Watch Out Corporate Bloggers, FTC is on to you!

Now not only am I bashing corporate bloggers (Some may even call me corporate) Now the Federal Trade Commission has gotten into the game. It turns out that the FTC is on to the game of freebies for good blogging.

So to all of you who took free Navi or 23andMx or DeCodeme scans in hopes of them getting good press on your blog, you may have some issues. At least if you are in the US.....

From the Yahoo News

What some fail to realize, though, is that such reviews can be tainted: Many bloggers have accepted perks such as free laptops, trips to Europe, $500 gift cards or even thousands of dollars for a 200-word post. Bloggers vary in how they disclose such freebies, if they do so at all.

The practice has grown to the degree that the Federal Trade Commission is paying attention. New guidelines, expected to be approved late this summer with possible modifications, would clarify that the agency can go after bloggers — as well as the companies that compensate them — for any false claims or failure to disclose conflicts of interest.

So what does this mean for the genomics blogging world? A ton. I remember many, I mean many bloggers getting free kits. I also remember many people writing glowing reviews. I also know that the corporate blogs have been "inferring" things about what a genome scan can and cannot do........

The Sherpa Says: Just another case of government coming in and regulating for the protection of its citizens. Because of their commoners inability to sift through bull$h!t and hype. Time will tell what these new powers will do to the blogging community. I wonder what it will do for Twitter??? Wouldn't the government save a lot of money if they just made marketing illegal?

Crazy Friday, Awesome Call, Tru Blocks the Sherpa

I was amazed the first time I met Francis Collins, longtime a hero of mine, Francis was gracious and kind when I met him. I also share a common bond with him. Francis' Intern at UNC was a guy by the name of Jim Sabetta, one of my instructors....


That being said, before I started HH, I watched webcast after webcast of the SACGHS. This was 2005 and 2006 I'm talking about. I did it because it was research. But I saw a guy on there who inspired me, who had such a sense of reason that the whole group respected. His name is Muin Khoury.....and I just met him Friday!

It turns out we also have people in common. But more importantly, we have a healthy respect for family history in common...... This guy and his team at the CDC have been researching Family History tools and the state of the science of family history pretty aggressively. This team is a heavyweight in the field and I am blown away by what they are doing.

Why?

It is the cheapest whole genome, phenome, metabolome scan we have today. The best part is that it covers multiple people with just one take!


They are actually researching the role effect of family history on behaviors and diseases! Something which NEEDS to be done, just like it does for SNP sandcans. Except of course, Family History costs nothing.....and has some good data already! Their FamilyHealthware methods have just been released! I will cover this further in depth in another post....

I am a little ad that I didn't get invited to GAPPnet, but am very excited to see what this conference in August on the state of the science in family history will bring.....More on this later


"Update" of TruGenetics.

While I WAS optimistic that a physician was at the helm of this company, I was reminded once again that we can be shady as well. It turns out, Dan Vorhaus AKA Genomicslawyer, read the fine print of the consent form. HT Daniel MacArthur too! It turns out Free is not so Free. Its now out that if you consent, you give the green light to TruGenetics sharing your results with companies and that your data goes into a database for "research" OK, that's strike one and strike 2......


The high heater came when I was following the COO of TruGenetics on Twitter......I challenged some of thet things he had said, like I do @Lindaavey @23andMx @Navi......But unlike those companies that stand up and defend themselves and agree to spirited debate with me.......@Achamedian the COO of TruGenetics "blocked" me!

Strike three TruGenetics.

You are out! I am deeply disappointed that you wouldn't debate me. It shows your TRU-Colors, to run and hide and also hide the fact that you are taking people's DNA for compensation of about 299 USD...... Not impressive. Nor is your call rate and error rate of 5%...... I guess you get what you pay for, when of course that product isn't hyped by large PR firms...


The Sherpa Says: Don't sign up for TruGenetics and if you do, at least you now know that they have a shady COO who runs from the questions and from the Sherpa!

Free Scans, Free Scams? Maybe Not! The race is on!

Misha just posted on what I believe is the true value of all of these genome scans, currently.....

Free, until value is demonstrated in a way that doesn't include a "testimonial"

There is a new company called "TruGenetics" which is Enhancing Life Through Genomics

As I prep for my 11 AM conference call with the CDC, I have to get this post out there.....

They are giving away 10,000 scans for free. That's 500,000 SNPs from your genome, for free!

There are some big questions I have.

1. Who the hell is running this?
CEO-Jason Chien, MD, MS, Chief Executive Officer
Dr. Chien is currently a faculty member at the Fred Hutchinson Cancer Research Center and in the Department of Medicine at the University of Washington.

COO-A.Edward Mohebi, MBA, PhC, Chief Operating Officer
Ed is a serial entrepreneur with wide breadth in the healthcare and technology sectors. Namely, Digital Systems, Siemens, and Microsoft Corporation

2. Why?
To offer services!

3. What are they offering?

Sample of Over 200 Traits & Diseases

• Abdominal Aneurysm • Alzheimer's Disease • Atrial Fibrillation • Brain Aneurysm • Breast Cancer • Celiac Disease • Colon Cancer • Crohn's Disease

• Diabetes, Type 2 • Glaucoma • Graves' Disease • Heart Attack • Lupus • Lung Cancer • Macular Degeneration • Multiple Sclerosis

• Obesity • Osteoarthritis • Prostate Cancer • Psoriasis • Restless Legs Syndrome • Rheumatoid Arthritis • Stomach Cancer

Ok, so this looks like they are headed to rival 23andMc with a social network and some physicians involved, at least as the CEO here......But not the Google Power.....

More to Come on this one! The challenge is on to make a business off of people's DNA. Good Luck.

The Sherpa Says: HT to Misha for this....and likely HT to George Church.....What in the world will 23andMc do? Take another 3 million from Google, that's what.......

Factor V Leiden testing not useful?

I was at morning report about 6 months ago after hearing a talk from the Leiden people. It turns out they had never intended the testing to be used the way it has in the US.

In fact, it seems for the last few years, everywhere you turned, every doctor was doing genetic testing......this time not for Hemochromatosis, which, again is not particularly useful as a screening test for disease state. This given the low penetrence and of the disease in those who have the mutations (Which is once again why DTC HFE testing is silly)

This time it was for Prothrombotic state with Factor V Leiden and GP20210A mutations/polymorphisms.

Why did we do this? Well, we ere taught that having these mutations put these patients at risk of having Deep Vein Thrombosis. Even perhaps that we give aspirin or blood thinners to these patients to PREVENT DVT etc......

In fact companies sprang up offering DTC thrombosis testing. It was actually one of DNA Direct's first offerings, before they wisened up and got into the clinical genetics business. But after this my guess is healthcare plans may balk at their advice to do Thrombophilia testing....So much for letting genetic counselors guide test management.....

But back to my story....

At morning report, I posed a question to the residents........
"What piece of evidence exists that indicates that we should be doing genetic testing for patients who have had DVT or Pulmonary Embolism?"

They were shocked at my answer........

"There are really no good studies which make me want to do genetic testing!"

"What?" they said. They even argued that I was wrong! Vehemently.......finally it is nice to see what I said have some teeth. Imagine that, a gene guy arguing against genetic testing.

Did you see? AHRQ, the research organization that is part of the Department of Health and Human Services.....(to be read as the comparative effectiveness organization)

Well, they find, upon reviewing 7777 titles and including 124 studies, they find..........

No direct evidence that testing for these mutations leads to improved clinical outcomes in adults with a history of VTE or their adult family members. The literature supports the conclusion that while these assays have high analytic validity, the test results have variable clinical validity for predicting VTE in these populations and have only weak clinical utility.

And we are talking Odds Ratios of 10 here guys and gals

Heterozygosity [odds ratio (OR) =1.56 (95 percent confidence interval (CI) 1.14 to 2.12)] and homozygosity [OR=2.65 (95 percent C.I. 1.2 to 6.0)] for FVL in probands are predictive of recurrent VTE. Heterozygosity for FVL predicts VTE in family members [OR=3.5 (95 percent C.I. 2.5 to 5.0)] as does homozygosity for FVL [OR=18 (95 percent C.I. 7.8 to 40)].......

So I really think we need to be very serious in analyzing our clinical utility of genetic tests......

Whether SNP scan or Genome or Single Molecular test.....The Government is on to this molecular game now......they will not rest until all waste is removed from their system. When insurers see what the government is doing they are likely to follow.

Which means we will begin to see even bigger claims of BU11$H!T out of marketing folks to overcome the overwhelming "MEH" coming out of the US Government and the physicians......

It is just good medicine to look at clinical utility of a test before ordering it. Which is why I predict only bad doctors will not heed the call of AHRQ here and why I still maintain MDVIP is practicing bad medicine by integrating a test with no current clinical utility into the care of their patients....

Stop the partnership Ed, I beg you.......

The Sherpa Says: I am completely unsurprised about this as I have been avoiding the hypercoag genetic work up lately. After the scientist from Leiden said that this was a ruse.....I began to wonder how many millions insurers had paid for this testing.......Thousands get PEs every year, even more get DVTs.......Maybe resource management would be better through Generation Health than DNA DIRECT

Love my readers!

The other day I was flooded with emails from my readers about my post about the whole genome scan dirty little secret. Some agreed with me others vociferously defended the need for "further study" But the best was an email from someone who worked for one of the big scan companies, can't say which one, can't say who.

I Quote

"The speculative questions that you ask about interpreting whole genome sequencing indirectly relates to exactly what the cyclical problem is with an industry of genomic researchers who don’t practice science. Instead, they practice following the recommendations and protocols developed by instrumentation vendors, as if Mike Hunkapillar, Sue Siegel, and Jay Flatley had once parted the Red Sea"

I tend to agree that this comes down to a question of thought leaders in the field. This reminds me to the initial flack received by David Goldstein and even the Ire by Kari Stefansson expressed towards David. But then others soon stepped up and voiced their concerns here. The same thing happened when I expressed concern and reminded everyone about the laws that exist for DTC testing...

Why as a field, does genetic have this lack of willingness to challenge? I think it is for a fear that the spotlight which now shines so brightly will be dimmed because of controversy.

I disagree. Controversy is what will make this field the most robust, the best press worthy and most exciting field of "everything" for the next century.

Let's face it, there is no way that the lights will dim on Genomics. The real question is what will be the representative face of the field. Right now, it is all hype and iPhones and California Silicon Valley.........

I await to see its next face.

Maybe it will be Moses?

The Sherpa Says: It all comes down to the fact that there are so many more data points to look at than just the genome.......

The Genome Scan Dirty Little Secret

You know what I love, you take a company who is inferring that science IS clinical utility and then you hire them to perform interpretation on something that in it's current for is often uninterpretable......and then you sell that for something on the lines of 90-48, 000 USD.

My business is healthcare, my business is also risk prediction, but what my business is most is disease prevention......

My profession is physician, my oath is to do no harm and if I must harm, do so healing or palliating suffering....A noble profession to be sure.

But no one, I repeat no physician is leading the charge to do whole genome scans for risk prognostication.

Maybe for certain disease detection, but not for true risk prediction.

But, guess what? The business people are...... The business side of Genomics is all about getting "these little babies" into the hands of everyone......

Billions of people at 99 dollars a piece is a lot of money.....but the one thing that may hobble this model is what I like to call the dirty little secret of whole genome scanning.

You can read about it at my other posts
1. We have no clue what it really means.....Merry Christmas
2. Nature is So Wrong
3. Ok Guys, Seriously.
4. Rading the Medical Commons, A Pirate's Life for Me

Or you can let me recap. Currently DTC genomic companies are testing 1 million single nucleotide polymorphisms. We have in our body combined, 6 billion of these little nucleotides....

Sure the SNPs were safe, heck a SMALL minority had some science behind them.....but most were razzle dazzle and hyped by researchers to the press.....

Oversold and Overhyped.......If you thought that was something, wait to see the hype from the "Whole Genome" crowd.....

You see, even the most skilled, erudite, knowledgeable geneticist can be hobbled by the explanation of certain genomic changes......

A. If they changes often aren't in genes, then the biology needs to be elucidated, that takes years.
B. If the changes are in genes but that no one has seen before, how do you know what to predict will happen?
C. If we see a change which has been seen but has a wide variety of phenotypes, how do we explain the risk?
D. Most importantly, how do we modify disease risk based on genomic information for most of these things?????

My point is, you have disparate DTC companies calculating risks in different ways and even worse, recommending or "inferring" recommendations for lifestyle changes. Unfortunately, the quit smoking and lose weight isn't exactly "Science" or medicine, which is why they can get away with it.....

What about when a whole genome comes along at 30x coverage? Well, Illumina plans to do that and "outsource" the interpretation to these companies who are "interpreting" based on some very, very soft science already.

What in the hell do they plan to do with this whole genome interpretation?

In my mind these are the keys to get whole genome scan to utility.
1. Formalize some sort of standard interpretive algorithm AND THEN TEST IT CLINICALLY
2. Research the phenotypes which emerge from each and every genomic change out there.....Some like George Church plan to do this in the wide open....which may not attract the millions of people and dozens of years needed for this one....
3. Study the actions which will be proposed for each of the genomic changes to reduce disease risk or to treat disease.....

IFF you can get 5 common diseases captured with this, then you will have a successful system. But then the problem with this is what Illumina already knows...."you will be diagnosing disease and thus enter the realm of clinical test"

Which they have already prepared for by mandating physician ordering of their whole genome scan....

A long post I know......And a long way to go before this is useful at 99 USD per person.

The Sherpa Says: The incidentalome is just the beginning of the nightmare about to be unleashed with whole genomes.....

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. Substantial differences exist in info revealed (carrier, non-medical, ancestry); not clear which markers are tested
2. Interpretations sometimes vary, even with the same data; exhorts DTC companies to collaborate on this.

3. 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 business.....one 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!

Incidentalome?

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....