Tell Me, How do you feel now? Sherpa's RX

One thing is for sure. In a recent poll of members of the AMA, granted a pretty skewed poll as tons of AMA members cut up their cards this year........random sample of 6000 physicians from the American Medical Association (AMA) Physician Masterfile, which includes current data on all U.S. physicians.

Excluded were, residents and doctors in US territories. From this data in the New England Journal of Medicine, Keyhani et al found some interesting things. The biggest of these is that a majority of physicians are for a governmental option WITH private options.

Not a surprise, this is what ALREADY EXISTS.

From the study......

"Survey respondents were asked to indicate which of three options for expanding health insurance coverage they would most strongly support:
1. public and private options, providing people younger than 65 years of age the choice of enrolling in a new public health insurance plan (like Medicare) or in private plans

2. private options only, providing people with tax credits or subsidies, if they have low income, to buy private insurance coverage, without creating a new public plan.

3. a public option only, eliminating private insurance and covering everyone through a single public plan like Medicare.

We also assessed the level of physician support for a proposal that would enable adults between the ages of 55 and 64 years to buy into the current Medicare program — a strategy that the Senate Finance Committee has proposed."

But what pisses me off about the article is how it is written....take a listen....

"Physicians in every census region showed majority support for a public option, with percentages in favor ranging from 58.9% in the South to 69.7% in the Northeast. Practice owners were less likely than nonowners to support a public option (59.7% vs. 67.1%, P<0.001),>majority still supported it."

No caveats for the fact that DOCTORS ONLY SUPPORT A PUBLIC OPTION IFF there exists a private industry as well.

What these jokers don't say is precisely that point. Which is why, the press will publish "A majority of doctors support a Public Plan" which may sound like they support single payer.....

They don't. In fact, 3 times as many support a private only plan than a public only plan!!!!

They do acknowledge limitations

"Some limitations of our study deserve comment. First, our response rate was 43.2%, which is modest, though typical of the most recent national physician surveys and surveys in general.

There were no significant differences between survey respondents and nonrespondents in important characteristics, such as specialty, practice location, and practice type.

Second, physicians’ opinions about strategies for expanding health insurance coverage may have evolved during the period of data collection, given the intensive press coverage of the issues."

But in the end, they never, ever mention the fact that a near THIRD of physicians support a private ONLY system and that this number is 3 times the physicians who support a government ONLY plan like Canada or the UK. Thus placing those progressives who demand such, clearly outside of the mainstream of most physicians.....

The only true way to save costs is to start using science and personalized medicine. You will not save costs by covering more people. In fact, I argue that there is no science which truly extols the benefit of enhanced coverage. What should be enhanced is catastrophic coverage.

What bankrupts people? Catastrophe, not a URI.

If you want to nationalize/universalize coverage, stick with catastrophic care. That would make sure everyone was covered when HUGE bills hit.

I am certain this plan would be extremely useful. Enroll everyone in this system and pay out when catastrophe strikes. It works for life insurance. Leave the small time players alone and focus on hospitalization costs, etc.

Continue funding HPSA and increase the loan repayment to 300k over 3 years rather than 85 over 3 years. Watch the doctors come then.......

Give tax subsidies for people who pay for URIs etc or traditional health insurance, which now should cost less as the government/taxpayer absorbs the catastrophic costs.........

That should keep everyone covered and help out with the uninsured. We all know that the major cost to hopsitals is the "self pay" patient with disseminated echinococcus or HIV or esophageal cancer or heart attack.

As for the government and medicare, if you just had a huge boost in revenue by new people coming on board for catastrophic care (To be read as, not pay out for most, and pay out later for some) you could help that insolvency thingy........

The Sherpa Says: Personalized Medicine is a key, rational thinking is the LOCK! I know, my wife just had an ER visit, the hospital charged 6168.00 USD, the insurance paid 800 USD. If she didn't have an insurer protecting her from gouging, she would have had to pay 6168.00 USD. I see it both ways....

Is it true?

Did Anne really dump Linda for Google?

Inquiring minds want to know.

I am looking forward to the next couple of weeks out of the DTC Genomics community.

IMHO, they were not that impressive at the IOM/National Academies meeting.

In fact, I came away with some significant questions which I am certaim the IOM will have as well.


First and foremost, "Tell me why you aren't practicing medicine"

No one here wants to stifle progress. But we don't think you need to break a dozen eggs before you get your omelette.

You would figure someone who had gotten a seat on the Board of the Foundation for the National Institutes of Health would have figured that one out.

Yes, that is correct.

She sits on the foundation board for the NIH!!!!

Once again I am amazed!

My Hypothesis is this.

Francis Collins has never come out abashedly against this type of testing. Why? He needs a Phenome Genome Metabolome study that can be run via the web. He is friends with Kari Stefansson, who knows how to do this. And NOW it appears Anne is on his Foundation's board. What a seriously crazy coincidence............

I do wonder what it takes to sit on that Board. My guess is that you have to have billions of dollars.

Because that is about all she has. B.S. from Yale (yeah, that and a 2.50 will get you a cup of joe), Company founded by her with her husbands money. But it is notable, that this young woman wields quite a bit of power now.

My guess, 23andme Francis and the NIH will sponsor the largest personalized medicine project to challenge the Coriell Personalized Medicine Collaborative.

Barack Obama will need a good will piece like this to erase the banter of health care and it will make everyone see how future oriented he is.

23andSergey win by getting access to the data, NIH wins by leveraging a huge tool which previously had stunted most large cohort studies, President Obama wins by changing the topic to something a little less controvesial (Unless you are an Eschatologist.....)

This will probably be announced in under a year.

The Sherpa Says: Yes 23andSergey, Drew was right, you will probably outlast all others because of your shear wealth. That doesn't make it right, or ethical, but in Washington it is what it is........

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?????

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!

Scuttling Navi'

It looks to me that Navi will be scuttled. I am fairly certain of that. My guess is that more and more toxic assets will be dumped into Navi and that it will go bye-bye

Why? Well, do you remember when I commented on the silliness of Navi buying a laboratory when the CEO of Affy basically said this lab was not a good asset....

Well, we just found out why it is a "Bad Asset" and I have just decided that someone was being untruthful....

It turns out that it was Navi......sucking up a troubled asset to protect Affy. 

Why? Navi is now getting sued for 75 million due to patent infringement. To look at the case, you can read about it at Justia

Why would you buy a lab which could be and has already been proven to be subject of a lawsuit?

Navi is a pawn and I feel bad for their employees. Man were they suckered. Listen employees of Navi, if you want to make a real company, give me a call......

I wonder how many startups are designed for failure. This is just a huge shell game with really rich people.......VCs have multiple start ups so that they can protect their other real investments....

Just like the ThunderDome.......2 men enter, 1 man leaves.....

Congratulations Affy, your publicly traded shares shouldn't suffer too much.

The Sherpa Says: If Navi lives for another year it will be to protect the investment of VCs other investments.....Sorry it had to come to that, but hey, that's business.....Now the real question lingers......When Navi goes, who will own the computerized records of its research participants or its customers?

Author smackdown....Sorry Dr Kari

I just received an email from Annals of Internal Medicine and I see a letter to the Authors from Dr Gulcher and Dr Stefansson. I chuckled to myself because I just finished writing a letter to the editor and had another published in Nature Biotechnology entitled "In Need of a Reality Check"

Why did I laugh? Letters to the author or editor are written to clarify issues or problems with articles in a NON-Peer Reviewed Manner. They are done to make points for the avid readers of the Journals.

It turns out that Doctors Jeff and Kari have found fault with an Article published by Dr. Ridker and Dr. Paynter PhD.....this article showed that the addition of 9p21.3 SNP data to the reynolds risk predictive model, which already includes family history of early heart disease and CRP markers....

This addition of a highly replicated SNP data ADDED ABSOLUTELY NOTHING to the predictive value of this current predictive model.  This is no surprise to me. You essentially covered almost all of the genetic factors that add big risks......blood pressure, cholesterol, family history, smoking proclivity.....so why would this test add anything????

Which brings me back to the issues.

1. Dr Gulcher and Dr Stefannson work for a company selling a 9p21 medical genetics test.

2. They think that the study is skewed because the study population is 50 year old caucasian women. (BTW, this is the hardest population to predict risk for)

3. Gulcher et.al. think that a higher risk population would benefit from their test.

What is funny about letters to the author is the fact that the authors get to defend themselves and often have the last say.....So what did the authors say about these arguments which were posed by the Chief Scientific Officer and CEO of a company which is selling the 9p21 test (Sarcasm included)?

The Author, Dr. Paynter says

1. The argument that reclassification would occur more often in high risk patients has not been proven and is presumptuous.

2. The studies cited for support by Dr Gulcher and Dr Stefansson didn't examine whether the reclassification was more accurate.....i.e. if it is a misclassification, does it count as effective? Not so much.

3. The utility of the Net Reclassification Improvement is valid and that the attack offered up by the deCode team misunderstands what the NRI really is.....

All in all, Dr. Paynter laid the smack down on the Doctors from deCode.......

BTW, this study is great evidence as to why the bar is so very high for reclassifying patients with any risk for heart disease based on anything other than those which increase the risk greater than the current non-genetic risk factors....

The Sherpa Says: I remain convinced, predisease risk prediction based on SNP data is much weaker than current clinical tools.....WHICH HAVE BEEN STUDIED FOR DECADES!!!! Not less than 2 years.....Newly discovered risk markers will require 5 to 7 years to validate and another 5 to be implemented....Plain and simple.

RIP Richard Grasso

Yes,

Richard Grasso. No not Dick Grasso. Rich Grasso, a good friend and uncle died Thursday. Since then I have been struggling to find meaning in what I do.

My Uncle, well, my uncle-in-law, was one heck of a guy who lived life to the fullest. He had so many friends. I remember meeting "The Family" when I was dating my wife and how scared I was......Richard said, don't sweat it, we don't bite......except for Nanny.

He always had a way of making me feel warm and loved. He gave the best hugs and always gave great advice. Unfortunately, he died because he forgot to do one simple thing. He forgot to wear his seat belt. He was thrown from his car and that's what killed him.

It seems to me, after this swine flu thing and now with my uncle.....all of this overbloated hype about genomes saving the world.......is a little too much.

If you look at the fatalities data in 2008 it is crystal clear that the people getting their genomes scanned should pay more attention to whether they are driving safely and buckling up rather than spitting up. Sure we are reducing the rate, but how many really have to die?

Not to say that genomes aren't worthy of study. They are. But Today I want to make sure that each and every reader of this blog, buckles up when they drive. That they forget about using the cell phone in the care. That they decide not to cut off that other driver.........or just stop rushing to beat the light.....

If we all just did that for one day, we could save more lives than any amount of genome scans could......

The Sherpa Says: God Rest Richard Grasso, please learn from his mistake. Drive safely, drive as if getting there late mattered less than getting there alive.......

Friday's Doctor using clinically unvalidated tests...

Dr Turrisi,

An otherwise fine doctor, I am certain, has decided to use a clinically unvalidated tool in his practice. It is known as the Navigenics Health Compass. You can find him here. Or here on Vitals.com

Like I said before. I will highlight each and every one of these doctors who are using a clinically unvalidated tool to treat patients. Since Navigenics has decided to put it on the record. I will as well. Dr. Turrisi is one of 31 physicians in the MDVIP network who are using this test. Or at least claim to be.

Dr Turrisi is a Pulmonlogist and an Internist. He went to medical school in 1978. I wonder how much has changed in the field of genetics since then?

The Sherpa Says: MDVIP consists of 280 primary care physicians who serve more than 100,000 patients nationwide. I wonder why 10% are using this test? I know why 90% are not. What would you do clinically with different results? Could you do something differently based on the results?

In My Inbox........

I think maybe the government of Germany has been receiving the same emails as myself. You see, in case you missed it, Germany is banning Direct To Consumer testing of DNA. This is something that I have been covering for almost 2 years now.....not the Germany thing but the whole regulation of what could be construed to be the practice of medicine.

Why do I think Angie Merkel has been getting the same emails as me? Well, take a look at my inbox-

"There is a new comment on the post "How to Fake a DNA Test".http://www.eyeondna.com/2008/04/13/how-to-fake-a-dna-test/

Author: Scooter Jones Comment:If someone wants to fake a DNA test would it work if he put someone elses saliva, sperm or blood in his mouth prior to being tested.?"

A while back I said that people could potentially "fake" a DNA test, planting DNA at a crime scene, etc.

It turns out 'Ol Scooter is trying to figure out whether Sperm, Blood or Spit is the best way to go......Too Bad he doesn't know that it's awfully tough to "spit" sperm or blood into a vacutainer tube.......

Maybe he could just bid on one of those Whoel Genome Scans that KNOME is offering.........too late :(

These DTC companies better hurry up before the US does the same thing as Germany's law

"Under the law, genetic tests can only be carried out by a doctor and require the full consent of all parties involved.

In addition it prohibits the use of genetic testing for indications of a predisposition to illnesses that appear only later in life, such as breast cancer or diseases of the nervous system."

The Sherpa Says: With guys like Scooter out there, it makes a lot of sense to follow Germany's line. These days we seem to be pro-regulation anyways......... I think I hear Agent Smith at the door now.....

The Genome App Store.....

I was reading an article in the economist the other day, a good article mind you. It turns out that Drew Y was correct. It appears that the hype for DTC Genome scans is waning......

That being said, in the article George Church says something which sticks with me:

"Dr Church even argues that genome sequencing “will in effect be available free” because companies will give away sequencing to sell other services, such as genetic interpretation—much as mobile operators “give away” handsets to get customers to sign up for lucrative service plans. And when this happens, he reckons, “it will be just like the internet: once all this information is floating around, a lot of creative people with PCs will nose around and develop applications.”

Daniel over at Genetic Future put this out there. But it seems that the only discussion is about when the APP store will come to be.....Not if and how....

When I imagine genome applications for the next 5 years, the majority revolve around researchers......Why? That's where the market is. If you want to look at what Google thinks is a cool app, just look at the 23andMe site. They are doing precisely that. Developing apps.

I think GenomeApp is a good name here. Genome Tools on the other hand is a horrible name here. Why? Well, most of these things aren't really tools. They don't help you get work done by expending less energy.....

A programmer friend of mine tells me a story about the guy who created a facebook App which tells you your IQ. You answer some questions and voila! IQ score. It turns out that this guy just picked random questions, didn't scientifically validate his design and put out an APP, which tells EVERYONE, that they're a genius.

It turned out millions of people took the APP......Millions

Is that what we can expect from the genome APP store?

“it will be just like the internet: once all this information is floating around, a lot of creative people with PCs will nose around and develop applications.”

Yeah, just like the IQ App.....

What is the DTC SNP app that is being sold right now? Risk prediction about heart disease, stroke, diabetes etc....

But, it turns out that these "APPs" add absolutely nothing to the clinical predictive models for these diseases......

That being said, there are some non-medical uses that people find excellent. These predominantly lie in the realm of ancestry tracing. A very cool and perhaps useful tool. But this APP took years to create, not just a bunch of programmers hacking around and making "APPs"

I think George is a little naive here, or he seriously thinks it is ok to create Crap APPs and put them out there for consumption.

In this case, I wonder if these new Genome disease prediction APPs will be just as good as the IQ app....

The Sherpa Says: Everyone is free to make crap, everyone is free to buy it. But it is also the responsibility of the public health officials, press, medical and scientific communities to scream from the rooftops when the Crap could be harmful. Rather than play the game "All Ships Rise with the Tide"

Death Knell to DTC Genomics?

I was sent this article 6 times in the last 6 hours by friends and colleagues.

What's the article? "Genes Show Limited Value in Predicting Diseases"

I say deathblow to the DTC Genomics, because this article points out the issues surrounding using this limited information......

"This method, called a genomewide association study, has proved technically successful despite many skeptics’ initial doubts. But it has been disappointing in that the kind of genetic variation it detects has turned out to explain surprisingly little of the genetic links to most diseases."

What are the majority of reports you can get from 23andME or Navigenics or DecodeMe?


Reports which rely on "GENOMEWIDE ASSOCIATION STUDIES"


Not that there aren't any great genome wide associations......I think of Age Related Macular Degeneration for one.......but for every great study, there are 20 crappy studies. Which, to the unskilled observer could be made to look just as powerful. And then Silicon Valley Style Hyped, to make it to market.


I repeat, the utility of GWAS studies in Public Health NEED to be studied. Just like they are with the Coriell Personalized Medicine Collaborative.



But selling this information to people at a cost of 400 to 2500???? Sketchy at best!

From the NYT article...

"These companies are probably not performing any useful service at present, said David B. Goldstein, a Duke University geneticist who wrote one of the commentaries appearing in the journal.
“With only a few exceptions, what the genomics companies are doing right now is recreational genomics,” Dr. Goldstein said in an interview. “The information has little or in many cases no clinical relevance.”


Which is why I am aligning myself with some good People from Long Island who have been shouting this from the rooftops for about it.

A great example is this perspectives article precisely about this topic in the New England Journal of Medicine this week!!! (Only 3 this time Daniel)

Useless DTC Genomics? Not exactly. Someone is making money and has some use for it.......


The Sherpa Says: A good clinician saw this coming from a mile away. Why couldn't Venture Capital? Or the Public? Or the Scientists???? Funny, I just gave the same lecture to medical underwriters for the life insurance industry on the 14th,,,,,,

A week away.

It really is amazing how a week away from things can help bring clarity to what is important in personalized medicine. So often I find myself getting wrapped up in what the press has botched or what PR firms have planted into "news"papers only to be further convinced that the press is dying a slow death relying on these PR types to fill empty space on the pages of their prints.....

So what is important to personalized medicine and its future? I have come up with a short list. Including a question to spark your thoughts.... For those business types who read this blog.....maybe you have been thinking about a startup....here's your chance.

1) Patient Centered Tools that matter.

Everyone ooooowed and awwwwed at these at home spit kits as a means to gain insight into one's innards......but that is a load of $h!t. The best tools include things like at home BP monitoring, Glucometers, and access to clinically validated risk calculators, like the Reynold's Risk or Framingham risk calculator for Heart Disease or the UKPDS and CDC diabetes calculators

Even with these things, who will teach patients how to interpret them?

2) Access to physicians who get it.

This may seem like a no-brainer, but with 2% of the most recent graduating medical school class going into primary care and nearly a third of PMDs contemplating retirement, we could have a big problem. Some solutions include NPs and PAs, but they will both tell you emphatically that they are not trained like an internist/pediatrician/OB/FP is...... We could have a huge problem delivering care in the next decade if we don't fix this problem.....no amount of at home tests will allow you to prescribe Benicar to yourself...That being said, most doctors don't get this field either, so we have a double shortage coming up.......How can we fix that?

3) Patient Centered Communications with your physician.

Yes, we have a guy like Jay Parkinson M.D. out there twittering about what clubs he's at or what patients location he is at, but I am talking serious communication, like email consultations, telemedicine services, etc. Yes, I am certain Jay does that too....but we need a whole lot more of this: "Email to keep you healthy and OUT of the doctor's office." Unfortunately, most 80 year olds don't have email, let alone twitter.....How do we help the elderly???

4) Presymptomatic Tests that work.

Yes, finally, we need genetic testing done in a smart way. A way that affects patients directly, by helping them get the right drug or find their risk for disease. The other day I was giving BRCA results to a patient, she initially was in tears, devastated by her results. When I reminded her that she didn't have disease, she was healthy and going to live a long life AND HAD INSIGHT INTO HER GENETIC RISK FOR CANCERS........AND HAD CLINICALLY PROVEN OPTIONS TO PREVENT IT.......Emphasis on the last part........She walked out, head held high and felt very empowered.....By having all the DTC tests in the press, we often forget that there are a whole class of clinical tests that have some of this capability. We NEED more of these tests to bring this to fruition.....and it doesn't just have to be DNA......it could be radiology, or protein, or even just a DAMN GOOD FAMILY HISTORY.....

What happens when we can't get these things????

5) Medicines which are paired effectively with tests which identify who these drugs will work for.

After my round table with Aidan Power, I took away a great point he made. "We need to classify disease properly if we are ever to expect targeted treatments for these diseases"

I think that's roughly what he said in his Irish Accent.....

How do we effectively classify diseases? How can we do it quicker?

These are in essence, the blocking and tackling of Personalized Medicine. There are a lot of other nuances....but without these, this flower known as personalized medicine will die on the vine rather than bear fruit.

The Sherpa Says: Notice I didn't say 1) 100 USD genome scans 2) DTC SNP Scans 3) Social Networking sites 4) Preimplantation Genetic Diagnosis 5) an Electronic Medical Record.....

Why? These are the things being hyped in the press, but they are the furthest from the basics of personalized medicine.....Yet in the forefront of most of the publics thoughts about personalized medicine.

Truth in Advertising? Hello? Navigenics?

"San Jose Mercury News writer Chris O’Brien recently featured Navigenics in his write-up of Bay Area companies that are succeeding during this global economic downturn. His profile is a pleasant acknowledgement of all the hard work that has gone into creating the genetic testing service that is most recommended by physicians."

That from the Navigenics Corporate Blog.

Are corporate blogs a form of advertising? Because if they are I would love to see the statistical research done to prove that Navigenics' testing is the service most recommended by physicians......

I am certain there are many other clinically useful laboratories out their who would beg to differ with Navigenics' assessment of what physicians want. Sorry, Vance.

Can I get a little help from the FTC here?

The FTC is charged with protecting consumers from "unfair methods of competition" and "unfair or deceptive acts or practices" in the marketplace.(1) Although the Commission seeks to foster a national advertising environment that is both competitive and creative, at the same time, it requires that all claims be nondeceptive and substantiated. This is true regardless of whether you use print or broadcast ads or whether you advertise on the Internet.

-COMMISSIONER JANET D. STEIGER 1996

Does a contractual obligation from a physician management service count as one recommendation from a physician? Or just bad medicine from multiple physicians?

The Sherpa Says: I am glad that they are doing so well that they can buy a lab. But I am not glad they are lying on their blog :( With recent reports out, maybe next they can say that they are the service which enables criminals to steal your DNA less often...

Navigenics has a lab.....NYS will likely regulate this too!

Navigenics now is the proud owner of a laboratory. Congratulations! Now New York State has some hefty regulations for you. Otherwise, you can't test people in New York.....Pay close attention to numbers 4 and 5....

NYS Clinical Laboratory Permit Requirements
1. Qualified Director, PhD, 4 yrs post doc work.
2. Application and fee 1100 USD
3. Inspection
4. Assay validation
5. Compliance with all applicable statutes and rules

Assay Validation?????

1. Assay description

Suitable to guide authorized person in ordering the test

2. Consent process
Consistent with NYS CRL s 79-l

3. Analytical validity

Ability to detect and/or measure analytical target

4. Clinical validity
Documented association of analytical target with clinical condition or outcome

5. Reporting format

Interpretation suitable for non-geneticist

Clinical Validity????? Uh-Oh.....

Compliance with all applicable statutes and rules

NYS PHL Article 5, Title 510 NYCRR 58

1. Laboratories may perform tests only at the request of a "person authorized by law" to make use of the test results (physician)
2. Laboratories must report the results of the test only to the person who ordered the test
3. Laboratories may communicate with the tested person only at the written authorization of the ordering person, and then only to repeat the test results

So Much For Direct To Consumers.

Direct billing law

1. Laboratories must bill the person tested (or their insurance with authorization)
2. Provider to provider exception as between laboratories
3. "Facilitators" cannot receive funds from the person tested or pay laboratory service bills on behalf of that person

So much for Genome Broker websites.......

Anti-kickback

There can be NO fiscal or other incentives provided by the laboratory or other entity to the ordering practitioner

1. Payment of any fee
2. Employment
3. Provision of services to the tested person that would otherwise be provided by the practitioner

So Much for that extremely smart and very nice Genome DTC Business Development Lady in Redwood City who offered me tests at Wholesale for Resale at mark up......

The Sherpa Says: A lab is no quick fix for a bad business model or a company that is trying to peddle something as clinical which has NO PROVEN CLINICAL VALIDITY.......Clinical is probably not the way to go for these companies. I think Novelty test is the right way.....AND NOT clinical, until it IS CLINICAL......Too Early, Too Untested....and making everyone suspect of fields which ARE REAL like PGX....

I am sick of the Bull$h!t, Navi has a Lab and Dodd isn't responsible for AIG

Ok, so today is one of those little rant days. I am pretty sick and tired of companies, politicians and bankers......

It just plain stinks that our economy hit the skids. But we did a lot of this to ourselves. How?

Some say Greed.

Others say lack of regulations.

I say, we believed in Bull$h!t........Everyone was selling it...... That is what killed this economy.

Think about it, our intuitive BS meters were dropped a long time ago. Million dollar homes in rural America???? Sure, why not? Everywhere else prices are going up....

Only make 50k a year? That's ok, your house is worth that million.......We'll take that risk.

The same thing was true with Biotech and this new abomination of DTC.......

Have a technology that has no true clinical application, nor proven utility for informing people of risk????

Sounds great. Here's your term sheet.....heck, why not? Everyone else is doing it......

This type of overselling killed the mortgage industry. It destroyed the market......And like Francis Collins had said in the past, over selling personalized medicine is the quickest way to destroy its promise......

But, don't worry about me folks......My bull$h!t meter is back on and ticking.......That's why I laugh about Navigenics......A good friend of mine pointed out that they were hiring in Sacramento and it became very obvious.

A. They were starting a lab OR
B. They were buying Affy's lab

It became clear when they announced (Likely Early) that they were buying Affy's lab with the 6 million they had left from after their bender in SoHo.....

Ok, makes a ton of sense. Navigenics will need to make a clinically useful test.....but owning a lab is not the way to that.....the Scripps study is.........Which is why my Bull$h!t meter really went off the hook!!! Listen to this....

From Vance (Romance) Vanier.......

"For its part, Navigenics decided to acquire the clinical lab because the company has seen an increase in the volume of orders for its genetic screening service, according to Vance Vanier, Navigenics' chief medical officer."

Really? In an economy when people are trying to decide whether they buy their life saving medications or eat, there are way more requests for a suspect test which STILL COSTS MORE than 23andMe's "similar" test.....

Even richer is the fact that Affy would sell it to you. They spent 10s of millions putting it together, it is over 10,000 square feet!!! And just WHEN, do you expect it to start producing revenue for you on a mass scale????

You have to be either:

A. Full of Bull$h!t because you are looking to flip a company and need assets to sell it.
B. Blatantly lying to hide some other agenda
C. Crazy
D. Actually selling more tests.....but to whom? The Government? The military? Those are the only buyers I see out there......and don't they already have NHGRI????

He goes further

The increase in testing volume may be attributed to the launch of a cheaper service offering, a marketing partnerships with a physicians group called MDVIP, and a research collaboration with The Scripps Translational Science Institute, Affymetrix, and Microsoft to genetically screen 10,000 participants.

Ok. So the answer is you are full of $h!t because you are trying to flip a company.....

1. You guys just said it was hard to recruit people for the Scripps Study

2. MDVIP's CEO was extremely lukewarm when talking about the partnership

3. You service is STILL MORE THAN 23andMe's!!!


The Sherpa Says: DTC genomics, your venture teams are killing personalized medicine.....WHY??? Just like Chris Dodd, your VC teams are full of Bull$h!t. Even Medicare is on to you.....and so is New York State. When will we demand honesty from our financial organizations???

DTC Genomic tests? Who's that?

The American College of Physicians is perhaps getting the act together.....

Recently I sent an article to the ACP President Jeffrey Harris, I scolded him about how short sighted it was not to include topics on Genetics at the ACP conference in April. I still have received no response back from him......

BUT......

It appears the ACP is looking for Internists who have experiences with DTC Genomic testing.

Your thoughts exactly: direct-to-consumer genetic tests

ACP Internist is assessing how often internists are asked by patients about direct-to-consumer genetic tests.

Tell us about your experiences.
Learn more about the impact of direct-to-consumer genetic tests here and here.

They link to an article from Greg Feero. In which he says:

"This amounts to DTC marketing of the genetic equivalent of a full-body CT scan"

Is that what MDVIP is doing? Now imagine them doing the full body CT without a radiologists interpretation........ That is exactly what MDVIP is doing......

This is the image of DTC which will now be painted in the Internal Medicine Doctor's mind. Too bad that they will apply this image to ALL genetic testing :(

The Sherpa Says: ACP, you may be coming around.....but a 3 question Survey Monkey effort is hardly what I call real effort....

23andME to do research. One question lingers....

Did you guys catch that Sergey Brin is funding some research into Parkinsons Disease? It turns out that you can have all the money in the world and still get disease.......Or at least pre-disease...

"The study, will be conducted by 23andMe, a company co-founded and co-managed by Mr. Brin’s wife, Anne Wojcicki. The company offers a personal genomics service, in which it scans the DNA submitted by its customers and provides information on their health risks, ancestry and other traits."

There are a couple of issues I need clarified here.

1. Is there an IRB involved to govern 23andME in this "research"?

23andMe will establish a research advisory committee to guide such collaborations. 23andMe may grant researchers associated with partner organizations access to our database of genetic and other contributed personal information. We will ensure that such research partners obtain clearance from institutional review boards, as appropriate, and agree to maintain confidentiality consistent with our privacy statement.

But Not 23andMe. Just their partners.......

2. Is there a cost or coercion involved?

The people with Parkinson’s disease who enter the study would receive the same analysis of their DNA as other 23andMe customers, but would pay only $25 instead of the usual $399.

3. What is so unique about what they are doing?

“The only thing that is remarkable is that there is a very rich man who is going to fund it,” Dr. Stefansson said.

hehehehe.....Oh Kari......

4. Will the research involve special subjects, like children?

“Babies can’t spit into a tube,” Mr. Brin said

I am pretty sure you can fix that Sergey.........

The Sherpa Says: The Buddha is right........you can't escape death. Unless you realize that there is no gene. Do me a favor Mr Brin. Have your wife create an IRB for your new "Research Institution"

Over 200 studies! What is BS? What is Real?

With the advance of genome wide associations we need to collate them and evaluate them. A research physician associate of mine told me that on average 9 out of 10 association studies will eventually be proven incorrect. His research, not mine.

That is a pretty huge number. But it is with that mindset in which I review GWAS. What do I look for? How do I evaluate them? There have been some good articles recently in JAMA which illustrate some of the key concepts.

• In genetic studies, one potential cause of spurious associations is differences between cases and controls in ethnicity, a situation termed population stratification.


• Was measurement of the genetic variants unbiased and accurate?


• Methods for determining DNA sequence variation are not perfect and may have some measurement error.


• Do the genotype proportions observe Hardy-Weinberg equilibrium?


• Have the investigators adjusted their inferences for multiple comparisons?

I have several others to add to this list, but HUGENet covers most of them. What is HUGENet? It is the Human Genome Epidemiology Network and it is a "global collaboration of individuals & organizations committed to the assessment of the impact of human genome variation on population health & how genetic information can be used to improve health & prevent disease."

In essence this voluntary set of collaborators evaluates epidemiologically, NOT CLINICALLY, but epidemiologically whether a GWAS or other Genome study is valid. PLOS reviews thet workings of HUGENet in a nice article.

This is an important network to have.

In addition, EGAPP (Evaluation of Genomic Applications in Practice and Prevention) evaluates the validity and applicability of these results if they are attempted to be turned into clinical practice. This too is a consortium of physicians and scientists evaluating such tools. Genetics in Medicine has a nice article about the methods of EGAPP too.

It is important to note that these are not "in house" services. Why do I say that? Well it is a little cloudy if a company such as Navigenics or deCode is telling you that their tests are clinically valid......Why? Well, they are selling the tests. Doesn't that make you stop and think?

How does Navigenics review studies for clinical applicability? They have posted on it. In essence they require at least 250 cases and controls and have a limited requirement for independent replications.....unlike HUGENet.

Thus the quandary with "in house" statistical analysis for scientific validity OR clinical utility.

The Sherpa Says: If you want to know the skinny on any of these studies, you need look no further than EGAPP or HUGENet....rather than trying to make sense of it through your 23andME account or tursting deCode or Navigenics to provide "unbiased" evaluations.....