Another B.S. PR Move, Congrats Public Relations!

Ok,

To Quote Diane Sawyer "Is there any way that they could just report the diseases you can prevent?"

That was on Good Morning America today. I swear 23andME's PR firm has a plant in ABC.

So let me explain the clinical scenario. A woman walks into the OB's office carrying 30 pages of information on 90 different diseases. The super swamped OB has 15 minutes for the patient. In that time they need to go over sexual history, health history, anticipatory guidance regarding possible pregnancy, maybe perform a pap smear.....and suddenly, the OB gets ambushed with a 30 page hand out......


The Patient "Umm I was wondering, if I have a 1.37 Odds Ratio of having a heart attack, could I prevent my baby from having this?"

That is the story with 23andMe's new push for samples to sell to third parties....... errr sorry, I mean customers err......sorry I mean democratizing genomic testing.

That's right, they are going after pregnant women or women looking to become pregnant. In a move to fuse thenest.com with 23andME, in a hope to gain further samples by having women with a huge motive to protect their future, get DTC testing which in some cases may be clinical testing and in others, not at all..........

I am very happy this company has the PR power to motivate people to explore genetic testing options. I am not happy that they could pitch this as some sort of prenatal testing.

That being said, the OB community has been notoriously slow with some genetic testing, while amazing rapid with some others (SMA). And the OB often doesn't have the time or training to describe these clinical tests. Which may make this situation even more loaded with googling your genes.......

The Sherpa Says: I like alot of people am very mixed about this whole dump money into tests that may not be useful, but build the hype of genetic utility in order to "educate". On one hand it raises some awareness, on the other it may cause over utilization of medical tests or plain taking advantage of unsuspecting customers.....Time will tell what good the 2 gals at 23andME have done.......At least I already know all of the good that less than 1000 geneticists have done over the last half century. I put my money on THAT horse ALL the time.

Personal Health Record, Vital to Personalized Medicine

I am a huge proponent of Personal Health Records. What is a PHR? Let me first tell you what a PHR is not.

A PHR is Not

1. An electronic medical record

2. An always secure way to store your health information

3. Always compatible with other software.

I admitted a woman the other day to the hospital. She wasn't a patient of ours at Helix Health of Connecticut of CT, instead she was a patient of a group who we were covering. In the ED she handed me 7 pages of (typed in Times New Roman as a Word .doc), her Health Records. It didn't have lab values nor did it have all the exact results of the studies which she had. Instead this was HER record of everything that had happened to HER medically. It was written through HER interpretation, misspellings and all.

I wondered how long it took her to compile this information. I imagine it must have been at least a few days work, if not more. It was fairly accurate, but failed to precisely capture the data that I as a doctor was looking for.

This was her own creation.

There exist many of these companies on the internet today. You can order your PHR through a company or through Google. Although, with the security problems that Google has been having lately, I imagine perhaps a record stored on your USB may be superior......Maybe.....I am not certian about that.

I began to wonder, has anyone done any academic study on which way is the best to have your records? Just then, the weekly copy of the New England Journal of Medicine pops up in my mailbox.

In it was an editorial entitled-

"Your Doctor's Office or the Internet? Two Paths to Personal Health Records"

In the article, they talk about several topics which are salient and ask very important questions, which I hope someone will answer. They talk about a patient named Mary, a patient who is on multiple medications for her 4 chronic conditions.

1. As the baby boomers age and develop chronic diseases, the gap between patients' desire for information and physicians' ability to provide it is likely to increase. How will this gap be filled?

2. What if Mary could view her test results within hours after her blood was drawn? What would she do with the results*?(*is my question)

3. Unlike the stand-alone models, integrated PHRs are essentially portals into the EHRs of patients' health care providers. Is that important*? (*is my question)

4. Microsoft says it will seek patients' consent before sharing data with third parties, but none of these application suppliers are covered by HIPAA. Is that important*? (*is my question) what about CCHIT??

Here is my take. Well, before that let me clarify my stance on tech and health. Many feel that I am a detractor towards patient empowerment in this space simply because of my railing against DTC genomic companies.

This is simply untrue. I am a big supporter of PHRs and EMRs and patient controlled data. In fact I have advised several PHR companies on this and have even worked with an EMR company to find a way to amend its PHR applications.

This space IS the key to personalized medicine. Why? Well, for one, you are giving patients clinically meaningful data AND a plan to act on it. You are sharing responsibility for data gathering of information which has been PROVEN to be clinically useful.

You are not confusing your patients with stuff that likely won't matter in the end. Nor will it have close to the meaning of a good family history. Which is why Ancestry companies would be really smart to start working in this space.

The Sherpa Says: In the end, everyone will have a PHR. And in the end everyone will have a genome scan. Which will come first may well be a result of needing the other. Which will make more of an impact on health and wellness? Well, that's easy. The PHR.

Yale's Healthcare 2009 Conference and the Sherpa

I am preparing to speak at Yale School of Management's Healthcare 2009 conference. It looks to be quite a conference. The theme this year will be

"Where is the Value? Managing Cost and Quality in a Healthcare System Facing Reform."

From the site:

The Yale Healthcare Conference is a joint effort between the School of Management and the Health Professions Schools at Yale University that aims to bring together professionals, academics, and students to engage in an instructive interdisciplinary conversation concerning current healthcare issues. This will be the 5th consecutive year and we expect the conference to continue growing to over 400 participants.

The planned title and theme for Healthcare 2009 is Where is the Value? Managing Cost and Quality in a Healthcare System Facing Reform. This conference will focus on a theme of value in the healthcare system. The conference aims to address three principle questions:

1) How do we provide better care to more patients while keeping costs under control?
2) What are innovative public and private solutions to this problem?
3) What sort of opportunities and challenges will potential healthcare reform bring?

I think that this is a timely conference. With the administration supporting reform and already a record level of Medicare Audits in the system, it is clear that America will face a drastic change in the way healthcare is provided in this country.

My breakout session is on, guess what......

Personalized Medicine!!

I will be accompanied by Dr Aidan C Power of Pfizer.

Aidan's team is at the forefront of Personalized Medicine and PGx at Pfizer. Aidan has been addressing several issues and study design for personalized medicine. One recent example is the issue of race and ethnicity in PGX.

Aidan has even been briefing the Personalized Medicine Coalition, something we at Helix Health of Connecticut are proud to be a part of.

The Sherpa Says: Healthcare IS Changing. This conference is a great way to learn about some of those changes. I hope to learn alot!

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...

So Good that You Have to Break the Law!

I was asked today by a reporter if I ever gave the thought to the argument that the DTC tests were so groundbreaking, so very vital a technology that the LAWS HAD TO BE BROKEN.

For the betterment of society, these DTC companies HAD to break the law. It was their Moral imperative.

Really? Hmmm......let me see.

Francis is glad these companies are out there raising awareness about genetics. I don't share his thoughts.

1) These companies put their genetic data out as fact. Not exactly raising awareness in the right way.

23andME does rate articles, but that being said, it isn't exactly and independent evaluation. Navigenics gives you rates or likelihoods, which people often don't get. I say the awareness is often hype and confusion, not a true understanding. The recent Cogent study presented at SACGHS bears this out. Great! These companies painted a flawed and confusing picture for the public.

Shouldn't NIH/NHGRI/HHS and leading academic centers be doing the education of the public?

2) These companies broke the law for the betterment of society?

Ok, I ask how is society better from this testing. We now agree as a scientific community that SNPs aren't everything. They may in fact only be a little of the picture. With the recent studies showing family history and blood pressure as better predictors of MI instead of a VERY SCIENTIFICALLY VALID SNP. So I ask, how are we better because of these company breaking the law? We aren't. New York Agrees with me I am certain other states will as well

Sufferage? Yes, Change The Law! Jim Crowe? Yes, break the Law.

DTC testing of patients? Not so clear that it is a moral imperative to make a few quick bucks........on a clinically unvalidated tool.

3) Current research methods are flawed and thus 23andME breaks the mold.

Again, is this needed? Is it ok to violate current international agreements on research in the name of moral imperative? NO. Social networking research over the internet, I think Coriell is doing this. I am certain Academic Centers with IRBs can do this as well. If research partners have IRBs that is good. But if research is done on these companies own, they need an IRB. How is it ok to break these agreements and standards of research?

It is NOT OK.

The Sherpa Says: This bull$h!t argument that these guys are breaking the law as a moral imperative makes me double over and laugh. Is society that foolish to believe this? I for one am not.

23andMe says "We have no use for YOUR laws"

In an age where no one trusts anyone and we see defiance of laws for the sake of profit I am still shocked and awed that companies that are formed to "Not be Evil" or to "Benefit Mankind" choose to ignore laws.


In healthcare, imagine if your doctor was found to be breaking the law. Stole from Medicare? Non-Compliance with State regulations? Spousal Abuse? Selling Drugs?



Most of these are career killers. In fact in CT we just had a large group of GI doctors who are now not doing so well because one of their partners was just charged with endangering a minor.


Why is it so vital that physicians, nurses and others in the healthcare field try to stay above the law? Because patients lose trust in the system. They begin to think that their care givers are reckless criminals. And WHO would trust their life to a criminal???



Apparently, this stream of thought doesn't even phase a company like 23andME. You see, they are blatantly breaking the law in several states. Why? They are on a mission. Destroy the current healthcare system, shatter the current ethical way that we currently practice research!


Why? They think that the cavemen currently practicing healthcare aren't in tune with their goofy Singularity!



How do we know that they don't care about the rules? 2 ways.


1.) They are actively doing research without abiding by the international "rules" for ethical research. They have no IRB and are coercing their participants by charging them money.



2.) They have said F~c& you to New York State by flaunting loopholes in their laws governing labs. In fact, NYS had asked them to destroy the samples which they had collected ILLEGALLY at a Fashion Show Spit Party.........In fact they post the loophole on their website



23andMe is currently unable to process saliva samples collected in or mailed from the state of New York. The New York Department of Health considers our Personal Genome Service a test requiring a lab license and direct physician involvement.


"If you or the recipient of the Spit Kit intends to collect your sample and mail it from outside the state of New York, please select the 'Ship to New York' button. … Upon receipt of your Spit Kit, you or the Spit Kit recipient will be required to affirm under penalty of law that the sample for the Spit Kit has not been collected in or mailed from the state of New York."


I watched the NY State presentation at the Recent SACGHS meeting. The woman seemed pretty pissed off at 23andMe's flaunting of these rules. In addition, she said that if they wanted to have any more spit parties, they could come up to Connecticut.....


But what she doesn't know, is that CT's laws are pretty clear about DTC testing as well......



IT IS NOT ALLOWED..........But that's not stopping the criminals at 23andME......



According to a 2007 survey by the Johns Hopkins University's Genetics and Public Policy Center, Connecticut, Pennsylvania, and New Jersey do not allow or limit DTC marketing of genetic tests and require tests to be ordered by a doctor.


23andMe offers its DTC service in these four states neighboring New York.

I guess they don't care about Connecticut's laws either..........or California's or Pennsylvania's of New Jersey's. I could go on and on here.



I have a big issue with companies looking to play doctor without going through the process of being a doctor. Or playing clinical laboratory without taking any of the responsibility of being a laboratory.


The Sherpa Says: DTC genomics companies in this current form are breaking the law and could care less. Why did I point out the insurance fraud going on at major academic centers? The same reason I warn state governments about the flagrant disrespect of these laws. You cannot effectively practice medicine when the "Chain of Trust" has been broken......

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....

Navi's New Job

In case you missed my recent posts about Navigenics and 23andME, let me recap.





1. They lost their CEO. Who was in essence an executive in residence for one of the venture firms funding Navi. I.E. Kleiner was running Navigenics to begin with.....





2. I predicted that by the summer these companies.....Navi and 23andME would show whether they were going clinical or way of the novelty test....Surprisingly 23andME continues to thumb its nose at academics, by launching research without having its own Institutional Review Board.





3. With 23andME now doing BRCA testing, while Sacramento SLEEPS, or is underfunded.....it is clear their intention is to go clinical and clinical research without taking any ethical or professional responsibility....





4. It is now clear Navigenics will go clinical, looking to recruit it's own lab staff........Where?





Sacramento.......





Who needs Ladders.com when you have Craig's List





Navigenics is a start-up company with headquarters located in Foster City, CA. with funding from three of the top Venture Capital Firms in Silicon Valley. We provide personalized health profiles for customers based on their genetic makeup. For more information see www.navigenics.com.





POSITION OVERVIEW


As a member of the science team, the Clinical Laboratory Scientist will help establish the clinical testing arm of the Navigenics Laboratory which is located in West Sacramento, CA. This position requires knowledge of clinical testing and the ability to be trained in molecular biology techniques, laboratory processes, specialized medical diagnostic laboratory tests, blood test procedures, and medical terminology in order to perform specialized medical laboratory diagnostic tests.





Wait a second........





Navigenics has a clinical lab? Really? I thought they were not doing the testing???? That was their half baked excuse right? Affy, does our testing, so we are exempt from CDPH.....





Well, maybe AFFY's lab is this lab? It IS in Sacramento...but then, why would Navigenics do the hiring????





Is this to appease New York? who has yet to let DTC enter the Empire State!






The Sherpa Says: If the genetics community allows this to happen, I will be surprised......Nawhhh, they are trying to write grants rather than stop the barbarian hoards.....Navi is going clinical, 100% certain of that now. Will they at least take the responsibility which the billionaire predisposed to Parkinson's won't?

HT: BC

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"

Europe plans on regulating DTC....US is Studying it.

Interestingly in a news article in the European Journal of Human Genetics, it seems to me that even the people arguing against regulations are doing so in a very "Not so convincing way"

Those that are arguing for regulations are making a clear case. My guess is that they have been the ones arguing for about 30 years......so they have a little experience with ELSI issues in genetics....

The end of the news article makes it clear that at minimum, there will be a place for genetics professionals in the governmental regulatory organizations to develop such guidance. This seems to me to be a reasonable approach.

I have argued in the past that these companies should be getting regulated. And they should. In fact, there are already laws on the books to provide such regulations. You can call them old, or outdated or perhaps relics of a paternalistic age.......But that does not change the very fact that these laws exist.

So, if you want them changed, go to the government or vote. We have done such things. Think Repeal of Prohibtion.......But it seems to me that the government at least in Europe is looking to bone up on its own genomics expertise and my guess is that they will load their panels with those less apt to agree with DTC.......

Now with President Obama looking to evaluate effectiveness of technologies for healthcare, the issue with DTC and "Personal Genomics" is bound to be brought up......It looks like NEIHS is already gearing up to study it....

So is the President and NIH

02-HG-102 Direct to Consumer (DTC) Personal Genomics--Ethical, Legal and Social Implications Research. Direct-to-consumer marketing of targeted genetic scans for particular disease mutations and for ancestry-informative markers has been available for several years, and a growing number of companies now offer direct-to-consumer (DTC) personalized genomic services based on more comprehensive genomic analyses. The emergence of these DTC genetic testing services raises many issues: Are such services a generally positive advance that empowers the public, or are they premature? What is the potential for consumers to be educated, helped, confused, or even misled by these services? How do those who use these services react to the information they receive? How do health care providers deal with this information? Research is needed to address these and other issues related to DTC marketing of genetic tests. HHGRI Contact: Dr. Jean McEwen, 301-402-7997, jm552n@mail.gov.nih

The Sherpa Says: Don't you think that HGP should have spent more money on this?

Experimental Man Debuts!!!

I am so happy to know David Ewing Duncan. Aside from him appearing on one of the CliniCasts last year (The day former president G.W. Bush signed GINA into law) he is a great writer and has been in the thick of the San Francisco Genome Scan Craze.

David has been talking about gaining greater insight into one's health for quite a while now.....

Finally he takes the time and puts his adventure into a book and a website.

The Book, Experimental Man is already on sale at Amazon! He debuts this book next week in New York City. I will be at his book signing and wish I was at his Today Show interview!!!

What is the Experimental Man? Well a brief read of this excerpt will give you some insight.

David has been doing all sorts of experiments on himself. From Exposing himself to Mercury and Surviving (Take That, Jeremy Piven.) to Functional MRIs, consumer and academic genome scans. David serves himself up as an investigator. This allows you to become a voyeur of self exploration.......

David's Website is a rich resource for information. From Leo Trasande, a guy who was a fellow while I did my internship under him at Mount Sinai to finding out your Brain Age.......

If you haven't thought about what the ramifications of finding out about your genome are, David is a great test subject.......and a pretty good blogger.

If you have time to read a book, this should be one of your first books in the personalized medicine space....

The Sherpa Says: David, Congratulations. Your book will be a very useful resource for the masses who want to learn more about themselves....and you.

Why Is Healthcare so Expensive?

If you want to have any insight into how complex and horrible the medical system is, then you need to set aside 24 hours and read this.

If you pay someone to create these sorts of manuals, you should be paying someone to read them.....otherwise, who will follow the rules?

The short answer. No One.

That is why President Obama is auditing doctors at an alarmingly higher rate than has occurred in the past. No one is following the rules......even the insurers that make the rules.

How in the world do we expect to fix a system mired in this much red tape?

Oh.....don't worry. The INTERNET will fix it........yeah right......

The Sherpa says: How can the government focus on effectiveness without focusing on the effectiveness of its policies and procedures? They can't. Which is why audits are up this month.

Sanjay say Wha?

Dr. Sanjay Gupta, CNN's chief medical correspondent, has withdrawn his name from consideration as surgeon general of the United States, he said Thursday.

That's too bad. At least he had been pharmacogenotyped......

I wonder who they will nominate next? Kevorkian?

I was surprised that he was nominated in the first place, but actually looked forward to it.

Why did Sanjay go?

"I think, for me, it really came down to a sense of timing more than anything else," he said. "I just didn't feel I should do that now." Watch Gupta explain his reasoning »

I would do the same thing Sanjay.

Duh!!! For at least 5 years we "knew" this!! PPIs and 2C19

In case you missed my further rants about how everyone on Plavix should be tested for 2C19 polymorphisms, often splice site changes, which could hinder the effect of plavix......Now a big fat , No Duh....comes out in the Journal of the American Medical Association.

Let me lay the ground work.........

Plavix, one of the top 3 medications in the world

1. Prescribed to prevent a second heart attack or stroke


2. Prescribed to prevent a clot forming in a coronary artery stent, which one often receives after having a heart attack


3. Given in patients with PAD

It turns out that in order for this medication to work it needs to be converted from Plavix into its active metabolite. This type of medication is called a Pro-Drug. There are others like this, including tamoxifen and codeine.

Well, the enzyme which converts Plavix to its active metabolite is called CYP 2C19. We have known this since 2000. A professor of mine actually published on this back then. We even knew about so called "Plavix resistance" .

We know theorize that Plavix resistance is mainly due to polymorphisms in CYP 2C19. This has been studied since 2000, but only recently came to major light with articles in Lancet, New England Journal of Medicine......and my rants on this Blog and in Lectures at Yale and Affiliated Hospitals....

Now........the fly in the ointment....

Proton Pump Inhibitors(PPIs) like Prilosec and Protonix........Are available over the counter since they are so "benign"......

Well, we have known and studied since 1997 that Prilosec inhibited 2C19's ability to biotransform other medications.

So what about allof the people taking BOTH Plavix and PPIs? Let me guess.... the results are like the data in 1997!!!!! That patients receiving both medications have little Plavix effect and decreased platelet inhibition.

Well, that was shown in 2006 and even some preliminary data in 2004.

So one has to ask, well why haven't we put anything on the label? Why haven't their been huge warnings....even more so....how many people are on Plavix and PPIs? The pharma companies know.......how come they haven't warned people pre-emptively that there "May be a problem"

The FDA always asks how much evidence is enough.....but now with the study just published in JAMA it is painfully clear.....we have missed the boat by requiring TOO MUCH PROOF!!

What does the study say? Those who are on Plavix and Prilosec are 27% more likely to have a recurrent hospitalization or DEATH from acute coronary syndromes than those NOT ON THIS COMBINATION!!!

AND, 2 of 3 people in this study on Plavix......were ALSO on Prilosec!!!!

This study was a retrospective study which does have limitations, but has me asking why do we have 3 years of data on this combo 2003-2006, when we knew that there may have been a problem back in 2000????

Why didn't we do a better post market analysis?

What's even worse......people advocating pharmacogenomics are getting push back from lazy clinicians who are asking for randomized double blinded studies to PROVE this problem.....

But here's what they don't know.....the pharmacology literature is robust with Pgx data, just as it was with PPI 2C19 inhibition data....Too bad doctors don't read pharmacology literature....

Anecdotally, when I was a resident, I pulled all of my patients off PPIs that were on Plavix. What did I do? I did a med reconciliation and became aware of the possible interaction.....In this case it was NO BIG DEAL to put them on H2 blockers instead......

Primum Non Nocere.......not PRIMUM RANDOM DOUBLE BLINDUM.....

This just pisses me off.........9 years to come to clinical light........That is a damn shame, That may also happen with Prasugrel....

The Sherpa Says: Why do we as physicians wait for a large organization to say stop, when we have the education to figure out from the literature when we should have stopped? Or for that matter, when we should have started......the burden of evidence has been overcome here.....Unlike SNP Scans.......

Sign of the Times? Or just bad management? DNAPrint closes up shop.

Genome Web reports yesterday that DNAPrint goes bust.


Who was DNAPrint and what did they do?


Who?




DNAPrint Genomics, Inc. is a cutting edge company. We are concentrating our efforts in four distinct areas; Pharmacogenomics, Forensics, Genotyping, and Consumer Products. Our aim is to continue to research and develop novel products and services in each of these market areas and to be a leader in genomic-based technologies.


The Company’s core patent applied for and proprietary technologies for efficiently targeting single nucleotide polymorphisms (“SNPs”) enable us to provide novel predictive genetic tests at a significant cost advantage over our competitors.


What did they do?





Four things really





1. DNAPrint®'s genealogy product, ANCESTRYbyDNA™ 2.5, is a pan-chromosomal assay for genetic ancestry. The test surveys 176 Ancestry Informative Markers (AIMs) to provide an inference of genetic ancestry or heritage.





2. PGx- We currently have several pharmacogenomic tests in development:





OVANOME™ - DNAPrint® scientists are working on a genomic-based diagnostic tool to match ovarian cancer patients with the most suitable form and dose of chemotherapy.


STATINOME™ - This test is currently being developed for the cardiac drug market, and is expected to enable a classification of patients as adverse responders or normal responders to a class of drugs known as “statins”.





3. DNAWitness™ will provide the percentage of genetic make up amongst the four possible groups of Sub-Saharan African, Native American, East Asian, and European. When appropriate, DNAWitness™ allows for a breakdown of the European ancestry into four components: Northwestern European, Southeastern European, Middle Eastern and South Asian. The names of the components/groups is meaningful but not exact, since they are cast in modern-day terminology but the assay is an anthropological one that reports affiliation with populations who share common ancestry extending back many thousands of years. The real value of the percentages reported are as population (rather than individual) bar-codes, which are very useful for inferring certain elements of physical appearance.





4. Paternity-DNAPrint® genomics, Inc. provides an affordable, confidential and accurate screening test service for paternity. Our paternity test is processed on ABI 3700 and 3100 equipment, state of the art analyzers that measure the Short Tandem Repeat (STR) units.

This sounds like a lot of companies out there today.....Some are faring better than others....

Whatever your take.....if these guys, who had customers couldn't hack it.....what's to become of those who have no customers???



Hopefully those analysts didn't take this presentation of theirs to heart.....or maybe the did?





The Sherpa Says: Hard times are coming, most biotech companies have less than 6 months of cash on their books. Somehow I doubt that the next big SNP study will lead to any more success than DNAPrint saw....

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.....

New Family History tool to Debut

It's as if everyone in the technology land had been hearing my cries!

"Family history is the cheapest and the best whole genome scan we have!!"

The Government fixed theirs others are working on it as well.......

With the potential in ancestry companies to turn their tools into family history gathering machines we are now seeing a big shift in focus from merely ancestry to ancestry AND medical history. One great tool that is coming comes from a website called ItRunsInMyFamily.com

And like every self respecting entrepreneur looking to boost SEO, they have started a blog.

But what's even better, they beat me to the punch when comparing genetic testing versus family history...

They pit them head to head.....

From the blog:

Breadth of Diseases
Over 6,000 known single-gene disorders. (This does not include multi-factorial diseases) “Every human disease has a genetic component.”

Family History: Can track an unlimited number of diseases. Any disease that has an inherited or genetic component can be listed on a family health history.

Genetic Tests: ~1,000 clinically relevant genetic tests available today. Most are for single-gene disorders, few adequate genetic tests are available for multi-factorial diseases. Direct-to-consumer (DTC) genetic testing services (# of diseases): 23andMe (26), deCODEme (35), Navigenics (23), Myriad BRCA (2).

ADVANTAGE: Family History

The result?

You'll just have to read their post!

The Sherpa Says: with all of these fly by night and limited clinical utility genotech companies out there, it is sure nice to see someone with good business AND Clinical sense!!!

HMO Man!

Must Watch This Video!

Interesting times we are living in.

Food For Thought.

The Sherpa Says: Mandates are only as good as the people who create them.