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....