Saturday, January 31, 2009

Razzle Dazzle 'Em Part Deux

I was reading Daniel's Blog and this person's comments caught my eye...

"The marketplace for genetic testing is basically an uneducated one (with the exception of people who are really excited about it)."

I think she is right. To do the education to get someone to use this test will ultimately make them not use this test...because once you can understand the implications, you could understand that these tests are of limited value.......unlike Pgx testing...

Caveat: I like the people at Navigenics. I think they have great scientists. BUT, I am extremely skeptical of any physician who is working for this company to promote tests which are not clinically validated.....

To continue...

She then goes further....

"Add to that, Navigenics also wanted to offer disease related testing (I'm leaving the question of clinical utility aside here since the only people who have thought usefully about that are the deCode folks, and apparently not the Navis, 23s, etc.)

So, they realized that to keep an uneducated customer happy while contemplating medically related information, they were going to need to make it easy for that person to pick up the phone and talk to an "expert". "

Spot on......too bad the expert is a genetic counselor who has no medical training in explaining heart disease, multiple sclerosis or anything other than cancer, prenatal issues "Family planning" or monogenic disease.......the model that they were trained for.... What would you do with a woman who had a systolic BP of 136 Elissa? Could you suggest anything?...Wouldn't it be smarter if they actually talked to doctors who understood what these tests meant and who had cared for people with these diseases???? And even with clinical utility aside, deCode has failed to prove clinical utility of their tests.....

The commenter is wrong again down here........but in an extremely correct way......

"That's what they got right. Personalized genetic testing is not about the test, which is a commodity, or the "report" which is useless to most doctors, mothers, etc., but the information, which is currently best conveyed through a person who can answer questions. And people cost a lot of money, thus the ridiculously high price."

Exactly, the cobbler issue.....but I doubt,

1. That the genetic counselor is getting paid 2000 per consult. If you subtract the costs of the test from the charge, that is what you get.....

2. That the counselor is even close to a replacement for a physician....not even close when it comes to adult disease management.......

But she is absolutely correct. It costs a lot to speak with someone, which is why VC always hated Helix Health of Connecticut's model of healthcare...Too bad for them. Patients are using it.....

Just then, she had an absolutely correct point, which is exactly what Navigenics hit square on the head......they were so right in this one way!

"Personalized genetic testing is about people getting attention they feel they need or want enough to pay for it, because they can't get it from their PCP anymore on their insurance co.'s dime."

This my dear is called concierge medicine and it is why Navigenics has partnered with the Internists and Family Practitioners of MDVIP........If not to bolster the impression that their unvalidated test IS Clinically valid (Very sneaky, guys)

But I wonder how MDVIP is doing, using these tests and charging patients for it.......since after all

1) In Navigenics Terms of Service, you can't use it for healthcare

2) Most Internists and FPs need about 6 months of genetics training to understand genetics

3) Most of the info in that report gives us no advantage clinically.

And then she nails the point home:

"Any company that can capitalize on that (regardless of whether the test is clinically useful or just hand waving) will have a market."

Have any of you watched Chicago? This is exactly what I call Razzle Dazzle 'Em.......baffle the people with bull$h!+ and they will think you are worth something.......Hell, it is how these companies were sold the Venture Capital in the first place.....

"Navigenics hit much closer to this mark than the other big 3."

I agree, hand waving and bull$h!+, precisely what this company is offering........otherwise they would have hired physicians to go over the reports with patients rather than genetic counselors....

That to me is the proof of what they feel is important........

For the millions they spent in NYC (there is no shop in SoHo) they could have had Geneticists and Internists who actually get this stuff. They could have them hired at 130k per year.....what's that? 10 Doctors who know what they're doing for a year or 20 counselors who won't tell the patients that they wasted their time on clinically useless testing?

Oh wait.......last time I checked, Navi didn't even have more than 3 counselors doing the clinical work. So if Navi is so into the clinical side, why didn't they hire enough people for the job......Nor did decode or 23andMe..

Oh wait, maybe they have? All 3 have an extensive marketing team and web development team.............. deCode , Navigenics , 23andMe
All are looking for more......

As for the commenter? She works for a company who provides services around bead technology.......

The Sherpa Says: All 3 of these companies are struggling to find I have said before, no one knows the true value of these tests yet. Which is why they should be a rigorous, IRB approved fashion, not anecdotally........Dietrich, you should have had your team listen to me about a year ago when we spoke......I could have gotten you there quicker.........One test is called a one hit wonder....a worth so much more.

Thursday, January 29, 2009

Navigenics does market research, finally.

Thanks to Daniel for posting my comments about Navi's gaffe

Even with Francis saying he is happy with DTC, with one major caveat, that they are doing it responsibly and some unbiased party has the chance to review and rate their tests....

You would figure those who can withstand the economic downturn have a chance of mild success. But I am not so sure about the ROI here......

Example Navi: Who didn't know this was coming? I sure as hell did when I sat with their marketing team and they asked why I wasn't ordering their test....

I told them that I had patients paying less for our services for the year than for their test....Prior to that I saw their marketing survey on Gerson Lehman Group....thank for the quick cash Navi! There was the first time I saw the"scaled down test for 500 dollars"

IMHO, it was a non starter....Now for 499 and a year's access to your is STILL a nonstarter.

In a short amount of time the price of these tests will be Zero Dollars.....

Those who survive this little pricewar will realize that the distribution platform matters way more than any individual test....

Too bad the 30 or so VC firms we spoke with didn't want to believe, it looks as if Amway or MarketAmerica may be a better investment after all....

But in all seriousness, these companies have a choice over the next six months...

1. Go medical with PgX and get the hell regulated out of you (No, Schmidt cannot protect 23andMe)

2. Go Novelty, with ancestry, innate traits, etc.

3. dissolve the testing and turn into a platform...

The Sherpa Says: All that glitters in this DTC space has been and will continue to be fools gold for at least the forseeable future.....No matter how many cocktail parties you throw SoHo....

Wednesday, January 28, 2009

Plavix, Plavix, Plavix

I just finished up giving a Yale Affiliated Hospitals Lecture to a bunch of residents on the topic of pharmacogenomics. Not to toot my own horn, but several residents came up to me and asked......"Why didn't I learn this in medical school?" Even better was the 3rd year medical students who just finished up Pharmacology last year....they said "The EXACT SAME THING".......

Ok, so here's my beef. Why in the hell aren't we teaching this in medical school. I know I have said this before......but what in the hell is going on here? We have data and not just data , but DAMN GOOD data....and instead we are still pumping JakStat pathways down the throats of our second year medical students.....

I have a very big problem here and I need it fixed. Why can't we get physicians who study PgX to teach this? It is simple really, I know many more doctors who like PgX than who like other sides of genetics.....why not let them in to teach these students????

I see no barriers other than cost of paying clinical faculty, which is always the barrier.....

That being said, even with the great Plavix data out there, we still have non believers....

An editorial in the Annals of Internal Medicine hints at it.

It gives me a reason to say bull$h!t

The title is an eye catcher which most busy clinicians won't read, but instead use the title as a guide post for attitudes on this subject....Trust me, I know clinicians who did precisely that.

You see, the problem with this editorial is that it should have been titled "9p21 to predict cardiovascular risk: Too Limited, Too expensive, or Too soon?"

I love how the Annals completely makes a hash of what Personalized Medicine is!

A quote from the editorial

"As these studies show, we are still far from personalized medicine."

I guess Dr. John doesn't see pharmacogenomics as part of Personalized Medicine

Or maybe he just doesn't read the New England Journal of Medicine......

Either way.....this is not a responsible way to publish a journal and disseminate personal opinion.

I personally think it is because the ACP (American College of Physicians) does not have good advice on how best to get its body up to speed on this stuff.

But I know this is not exactly true, because they sponsor Mike Murray's Harvard course on the Genetic Basis of Adult Disease, which has one lecturer on Pharmacogenomics

So why? Why did they fail to include personalized medicine into the ACP meeting?

Why did they let this guy give the opinion that disease prediction was the only thing in personalized medicine?

Why? I have no clue. But I would love to have someone from the ACP tell me.......


The Sherpa Says: Education, Regulation and Litigation will be the drivers of this field.....Not the Data......That is a damn shame. And yes, I did go to Penn State!

Monday, January 26, 2009

Harsh on All Fronts!

I am often accused of being overly critical....whether it is of the Genetic Counselors, or the Physicians, or maybe the Scientists. I am definitely critical of DTC and even more so of the Medical Geneticists....

In fact, I praise each of these groups at such a low rate, that many think I am looking to isolate myself from the entire field.....I am not. I just point out problems in our backyards so that we can clean them up.....

I was told the other day by a senior Geneticist that what I had done to the Genetic Counselors had then questioning their roles. I had thrown academic genetic departments up in arms, trying to now figure out how to bill legally for what they are doing....

Is that such a bad thing? To make people accountable for what they help motivate them to lobby extra hard to get paid what they should. Rather than break the law and just exist?

I strategically pick issues and attack them. I know that it upsets most who read this blog when they hear shortcomings in their own fields.
The pediatric geneticist who gets mad because I say they don't know what Plavix is.....

The DTC company who I say is "playing doctor" without any of the liability.....

The PhD Geneticist who says that I devalue what they do......I don't I just think we need not hype every little discovery....

My point is not to keep picking on is to help motivate us towards change.....

So I now will give you a rare Atta Boy.

1.) DTC, thank you for putting genetics into the public eye. Your millions of dollars spent on PR has helped raise awareness of genetics. Misdirected as you may be, the public is now aware that we can do genetic tests.....

2.) Human Geneticists, thank you for your tireless hours of work to discover new genes and new functions. We would have nothing without you. I can understand why you are so proud of your work and why it often comes across over zealously in the news....Thank you for your efforts,

3.) Genetic Counselors, thank you for working so hard to keep our field alive. When geneticists abandoned cancer genetics and you picked up the torch we needed you most. You have kept us true to genetic principles and spoke out against great atrocities. In addition, you spoke against false advertising.......Thank you

4.) Adult Physicians, you have felt the burden of my wrath most......but guess what, you have done the greatest thing of all, you have carried on the traditions of medicine and kept primary care alive this long....Without your work we wouldn't even have a thought of Personalized Medicine. Working long hours for continuous pay cuts by insurers, you have fought to keep patients cared for. How could you have the time to learn genetics?

5.) Medical Geneticists, thank you for caring for patients with monogenic diseases, studying new ways to investigate and care for them. To the small batch of you teaching adult doctors genetics, thank you. To those teaching medical students, thank you. We need you now more than ever.

The Sherpa Says: Now don't let that get to your head, we have a lot of climbing to do, so eat a big breakfast and let's get going!

Saturday, January 24, 2009

Wired, 30000 feet and the Plot to Kill 23andMe

So I was flying through the air Thursday morning after a meeting in Tenessee the day prior. I ended up picking some interesting reading. It is truly amazing how reading can give you insight into topics and how things may evolve and change.

This is why literacy is so key. It gives us the ability to gain insight, which is why I cry for America with its less than 40% health literacy and far less genetic literacy.....

But here was my list

1. Harper's "Sick in the Head" February edition.

This article discussed how Obamacare will not likely be a hug revamping of healthcare.....but what I found out was exactly how poised McKesson is to take over the healthcare system. You see, they process 1/3rd of all insurance payments, nearly 90 percent of all prescriptions....even more importantly, they are developing a clinical decision support tool for genetic testing called Cue4.....personally, I think they may give Generation Health a run for their money in this space.

2. Wired Magazine 1.19.09

Multiple articles here

A.) "The Plot to Kill Google"
In essence they describe how AT&T and Microsoft are going to attack Google on multiple fronts including privacy threats by having google collect all of your information.....


Hugh Reinhoff M.D. is genotyping his child to figure out what is wrong with confused why they didn't describe Chromosomal Microarray testing, which I am certain he did, but they left out......what was funny about this article is that the DIY testing was being carried out by a doctor, which they didn't play essence making you feel that anyone with a buddy in a lab or a garage sequencer could do this on their own....which of course is Wired's take on this complex technology anyways......

C.) "Live Free or Drown"

The long and the short of it: Libertarians looking to escape taxation and the restrictive laws in the US are looking to open water to rule themselves........Sound Eerily familiar? By getting out into open water and building land platforms they could escape governmental regulations......
Hey, wait a sec' isn't Google trying to do the same thing with their servers...........Maybe Microsoft is right. I wonder if Google will keep 23andMe's patient data on those barges?

3. The New Yorker "Getting There from Here"

Atul Gawande runs us through the history of nationalized healthcare in other nations.....He essentially says, these systems get built upon what already exists...Great article.....leaves me with the feeling that the government wants this data and to regulate the system.....My guess, they will open up Medicare to the young and unemployed...

Why did all of this give me insight? I think I know Microsoft's new battle ground.........poaching of genetic data from 23andMe customers and holding it off shore so that the government can't use HIPAA or GINA to protect these customers......

This battle between Microsoft and Google will end up on the side of the government winning. They will not let and healthcare data escape regulation, plain and simple. Which means, if they try to move the data, the plot could be to kill 23andMe...........

The Sherpa Says: We need healthcare reform badly, but if that means an excessive amount of regulation, then we could have a problem......Doctors hate regulation.....and it looks like Google does too.....

Friday, January 23, 2009

PgX and Warfarin IS cost effective!


So first off, I want to apologize to everyone. I have been out of the loop for the last 4 days. That's because I have been travelling to the Midwest and the South. I have been talking with companies that have millions of patients and companies who market to millions more.

Why? Because there is one thing and one thing alone that I have dedicated my life to.....

That is the Realization of Personalized Medicine. True my earth shattering news had to be put on hold....but it too is coming.

Second off, I want to speak to all pragmatic Internists who may have read the articles on the Annals of Internal Medicine which may have got you to believe that Personalized Medicine is not ready for prime time.........

They are dead wrong. You see, the Annals are the journal published by the same people that brought you the ACP scientific meeting without a single iota of personalized medicine or even genetics for that matter.....So it is no surprise that when the study a model, they don't actually know the price for pharmacogenetic testing.

Which BTW, I am proud to announce is being covered by insurance companies. Yes, that is absolutely correct! Genelex is getting coverage for these tests by several carriers! No if I only could get those bastards (insurance) to actually pay us for interpreting the results and caring for those patients!

So why is the Annals wrong? Recently an article was published which hinted that perhaps testing for CYP 2C9 genotype and VKORC1 genotype was only likely to be cost effective at 200 dollars per set assay. But alas, their model studied this data through MEDLINE searches and Markov state transition decision model....hardly the best way to evaluate cost effectiveness. Certainly a cheap way to do it, but I always thought case control would be a cleaner way to go rather than retrospectively.

That being said, the authors publish this well written article with some faulty assumptions.

1) Cost of testing at 400 USD. I know some doing this for under 200 USD

2) Meta analysis of 3 studies is ideal to make proclamations

3) That this testing is best for those who have a low risk of hemorrhage (bleeding from warfarin)

4) They used the rates CYP genotypes and VKORC1 genotypes of Caucasians!

So they instead selected criteria which likely would fail....Why did they do this?

We could ask Dr. Gage, who has received grants from BMS. The people who make Coumadin.

One thing is for sure.....the sticks in the mud will use this data to hide behind the fact that they don't know genetics. Even when they do this the authors suggest that PgX dosing could be effective....just like it was in the 3 studies the "meta-analyzed"

I am glad the authors note the limitations in their when you read about it in "the news" remember, a limited study produces results of limited value......which is why....

Pharmacogenomics is here to stay and the case for it will only get stronger this year!

The Sherpa Says: Brother Cotherman I look forward to seeing you again. Next time with a way to show pharma how they can truly benefit from good data! We are getting ready for our next part of the ascent.....Somehow I don't see how DTC Genomics is going to make this climb...

Tuesday, January 20, 2009

I am for MedCo's Snow

I was sent this article by a reader and I have to tell you, I see both sides of this argument. Have you heard? Dave Snow, CEO of MEDCO the largest pharmacy-benefits manager has stated emphatically

"I have no patience for a doctor who says, ‘I’m above it all, I don’t want to practice cookbook medicine"

He says this when doctors use the excuse that algorithms dumb medicine down and are only needed for PAs ans NPs.

Snow is pushing for pay for performance and uses physicians' lack of knowledge against them.

Recently MEDCO polled 1000 physicians about the CYP 2C9 genotype test approved by the FDA for Warfarin dosing.....guess how many knew about the test? 3....

Yes, that is correct......3 physicians. Do you see how this could infuriate someone who is not a doctor or who has trained in the system. As I doctor, I understand that medical school doesn't prepare you for genetics, I understand that Internal Medicine residency doesn't prepare you either.

So I have a much higher threshold to get pissed at people who have dedicated 12 years of their lives to study and learn how to care for human beings and get paid crap for it, unlike Mr. Snow or most corporate attorneys/accountants/hedgefunders.

However, even my patience does wear thin. Boy, imagine if you were paid an extra 100 dollars per patient that you know the genotypes and dose warfarin appropriately. Imagine if they actually taught about the VKORC1 variation in Asians versus African Americans and dose requirements......they don't even teach that in residency....

So, you want to fix the system? Punish the medical schools, not the doctors trying their best with what they were taught. If you want doctors to learn, pay for all of them to take 6 months off to learn genetics. Or pay them in a manner such that they don't have to see 20 patients a day or more to break even!

The system is broke, everyone is blaming each other, when the real problems lies in the system itself.

1) Doctors don't get paid the way they deserve, so to make the money they deserve, the system has turned into a volume NOT a quality system

2) Medical schools do not hire clinician teachers in genetics, therefore the PhD's teach this field. Inevitably boring medical students because the clinical translation is lost....assuming they actually teach genetics in medical schools less than 34 of the near 200 medical schools do.

3) Costs soar when you don't have the time to critically think and instead you use shotgun methods, which are less efficient than algorithms. But neither is true intelligence.

4) When we know patients' genomic make up we will be able to devise much more nuanced algorithms so Mr Snow is on to something, but........

5) Personalized Medicine is not coming without this education, therefore companies looking to profit from it, would be well served by teaching doctors....not trying to punish them...

The Sherpa Says: We need to stop blaming others in the system and work to fix the system. We will only get the whole story and solution by collaborating rather than punishing any side.....


Congratulations President Obama

Now that we have a new president many may wonder what will occur in the realm of personalized medicine. Well, the short answer is ALOT. Several things that the democratic majority in the house, senate and executive branch plan to enact.

1. Senator/President Elect Obama's Personalized Medicine Bill will likely pass or Congressman Kennedy's version. What does that mean?

He has proposed an interagency task force on genomics research, modernize FDA review of genomics tests and expand support to genomics researchers, including funding and creation of a new mechanism to allow researchers across the country to access and analyze genomics research. As president, Obama will continue to support advances in personalized medicine to help ensure early detection and treatment of cancer and other diseases.

The bill appropriates $75 million a year to establish a National Biobanking Initiative and another $26 million to "Realizing the Potential of Personalized Medicine".

This means greater regulation in the field....including DTC testing. Too bad for Rupert Murdoch but we are actually going to require evidence for testing...

2. Increased funding for Personalized Medicine in Oncology
Obama-Biden plan will help our health care workforce grow by expanding funding for loan repayment, adequate reimbursement, grants for training curricula, the Nurse Reinvestment Act of Title VIII of the Public Health Act, and infrastructure support to improve working conditions.

The Obama-Biden plan to double cancer research funding will also help recruit and retain clinical researchers who specialize in cancer by providing adequate funding for oncological study.

3. Obama will likely be having Francis advise him.... Can only mean good things.

The Sherpa Says: With an ailing economy, we need to invest in healthcare. It is the only resistant sector and it can lead us to better health outcomes.......

Friday, January 16, 2009

Personalized Genomics a Critical Review!

I just want to point everyone's attention to a great meeting that happened in December. I wish I could have been there. I still maintain to this day that Personalized Medicine does not equal personalized genomics.

In fact, in an interview I gave to Berci Mesko at Scienceroll, I talk about the differences between personalized medicine and personalized genetics. The scans are a tool we can use (maybe) for personalized medicine, just like all the other tools we have....

This meeting which was held by the CDC and NIH was for the sole purpose of reviewing Personal Genomics.

This 2-day workshop, cosponsored by CDC and NIH, explored the type of scientific foundation that is crucially needed to make the promise of personal genomics a reality. The workshop participants examined how the integration of genomics into personalized health can follow an evidence-based process. The process for using genomic applications in personalized healthcare (e.g. pharmacogenomics, early detection markers, testing in clinical trials) was discussed.

A few of my contemporaries were there and presented. I was excited to be able to see all of their slide sets out there. Thanks to Ken Offit for including my clinical presentations in there. We were certainly surprised at Helix Health of Connecticut to see such cases!

One of my favorite sets was by Dr Gregory Feero, a Family Practitioner and PhD who brings a primary care perspective to the group. He hit the nail on the head.

MD geneticists represent 0.18% of the 700,000 physicians in the U.S.

We identified only 1 RCT of a genetic testing intervention for a common condition that measured a clinical outcome -Scheuner JAMA

gizmo idolatry refers to the general implicit conviction that a more technological approach is intrinsically better than one that is less technological… Many gizmos make so much sense, in the absence of evidence or even the presence of evidence to the contrary, that their value or utility is persuasive prima facie."Leff and Finucane, "Gizmo Idolatry"

-JAMA, April 16, 2008

Finally, the industry pulls the veil back on how they calculate risk profiles.....imagine, someone sold the Venture Cap on some magical proprietary way to calculate risks.......

Well, here they are: Slides from the Big 3. They reveal how each one of them calculates risk......finally some transparency. Any VC who thought this was patentable/protectable is a sucker......It's medicine fellas!

At last I ask you to scroll back up the page and take a look at that slide. This slide is by Steve Teutsch, Chair of the SACGHS. That is where we are with Personal Genomics.....not personalized medicine mind you......Personal Genomics......

The Sherpa Says: Do you think the press has a case of Gizmo Idolatry????

Wednesday, January 14, 2009

Surgeon Generals Family History Redux!!!

Have you guys seen this yet? A reader let me know that the Surgeon General had officially launched the revamped site.
Family history is the key the tool that geneticists and counselors use to look for patterns of disease and heritability. Some people just pay attention to cancer, others focus on all diseases.....heck, I even look for history of adverse drug reactions in families. You never know what you will find, but if you look, you often find something.
The problem? It often takes a long time and information can be inaccurate. This is why counselors spend days on end trying to track down accurate records for cancer prediction risk.....This is time consuming and doesn't get paid now there is help.

Yes, after much adjustment and web-work, the Surgeon General's Family History tool is now much more than that. From the site:

What are the key features of the Surgeon Generals family health history tool?
The Surgeon Generals "My Family Health Portrait" is an internet-based tool that makes it easy for you to record your family health history. The tool is easy to access on the web and simple to fill out. It assembles your information and makes a "pedigree" family tree that you can download. It is private--it doesn't keep your information. It gives you a health history that you can share with family members or send to your health care practitioner

This tool is exactly one of several tools set to debut which allow patients to enter family history and email family members to collect further information. I am working on one as well, but ours is a little more than that......

CBS News covers the launch here.

"The goal: Just as people create ancestral family trees, create a family health tree. It may sound old-fashioned in this era of gene discovery. But genetics specialists use these "pedigrees" to look for patterns of inherited illnesses that can provide a powerful window on someone's brewing health risks. "

It turns out the tool has been piloted up in Boston.

But a small pilot study at Partners Healthcare in Boston suggests the digital potential. Embedding the e-family tree straight into software that adds in a patient's test and exam results produced a personalized report on cancer risk in minutes.

No surprises here. I have been saying this all along....Family history is the best genome scan available, the quickest, the cheapest and likely the most accurate.....

The Sherpa Says: Too bad V.C. can't make money off of this, maybe we would have NY Times articles about family history instead of SNP scans......Either way you slice it, the attention is good, provided you have a Sherpa to guide you up the mountain....


Tuesday, January 13, 2009

Another Steven (this time its Pinker) Comments on Genomics!

No I don't spell my name with a ph, but that is just one of a few differences I have with Dr. Stephen Pinker(Erratum, turns out he spells it with a V, just like me. My Mistake) , one of the PGP 10. His article that I read on Saturday online is now being read by millions in print.

Steven and I both are participating in Genomic Research. I haven't told many people, but I am a participant in the Coriell Personalized Medicine Collaborative. So I read his article with curiosity. Not only because he is a developmental psychologist, but also because he (like me) thinks that most behavior is inherited.

So I wondered how his response to having his Exome released would further "shape him".....and thus when my results come in how will they "shape me".

"All this sets the stage for what we can expect from personal genomics. Our genes are a big part of what we are. But even knowing the totality of genetic predictors, there will be many things about ourselves that no genome scan — and for that matter, no demographic checklist — will ever reveal. With these bookends in mind, I rolled up my sleeve, drooled into a couple of vials and awaited the results of three analyses of my DNA."

He preceded these comments by stating in essence that Genes aren't everything, but they are a whole lot....

Then he explains the probabilistic view...

"Only a portion of my exome has been sequenced by the P.G.P. so far, none of it terribly interesting. But I did face a decision that will confront every genome consumer. Most genes linked to disease nudge the odds of developing the illness up or down a bit, and when the odds are increased, there is a recommended course of action, like more frequent testing or a preventive drug or a lifestyle change. But a few genes are perfect storms of bad news: high odds of developing a horrible condition that you can do nothing about."

I imagine mine will hopefully be the same. I have family history of BRCA mutation but that won't be seen on my CPMC scan......

But then he reveals the name of a company which makes me a little suspect of those ties...

Counsyl.....a company to perform universal carrier screening.......interesting.....of 100 conditions!!!

What are they? From the site......

Counsyl has developed the Universal Carrier Screen: a simple, non-invasive, saliva-based test for more than 100 serious genetic diseases. The screen will soon be offered through our website and at some of the most prestigious medical centers in the country.

So I have to say.....can you imagine the issues with counseling 100 conditions? (more on this tomorrow)

And why does Pinker mention this? He understands carrier screening as he was screened for Ashkenazi Jewish Diseases which now approximately targets 16 diseases in some screens and 11 in others. But 100 diseases?????? The real question is now that we have PGD for alot of conditions.....what is the can of worms opened up.

As for me, I am a little suspect of the fact that he promotes this DTC carrier screening company in this article......It makes my promo meter go up. Now, listen, I understand that people promo things. But you should quantify it and let people know your association with it. In this article he neither says that he is or isn't affiliated with them.....I sure would like to know. He mentions 23andMe at least 4 times, yet Navigenics or DeCode are not mentioned at all....and what about DNADynasty? Hardly fair representation.....I wonder why?????

Even with this, he is certainly right about one thing

Assessing risks from genomic data is not like using a pregnancy-test kit with its bright blue line. It’s more like writing a term paper on a topic with a huge and chaotic research literature. You are whipsawed by contradictory studies with different sample sizes, ages, sexes, ethnicities, selection criteria and levels of statistical significance.

And then he says one thing that has me thinking.

The psychologists Lars Penke, Jaap Denissen and Geoffrey Miller argue that personality differences arise from this process of balancing selection. Selfish people prosper in a world of nice guys, until they become so common that they start to swindle one another, whereupon nice guys who cooperate get the upper hand, until there are enough of them for the swindlers to exploit, and so on. The same balancing act can favor rebels in a world of conformists and vice-versa, or doves in a world of hawks.

The Sherpa Says: This has me thinking whether the genomics world is full of nice guys.....or swindlers......I think it is full of the latter......Which means, it is now time for the nice guys to get together and win!

Friday, January 9, 2009

Attention Lab Directors!!! The FDA is coming!!!

I have been mentioning this several times to several VC firms and to several small companies. If your business plan or investment does not have a section devoted to getting FDA approval, you will soon see that business do 1 of 3 things.

1. Be sold to a commercial lab who can get FDA approval quicker

2. Become extinct

3. Struggle to create a plan to attain FDA approval and be 6 months to 1 year later to launch.

Why am I saying this today????

Did anyone look at the NY Times yesterday?

On Good Morning America Diane Sawyer said "I didn't know that the tests which my doctor ordered are not FDA approved"

Translation: A huge amount of public demand on an already strapped organization to regulate and assure the quality of laboratory testing, just as they do drugs and food.

This plays perfectly in President elect Obama's plan to create an interagency organization for regulating these and other IVDMIA tests.

Meanwhile, the F.D.A. is considering increasing its role in regulating diagnostic tests. Now, test kits sold to labs, hospitals and doctor’s offices must be approved by the agency. But tests developed and offered by a single laboratory, like the Quest vitamin D test, do not.

I am jumping on this as I read a report from one of our Yale laboratories which says


Well, that is going to change. And I predict it will happen very, very soon. Especially now that there is public awareness that people were getting false negative Vitamin D results because the FDA doesn't regulate home brews......

Imagine all the people who could have been taking supplements. Especially as more literature comes out about Vitamin D deficiency being linked to all sorts of diseases....Including heart disease...the biggest killer in the United States....Yikes.

The Sherpa Says: This is a good thing. I promise. Yes it may burden the FDA and HHS and CMS and all the little labs looking to jump into diagnostics, but in the end, it will start to restore the public's trust in healthcare....which is something we sorely need!

Personalized Medicine at Harvard? Dr. LeWine recommends skipping the DNA..

I was reading this interesting post from Dr. LeWine at Harvard

Howard LeWine, M.D., is a hospitalist at Brigham and Women's Hospital in Boston, where he practices and teaches Internal Medicine. He is the Chief Medical Editor of Internet Publishing at Harvard Health Publications.

He says "Personalized medicine" sounds great. It reminds me of how we embraced the term "holistic medicine" in the past. In fact, personalized medicine and holistic medicine both embrace similar ideals―they provide advice and care based on what is medically best for each person."

That's why I call it Patient Centered Genomic Healthcare, we aim for Personal, we should really strive for patient-centered.

"The goal of personalized medicine, on the other hand, is to offer the patient and his or her doctor the tools needed to accomplish the desired outcome with minimal side effects. This means medical care needs to consist of an approach that the person feels good about, is engaged in, and is likely to follow."

I agree and I think he is hitting a point here....

Genome Scans, Genetic Testing, Family History......these are all tools to be mastered and implemented on a routine basis.....

But he then gets to the real heart of the problem, how do you keep the information in the hands of the patient?

"Personalized medicine can best be accomplished with advances in technology, such as electronic medical records that are formatted to be easily transferred between doctors, hospitals, and other health care providers. Yet, physician adoption of even this most basic technology has been really slow. Small private practices often can’t afford to implement an entirely new system of record keeping, especially when the direct benefits to the practice are somewhat intangible."

An EMR can costs 20-100,000 USD for a provider to implement. Given current reimbursement, he is right. This is a cost most physicians can't afford. Just like taking time out of your schedule to take a detailed family history and give genetic counseling for 30 minutes to an hour. Insurance code for 30 minutes of counseling pays 30-60 USD. Is that really what it is worth?

If we can't get our priorities straight, pay helathcare professionals what they are worth and GIVE Electronic Medical records to ALL providers, we may very well fail at implementation of Patient Centered Genomic Healthcare on a national scale.

Sure we have these things at Helix Health of Connecticut, but I doubt they do in my hometown of Ulster Pennsylvania!

Even with these shortcomings, Doctor LeWine suggests you as a patient take charge.

"What you can do to get personalized medical treatment
Even with the limits that I describe, you and your doctor can very much personalize your medical care. Organizing your medical information is really the first step toward personalized medicine. An increasingly popular way to have your medical information in one place is to create a Personal Health Record. Google, Microsoft, and several insurance companies offer this service for free. This is your record and cannot be viewed by anyone without your consent. You decide who has access to your medical information."

I am not so sure about dumping data into Google or Microsoft. But you could buy your own PHR. Or you could use your insurers. I just am not keen on giving this data to a company who may not have your best interests in holding your data.

Dr. LeWine suggests options for that as well...

"Even if you stay low tech, you can help your doctor provide you with ways to help personalize your treatment:

  • Collect information at home that gives your doctor the most complete picture of your condition. For example, if you have new symptoms, keep a diary for a few days or weeks that indicates when the symptoms occur, how long they last, and anything you were doing before the symptoms started.

  • Ask your doctor what are the specific goals that he or she would ideally like you to achieve. For example, if you have high blood pressure and you monitor your blood pressure at home, what average blood pressure is optimal for you?

  • Ask your doctor for an action plan. For example, what blood pressure readings (high and low) should prompt a call to the doctor’s office?

  • Review your medications with your doctor at each visit, especially if you notice any side effects.

He Misses One Key Point. Take your Family's History. Keep it in a safe place and update it regularly

This is a spot on prescription for starting to begin to achieve patient centeredness, which is the first step in living a healthy life in the 21st Century.

The Sherpa Says: These steps are akin to doing an equipment check PRIOR to ascending the mountain! Don't forget your crampons!!!

Wednesday, January 7, 2009

Did you hear? Sanjay General!

Yes it is true. Pres-Elect. Obama has asked Dr Sanjay Gupta, Neurosurgeon to be Surgeon General.

Before joining CNN in 2001, Gupta was a neurosurgery fellow at the University of Tennessee's Semmes-Murphy Clinic and the University of Michigan Medical Center. Gupta has some experience in politics and policy. During the Clinton administration, he was a White House Fellow and special adviser to first lady Hillary Rodham Clinton.

So the questions. First, what does the Surgeon General do?

According to the Surgeon General's Site

The Surgeon General serves as America's chief health educator by providing Americans the best scientific information available on how to improve their health and reduce the risk of illness and injury. The acting Surgeon General is Rear Admiral Steven K. Galson, M.D., M.P.H.

I am pretty surprised that Sanjay was nominated. He is not exactly a public health guy. In fact, at the pace Obama was naming genetics people, I was half expecting Muin Khoury to be nominated. But, Sanjay is certainly an interesting pick. Now the question is, what will a Neurosurgeon tell the public about Genetics and Personalized Medicine.

My guess is not too much right now. I hope he will get up to speed on these subjects. Neurosurgeons are not exactly known for their prowess in pharmacology or even science.

A friend of mine and Neurosurgeon once joked "Do you know the difference between a Neurosurgeon and a Neurologist?"

"A Neurologist knows everything and does Nothing. The Neurosurgeon does Everything........"

He couldn't bring himself to finish the joke.....Figures.....egomaniacs........

Seriously, I want to know how this will affect the public perception of Personalized Medicine. In addition, some are already poking fun at his scientific knowledge. At the Chicago Tribune too. I have always thought of the Surgeon General as the end of a punchline, but they do have the potential to cause a stir.....

BTW, a google search for Gupta and personalized medicine reveals almost nothing showing he has reported on the topic.....He did report on Venter's Genome though, so that counts for something......well maybe not when he opens with "This man Knows his Destiny".....clearly not exactly the in depth knowledge I would want, especially when he says "He has all 3 heart attack genes". He's more like the GenomeHype WoMen from 2008......

That has me a little scared or skeptical. But one thing's for sure. He certainly is picking a lot of Clinton people.

The Sherpa Says: You gotta love it, even the Russian version of Newsweek says I am a fierce skeptic of 23andMe.....So, Do Svidanya for now....While you await the return, can you guess what the graph is???

Monday, January 5, 2009

Personalized Medicine? Not on ACPs radar screen at all!

I just received my Advance Program for the American College of Physicians(ACP) Meeting in Philadelphia this year. I am very excited about going to this one! This is billed as the annual "Scientific Meeting"

What is the ACP? With a tag phrase like "Doctors for Adults" I think it encompasses what they are well. This is the organization of Internists and Internal Medicine Subspecialists. In other words, most physicians who see only adults are members. Excluding the surgeons of course.

That is alot of physicians. They will all be camped out in Philadelphia during the week of April 21-25th. I see this meeting as a great way to get caught up on what is happening in the adult medicine world, to meet up with colleagues and to look toward the future of medicine. That future, at least in my mind involves personalized medicine or Patient-Centered Genomic Healthcare.

Well, this meeting has a pre-course and a set of scientific sessions. If you look closely at the brochure you can see that the meeting is jammed packed with information and events.....but unfortunately, you will see one huge thing missing..........

That's right, no where will you see the word genetics or personalized medicine......No Where.....

And that is a crying shame. Where the hell are these "Doctors for Adults" going to learn about the future of medicine. More importantly, why did the American College of Physicians fumble the ball by not including Personalized Medicine topics into the Scientific Sessions???

The blew it big time in my humble opinion.....Ok, I will try to give them some slack. They have alot of material to cover.....but if they think Teaching Power Point is more important than understanding how to interpret a genetic test they are freaking crazy!!!!!

Seriously, they have an entire set of sessions called "computers in practice"

They have five g-d Damn sessions a day on computer topics, when only 11-15% of practitioners have adopted EMRs why do we have 5 sessions a day of this and NOTHING about genetics or Personalized Medicine. What are the computer topics?

1. Microsoft PowerPoint for Beginners

2. PowerPoint 2003 for Advanced Users

3. Excel Spreadsheet for Beginners

4. Getting Started with PDAs

5. No- and Low-Cost Medical Web Sites
6. Useful Medical Applications Using Windows Mobile

I could go on, but I am just about ready to jump out a window!

Seriously, this may be what the doctors older than 50 want, but ALL, I repeat ALL doctors need an update on Genetics in Primary Care!

So I say to all physicians reading my site and to the leadership of the American College of Physicians

"With the push from HHS, FDA, CDC, NHGRI, and Barack Obama, How is the hell could you blow this one?"

This is a perfect example of why "Doctors for Adults" are slow to adopt genetics in their practices......Because the don't freakin' know it exists.....eve the leadership didn't acknowledge this.....

I guess that's why those "Doctors for Adults" have less than half that know BRCA1 or 2 can be passed through the father's side. But heck, at least they have a few sessions devoted to breast cancer......

No, I can hear the argument "It is integrated in the subspecialties" The answer there is "bullcrap" Where is the Family History for Beginners session? What about the Pharmacogenomics for Beginners? And the Interpreting a Genetic Test for Beginners session? It seems to me, those topic apply to everyone and should be covered as such.

The Sherpa Says: We need systemic change in the way we educate "Doctors for Adults" and we need an even bigger change in the Leadership. Especially if what they produced fails to introduce simple genetic concepts to their membership! ACP, you have failed.

Friday, January 2, 2009

It's coming!!!!! FDA considering changing the label on Plavix

Did you hear? The Food and Drug Administration is in discussions with BMS and Sanofi Aventis to change the label in Plavix.....But here's the rub...

What do they say? The studies definitely show patients are at risk. The question is how many???

With Plavix being the second most prescribed drug in the nation this has left cardiologists jaws agape!

"life just got very confused and much more complex" for cardiologists and patients, said James Calvin, director of cardiology at Rush University Medical Center in Chicago. He added, "We have to start to become very, very aware of how big an issue this is."

This from an article in CNN/Money today!

"Once you know the answer what do you do?" said Douglas Weaver, head of the department of cardiology at Henry Ford Hospital in Detroit and president of the American College of Cardiology. He said there aren't any alternatives to Plavix approved in the U.S. A potential alternative, ticlopidine, is rarely used because it has been associated with serious blood disorders.

Oh, Doctor Weaver, if you only would read the Sherpa, I recently gave you 4 options of things you could do......just because we don't have rock solid evidence behind it doesn't mean we can't do these things....and when the FDA label changes, you better get ready for the trial lawyers!!

"Clearly I think just the blind administration of these drugs is rapidly coming to an end," said Paul Gurbel of Baltimore's Sinai Hospital

That's music to my ears!!!!

To quote my very first post:


So I have no idea where to begin. Which is why I will just start with the Stats.......

We have a lot to cover and I look forward to sharing my solution to this huge problem. How in the world can we expect to implement Personalized Medicine in all its glory without having some Genome Savvy physicians? Oh....Those geneticists? Too bad almost 90 percent are pediatricians and have no clue what ischemic heart failure is. (Or Plavix)

The Sherpa Says: I see that lawsuit creeping closer and closer......We need some educators and damn fast! The durg-drug interaction with PPIs has been a possibilty for years, the gene-drug interaction what about the gene-drug-drug????