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???

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.

New England Journal, Prostate Cancer and Babel

Remember when I said that all of these association studies had weak Odds Ratios? I also said in the Sherpa's golden rules of genome wide association study that any OR less than 2 is probably not better than a family history. Here we have a study in the NEJM listing a powerful combination of SNP data AND Family History. This was e-published back in January, but I draw your attention to it again as it deserves notice.

In a significant meta analysis it is shown that the OR if you have a first degree relative with prostate cancer is 2.5 I hope Genome-Boy and his trusty side kick Prosty are reading!

Well, this study and its shortcomings...There are some. This study Blows mere family history out of the water. This study, dubbed CAPS, evaluated Prostate Cancer in Sweden.

The analysis of SNPs revealed 5 SNPs which had significant risk implicated...Here's the kicker, if a person has 4 SNPs and Family History, then your Odds Ratio for Having Prostate Cancer is.....get this 9.46 compared to the men who had none of these factors.

Take That PSA and Digital Rectal Exam!

Now where does this study have shortcomings?

1. It is retrospective and this is subject to bias, therefore needing prospective analysis before we will use it.

2. This population is a relatively homogeneous population that breeds nationally

3. Only one of the SNPs has an identifiable gene. Without a gene, we can only guess what role the SNP may play let alone devise a medication or treatment to offset these effects

The Sherpa Says:
This is what I am talking about! When replicated prospectively...and this will be, this will be a powerful tool to use for risk stratification. To my journalistic friends, please don't report the Odds Ratio as if it were a relative risk! To my prostate prone friends....cheer up. Prostate Cancer is rarely a killer.

Be Ready Ad and Pat Sajak

That's right I saw the Be Ready Ad in between Vanna and Pat. The Sherpa is a "Wheel Watcher" I am always amazed with people. My mother-in-law was sitting with me and she said "Should I get this test?" I said "Wha???" She said, "Will it let me skip mammograms?" I honestly was blown away by this. Especially because she is a nurse. If you are a nurse, you should be health literate.

Unfortunately, she is not genetics literate. I then went to give her my counseling shtick and tell her that no one in her family has breast/ovarian cancer. "So why does that lower my risk?" she asked? This is why Ellen Matloff has her website. I am certain that this testing has identified many people not normally thought to be at risk because of limited family structure i.e. all men relatives (But they still could have prostate, pancreatic, or even breast cancer)

The real question is, what will happen when 23andMe advertise? What about Psynomics?
I am preparing a talk for the Fairfield County Medical Association. What is it about? Well, I would love to have talked about the benefits of genomics. But the pressing topic for community physicians is "Personal Genomics and Liability for the Community Physician"

I had a physician come to the office the other day, she had heard me speak at her hospital's medical staff meeting. She said "The other day when you and your counselor spoke to us, I have to admit, I had no clue what the hell you were talking about" "But now I think I know what you were warning us about." She then handed me a 40 page set of a patient's testing done at Canyon Ranch.

The genetic testing done included such hot buttons as CYP 450 testing billed as "Detoxification Panel" and the loaded APOE testing. It began to finally sink in. These physicians have no clue what is coming. I could spend my days running from hospital to hospital preaching like Cassandra or I could create something just for them.

Anyone interested in helping please send me an email.

I said....."Well, there is certainly alot here." Has anyone seen this Canyon Ranch panel? The interpretation was done by a very nice physician. Clearly not a geneticist, nor an internist. But he told this 30 year old female patient that she needed a Coronary CT Angiogram. This in my humble internal medicine opinion is a little bit of overkill. Despite this testing, no where on the report was a significant family history. Her family history? According to this PMD...it includes longevity. Both parents into the late 90s. My professional opinion, barring trauma or accident, she'll live long enough to pay for all sorts of bogus screening tests.

When looking for this testing on Google, I only found 3 links! Turns out it is Great Smokies/Genovations behind the testing. Canyon Ranch has these pages hidden on their site. I hate to tell everyone, no matter how many poor studies you put behind a test, you still have poor studies and a poor test. It hesitate to point out that not only is Canyon Ranch involved in this testing.....so are some casinos.

Back to my point....Which is....Physicians will only wake up when a patient walks in their door and puts them at liability/malpractice risk. This is especially troublesome when I am trying to point out how they are actually LESS at risk when they appropriately refer to genetics/genomics services and not to Casinos.

The Sherpa Says: Getting these resort testing panels is a lot like playing craps. Put your money on the pass line and roll the dice. You may get something worthwhile, you are more likely NOT to. That's why the house always wins! These tests only stand to confuse and lead you off the trail of truly personalized medicine.

Don't Be Evil? Devil to Ben.......

An old post.......interesting that I seemed to be right on track....

In reading through my RSS feeder I stumbled across an interesting video at Testing Hiatus. It comes from the website Master Plan the Movie. 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.

The Gene Genie Gone Awry?

In an article entitled "Letting the Genome out of the Bottle — Will We Get Our Wish?" in the New England Journal of Medicine, I am left questioning if Drs Khoury and Drazen read the Sherpa. Well, I read Hsien's blog, so why can't they read mine?

These are several themes that I have been raising about Genome Scans and have even spoken with several news reporters and journalists about.

From the Article:

It may happen soon. A patient, perhaps one you have known for years, who is overweight and does not exercise regularly, shows up in your office with an analysis of his whole genome at multiple single-nucleotide polymorphisms (SNPs). His children, who were concerned about his health, spent $1,000 to give him the analysis as a holiday gift. The test report states that his genomic profile is consistent with an increased risk of both heart disease and diabetes, and because the company that performed the analysis stated that the test was "not a clinical service to be used as the basis for making medical decisions," he is in the office for some "medical direction." What should you do?

My first answer is to call Helix Health of Connecticut or your friendly neighborhood geneticist. My second answer is what will most physicians say? My guess is, "This is just a fad. This information is useless" They may be correct and they may not be. But until this data is reviewed by someone who is in the loop about genomic discovery, I am not so sure they can say for certain.

The next part of the article really had me thinking that they have read several of my posts.

It is likely that sample-handling errors are a greater threat to the validity of results than are genotypic misclassification errors. Yet even very small error rates per SNP, magnified across the genome, can result in hundreds of misclassified variants for any individual patient. Without transparent quality-control monitoring and proficiency testing, the real-world performance of these platforms is uncertain.

This is a significant issue. In a Journal of the American Medical Association in 2006 a group mathematically estimated that there would be a significantly high rate of false positives.

This is the problem I see with whole genome analysis for medicine. Just because we can do it, doesn't make it medicine.

But more important than any of this is the educational shortcoming that most physicians have with this data. As indicated by the authors.

For the patient who appears with a genome map and printouts of risk estimates in hand, a general statement about the poor sensitivity and positive predictive value of such results is appropriate, but a detailed consumer report may be beyond most physicians' skill sets.

The Sherpa Says:

This is why I started the Sherpa. We must stay on the Path To Personalized Medicine. Right now, Genome scans are a dangerous shortcut. Steer Clear.

To My Colleagues: If you have one of these scans from a patient, please give us a call

To My Early Adopters: Genome scans cannot be used for medicine yet, but they can be useful for other things...

To My Detractors: I am sorry if you are upset, but I will only speak my opinion.

Wall Street Journal Agrees....We Need More Sherpas

In the WSJ today and also on GTO it seems we have a common theme. Something perhaps that I have been saying all along. It is nice to see Gautam agree with me....

From the Article:

Ever since the human genome was deciphered seven years ago, companies have been rushing to sell genetic tests directly to consumers. But buyers, beware: Many of the claims that accompany these tests are not fully supported by science.

Read my post about it

deCODE genetics' test for a gene variant linked to Type 2 diabetes: Some research says the predictive value is weak....

"The predictive value of the genetic test is pretty poor," says David Melzer, a professor of epidemiology at the University of Exeter, England. Last year, Prof. Melzer and colleagues published a study based on data collected from more than 900 elderly people in villages near Florence, Italy. They found that 80% of the people who tested positive for TCF7L2 didn't get Type 2 diabetes in old age. And nearly 40% of the people who had diabetes didn't carry the gene variant at all.

This One Too...

"The significance of the risks uncovered by these tests is very, very small," says Stuart Hogarth, a fellow at the Institute for Science and Society at the University of Nottingham, England, who has studied the genetic-testing industry. "Commercialization of genetics tests at this stage is premature."

Oh I think I said this too.....Twice

Let's chalk this all up to media hype...Or the lack of appropriate medical knowledge to combat the hype

"The Sherpa speaks the language of the trail, he/she knows short cuts and dangerous paths to avoid."

I hope I have served my readers well.......I know my Helix Health of Connecticut has.

-Steve

Updates from the Burrill Conference

Lo and Behold, the Sherpa goes looking for some updates, Epidemix and Wired deliver. My favorite line from Wired is

"Early medical testing and treatment could save patients and healthcare providers a ton of money, but nobody wants to pay for unproven and often expensive new lab work. FDA approval is not required for laboratory tests, but it is an indicator that products are actually beneficial to doctors and patients."

The best lines from Epidemix are

We’ll see about that - but there were three telling stats that came up during the day. Together, they make quite the case for personalized medicine.

1) Half of all prescriptions don’t work for the patients. Most drugs have an efficacy between 20 and 80 percent, averaging around 50 percent. Meaning that they only have their intended effect half the time. That might be awesome in baseball, but it’s hardly reassuring in medicine.

2) Chemotherapy is effective - defined as remission - in just 5 to 10 percent of breast and colon cancer cases. This is likewise startling (the stat comes from Randall Scott of Genomic Health). And factor in the fact that chemo costs about $30,000 per patient per year, and there’s a massively inefficient treatment module out there.

3) Six weeks - that’s how long it takes, give or take, for a physician to determine whether a given antidepressant is working for a patient. And given that only half of drugs work, that’s a rather long time for a patient to go effectively without a treatment for their depression or mental illness. (This from Wolfgang Sadee, chair of the pharmacology department at Ohio State).

But what is most exciting about the conference is the attention that was purported to be spent on predicition, prevention and personalization. This is what the essence of personalized medicine is.

Personalization includes face to face care and the ability to ask questions. Not questionnaires that give you incorrect guidance. No amount of computer work can give you the face to face communication. Here is an example of preposterous questionnaire results.

If I was a 40 year old woman with no first generation history of breast cancer, but had a more distant relative with breast cancer after 50, HH's position and that of the literature is that you probably shouldn't have BRCA testing as the likelihood is very low.You may ask why and spend time with us going over why we think so. But in a questionnaire the answers are often yes or no. Much like the one I just filled out. Don't believe me? Try it yourself

Direct sequencing is probably not the best "test" to detect and prevent breast cancer, a mammo is. And it certainly is tricky how this info comes up first, rather than the next screen where it says this test may not be appropriate for you. A questionnaire is only as good as the answers they provide....

The Sherpa Says: In the scramble to make money off of genetics the consumer should make sure they get what they pay for. If the cost is cheap, it probably means the same for the service....... I hope the public can understand that. Thanks to Wired and Epidemix for the great posts. I look forward to hearing the rest of the conference tid bits! Oh, and shame on those little questionnaire writers.....Did you really think someone with genetics training wouldn't pick up on that?

I never realized

How a little blogpost can get investors excited. Since the Scienceroll and Now GTO posting I have been fielding a significant amount of calls regarding potential partners in Helix Health of Connecticut.

I have to admit, I am honored. But I also have to admit, I am surprised that these highly intelligent people never thought to call me before. I even do some consulting work for these groups, yet none asked about Helix Health of Connecticut.

Well, enough about me. What about personalized medicine? In case you missed it, Sequenom has been pushing the envelope lately. This new technology discussed here may remove the need for amnios....forever!

What is going on in November? Starting today, Burrill and Company has been discussing Personalized Medicine. I would love to hear from anyone who went to this conference! I am really sad that I missed this. I was planning on attending, but family came first :)

Harvard Partners Centers for Genetics and Genomics is hosting yet another conference "A Call to Action" is going to be held on November 29th. Lawrence Lesko, Mike Leavitt and Ralph Snyderman will be speaking. These are three speakers who have heard and loved. If you haven't this conference is a must!

This article from the Minnesota Star Tribune raises some questions and reminds us that not all support personalized medicine. We do have detractors. This is why we must not become a mutual admiration society. There is much work to be done to convince the public AND the health care field!

The Sherpa Says: Perceived competition is misperception. I think Berci has already pointed this out. We need to form partnerships to pilot this ship!

Scienceroll reviews Personalized Medicine Companies

Today, Bertalan Mesko at Scienceroll has reviewed three companies. Navigenics, 23 and Me, and Helix Health of Connecticut of CT. For full disclosure, I am not only the owner of Helix Health of Connecticut, I am also a patient. My family has a significant genetic background for disease. Because of this, I was motivated to change the paradigm of current medical/genetics practice.

Berci does a nice job of describing the companies and what he estimates their best attributes.

"If we could merge the real advantages of these companies:

• the fantastic team of Navigenics and their unique business model;
  


• the financial background of 23andMe; the focus on genealogy information and social networking;


• the personal aspect of Helix Health of Connecticut and their potential to serve and help physicians as well,

…then it would be the perfect service. But it’s impossible to compare them properly as they are all unique in their own way and will probably find their base of customers."

I have to say that I am in agreement with Berci, I wouldn't mind working with Navigenics or 23 and Me to help shape this field known as personalized medicine. I have had experience with the multiple legal issues involved in providing telemedicine and other scalable services this way. But I must re-emphasize that nothing gets truly communicated unless the patient has the ability to ask questions, over and over again. Can someone who has never been trained in medicine answer medical questions? Yes. Will they be protected from litigation? No. Will they provide insightful answers....I leave that answer up to you.

I don't believe it is a smart idea to cut out the health care provider from this equation. Full Disclosure (I am a health care provider). But that's not why. I have seen it done the other way. I have seen patients who have had DTC testing. They have received services from certain unnamed companies and couldn't understand what was going on. Even worse the needed some re-assurance but the phone counselor obviously couldn't see the patients face. So all in all they came to me for personalization. The true key to personalized medicine.

The Sherpa Says: Stay Tuned to Scienceroll. I know I visit his blog everyday. The talented Dr Mesko has the most cutting edge information on this fast moving topic. He is my own personal Sherpa. By the way, make sure you vote, there are 4 days left. It's all tied up. "How much is a Sherpa worth to you?" Some of my readers feel like they could take a course to be a sherpa, Others already are Sherpa's, some are looking for a sherpa, and the last want to climb Mt Everest with 1 cleat, a windbreaker, and Wikipedia as their guide. Which are you?

What the F*&^

After reading Hsien's recent post, I am convinced how very much the UK needs a Sherpa. Listen to what is going on in Great Britain from Eye On DNA.

"The UK Human Fertilisation and Embryology Authority has approved the use of preimplantation genetic diagnosis (PGD) to select embryos free of the gene for early-onset Alzheimer’s disease (AD). The couple who applied has a family history of the disease on the man’s side. His mother, grandmother, and two uncles all died from early-onset Alzheimer’s."

Human Genetics Alert has been fighting the good Sherpa fight for years. The problem....the UK is still approving these techniques. I hate to tell all of you, but this is what is coming. Why scan a genome? Why do lightspeed sequencing when you have time to wait? Why? The answer is simple. To rapidly screen blastocysts to rule in or rule out suitability for implantation. I have spoken about Reproductive, Endocrine and Infertility Specialists penchant for not caring about epigenetic implications

Future Pundit talks about the role of Preimplantation Genetic Diagnosis and its ever expanding uses. The specter of looks and intelligence for PGD rears its ugly head. Do I think this is a slippery slope, you bet. Especially when at the REI conference this April there were comments such as "We are the new geneticists" and "We determine mankind's fate" were heard by my Specialist friend. Yikes here comes Aldous........

Let's face it they have yet to standardize the medium in which embryos grow. Has anyone done a solid analysis of the alteration methylation patterns that emerge while growing embryos in different media? Wouldn't it be crazy if these PGD children had some increased risk for cancer? It could happen. This is why you can't perform PGD for mildly increased risk. Why do we call a woman greater than 35 Advanced Maternal Age(AMA)? Simple, because that was the age at which the risk of miscarriage from Amnio equalled the risk of having a child with chromosomal anomaly. Now that the risk is decreased to 1 in 400 will this change AMA? So here's the question now.

Is the risk of having an epigenetic change in your genome predisposing you for cancer etc EQUAL to the risk of disease from polymoprhism in the embryo?

The Sherpa Says: Risk = Benefit is what physicians should always think about. Just because we don't know the risk DOES NOT MEAN THERE IS NO RISK!

LRP8 and Familial MI....Ho Hum

This month in the American Journal of Human Genetics we have some interesting publications. Including an association study identifying a gene known as LRP8. So what is LRP8? It is a receptor for bad cholesterol. When bad cholesterol binds this receptor, platelets (the bricks in your blood that build a clot) become sticky making it easier to thrombose (form a clot).





I am interested in this study for several reasons. First, it has been shown that platelets get stick even after ingesting a Big Mac. That's correct. Just one fast food hamburger can theoretically precipitate a heart attack. So naturally we would love to know who. Think Personalized Diet/Nutrigenomics. I wonder if Salugen can hear me now? I still haven't received their "Scientific Data" yet. I will publicize it if they do.





Back to the study. So what was studied is a group called the GeneQuest families of familial MI, the control group was some white men who were given cardiac catheterization and found to have no atherosclerosis burden (OOPS). Well, that control does not mean they did not have atherosclerotic burden, because catheterization cannot identify 30% occluded vessel plaques.





In addition their findings were replicated on an Italian cohort of familial heart attack as well. So why do I say Ho Hum?





Let's see: No Odds Ratio was greater than 1.43 This 43% increase in heart attack and coronary artery disease is still less than the family history risk itself. The only good thing was that this risk persisted even when controlling for plasma total cholesterol levels, triglyceride levels, hypertension, and diabetes, in addition to age and sex.





What is your odds ratio for heart attack if your father had one prior to 65?


The Answer: 5.8 according to Maren Scheuner's article on familial risk for MI.





Do you now see why I say HO HUM about this gene? When will we see the gene card panel for MI??????

The Sherpa Says: Listen to all of this hulabaloo about Ventner's Genome. Even Men's Health magazine says you should bank your parents DNA if they die. What good is all of this if we don't have a key to the map? The map will make no sense! LRP8, APOE4, I could go on and on. What good is a genome map, without a guide? What good is the guide without the studies? Why did you buy the iPOD early, only to have late adopters get it cheaper? For the rebate? Doubtful. This is why primary care physicians are late adopters. If you want to get your genome (and I do) then you better be prepared to find someone who will help you understand it...becasue cliff notes, or Navigenics just won't do. Nor will scarfing down Big Macs....

1000 Genomes???? Coming Soon.

I have been looking at the genome of Craig Ventner. What Surprises me is that we haven't do this sooner. If you haven't heard the diploid genotype of Craig Ventner is up. And several of my buddy bloggers have posted on it. Blaine posted on it here and has a nice wrap up.

From The Canadian site The Globe and Mail

Most experts predict that routinely reading individual genomes will become a reality within five years as the technology to unravel the six billion chemical units that make up DNA gets faster and cheaper.

Kathy Siminovitch, director of genomic medicine at Toronto's Mount Sinai Hospital and the Samuel Lunenfeld Research Institute, noted that the first Human Genome Project rang in at roughly $1-billion (U.S). But with the new generation of "ultra-fast" DNA sequencing machines that have hit the market within the past two years, she said the bill is expected to drop to less than $100,000 by year's end.

The Sherpa Says: Coming soon 1000 USD genomes. Now who will read and interpret them? Even crazier....where is the evidence base behind treatment guidelines adjusted to your genome??? I can here the uneducated physicians now.But don't be scared my brethren internists. Stick with the Sherpa. We will find our way.

Google Innovation? Google Conspiracy? You Decide

In reading through my RSS feeder I stumbled across an interesting video at Testing Hiatus. It comes from the website Master Plan the Movie. 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?

Beware doctors bearing genetic tests!!!!

Today I am back on the soap box.
But I will also give a little worthwhile and scary data as well.
Yesterday I was at a cocktail party for the physicians in my upscale new england/new york town. I was speaking with an "educated" gastroenterologist. In fact this physician has been in practice for 29 years, went to medical school at Cornell, and is now part of a large practice in suburban NY. He told me that some "lab reps" from Myriad were now going to offices of Gastroenterology, Hematology/Oncology, and Primary Care physicians extolling the benefits of genetic testing for cancer predisposition. This physician said that because of this they are now testing younger patients for Hereditary Non-polyposis Colon Cancer/Lynch Syndrome
He went on to talk about a 37 year old woman who had early polyps, was tested, and was positive for a mutation in a DNA repair gene called MLH1. I told him that was great. Then I asked him who he uses for genetic counseling. His eyes glazed over, seeming not to understand the question. Slowly as if to save himself he said "What does she need that for? She's not having any kids." OMG, I almost lost it. Slowly I said "If you fail to counsel a positive test result, you will get sued." Then his eyes lit up "I better go tell her to get counseling" he said.

• Beware non-genetic doctors bearing genetic tests. 1 in 3 misinterpret tests for colon cancer.
• GI doctors maybe more likely to elicit cancer history in the family, but are less likely to notify AT RISK family or even let the patient know family is at risk
• In my education study that I will be presenting at the Association of Program Directors in Internal Medicine in San Diego I found some scary things as well.
• Residents in academic and community programs consistently fail genetics knowledge exams
• The confidence of an Internal Medicine resident physician in performing family histories is inversely proportional to their performance on knowledge exams!
• Physicians in practice now are even worse than the training physicians today
• But the scary thing is, the ones who have the confidence to DO genetics, actually have no knowledge in how to do it correctly.....That's why we need gene sherpas.

Google your genes part deux?

Not since Google partnered with Craig Venter in 2005 to start using the power of the genome have we heard a peep about the secrets that lie ahead for the two, well and possibly Ryan Phelan. CEO of that company which makes money off of testing people rather than a medical(yes genetics is medicine people) model. Stark II laws made it illegal for doctors to make profits from testing people, so why whould pseudo-medicine outfits be able?
Anyways, where was I? Oh Google.....
In this weeks HealthcareITNews there is an article on Google pushing for better health information on the web. Perhaps to harness the power of the two? Google your genes and then learn about the diseases you are predisposed to....All 50 of them :) This whole thing will not fly without doctors? Doctors are trained to build this list of 50 diseases and then whittle it down to 2 or 3. That being said, genetics is a different story. According the recent ACMG statistics the mean age of most geneticists is 52. There are also less than 1000 MD geneticists in the country! 20% plan to retire in the next 5 years. To fill their shoes? Less than half of the 150 training spots are filed. Google is starting to look like they have a chance. Even worse, in medical school the Association of American Medical Colleges ranks genetics as the 3rd most important topic yet none have a prerequisite of genetics in undergrad for entry. Your internist or pediatrician or Ob knows less about genetics than Google. Who will deliver the future and personalized medicine???? Not them. Maybe Google. Maybe cutting edge genetics practices that have specialized training?
What do you think?