Sherpa's Plan: How you can join us!

I am happy to report that our Foundation website is now up. We are accepting members and plan to use this tool to hold the press accountable. Visit us at HelixGene. Why is this an integral part of the Sherpa Plan? Because physicians are too busy to get their genomic education from anywhere other than the TV or Newspapers or Newsweek.

Most physicians underestimate the utility of genomics. Most probably never learned about it in medical school. How can we deliver adequate education through mass media??? By vetting it and holding it to medical education standards. Sounds pretty harsh huh?

These times call for harsh measures. Plain and Simple.

From the Foundation's Site

HelixGene was scrambled over the weekend of September 19th 2008 as an emergency forum of genomic medical experts to address significant medical misinformation in the New York Times regarding the G2019S mutation of the LRRK2 gene.

HelixGene's still under construction, but the relevant information regarding this emergency has been published:

Genomic Press Release for G2019S => LRRK2 => Parkinson's Disease

A : Too : LRRK2
F : New York Times : Google Co-Founder Has Genetic Code Linked to Parkinson's

See

About HelixGene Foundation for more information

I hope this first issue spurs you to action. It certainly has done that with us!

Happy Holidays!

-Steve

Sherpa's Plan: Lack of Qualified Education Sources

I have received great response to our HelixGene Foundation. We are quickly building our community. It is so heartening to see everyone support this effort. It is frankly, breath taking!

Today I will be headed to a wonderful company. They are called Cine-Med. They are joining forces with the Sherpa to create Genomic CMEs. We have some great ones that are fast approaching launch.

My mentor told me that I am doing to much. But I have to tell you, I am not doing enough. I need your help. Help empower physicians to learn and practice Genomic Medicine!

Remember what I said about NCHPEG.....only 6 of 100 primary care physicians had ever heard of them. Instead they would rely on the Sunday NY Times. There has to be a better way! Either we launch a multi-million dollar awareness campaign for NCHPEG or we partner with someone who already has that recognition. I am working on that one too!

The Sherpa Says:
The NYT article on Sergey was the call to action! We need to act by uniting and guiding this field up the mountain!

Overselling Genomics, Sherpa Plan part 1

Yes finally, at last I am going to release my Sherpa Plan!

Thank you to all who have helped form this unique set of operating instructions to help rescue the promise of personalized medicine.

Now to Problem Number One....

Lack of Public and Physician Education by qualified sources.

How many people have heard of NCHPEG? I have, they are the National Coalition for Healthcare Professional Education in Genetics and they are a fantastic resource. But.

Well, my team took a poll (non-scientific) of 100 primary care physicians........how many do you think have heard of this organization............6 and they all had spoken with a geneticist in the last 2 months. In other surveys, physicians state that they rely on the same media that patients do to receive information about genetics. That's just not right!

Friends......we have a big problem when the people who are supposed to be implementing genetics get their information from an unreliable news media. Why are they unreliable? They like everyone else are expected to do more with less.....thus fact checking has become a thing of the past........

So therefore, if physicians are going to use the Sunday Times as their information, then we are going to fact check it ourselves......

Together with Drew Y, we are creating a community to fact check genetics reporting. It is called HelixGene Foundation......Thursday we will have sent an email to over 1000 genetics professionals inviting them to join our community.....

Attention Media and Public Relations! You are now forewarned.....We will keep grades on all of you and post them so that the public and physicians who are reading your articles are given the courtesy of Peer Review!

Want to join our community? You need to verify your PhD, MD, or CGC credentials and then we will sign you up.

The Sherpa Says: If we can control the accuracy of information, we will avoid overselling genomics. Why is this important? To prevent articles, like the one of Dr Khoury in the NEJM essentially bashing SNP scans. The problem? PMDs viewed that article as marginalizing the whole field of personalized medicine. Not just the SNP scan! Trust me Dr Khoury, we need more than a treadmill to carry out personalized medicine.

LRRK2, NYT, Trust and Sergey!

What I find interesting is how a SNP finding and a blogger can set the press a fire.....especially when the blogger is a junior member of the billionaire's club.


In this case I am speaking of course about Sergey Brin who recently published a blog post on his risk for Parkinson Disease. It helps understand why his wife launched 23andWe......

This research would have great potential if the Company 23andMe would obey the "rules and ethics" of common human research by allowing patients to remove their samples from 23andMe's database if tehy so chose.....and more importantly, consenting a patient when the sample (which 23andMe would now own) would be tested for other things...

23andMe's mission is to be the world's trusted source of personal genetic information

They have a long way to go........

That being said....I think we should talk about LRRK2 and what it means for Sergey and others who carry it. From Sergey

It is clear that I have a markedly higher chance of developing Parkinson's in my lifetime than the average person. In fact, it is somewhere between 20 percent to 80 percent, depending on the study and how you measure," Brin said.

That is 20 percent to 80 percent higher than the average risk......Not 80 percent likelihood to develop Parkinson Disease. That 80% risk is the case for BRCA carriers in breast cancer, but not this LRRK2! This was a statement on his post which some people may get confused by...so don't.

The New York Times reporter did

Mr. Brin, who made the announcement on a blog, says he does not have the disease and that the exact implications of the discovery are not clear. Studies show that his likelihood of contracting Parkinson’s disease in his lifetime may be 20 percent to 80 percent, Mr. Brin said.

Parkinson Disease affects approximately 1% of the population by age 65% and 4 to 5% by age 85 years. Therefore the lifetime risk is 2-5%. So a 1.2 to 2.1 Odds ratio would be 4% to 10% roughly. Not 80%!

There are several genes that have been linked to PD, including alpha synuclein, PARKN, PINK1, DJ1 which have all been linked to familial PD. LRRK2 is a realtive newcomer to the field with good publications starting in 2005. For reference the first BRCA publications were in 1994. It took us 10 years to really be able to fully understand and explain what the risks are. We still have problems with this though.

There are several misconceptions about BRCA as there are for LRRK2....worse yet, counseling for LRRK2 can be confusing. Which is why perhaps

Because there are only a small number of genes which are known to have a very substantial effect on health (e.g. 10 times the average risk)
I felt the possibility of discovering something very important to my health was just a hypothetical exercise. So, when my wife asked me to look up G2019S in my raw data (23andMe scientists had had the forethought to include it on their chip), I viewed it mostly as entertainment.....

LRRK2 is not one those genes that increases your risk by tenfold...

LRRK2 mutation accounts for 5 to 6% of familial PD and 1-2% of sporadic PD. Not exactly what I would call useful for a screening test. Mind you this is given for North Americans and Europeans.

These numbers however do change for a few ethnicities including North African Arabs, Ashkenzi Jews where it goes up to 29-37% of familial cases and 7-14% in sporadic....some studies say as high as 41% in sporadics, but the high sporadic data is not replicated.

What is familial PD? Well, at least one first degree relative must carry a diagnosis of PD.

I am not certain of Sergey's Ancestry.....perhaps he is African Arab or Ashkenazi Jewish? That might put his likelihood of having a mutation in LRRK2 higher.....

Interestingly in the largest study of Ashkenaim with PD to date the odds ratio to develop PD was 5.77 which is very high and fairly significant. Unfortunately, these data ONLY apply to Ashkenazi Jews from Israel as this was the population studied.

So don't go thinking it is that high for everyone. In this study, the Odds Ratio for developing PD in Ashkenazi patients with the LRRK2 G2019S mutation was 5.7 (CI 2.8 to 11.7). It is increases when you match age and sex to 8.6. Which has us thinking perhaps this is a sex effect? Not that sex, you perv!

What is the percent of unaffected carriers in the general population of Ashkenazi? 2.2%

That is a scary stat for my Jewish friends. That means this mutation is not nearly as common in the unaffected Ashkenazi Jewish population. This should be only interpreted for this Ethnicity! Not for Europeans or for Americans who do not have Ashkenazi ancestry!!

It was crazy that none of the other mutations in LRRK2 were detected in this Ashkenazi cohort. That certainly speaks for a founder effect!! Similar to the founder mutations in BRCA1/2

In dissecting out thet data a little more we see that the G2019S was found more commonly in Women and in Familial Cases for the Ashkenazi population.

So, I hope that helps. These data and perhaps the numbers Sergey quoted were likely those for Ashkenazi Jews. So if you are Tom Smith from Nebraska, chances are that the LRRK2 data you now could afford to get are not so dire. And even if you are Jewish, the penetrance of this mutation is 24 to 85%

Sergey's post was great and highlights a special issue. Ethnicity and its role in disease. We cannot apply one ethnic groups data to another. A study done on the Chinese does not apply to Northern Europeans. This is why SNP data can mislead and scare.

Here's the big question, when you found out you might get Parkinson Disease Sergey, were you alone? Would have liked to have someone there? Would you have liked to talk with a geneticist? Or was it like Joanna Mountain said to a friend of mine "Aww, Come on, this testing is just for fun"

The Sherpa Says:

At Helix Health of Connecticut, patients are seen that have family history of Parkinson Disease. I believe that all asymptomatic testing of this nature can be confusing and requires appropriately trained consultation....plain and simple. What if Sergey didn't have billions to through at this disease in hopes of a cure and to give him hope? He might be hopeless. In that case he might have even contemplated suicide......in the privacy of his own CPU......

ThinkGene Wars!!!!

Drew over at Think Gene (Which BTW is getting a heck of a lot of the media's attention. Including WSJ, NYT....etc) unleashes a heck of a post that I wanted to comment on.

Drew and I got into a heated internet conversation about The power of Google. This all started when I put up a video called Master Plan the Movie.....

Why did this get me going? Because, like Drew, I admired the guys at Google. As a startup guy, I admired their pluckiness and hard work. Thus I read their book "The Google Story" and then it hit me.....

From the book

We need to use the largest computers in the world," Venter said. "Larry and Sergey have been excited about our work and about giving us access to their computers and their algorithm guys and scientists to improve the process of analyzing data. It shows the broadness of their thinking. Genetic information is going to be the leading edge of information that is going to change the world. Working with Google, we are trying to generate a gene catalogue to characterize all the genes on the planet and understand their evolutionary development. Geneticists have wanted to do this for generations."

And then I stumbled on the Master Plan video.......Just month's later......I see the launch of 23andME.....of course. It makes a ton of sense. Acquisition of DNA under the guise of social networking....Brilliant!!!!!

But as I read their terms and agreement I began to become dismayed...

You see It turns out the DNA they take, becomes their property. Not yours. That was a big deal to me, why? Well, most laboratories allow you to take back your sample. In addition, if your sample is being used for "Human Research" It HAS TO BE UNDER THE OWNERSHIP OF THE PARTICIPANT! These are the rules set forward by the NIH and any Institutional Review Board.....Why is that important? You can read my post about it here.

Suffice to say, an research done on these 23andME samples would be viewed as unethical in the scientific community. That scares the dickens out of me. Because, there is no way 23andMe did not investigate whether they should use an IRB or go by accepted policies in performing Human Research.

But my guess was they said "How can we hold onto these samples for infinity? Soon the whole genome will come out, and we can run genomes on these samples. We will keep them interested by filling out questionnaires and social networking. But we won't follow ethical rules of research, because if they all pull out, then we lose the ability to do further testing on their samples"

Why did they think that? Because in 2004 when I thought about creating a 23andME, I thought about that. And these guys are at least as smart as I. If not as smart as Drew, who says

So what if Google is getting into health care? Give me one concrete fact why Google in health would make my life objectively worse. Show me evidence of this impending Google malice that threatens me personally.

I think I just did give you one piece of evidence Drew. Here's another....

Google is moving their data centers into the ocean. They are going to do this under the guise of being green. I gotta love Google. Everything has 2 effects and 2 meanings.......very occult.

Why???? They are filing patents for this neat tech......

The patent filing says the data centers would be located 3 to 7 miles offshore, which may signal that Google’s interest in undersea cables goes beyond connectivity between land-based data centers.

The offshore location also raises interesting questions about jurisdiction, and which laws would govern the handling of any consumer data managed from the floating data centers. U.S. territorial waters typically extend 12 nautical miles, but other nations’ claims range from 3 miles (Singapore) to 200 miles .

The offshore location also differentiates Google’s plans from those announced by IDS, which plans to build up to 50 data centers on de-commissioned cargo ships moored at piers in major cities.

Which is why Drew's comment really gets me scared.

From Drew-

I don’t see “we will share your information with banks” in Google Health’s user agreement, and why should I trust HIPAA and the US government more than Google? From what I read here, Google’s policy seems to be even more private than what’s required by HIPAA. My assumption is that Google decided that compliance with HIPAA would be expensive, unnecessarily pedantic, and an tool to be used against them by a potentially hostile regulatory establishment, so they gave the entire act a big “F-U” and wrote their own policy.

I think it is something quite different Drew. I think they are moving in a way that no government will ever be able to regulate them. Even worse.....who will then protect your data? Google? These moves are akin to Russia lining up troops on the Georgian Border or Iran Test Firing Missles that could reach Tel Aviv or Jerusalem. Not an act of war itself, but a trend towards something that should get our radars up.

I would like an explanation other than we are trying to be green, when they could be just as green 1 mile out from Sea and still in the Jurisdiction of the Good 'Ol US of A......

Drew then goes on to say

As for the futures of doctors, I have bad news, Steve. Health care is seen as much too expensive in the USA. Pretend we cut costs by 50% for the same standard of care. Where in that equation do doctors get paid twice as much to see half as many patients? WHO is going to pay doctors more? On average, for the foreseeable future, the median pay of doctors will only go down.

He goes onto say that Google and others will create algorithms to replace many of the common things we do in primary care.....which scares the hell outta me because this is pretty spot on.

I am very scared about this. What is the opposite of personalized medicine? Algorithmic medicine. We have been practicing algorithmic medicine since the inception of Evidence Based Medicine....It is not working so well. That's why we are pushing Personalized Genomic Medicine forward!

The only way to pay doctors more than the 30 cents they receive on the dollar reimbursed is to remove the bueracracy and healthcare managers that get paid millions more than the physician providing the care......but that is a debate for another day....

The Sherpa Says:

I hope my fear of Google/23andME avoiding regulations, shirking the responsibility to have an IRB (which Coriell does use BTW), and desire to sell your data to third parties, IS completely irrational. Because if it's not, using their services may ultimately mean paying a price that I am not willing to take.

Common Disease Common Variant Dead???

I don't think so.....If that is true, I know a few comapnies out West that could have a problem.....

Turns out the publicist for my friend's friend must have gotten him a sweet article in the New York Times.




It turns out David Goldstein has been a contrarian forever. It turns out he is getting ready to publish a wonderful book. From the article


"This idea, called the common disease/common variant hypothesis, drove major developments in biology over the last five years. Washington financed the HapMap, a catalog of common genetic variation in the human population. Companies like Affymetrix and Illumina developed powerful gene chips for scanning the human genome. Medical statisticians designed the genomewide association study, a robust methodology for discovering true disease genes and sidestepping the many false positives that have plagued the field."





Well, David argues.....this idea is dead.....


“There is absolutely no question,” he said, “that for the whole hope of personalized medicine, the news has been just about as bleak as it could be.”





Wha????? David....is the common disease common variant theory equal to personalized medicine????

I would say no. What about Pharmacogenomics? I mean, come on...that's what you are studying. What about family history ascertainment? That's what you are publishing. Obviously in your mind, Personalized Medicine is not dead.

But the Common Disease Common Variant issue that is a much more interesting question.


Let's just say it is dead....as my Chairman Rick Lifton might also be in agreement with.........What happens? SNP scan testing companies go away.......Affy, Illumina, etc see a drastic cut in their machine usage and purchases (Yikes) and all the hard work we put in for the HapMap gets thrown away.....




No one is going to let that happen. So let's just say it is not dead but on the Injured reserve. If that is the case how do we rehab it.....I have some ideas





1. We need to have better methods of phenotyping and analysis. Common disease is rarely the same in everyone and is likely to have multiple etiologies


2. We need to remember that rare variants interact with common variants and look at this from a systems basis.......I.E. "Both kinds of music Country AND Western" Studies need to be designed this way


3. Lastly, we need to look at the environmental interaction with these common variants. Diet logs, career information, exposures, etc...need to be incorporated into these studies.....


Iff, we do these things and still come up with nothing, then and only then will Common Variant Hypothesis be dead!!! But with the types of ideas on the other side I don't think they get that...From Dr. Goldstein,


Just as selection turns out to have pruned away most disease-causing variants, it has also maximized human cognitive capacities because these are so critical to survival. “My best guess is that human intelligence was always a helpful thing in most places and times and we have all been under strong selection to be as bright as we can be,” he said.



This is more than just a guess, however. As part of a project on schizophrenia, Dr. Goldstein has done a genomewide association study on 2,000 volunteers of all races who were put through cognitive tests. “We have looked at the effect of common variation on cognition, and there is nothing,” Dr. Goldstein said, meaning that he can find no common genetic variants that affect intelligence. His view is that intelligence was developed early in human evolutionary history and was then standardized.





Seriously? Do you really think Hawkins type of intelligence was the same as Picasso's? What about Mozart's? Einstein's.....The statement that intelligence is standardized is crazy....There is no way a bunch of man made cognitive tests can fully stratify the phenotypes of intelligence......It sounds impressive to the lay reader. But to me....it reeks......








The Sherpa Says: While Dr Goldstein is a smart and learned individual, he will not kill of the Common Variant Hypothesis.

Democratization? Or Capitalization? Take yer pick

An old post.......interesting that I seemed to be right on track....In reading through my RSS feeder over a year ago now I stumbled across an interesting video at Testing Hiatus. It comes from the website Master Plan the Movie. This is especially timely given the new shiny 399 USD SNP scan.....which BTW is still more expensive than Coriell's Free Scan!

Before you watch this YouTube video I first would like you to take a gander at an excerpt from "The Google Story"


Sergey Brin and Larry Page have ambitious long-term plans for Google's expansion into the fields of biology and genetics through the fusion of science, medicine, and technology. . . .One of the most exciting Google projects involves biological and genetic research that could foster important medical and scientific breakthroughs. Through this effort, Google may help accelerate the era of personalized medicine, in which understanding an individual's precise genetic makeup can contribute to the ability of physicians and counselors to tailor health care treatment, rather than dispensing medications or recommending treatments based on statistics or averages.


"We need to use the largest computers in the world," Venter said. "Larry and Sergey have been excited about our work and about giving us access to their computers and their algorithm guys and scientists to improve the process of analyzing data. It shows the broadness of their thinking. Genetic information is going to be the leading edge of information that is going to change the world. Working with Google, we are trying to generate a gene catalogue to characterize all the genes on the planet and understand their evolutionary development. Geneticists have wanted to do this for generations."

Over time, Venter said, Google will build up a genetic database, analyze it, and find meaningful correlations for individuals and populations. . . . Google's data-mining techniques appear well-suited to the formidable challenges posed by analyzing the genetic sequence.It has begun work on this project, but has not been required to disclose any information about it publicly since the work has no impact on its current revenue and profits."

People will be able to log on to a Google site using search capacities and have the ability to understand things about themselves as they change in real time," Venter said. "What does it mean to have this variation in genes? What else is known?

And instead of having a few elitist scientists doing this and dictating to the world what it means, with Google it would be creating several million scientists."Google has empowered individuals to do searches and get information and have things in seconds at their fingertips," he went on.

"Where is that more important than understanding our own biology and its connection to disease and behavior? With Google, you will be able to get an understanding of your own genes. Google has the capacity to do all of this, and it is one of the discussions I have had with Larry and Sergey."


Ok, So now you can watch the movie at Testing Hiatus Let me know what you think. Does Don't be Evil mean Be Good? Or Does it mean something else?

The Sherpa Says: 23andME has been in the works long before it hit the radar. See Russ Altman earn his advisorship to 23 and Me here. Lastly, there will be only one purchaser of 23andMe's data.....Google....end of story.

Spit Party for those who want to break their own code and The Law

The New York Times article was lovely.....
So was the New York State Department of Health....

the State Department of Health sent letters informing the companies that it is illegal to offer medical tests in New York without proper licensing. Claudia Hutton, a spokeswoman for the Health Department, said that 23andMe also received such a letter, along with three dozen other DNA-testing companies.


A spokeswoman for 23andMe, Rachel Cohen, said the matter was being negotiated with the state. “We are still talking to them and hammering out the best method to do it to take into account their interest in regulating the industry,” Ms. Cohen said.

Ms. Hutton said that if 23andMe has continued offering tests since receiving their warning letter in December, the company could be fined $2,000 for each test done on a New York resident. There was no sign of a Department of Health inspector at the party.

My father always said......if you have nothing nice to say.......well. I never really listened that closely to my father's advice....

The Sherpa Says:
Anne, you looked beautiful......

Why Gene Patents Suck.

So I was on the phone with my good friend Deb Heine. She told me that a great tragedy is occurring.....What is that? Well while everyone was out playing patty cake and hyping 23andMe's democratization of SNP scans, Athena was doing something more dastardly.....Who is Athena? In the late Classical Greek myths, Athena is most commonly described as the daughter of Zeus, born from his head after he swallowed her pregnant mother.

Which I find terribly ironic. Because what Athena is doing is hurting pregnant women everywhere.....

You see, Athena in this case is Athena Diagnostics...

You may be asking who in the heck is Deb Heine? Well she is the founder of the Claire Altman Heine Foundation. Her daughter Claire was born with a horrible disease called Spinal Muscular Atrophy. What's crazy is that the carrier rate of this genetic condition is similar to Cystic Fibrosis. You may be asking yourself...."Doesn't every pregnant woman get offered carrier testing for CF?" The answer is yes.....even women who are not of northern European ancestry have been offered CF screening. Why? CF happens in other populations to, just not as frequently.....

Well, in the case of Spinal Muscular Atrophy(SMA), it IS a pan-ethnic disease! Not just for white people. It is a rate of 1:40 people. That's pretty high...

So what is the big deal? Well, in October the American College of Medical Genetics will be making it policy that every pregnant women be offered carrier screening for SMA.

Whoa! How many women is that in the US? 4,315,000 births in 2007 according to the CDC....that potentially means 4 million plus laboratory tests for SMA....which works in the case of Cystic Fibrosis where there are 65 laboratories that do those 4 million samples each year.......

Flash back to Athena, the goddess of war and also the Greek goddess of wisdom, war, the arts, industry, justice and skill. And it's laboratory counterpart who is none of these....

You see, Athena has the patents for SMA testing....and it is now shutting down laboratories all over the country doing this testing. Leaving only 1 laboratory to handle those 4 million samples.....That lab? Genzyme!

This is why patents suck......no matter how good Genzyme is...and trust me they are very god at this biz.........There will be a bottleneck, delays and there will be price gouging, that will costs insurers millions of dollars.

So while 23andMe was hailing the democratization of a minimally clinically useful test, Athena was "Dictatorizing" carrier screening and a much more clinically useful test.

The Sherpa Says: This is the problem with healthcare, all the buzz is on a company backed by google rather than on where the real story is. Why hasn't genetics gotten the time it deserves? It's time has come. I just wish the press would pick up on this too. Stop the gene patents, save healthcare....it is just that simple....patent processes if you want...but make it illegal to patent genes. If we fail on this aspect, we will fail the future of our citizenry.

A lot to chew and then spit!

As my friends and I work furiously to get the Sherpa's Plan to public(BTW it will be released in parts, and no I didn't spend a T.Boone Pickens like 1.2 billion dollars on it.) , some things have happened in the blogosphere.

Let's recap.

Last month I receive an emailer about price point from Navigenics. My friends who took the test did too.

This had me wondering......what is the market for a test? I delved back into my business plan from 2005. You know...the one where I actually created 23andMe but called it helixhealthofconnecticutcare. I looked at the stats on who would pay what for a test and it hit me.......they're gonna drop their price and service. And switch to a full subscription model. BTW, in my old model the feds don't get us, but the customers do b/c they aren't trusting what we are doing with their samples, b/c we aren't a not for profit company......Instead we are profiting off their DNA......Hey that gives me a great idea.....Why not send 23andME public, giving one share of stock to each participant???? Don't say I didn't give you a brilliant idea Linda.....BTW, these would be common stock....Oh well, no phone call from 23andMe......

But then, I received an invite from a business consulting firm I work with to participate in a survey.....Guess what? This was the physician version of the same marketing questionnaire. Interesting. I am now thinking....man if Navigenics would only give me a call we could chat about something very useful......but.......no phone call :(

By that time. Drew Y at Think Gene had just visited Coriell and posted about the Death of DTC genomics...... This got him blasted almost as bad as the Sherpa did.....but believe it or not, upon talking to Drew, he also received a ton of tremendous support.

Then suddenly, well maybe not....I had heard about this from a little birdy on the other coast, 23andMe Democratizes (code word for attempts to do what Coriell is doing only for 399 instead of FREE) their service. Well, not exactly what Coriell is doing. Coriell is focusing on Medical Traits and has launched an Informed Cohort Oversight Board. A concept developed by the good boys in Boston.....Which I am proud to sit on......So what does the blogosphere do? What it always does....fight...."This is Great!" "No this is Bad!" "No this is illegal" That's why I love our little DNANetwork!!!! So Drew again posts on this and gets some heat, but also gets some good press...

Even from a reporter who wouldn't give him the time to chat a few years ago.....But now agrees with Drew.....sort of.....

With all of this rigamaroll even the Kaiser Team chimed in

23andMe co-founder Anne Wojcicki said, "We're really focusing on the democratization of genetic information" (Tansey, San Francisco Chronicle, 9/9). The firm hopes the price cut will provide an influx of genetic information and "hasten the day when a full genetic screening becomes routine medical practice," the AP/Denver Post reports. Wojcicki said, "The mission of the company has always been to enable anyone to be able to get access to their genetic information. We really believe strongly that at some point everyone who's born will get genotyped," adding, "You'll have your information and you'll use that to help guide some of your health care decisions." Linda Avey, the company's other co-founder, said, "It's just a data problem. We don't have enough" (Wohlsen, AP/Denver Post, 9/8). Avey said if the price "was what was really holding [consumers] back, this will be a better price for them to get involved" (Pollack, New York Times, 9/9).

Blaine jumps aboard and writes "But genetic genealogists (and undoubtedly many others) DO chose their testing provider based on the results they receive." and that's why 23andMe will succeed.... But you know you have won when the CW or WB or whatever they are calling themselve covers you. But then Drew insults me "If you paid $1000 for 23andMe.v1, and you are pissed, and you demand a refund —you are a fool." and goes on to champion Coriell

So what's my take.....this is all a distraction. We need to focus on what is real and what is missing.

That's why I will launch the Sherpa's Plan in 1.2 weeks. I am so frustrated that this is what it has come down to.......The healthcare system is found lacking and all we have to offer it is 399 SNP scans??? My god. That's not gonna hasten anything....all it does is turn physicians into skeptics....

The Sherpa Says: There is something better up this mountain. Just because you ascended your first 1000 doesn't mean you are at the top....more likely, you are still closer to the bottom....Remember Manhattan was bought for bobbles.....I am sure the Manhattan, Minqua, Savanos and Wappanoos are pissed about that trade too.........

Where's my 600 dollar refund?

In a not so surprising move the NY Times reports that 23 and Me will be lowering their prices from 999 USD to a whopping 399 USD. That is no joke. There are some market reports out there that push the testing button and ask patients at what price they would likely pay for a genetic test out of pocket and guess what.......375 is the magic number. This was data researched by Cogent back in 2005. The real issue is does the public view this as one test or multiple.

I think we know the answer......a genetic test is.......A genetic test. Regardless of whether it is based on SNP data or not. The public views a sample as a sample for ONE genetic test, not 20. And they aren't likely to pay the 20 price for just one. More importantly, this spells doom for multipex tests that are expecting huge payout for multiple tests out of pocket to diagnose conditions.....unless of course the USPTO allows a patent on the multiplex test.

So why am I not surprised? The scuttlebutt about these DTC testing companies is that they are bleeding cash like they were cut in the carotids.....Why? They have no services to fall back on. So while they are reliant on a test to make their money.......Services like Helix Health of Connecticut just keep swimming. I am sure glad we didn't have to pay that bar tab.......

So what does this mean? Several things.

1.) We are likely to see a spike in the usage of the test....remember 375 is the hot button. I am sure Google will be happy with that spike.

2.) We will have more patients in need of a physician to help them work through these results

3.) Unless they can sell a million tests quickly....The other DTC companies may follow suit soon enough.......

The Sherpa Says: DTC testing isn't the problem.....the market is........See Burrill and Company for further clarification of that. T-minus 1.5 weeks for the first of The Sherpa Plan......

Personalized Medicine Since 1986!

First I would like to apologize for the lack of postings on interesting topics lately. I am glad that others have picked up my slack. Notably Hsien and Bertalan's interesting posts this week. Or for an in depth post on the politics of health care and the reform movement check out VentureBeat
What I want to pay attention to today is the question I inevitably get asked when I speak to other physicians. "Is what you say feasible in a 7 minute consult world?" The answer is inevitably NO. I do not feel in my heart of hearts that we will ever be able to practice personalized medicine in a 7 minute consult world.

What's needed is a Revolution. We need a place where the patient has access to their records and their physicians 24/7. We need a place where the patient is given the skills to understand and manage their disease. My friend's 12 year old son can quite effectively manage his diabetes, how come a 45 year old venture capitalist cannot? Support is the key and learning is the motion required to open the lock. How do we make these things easier? How can we get doctors to teach their patients? What ever happened to true continuity of care? These are big questions that need answers. I don't have them all. But I am working with some great people who will find those answers.....

So the next question is "How can we have the knowledge to practice these things?" I often tell physicians to go back to college or read a book on genetics. If you don't have the time to do that, then you will fail your patients. This often meets an uproar of disbelief......I am pretty good at pissing people off. Just ask Lisa Lee at DNADirect ;)

In all honesty, we need some clinics who offer personalized medicine consultations. These specialists need to guide care in collaboration with PMDs. I am proving this model in NYC! Give us a call and we can arrange to start the relationship.

But there has been someone doing this since 1986!!!! Wha??? The HGP was only 3 years in and they were providing these services. Yes that is correct. Greats such as David Rimoin and Maren Scheuner helped form and develop this practice. It goes by the "trademarked" name GenRISK Adult Genetics Program. It has been in practice since 1986 offering several tests that you can see on their site. I have been critical of predisposition tests unless clinically indicated. This is an example of how a personalized medicine practice can be run.

The Sherpa Says: Genomic and Personalized Medicine need to be given in a continuity of care. Family history changes, medical history changes. A one time consultation cannot deliver that kind of service. Oh and what about pharmacogenomics?

Stand Up To Cancer!

Let's Join together and beat cancer down! As I posted earlier about Christina Applegate and now about Mia Perovetz. Cancer can destroy families. Why not stand up to it. That's what celebrities are doing tonight. My friend Walter recently posted on this.....you can see it Here!

We have to beat cancer! Tune in tonight September 5th, at 8:00 pm EST and PST, ABC, CBS and NBC will donate one hour of simultaneous commercial-free prime time for a national fundraising event. Tune in donate and let's stop cancer in its tracks!

The Gene Sherpa Path and T. Boone

Whether you agree with the plan or not this is an impressive argument made by T.Boone Pickens

http://www.pickensplan.com/. It's also a very impressive community he's building...

When you think about it the personalized medicine industry has some of the same challenges and some distinct differences...

Problem #1: US Healthcare costs (source: National Coalition on Healthcare)

In 2007, health care spending in the United States reached $2.3 trillion, and was projected to reach $3 trillion in 2011.1 Health care spending is projected to reach $4.2 trillion by 2016.1
Health care spending is 4.3 times the amount spent on national defense.

In 2005, the United States spent 16 percent of its gross domestic product (GDP) on health care. It is projected that the percentage will reach 20 percent by 2016.

Although nearly 47 million Americans are uninsured, the United States spends more on health care than other industrialized nations, and those countries provide health insurance to all their citizens.

Health care spending accounted for 10.9 percent of the GDP in Switzerland, 10.7 percent in Germany, 9.7 percent in Canada and 9.5 percent in France, according to the Organization for Economic Cooperation and Development.

Problem #2: Higher and higher bar set for FDA approval of new therapeutics in the same therapeutic class to treat the same disease with a "one size fits all" small pharmaceutical development strategy. Pharma has to spend more and more to face higher and higher hurdles to approval and their looking under every rock, inventing and naming new conditions and diseases and their pipelines are drying up. Trial and error medicine is dead.

Problem #3: As new companies address pharma's problems (Myriad, Genzyme, Vanda, Clinical Data, Algynomics, perlegen, genomic health, etc) by developing companion diagnostic tests to target therapy to individual patients ("likely responders") there are too few doctors (<500)>300M people.

Problem #4: Education. The lay-physician or GP has no formal training in genetics and has not likely seen genetic consults to discuss genetic testing. the physician has 7 mins to explain very complex subject matter with the patient putting undo pressure on the currently stressed system.

Problem #5: Distribution of tests. There are currently hundreds of small companies developing sophisticated molecular diagnostics which would adequately segment the "trial and error" population into a targeted and appropriate population for a specific therapeutic. But they do not have a central distribution channel for their personalized medicine tests.

My friends and I have a plan.....in two weeks we will begin to share it.....and we can all climb the mountain together.

HT: Matt Tindall