The Doctors are OK with this?

Yesterday in "The Times" a nice article was posted about the revolutionary way in which doctors will receive education about CLINICAL genetics, this time it is from NonClinical Scientists......

At the tune of 4.5 Million British Pounds!

This may work with CGCs, oh wait, they don't do much of anything in the UK system.

What about clinical geneticists?
Who?

Ok, scientists it is......

So I can just see it now.

A busy NHS practice, patients out the door, flu shot here, flu shot there and in rolls the "Scientist"

Clinician-"Oh hi, you must be the genetics guy sent from the government. Have a seat, I'll be right with you"

4 hours later

Scientist-Sitting nicely, waiting

Clinician-"Ok, lets chat over lunch"

Scientist-"Glad to be here, Let's talk about what a chromosome is"

Clinician-Scarfing down a sandwich "Ok, that was great, gotta go. I am double booked. See you in a few"

4 hours later

Scientist-Sitting Nicely, waiting

Clinician-"Sorry about that, I had a sickie and then the crazy lady....G-d where did the time go?"

Scientist-"See you tomorrow?"

Clinician-"You bet, I feel better prepared already"

As nice as this one is, I have already tried it with a clinical geneticist who actually can create billable events and see patients........ I am not so certain that going to the doctors will help as much as being on their iPhone or on a hotline.......

The Sherpa Says: When climbing the mountain for the first time, it is best to chat with someone who has been there before.....Muin and Franics, I hope you are paying attention here.

Pharmacogenetic Indication for a Medication?

That's one way to market the newest medication to prevent stroke, heart attack or stent thrombosis.

Wha? Yes, I mean, Prasugrel otherwise known as Effient is FDA approved for use in these patients.

But one thing I was thinking is that, since the FDA put on the insert of Plavix that 2C19 testing may be useful to identify people who will not respond to Plavix (generic Clopidogrel)

Perhaps, the marketing geniuses over at Eli Lilly could use this as an FDA suggestion that these 2C19 people may be better off with Prasugrel.

Yes, it would be one of the most brilliant ways to market pharmacogenomics. I can only imagine the DTC genomics companies salivating over this "We offer the 2C19, test. Act now, save your life." Technically, It actually could. Yes, all the stops would be pulled out and it could potentially save the DTC genomics companies.

You may be asking yourself, "The DTC companies need saving?"

Yes, they do. Face facts, Research revolution is a flop, nowhere near 1000 people per study. Funny how people don't trust google or anyone without proper research accreditation.

Navi is slashing costs and they have a CEO who is the master of running wastelands (i.e. companies where all the bad assets of a VC firm go)
DeCodeMe.....huh?
Pathway and Tru have no marketing budgets and no real scientific staff.......... Seriously here. WTF?

But, if they could get one big hit from Lilly shoving billions into this PGx marketing campaign, they could be ok. Otherwise, I am afraid, they are lost.

For Lilly it would be a huge win too. Why? Imagine being able to pull a full 1/3rd of all patients taking Plavix off and switching them to Effient/Prasugrel. They could, they really, really could.

So now that I have you attention. The big question is , when will Eli Lilly do this? My guess, in the fall.

Mark my words, they WILL DO THIS and it WILL SAVE companies like 23andSergey and Navi. If of course they offer the test. LabCorp, Genelex and Quest all offer the test now.

But here's the rub, if they offer this and say it is used to make a clinical decision, then they will be a part of the healthcare industry......... Oops, forgot to mention that before. Survive and take regulations or Die..........

The Sherpa Says: This would be the most brilliant marketing campaign in the world, Personalized Medicine awareness would be worldwide, and Pharmacogenomics would hit the stage in a major, major way....Thanks Lilly, call me to orchestrate your campaign.....

Go See a Gastro Doc

I am so blown away at the desperation (def: recklessness arising from despair) of the DTC companies. Recently my iPhone has been flooded with all sorts of clinically inaccurate information designed to make people think that something miraculously has changed with DTC genomics tests.

A change so impressive that it now appears as if you can actually do something about the results.

The best is a video now on Navi's website

2 sisters on the site taking about their results......likely plants......

The transcript includes these misleading words.......
Sister 1: We both tested "High" For Colon Cancer!

Sister 1: But the Crohn's disease was "really high" on my results. Which is interesting because, I didn't know we had that disease in our family......

Sister 2: It is a disease that is 75% genetic but 25% controllable by environment and diet

Sister 1: So I am making an appointment now to go see a "Gastro Doc"

Explain this to me, how in the hell are they getting away with such a flagrant use of insinuation that they tested for the exact 75% genetic part of Crohn's.... AND who the hell says it is 75% genetic but 25% controllable?

What does that exactly mean?

Chalk another piece of false advertising claims up to the geniuses at Navi......Good job Denise.

Let me know how that call with the FTC goes......and clean up your twitters.

Inferring that you can find out your risk for colon cancer with a gene test is false as well.... I am not going to even comment on their partnership with the Toronto Clinic other than to say that this will likely be the move of these companies prior to the US regulation hammer falling.....

They (DTC Genomics) will all move to foreign markets like Canada, Asia and maybe even Africa. Because the EU and likely the US will have had enough of their false claims and shenanigans.....

This video and the tests have tricked this ASYMPTOMATIC woman into going to see a specialist, for what I don't know....I can't wait to see the GI doctor's face. Assuming of course this wasn't just a bull$h!t marketing video that wasn't real.

The Sherpa Says: Want to know about Crohn's disease? Don't think that a few genes can give you disease or that we even know how to modify the environment enough to prevent it. I know for sure that eating some carrots, onions and peppers sure as hell ain't gonna prevent it.....I hate marketing lies. And these guys do it ALL the time.

Genetic Variation in Different Cell lines? That's News?

Ok, So I have to get something off of my chest.

Has anyone heard of a segmental NF patient?
No?
Maybe because you have never done clinical work?

What about the fact that even Monozygotic twins have different CNVs and epigenetic changes?
That's new to you too?

Well, HOLY $H!T is this gonna rock your world.

Blood cells and cells in the Aorta have different SNPs!
Wow!

""The usual dogma is that your DNA is the same all over the place," senior author Morris Schweitzer, an endocrinologist and lipidologist with McGill University and the affiliated Lady Davis Institute for Medical Research at Montreal's Jewish General Hospital, told GenomeWeb Daily News. But, he said, his team's work suggests that isn't the case."

Who the hell taught this guy that? That's so 1990s......

Do you mean that I could have different SNPs in my spit than in my brain? Yes!

Now what about in my blood and in my sperm? Yes again!

This is the thing I love about all these simpletons out there.

Just because we have different genetic material doesn't make the research bull$H!T. The associations are there, we just may not know exactly what the hell they mean. Nor may we actually find a pathway just because of SNP tests and GWAS.......

To ascertain true disease cause we need disease tissue, plain and simple. That has been the problem whcih has plagued psychiatric and alzheimer's genetics for years.......

I can see it now "23andSergey Research Revolution" Sign up for this GWAS where we biopsy the brains of depressed people.

It wouldn't exactly meet IRB standards, which is why I think Sergey's Angels could be the only people to pull that one off........

But seriously, what I am taken a back by is the fact that all of these purported genetic experts are suprised that SNPs are different in different tissue types. In what world would that NOT be the truth?

Maybe a world that Venture Capital was pitched to, but that ain't reality and it may not even be that big a deal.

BUT, a lot of "Smart" people have been misled if they actually assumed that SNPs were stable between tissue types.....

The Sherpa Says: A little bit of clinical work would go a long way for the people in the lab.......

I'm All for Change, But this?

I hope you can get a deep understanding of how absolutely and completely worse off we will be with this complicated system. You can say, "well can't the US government track submarines underwater while also tracking missles overhead and STILL collect taxes?" They can, but this is even more complex. Listen, it would be nice to have a cheaper Not For Profit system out there to pay for care.

Remember, having access to health insurance, is NOT having access to healthcare.......

It's having access to health insurance. I don't know if anyone reads Investors Business Daily, I do and on Wednesday I read something which almost made me $h!t my pants. The House bill went public all 1018 pages of it.....

On Page 16 there is something very, very scary on it.........

From IBD (Not to be confused with Crohn's Disease)


By INVESTOR'S BUSINESS DAILY | Posted Wednesday, July 15, 2009 4:20 PM PT

Congress: It didn't take long to run into an "uh-oh" moment when reading the House's "Health care for all Americans" bill. Right there on Page 16 is a provision making individual private medical insurance illegal.

IBD Exclusive Series: Government-Run Healthcare: A Prescription For Failure



When we first saw the paragraph Tuesday, just after the 1,018-page document was released, we thought we surely must be misreading it. So we sought help from the House Ways and Means Committee.

It turns out we were right: The provision would indeed outlaw individual private coverage. Under the Orwellian header of "Protecting The Choice To Keep Current Coverage," the "Limitation On New Enrollment" section of the bill clearly states:

"Except as provided in this paragraph, the individual health insurance issuer offering such coverage does not enroll any individual in such coverage if the first effective date of coverage is on or after the first day" of the year the legislation becomes law.

So we can all keep our coverage, just as promised — with, of course, exceptions: Those who currently have private individual coverage won't be able to change it. Nor will those who leave a company to work for themselves be free to buy individual plans from private carriers.

From the beginning, opponents of the public option plan have warned that if the government gets into the business of offering subsidized health insurance coverage, the private insurance market will wither. Drawn by a public option that will be 30% to 40% cheaper than their current premiums because taxpayers will be funding it, employers will gladly scrap their private plans and go with Washington's coverage.

The nonpartisan Lewin Group estimated in April that 120 million or more Americans could lose their group coverage at work and end up in such a program. That would leave private carriers with 50 million or fewer customers. This could cause the market to, as Lewin Vice President John Sheils put it, "fizzle out altogether."

What wasn't known until now is that the bill itself will kill the market for private individual coverage by not letting any new policies be written after the public option becomes law.
The legislation is also likely to finish off health savings accounts, a goal that Democrats have had for years. They want to crush that alternative because nothing gives individuals more control over their medical care, and the government less, than HSAs.

With HSAs out of the way, a key obstacle to the left's expansion of the welfare state will be removed.

The public option won't be an option for many, but rather a mandate for buying government care. A free people should be outraged at this advance of soft tyranny.

Washington does not have the constitutional or moral authority to outlaw private markets in which parties voluntarily participate. It shouldn't be killing business opportunities, or limiting choices, or legislating major changes in Americans' lives.

It took just 16 pages of reading to find this naked attempt by the political powers to increase their reach. It's scary to think how many more breaches of liberty we'll come across in the final 1,002.

AS Jon Belushi said in Animal House

"Holy $h!t"

This is crazy. If this becomes law, it in essence will prevent you as an individual from changing plans, unless of course you go on the government plan. No more individual policies.......EVER

This may not be a big deal for someone in bad health, but for a health 40 year old who wants access to specialists without issues or waiting periods, this could soon become illegal......

The Sherpa Says: If you think that these changes will enable Personalized Medicine, think again.........Besides, the real costs in this system are drugs and hopsitals. Why bother with the providers?

Take Stable People and Genetic Counselors

From Bob Green's Study which is being held up as:

"SEE, NO ONE FREAKS OUT WHEN THEY GET GENETIC TEST RESULTS"

A 90-minute, semiscripted group session that was led by the genetic counselor described the limitations of APOE testing, the absence of a medical benefit of such testing, and the format for communication of the risk.

All subjects later met individually with the genetic counselor for the drawing of blood samples, which were sent to Athena Diagnostics for APOE genotyping.

Subjects were then randomly assigned to receive the genotyping results (the disclosure group) or not to receive the results (the nondisclosure group).

Subjects in the nondisclosure group were individually shown two charts: one showing the incidence of Alzheimer's disease in the general population according to age and another showing the sex- and age-specific incidence of the disease among first-degree relatives of patients with Alzheimer's disease.

Subjects in the disclosure group were shown the same curves with an additional line for their genotype-specific risk . They also received their lifetime cumulative incidence risk by the age of 85 years.

Subjects were told their APOE genotype and were given written reports of their lifetime cumulative incidence risk and remaining incident risk.

None of the subjects had high anxiety or depression scores at baseline, which would have excluded them from the study.

So what you are saying is, we took away all the unstable people, then gave a 90 minutes genetic counseling session to ALL participants and everyone that got the APOEe4 genotype seemed to handle it ok.......

What a crock of Horse$h!t
This actually got published in the NEJM? Even worse, now some dumb marketing rep can say

"According to a study in the prestigious NEJM, people can handle genetic test results when you give them to them"

I am so fed up with this crap I could scream.

For a fresh breath read the editorial

Effect of Genetic Testing for Risk of Alzheimer's Disease

Rosalie A. Kane, Ph.D., and Robert L. Kane, M.D.

The study by Green et al. is a rare and welcome trial of a process that might inform ethics guidelines.

But how reassured should we be that testing and disclosure would not be harmful? None of the subjects had high anxiety or depression scores at baseline, which would have excluded them from the study.

Presumably, subjects who agreed to participate were sufficiently indifferent to the potential test results to accept randomization and thus are not representative of those who have a strong perceived need to know or need not to know. It seems possible that some subjects were unable to interpret the data.

Despite the rhetoric of a new patient-centered, evidence-based society, we remain largely innumerate and poorly equipped to comprehend statistical probabilities.

The Sherpa Says: Another study of hype! Take Stable People and Genetic Counselors, present data over 90 minutes and whaddya get. No big deal. Just like this study.

TruValue is coming. Valuation of GMG......

Valuation, it is a fickle beast. I love this post from AskTheVC.com

Valuation – especially for early stage companies – falls in the category of “more art than science.” While buyout investors who are acquiring companies with meaningful cash flow streams love their multi-sheet Excel models with 37 pivot tables, most early stage VCs can do valuations on a napkin (or – if they are good at simple math (e.g. addition and subtraction) – in their head.) In the early stages three things drive valuation: (a) ownership dynamics, (b) market terms, and (c) competitive deal dynamics.

Remember Again - this is art - there is no scientific way to really value three guys and a powerpoint slide or a web service with 10,000 subscribers of which 250 are active (although no one can prove that only 250 are active.)

Which brings me to my next point. How do you value a service which has an undisclosed amount of users, immense governmental regulation, and a company who is moving to offer the service for free?

The Art would say, unless you are going to sell the data to someone AND have that contract in hand......it is pretty much B.S.

I am surprised Pathway launched simply because of this reason.

Which makes me wonder, do these companies have contracts to sell YOUR genetic data? Did they disclose to you who they have contracts with?

Which also makes me wonder about this whole research revolution. What's so revolutionary about it? Maybe how they don't use independent reviewers to approve the research and monitor the safety of the participants? Aside from Nazi Germany and Tuskegee, that is pretty much a revolutionary concept....

One thing is for certain, the company which says takes us seriously as we charge you 2500 USD for Gornish has seen the light.

Take their recent Twitter posts

"Navigenics Health Compass: $499 until August 31st. Take control of your health. Use promotion code COMPASS-LTO-26225 http://bit.ly/11FvS2

and

New price on genetic testing http://bit.ly/oRsLF

So one has to be asking yourself, when market segmentation doesn't work and Big Blimps don't work and Celebrity endorsement doesn't work and super cool bubble conferences don't work what is the value of this and how does the public view it? The value or perceived value must be on the users themselves OR their data..........

I personally wouldn't pay any amount of money to give a single drop of spit to these companies UNLESS I could profit from their companies and the data they sell. Maybe after the companies offer free testing, they will next try to give you dividends for the investment of DNA?

It could happen. Why? 1 year ago asked attorneys about doing this grand Genome Phenome Metabolome study and if we could give people who participate shares in the company....... The lawyers freaked out. Which is precisely why it sounds just like the thing 23andSergey would do.....and in the end Navi would follow in their footsteps........ Just like they are doing now.

I have been asked why I dislike these companies and distrust them.

1. They give geneticists and genomics a bad name by hyping inaccuracy
2. They are screwing with the public perception of genetics and personalized medicine
3. The infer clinical value and don't offer it
4. They purposely avoid regulations put in place to protect people
5. They have given absolutely NOTHING back to the field of genetics or medicine
6. They are doing "research" on human subjects without protecting them

I could go on and on here, but I will save it for now.....

I like to close with a great quote, edited for Genomics purposes.

"The Silicon Valley is a system, Neo. That system is our enemy. But when you're inside, you look around, what do you see? Businessmen, Marketers, Hyped Scientists, Programmers. The very minds of the people we are trying to save. But until we do, these people are still a part of that system and that makes them our enemy. You have to understand, most of these people are not ready to be unplugged. And many of them are so inured, so hopelessly dependent on the system, that they will fight to protect it."

Have an idea, hype it, put it on Oprah, and hope the hell the sheep buy it........ I have a bad feeling about this. The public is awakening from the slumber here and it is likely that the usual VC stunts are not working......... Uh....Oh........Genomics for free, at a price.

The Sherpa Says: All the tricks the matrix pulls, all of the bamboozling, Ahh Gornish Helfn.

Pathway Genomics IS a lab. Not an algorithm.

Today an article came out in BioIT world about Pathway Genomics. (Sounds Eerily like Amway)

With a tagline like, "Your Future, Only Better" I thought that maybe they were like Vanilla Sky or some Total Recall like service. I could only guess how in the world they could offer a better future through a SNP scan.....

Yes another DTC Genomics/SNPscan Company in the game. Hopefully they will accept regulations and not try to manipulate the laws. I hope that they act responsibly with the data and samples. I hope that they will be transparent and honest.

FROM Bio-IT

"In common with other consumer genomics firms, Becker oversees an editorial team to review criteria from the latest peer-reviewed genome association studies. That team includes Victoria Magnuson, who trained with Francis Collins and John Todd and is an expert in type 2 diabetes genetics. “We are putting together a white paper that will eventually be on our website that describes our criteria,” said Becker. “We’ve tried to be pretty conservative as to what is acceptable, validated research versus preliminary research markers.”

Mostly, I hope that they put people with clinical experience into positions of management and decision making. Because if they don't, they will be making the same mistakes as 23andSergey.

Fast follower? Probably. But is fast what is needed here? No, I would say slow and methodical is the best way to be in this business. Which is why DeCodeMe may ultimately win in the end. That is unless they go off the deep end and push clinical tests from recent discoveries without validation......

Oh wait, they already did that........

So to Pathway I say, good luck. My guess is that your tests will cost 75.95 USD very, very, very soon.

The Sherpa Says: Your future, Only better. Damn, I am glad you are around Pathway (Sounds eerily like Amway) because I have no ability to make my own future better without you.

HT Dan V.

Why SB482 is bust. I am amazed by smart people.

If any of you were on the receiving end of my email blast, bear with me. I have a few points to make this morning. A coupla weeks ago, June 24th to be precise.......23andSergey reposted a tweet which really got my attention......


The original tweet was "@23andMe BTW, you saved me $25 for a CF test - used my and spouse's 23 results instead. Thx!"

The user is a really super smart CEO of a company.

After Daniel MacArthur and I protested, 23andSergey pulled down the post........Normally not a big deal, but then came a tweet for me which really had me even further convinced of some issues with DTC

"@hh Really, how so? Our fertility doc says "either of you been tested as a carrier of CF?", yes, both know status via our @23andme."

Do they really know?

No. Truth be told, the delta508 mutation is not exactly the gold standard for carrier screening.....and what the hell? Carrier screening? Isn't that medicine?

Which brings me right down to it........State Bill 482 in essence says that these DTC genomics companies aren't really doing testing. They are only applying a mathematical algorithm to determine risk...........

Could you please tell me what algorithm is used to say you are or you are not a delta508 carrier in the CFTR gene?

Here's another question.

What algorithm are you using to tell people whether or not they have Ashkenazi Jewish Founder Mutations in BRCA genes?

The answer is, they are speaking out of both sides of their mouth. These companies are intellectually dishonest and are looking to pull a fast one here.......and their lack of care for customer or patient safety and health is amazing.

When they pulled that CF retweet, did they post a tweet which says "23andSergey services are not to be used for medicine, and carrier screening is part of medicine"
The short answer.

No.

The long answer, why turn away a customer base who is inferring that it can be used?

I was quoted at the bottom of a San Jose Mercury News article the other day I am an Internist BTW.......

But my point is this, in the world of scandal in politics and lack of transparency, shouldn't we be asking why a company who wants to do this research revolution but won't have an IRB, a company who wants to "Be regulated" buyt by their own rules, a company who has deep ties to a company whose bailiwick is data mining and archiving, a company who performs medical type tests and infers that they can be used as such (despite the fine print)......shouldn't they be held to some sort of standard here?

Are we in the field of genetics so desperate for attention that we let these companies slide in their own laws and their own rules? Do all ships really rise with the tide? We need to ask ourselves here, is this sort of quick shiftiness and legal manipulation ok for the field of genetics?

What sort of trust does it inspire to know that the laws regulating companies were written by the companies. Less than 10% of all congressmen and senators were ever doctors (for my curious detractors).

Why does the medical field come under fire? Lack of trust. Do we really want another chink in our armour?

Does the entire field of genetics and its amazing discoveries want in its midst a company who is willing to manipulate data, lawmakers and ethics to survive?

What does that say about the field? How desperate are we?

What does accepting them say about us?????

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........

Tuesday's Doc! Getting bamboozled in Genomics.

Warning! If you don't want to hear me go off on the Public Relations and Journalism field, click away now!!!!!

Now!!!

Seriously, now.


For centuries advertising and journalism have existed. In fact there relationship has been one of symbiosis. Think about, papers can't print without money, the money often doesn't come from subscribers, it comes from advertisement's..........

This is one of the big reasons why papers are dying.

Online Media Outlets just keep seeing the money flow in though......... Why pay to get marketed to? That is essentially what the savvy news reader is saying.....which is why they have turned away from newspapers and turned towards blogs and twitter......what used to be the gold standard of journalism is now being exposed as a piece of paper for rent to the highest bidder, couched in some official looking headline....

I am afraid the same may happen to blogs and twitter........But this game is not new, the advertising industry has a whole army called "Public Relations" which is designed to do just that, sucker a pressured journalist into "copying" a Press release into an article and send it out "AS IF" it were news.....

What really turned the public's attention towards this really, really big scam? Blogs........ Yes, blogs.

The very thing I am writing now.

Why do I know this?

Because I saw it happen........ In 2007 when I started blogging, I was the only, I repeat only voice dispelling the HYPE behind DTC genomics..... The press had been infiltrated by the PR crazies.......

Article after article about how fantastic this would be, without ANY other input from the professional genetics side........or if it was, it was a zealous Ph.D. without any clinical context.......

Drew mentioned the news cycle in most fields with a backlash, that often happens pretty slowly, but with Blogs, it is now sped up.........

It turns out that the PR crazies, in an attempt to keep the good times rolling on crappy products and services which don't sell themselves, but instead need millions of PR dollars have turned their eyes to another target......

Yes, the very target that can dispel their hype........luring them with giveaways and maybe even financial rewards..........That is right, Bloggers and Twitterers......

You who write are now the target.....Please tell me you already knew this....... For every PR bastard that I have to filter out of my inbox, to every free fruit drink or textbook I have to throw away, I see it more clearly........ If more bloggers than not are duped by these PR crazies, the blog may actually go the way of the newspaper........

Think about it.

PR has to spend billions a year on newspapers, but they can buy YOU off for a 300 USD SNP kit, or a TOUR of their client's facilities......

It has happened to me. I have been wowed by some wonk running one of the genomic companies. And if it could happen to super cynical me, imagine how many more it could as well.....Don't believe it?

All you have to do is read this NYT piece (I know, I just bashed newspapers) about PR's new target...... The FTC realizes this.

They are going to start cracking down on this type of relationship in a way they never could have with the newspapers. Why?

Newspapers have lawyers and money, unlike the lowly bloggers. Just ask me how much it has cost to keep this blog going.........time and heartache......and J.D.'s

Which is why I commend people like Blaine Bettinger J.D. who has put on his tweets involving Pathway Genomics, the disclosure that he is a consultant for them.....

I am going to stay away from any paid advisory roles in any of these for profit companies, yes I was offered a medical directorship/advisorship for 2 new startup DTC genomics companies, but I knew I couldn't do it......I would have to scrap my blog, no matter how "The Right Way" they did these things, my credibility would erode, just like the journalists who I no longer read in the WSJ and NYT.......

Luckily, most often, the reporters who publish PR swill are junior anyways.......but in blogging, it could be some of the biggest names.....

So today when I get an email from one of the fathers of genome exploration asking me why I didn't talk about 23andMx's Blimp escapade......I explain that the press can do that, besides, the incestuous way in which the Zepplin, not a blimp came to be was because of pure insider deals, which I am not shunning, but am not going to promote it either........

HT Martian Genetics

From the NYT:

Gone are the days when snaring attention for start-ups in the Valley meant mentions in print and on television, or even spotlights on technology Web sites and blogs. Now P.R. gurus court influential voices on the social Web to endorse new companies, Web sites or gadgets — a transformation that analysts and practitioners say is likely to permanently change the role of P.R. in the business world, and particularly in Silicon Valley.

So I guess it is just a case of build up your friends/followers list, so you can cash in on them by marketing to them.......just like a salesman would.......

The Sherpa Says: I will never sell ads, shill for profit companies, or tell you anything but my god's honest opinion about personalized medicine and DTC genomics. There has to be someone out there willing to do it..........because PR is gunning for us now and we can't let the blog medium turn into a marketing op rather than a vehicle for truth.

Smoke or $h!t gets in your eye!

A recent study was brought to my attention by a great reader. I highlight it here, not because it is going to change personalized medicine, but because it illustrates some key points.

The study is entitled: "Responses to Online GSTM1 Genetic Test Results among Smokers Related to Patients with Lung Cancer: A Pilot Study" Cancer Epidemiol Biomarkers Prev 2009;18(7). July 2009

This study interested me for several reasons, the first of these was that it involved a hotly debated environmental detoxification gene which has been tested for by numerous nutrigenetics companies for years now.

The second reason it interested me is because it dealt with a population who knows that there family can get cancer when exposed to smoking. I have always wondered for years why there are these families out there who have multiple members with lung cancer, yet everyone in the family seems to keep on puffing.

Are these families full of ignorant people who can't put 2 and 2 together despite years of public health campaigns? Are the genetically or environmentally predisposed to smoking? Does the family have some weird death wish set of genes?

I have always wondered why they do what they do. This study evaluates precisely these families....

It was published on GenomeWeb and on several blogs as well as several news outlets with titles like:
1. Online Genetic Testing Appears to have Benefits
2. Study Suggests Online Genetic Test May help Smokers Quit
3. Possible Benefit From Online Genetic Testing For Lung Cancer

What they did: They identified relatives of Patients with stage IIIB/IV lung cancer who were receiving care in the Thoracic Oncology Clinic at the H. Lee Moffitt Cancer Center and Research Institute were identified. So in essence, patient who have pretty bad cancer, their relatives....who likely know that it is a bad cancer.

They tested the relatives for GSTM1 genotypes. Which is pretty interesting to me, because as the study admits, the Odds Ratio for Lung cancer in this null population is 1.15 to 1.17. essentially as close to one as you can get......

Which means that this association is pretty freaking weak......

So in essence they are going to clinically LIE to the person tested and tell them they had a higher risk.

Oh and BTW, they only analyzed 44 people.....Hardly a useful sample size, especially when 96% were white.....and 22% were college educated, hardly the 23andMx population......

What they found.
1. Smokers with the at risk profile GSTM1 nulls, remembered at 6 months that they had a "higher" risk.
2. Smokers with the normal risk, forgot that more often.....roughly 50% remembered that they were at "lower" risk
3. Both parties "believed" the test results equally........
4. There were NO SIGNIFICANT DIFFERENCES in uptake of the smoking cessation services between those who received the GSTM1-present and GSTM1-missing test result.......
5. At the 6-month follow-up, the proportion of smokers in each group who reported medication use did not differ significantly.
6. Perceived risk for cancer was the SAME in both groups
7. There were no significant differences over time in confidence in ability to quit smoking between the GSTM1-present and GSTM1-missing relative smokers.


"This observational study was not sufficiently powered for nor was it a study aim to assess smoking cessation as an outcome."

Obviously as it only had 44 participants in it........ So I am freaking left asking myself "Where in the HELL is the benefit?"

There are a ton of limitations which prevent this article from even being a study. It is an observation of a very, very small cohort......I consider this as statistical NOISE.........

But, the authors try to save themselves by stating "However, these limitations need to be balanced against the strengths, which include this study being the first, to our knowledge, to offer genetic testing for a common gene variant online."

Are you serious? Strengths? Maybe Strength, but I think that there is other research currently going on involving online genetic testing.

Maybe not published, but there is ongoing......

Some important points that I take from this paper........
1. DTC Genomics has a huge PR machine that will trick papers into writing bull$hit headlines and false claims....I.E. you cannot trust a single thing published in the lay press about genetic studies EVER!!!!!

2. How does a study with 44 people get noteworthy accolades for proving that essentially a single gene variant, weak association, does nothing in terms of empowering patients.....IFF you accept that this study wasn't just noise......

3. The DTC companies offer THOUSANDS of these little polymorphisms......if the people with normal results can't remember that they are at "REDUCED" risk from ONE, how can we expect people to remember THOUSANDS.....BTW, this is essentially like telling a patient that if they eat a ONE cheeseburger from McDonalds on Tuesday July 16th that they are at risk of a heart attack in the next 5 years......Statistical Bull$hit with ZERO Veracity

4. People will cling to the tiny shred of suspect evidence of the 6 of 44 who quit smoking.......% had the GSTM1-Null genotype, which if you look at statistics is likely pure chance as 50% of the pop is NULL.......Hmm whats the odds of 5/6 being null....I can't believe they even mentioned this in their paper.....What a crock!!!!!

The Sherpa Says: Just because it is published in a journal doesn't make it Good Science. Hell, it doesn't always make it Science at all.......Shame on the press and the bloggers who hyped this piece of garbage.......