugh with associations without biology worked out.......

This is precisely what our ancestors did when the kept the sword which wounded them in a cool place to reduce the inflammation of the wound.......

Frankly, I think that using SNPs in this fashion is the EXACT SAME THING.......

So these people who are considered early adopters and are "cutting edge" here with 23andSergey scans or CEOs of DTC companies are actually nothing more than CAVE DWELLERS.......

This study in JAMA shows a smiliar finding. CRP also known as C-reactive protein is associated with increased risk of heart disease.............there are certain SNPs which are also associated with elevated CRP levels.....so using rat brain thinking, we postulate that the SNPs must ALSO be linked with increased risk of heart disease....... WRONG!!!!

rs6700896, rs4537545, rs7553007, rs1183910 and rs4420638 contribute nothing to risk for heart disease, but are significantly linked with elevated CRP.....

Which goes to show that there is a problem which cannot be solved by our current mode of thinking. Because there is a problem with the way in which we think.

And those who huddle together telling stories about there genome scans are nothing more than cave people exchanging superstitions.........

The Sherpa Says: Stick to the science, look for biological explanations and then look for clinical application. Without those things, you have nothing better than a divining rod people! Didn't someone call them Saliva Diviners? HT Misha. Oh, and Francis, Told Ya So in 2008!

Med Med interactions and Jackson's death.

A great reader and wonderful lady pointed me to a potential issue with the medications that Michael Jackson was on.

She ran them through a site we use to help us with pharmacogenomic issues......

GeneMedRX.

Take a look at the meds he was on and the warnings in the boxes. I often talk about gene-drug interactions, but what we also need to be aware of is drug-drug interactions.....

This software helps. For full disclosure, we see many patients who have had pharmacogenomic testing through Genelex and use GeneMedRX.

You can look at the software here.

I find it to be pretty useful webware to quickly go through any potential issues. And on our 32 inch touch screen computers the patient like to look at it while we work through the issues as well......

Poor Michael, like all great stars......death by drugs and doctors who can't do med-med reconciliations for potential interactions........

Viva la Revolucion! DTC genomics research. Democratized!

Ok,
I am not late to the party here on this one. I have been talking about this for quite some time with posts which include

"We have No use for YOUR laws"

"Who Needs Institutional Review Boards"

"Steal Your Baby's Genome"

I could go on and on here, but this is a natural move here.......

23andSergey have decided to move the company into a space which is less likely to get them into hot water with the federal government and in fact may win them a few points with the Federales....

Why? Everyone knows the end game here. A huge database of millions of phenotypes paired with millions of genotypes and millions of metabolomes and millions of demographics........

With that you create the greatest query machine for human health, generate hypotheses from this and cure mankind of illness. That being said, what 23andSergey have now done is start the "Research Revolution", which to me sounds a lot like Dr Atkins Diet Revolution of the seventies. You remember, the guy who says "I am not really a science guy, but trust me this works"

Let me explain why their intention may be very good here. What usually happens in research: The government gives a bundle of money to a researcher or a consortium of researchers who apply for it by writing tedious grant proposals, rather than teach other doctors, students, etc about genetics. Then each institution fights like hyenas over the money to assess institutional fees (also known as indirect costs) Some institutions can take up to 30% of the money before ever getting the research off the ground......(Sounds like another money making scheme to me)

Finally after a year of planning and a year of grant writing and a 6 month ordeal with IRB approval, the study is maybe ready to get underway. Often it may take another 6 months of planning. Thus 2-3 years of leg work to get some large study started, another year to 10 to get results......

So what has 23andSergey decided? The current research system sucks!

Listen closely.......I agree with him, I also agree with the other 23.......

The system is broken, probably just as bad as medicine. So what did 23andSergey do? They launched Research Revolution!!! So the first thing I did was look it up.....But I couldn't figure out what Steven Wagenheim had to do with 23andSergey

Finally I corrected the error and landed at 23andResearchRevolution

It turns out I wasn't late to the party. There appears to have only been 4 people to sign up for this Revolution. Which includes a test for 99 dollars, the inability to keep your own personal genomic data, and of course Sergey!

23andSergey have decided that because the system sucks, they will change it by crowdsourcing research, which could be a great thing. IFF you actually had statistically needed participant numbers, research goals, informed consents which go through the process, allow participation for free and an independent IRB......

It turns out in the whole "Scrap it and let's start new" 23andSergey have thrown out the baby with the bath water......

This could have been a fantastic and it may prove to be a fantastic way to recruit patients and hell, maybe 23andSergey could turn into a CRO organization, but this is no way to do real scientific research, but it is a way to do pseudodscience, like market research........

My assumption is that this start up has decided to move away from medicine, way too much heat there, and go further into the marketing, "science", and advertising land. 23andSergey will probably morph into this social network that does pseudoscience, much like their new partner patientslikeme......

They can sell their data to pharma and to marketing agencies, they can create the first genomic focus group.....without the ire of medicine and the government.......

The Sherpa Says: Hey, be a research captain and get a free T-Shirt with Sergey's face on it......Has all the hallmarks of successful participant recruitment already! Try again. Where is the mention of your IRB? Your ICOB? Your "scientists"? These Guys? Informed consent requires ALL the information. But, hey, at least you have 4, that's a start!

Rest In Peace Michael Jackson

Ok, I couldn't help myself.

Seriously, who takes propofol to get a good night's rest?

An Addict. That's who.

Who gives that medication to him?

A crazy person looking to "Democratize" access to propofol.

Come on now.....You mean it's regulated?

You mean, I don't have the right to shoot myself up with whatever I want?

What kind of world is this? Communist Russia?

Isn't this America, where we have the "Right to Healthcare and Medications"?

There is a reason why we have regulations. It is to keep sick people from hurting themselves and others......They exist to keep people alive, they exist to keep people healthy.

Poor Michael needed a good physician, not a weak one who would do things because of money and influence.

Rest in peace Michael, I hope my partner's comments didn't hurt too much.....

Imagine? Laws to protect people from themselves.........What kind of world is this???

Didn't MJ have the right to that propofol? In a world without doctors committed to do no harm, In a world without gatekeepers, we would see far too much of this.......

The Sherpa Says: RIP MJ, your kids will mourn you......Your family will mourn you. Debbie Rowe will mourn you, until the royalty checks come in........