Sunday, January 27, 2008

Sherpa Family Emergency

Today I will be taking a few days off of posting as I head out for a family emergency. But before I do, I would like to point your attention towards David Hamilton's post yesterday.

From His Post:

deCODEme provides its customers with an analysis of SNPs that have been linked to 18 diseases, calculating a risk summary that compares an individual’s odds of getting sick those for the population — well, a population — at large. The trouble, as we noted earlier, is that in many cases deCODEme bases this risk assessment on just one or two SNPs, when most diseases are thought to be influenced by tens or hundreds of different genes. That means the disease risks deCODEme calculates are very likely to be wildly inaccurate — potentially a serious state of affairs for the folks paying roughly $1,000 for this very analysis, even if deCODEme is careful to caution its users not to rely on the data as medical information. (Exactly what other use it might be isn’t entirely clear to me.)

Read the Rest

Thank you all. I will return to the blogosphere ASAP, and announce the big news.

Keep Climbing,
-The Sherpa

Thursday, January 24, 2008

Got TT? Stay away from "water pills"

In case you missed it. In the Journal of the American Medical Association a large retrospective analysis of the ALLHAT trial was done. What is the ALLHAT trial? It was an analysis of high blood pressure, treatments and outcomes. In the land of what us physician folk call Landmark Studies, this is a big study.

ALLHAT was a randomized, double-blind, multicenter clinical trial (623 clinical centers) with 42 418 hypertensive participants aged 55 years or older who had 1 or more additional risk factors for cardiovascular disease. ALLHAT was designed to determine if the incidence of fatal coronary heart disease (CHD) and nonfatal myocardial infarction in high-risk hypertensive patients was lower with treatment using each of 3 antihypertensive drug classes: a calcium channel blocker (amlodipine), an ACE inhibitor (lisinopril), and an -adrenergic blocker (doxazosin) compared with treatment using a diuretic (chlorthalidone).

The posthoc analysis using genotypes was performed from 2004-2005. The results are just being published now. What did they genotype?

GenHAT genotyped variants in several hypertension-related genes in 39 114 ALLHAT participants with available DNA, making the study design a post hoc subgroup analysis of a randomized clinical trial. The goal of GenHAT was to understand gene-treatment interactions on CVD outcomes and blood pressure lowering.... There were 38 462 participants with data available for at least 1 variant.

The variant of interest is a gene called NPPA. Studies in animal models have shown that animals which have "minor alleles" for this gene end up with salt provoked hypertension. In addition and possibly more importantly, these patients showed higher risk of horrible disease such as stroke or heart attack.

I will not get into the physiology of high blood pressure today. But suffice it to say that there are several ways to lower the pressure in our arteries. Think of arteries like garden hoses. If there is alot of water in the hose, the pressure is up. If I take that same hose and that same amount of water, then I squeeze the hose. Guess what? The pressure goes up. So if I can lower the amount of water in the hose or dilate the hose to a bigger size, then I can lower the pressure. The "water pill" chlorthalidone removes water, the amlodipine dilates the hose. The Ace-inhibitor removes water indirectly.

Here's where we get a Landmark result for Personalized Medicine:
The NPPA T2238C variant was associated with modification of antihypertensive medication effects on cardiovascular disease and BP. Minor C allele carriers experienced more favorable cardiovascular disease outcomes when randomized to receive a diuretic, whereas TT allele carriers had more favorable outcomes when randomized to receive a calcium channel blocker.

What the hell does this mean? If you carry the TT pair of this NPPA gene, you shouldn't take the diuretic. Unless you want to have a higher risk of stroke.

The Sherpa Says: Despite being a modest elevation in risk, 126%. It is certainly easy enough to change a person's medications to avoid poor outcomes. This is what Personalized Medicine IS. The right diagnosis leading to the right drug for the right person. This is what we do at my offices. Does this come on the Illumina gene chips? SNP database ID rs5065. To my firend Brandon, check this one out!

Sunday, January 20, 2008

The Sherpa Reaches 20,000

Thank you to all of my readers. I hope we have hit a significant landmark. I know the climbing will be tougher now. I hope you too are prepared for the next phase of this ascent. Remember, getting there is only part of the battle.
The 24th edition of the Genie is up. 24 is my lucky number and this edition delivers, so check it out.

The news that I will announce has to be delayed until Thursday. Sorry, but the legal dept. just won't budge. As for the's a hint. National exposure.

I am dying to deliver my message and have been speaking to the public and the press about this topic. Lee, if you can hear me. Please give a call.

Some great things have popped up over the last week

  • The prostate cancer risk genes and Family history. Guess what? Family history doubles the risk which the genes confer. Big surprise!

  • EGAPP issues its guidance on ONCOTypeDX. Close to ready for prime time. MammaPrint, too soon to tell.

  • Six new genes and Cholesterol? Get the genetic tests? No. Go get your cholesterol checked.

  • Searching for your ancestry? Wind up finding cancer! If this happens to you give Helix Health of Connecticut a call

  • The Gene Count drops to 20k! Should be easy for Google to catalog that.
Stay Tuned!

Saturday, January 19, 2008

Failed the Test? Blame Homocysteine!

Recently there was an article which raised some red flags for me. It explains why we can't be jumping to all sorts of conclusions about genes and their effects.
From Medical News Today:

"UMaine psychology professors Merrill F. "Pete" Elias, Michael A. Robbins and Penelope K. Elias, in collaboration with colleagues in Syracuse, N.Y., England and Australia, studied the relationships among the gene ApoE, homocysteine concentrations, and cognitive performance"

This prompts me to ask what variants did they study and what do they mean by cognitive performance?

Nine hundred eleven dementia-free and stroke-free subjects (59% women) from the Maine-Syracuse study (26–98 years old) were stratified into no-ApoE-4 (n = 667) and ApoE-4 carrier (n = 244) cohorts

The clinical diagnosis of dementia was determined from cognitive data, self-report, and medical records, using the National Institute of Neurological and Communicative Diseases and Stroke/Alzheimer’s Disease and Related Disorders Association (NINCDS-ADRDA) criteria

This is quite a few people, but they do not eliminate those patients who may have had a TIA or separated them by IQ. Which is probably a better way to assess this. In addition, Self report is a notoriously poor way for dementia patients to identify themselves. Remember these people who have dementia frequently deny that they have dementia.

Participants completed the Center for Epidemiological Studies Depression Scale (CES-D [34]) within one week prior to neuropsychological testing. Following a fast from midnight, a blood sample was drawn and a light breakfast was served. A physical examination and neuropsychological testing followed.

Probably some of the best testing so far....

What did they find?

With adjustment for the Expanded model (Basic +CVD+ B-vitamin covariates), we found that persons with high, as versus low, plasma tHcy in the presence of an ApoE-4 allele performed 0.30S.D. and 0.40S.D. lower on the Global composite and the MMSE, respectively. Deficits of this magnitude are of considerable importance at the population level and constitute a risk factor for dementia

Here's where the researchers make a huge error! They state "But there is hope for prevention and reversal of cognitive deficit related to elevated homocysteine by reducing homocysteine levels."

Great! If you have Apo-E4 you should take folate? No!

Hope? Listen, this same old story was thought to be true for cardiovascular disease. "We'll give you folate to lower your risk for heart attack" What happened? Nothing. In fact recently there is literature hinting that folate may actually increase your risk of colon cancer growth!

The Sherpa Says:
So where does this leave us? Is Folate good for those with APO-E4? Don't starting taking it yet. Nutrigenomics is coming, but the data, much like in Personalized Genomic testing, is not there yet. In Folate's case, what you don't know might actually kill you. Or At least give you colon cancer. That's why you need the Sherpas, to guide you through the study trail!

Friday, January 18, 2008

Big News.

I have some big news to announce. But not until Tuesday.

Thursday, January 17, 2008

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.

Wednesday, January 16, 2008

Zetia is No Zocor!

Ok, so I wanted to talk a little bit today about cholesterol and how the human body is often misunderstood. In the ENHANCE trial which tested the effect of Vytorin (ezetimibe and simvastatin combined) versus Zocor (simvastatin alone), results showed that the Vytorin, was no better than the Zocor by itself.

Why did this study get such a big press coverage? Because Zocor costs about 4 USD at WalMart whereas Vytorin can runs hundreds of dollars. But more importantly, it speaks to the fact that what we thought we know about heart disease and atherosclerotic plaques may not be the whole story. This is a very important point.

I urge caution with these test results though. The study only assessed the reduction of cholesterol plaque, NOT, I repeat, NOT a clinical outcome such as reduction in heart attack or stroke. It's not like the original Vytorin studies covered this well either though.

Why do statins work? No one know. Maybe it is a reduction in inflammation, maybe it is the lowering of LDL, maybe it is some pathway none of us know about. This is why GWAS(GenomeWide Association Studies) are so important, they give us clues into what causes a disease by unbiased search of the genes in our body. If we put all our eggs in the cholesterol basket, then, as this study suggests, then we could end up pretty hungry, and pretty poor.
In a recent study published in the journal Nature Genetics, there is an article which identifies new genes linked to high cholesterol and triglycerides (The building blocks of atherosclerosis)

These genes or regions of DNA could be new targets for drug discovery. The problem I have is, until we know what the true cause of heart disease is, designing drugs based on our assumptions could be just as useless as Zetia (the other drug in Vytorin)

The Sherpa Says:
What does this have to do with personalized medicine? Everything! We must challenge old assumptions and cast a doubt on new things that have not been validated. This study should remind us "All that glitters is not Always gold, But Does always have a hell of a marketing team behind them"

Sunday, January 13, 2008

Evidence Base, Not Eminence Base for Genomic Medicine

I recently reviewed a publication in November by Muin Khoury. Muin has been championing restraint with genomic companies and medicine. In the article entitled
"Why should genomic medicine become more evidence-based?" He describes why we need to make the shift and why we haven't been so good at it. One of the biggest reasons is that the geneticists and research PhD geneticists have not needed to use evidence based medicine to publish. This is in direct contrast to large medicine trials, such as those required for blockbuster medicines. In Internal Medicine and Adult medicine, residents are raised on such evidenced based articles to guide best practices.

But where are the Internal Medicine Geneticists? What we need is a hybrid of medicine and genomics research. This is translational medicine, precisely what will be required to move genomic healthcare forward. The problem I see is that the researchers got a little carried away and the recent NEJM article threw a little cold water on them. But what the researchers have behind them now is cash and lots of it. So what will happen? I mentioned some of my ideas. What I truly think will come is that the Internal Medicine Geneticists will come out of the woodwork and start publishing translational studies. Hopefully they will collaborate with Helix Health of Connecticut, or at least with myself at Yale starting in July. Give us a call.

The Sherpa Says: If you let evidence based medicine and some of my guideposts lead the way, you will emerge from this craze better off than most.

GuidePost 1. An Odds Ratio/Relative Risk less than 2 is worthless. Always ask for the OR/RR!

Guide Post 2. Always ask for replication study data before you believe any association. You should have at least 2 replication studies.

Guide Post 3. Read the Sherpa and join the comments. Soon you can sign up for our newsletter.

Saturday, January 12, 2008

Sir Hillary? What about Norgay?

It is with great sadness that I speak of Sir Edmund Hillary's death. I have always respected this man. He Climbed to the Zenith of Mt Everest. He did what few dared to do. He saw conventional wisdom and he laughed in its face. But what was great about Sir Edmund was not that he climbed the mountain. No, No. What made him great was that he climbed down the mountain, giving back to his people, caring for the people of Nepal: setting up schools, educating the locals, raising the standard of living for those who helped him the most.

While I was covering the NEJM article on Friday, Sir Edmund passed away. He was most noted for climbing Everest and reaching the zenith 7 times. More than any other non-Sherpa. Hillary loved his Sherpas so much that he went to Nepal more than 120 times. He set up hospitals, health clinics, airfields and schools.

The reason he loved his Sherpas was simply because he knew how good hearted and caring they were as a people.

I feel that Sir Edmund and Tenzing Norgay's relationship is an analogy for Medicine and the Gene Sherpas all over the world. The feat to climb the mountain known as personalized medicine with its lofty goals of genetic and genomic health for everyone will require just as much planning and care and partnership. Once we get to the top (Yes a true feat) the work is not finished, we must plan for what the next steps will be. We must give back to those who got us there. We must give to those who will get us there again hopefully 6 more times.

The Sherpa Says:

We must be prepared to educate, to heal, to build infrastructure, and to dedicate our lives to nurturing this dream known as Genomic Healthcare/Personalized Medicine. You see, our job as Sherpas is to get Medicine to that dream. But our job doesn't stop there! Many Thanks to Jonathan Freed for reminding me of this everyday.

Thursday, January 10, 2008

Navigenics? Who was that?

So after the New England Journal of Medicine has given Personal Genome Sequencing the thumbs down, I ask you...."What will happen to these personal genome companies?"

I have several ideas....

1. They all morph into non-health related information tools. Every bell and whistle that can be marketed that will not face the scrutiny of physicians will come out of the wood works.

2. They will begin to say "The medical field has no sense of what the promise of genomic medicine is" They will attack physicians' lack of genomic knowledge. This is the tactic which nutraceutical companies use. The 'Ol "We have a secret....most physicians don't know or won't share......because they want you to have disease"

3. They will disappear, like the dinosaurs. A neat phenomenon that gave us something to write about for 4 months. Somehow I don't think Google will let that happen. But hey, ya never know.

4. They all will say "Not to be Used to Diagnose or Treat Disease" EVEN NAVIGENICS!!!

5. A new tool that uses evidence based SNP testing to identify risk will come out of the woodwork and crush them all.

6. They will create dating services around their genome scans. "Find out your perfect mate" "Discover the person who you will have super children with"

7. They will contract the Sherpa, buy Helix Health of Connecticut and it's model. Enabling the spread of directed genetic testing and personalized medicine.

8. DNA Direct and direct to consumer targeted testing will begin to partner with traditional models of genetic and genomic healthcare. They will create a more useful alternative to Genome Scanning, leaving Kleiner & Perkins smoldering for not consulting us first.

9. They will keep on, keeping on. Hoping that the limited scans which they now offer will appeal to those persons who bought a space flight, those who bought the cereal box sized mobile phone, or even those who bought Betamax

The Sherpa Says:

We must remember that Genomic and Genetic Health has nothing to do with these companies and everything to do with Personalized Medicine. My concern is that physicians will now be given a free ticket to blow of genetics and genomic healthcare. It is easy for the ignorant to not know what they are missing.
As the NEJM article says "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." Detailed patient reports are in the skill sets of my physicians.

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.

Tuesday, January 8, 2008

I saw the Future!

Over the last month I have been privy to the future. Let me tell you it is not pretty. At a local hospital we have seen a dramatic spike in patients. Normally we see this spike every year. But this time it is worse. We have so many sick patients that we have had to put patients on life support on the normal floors (Nursing ratios of 1nurse:6patients) instead of the ICUs (nursing ratios of 1:2)

What is going on? It is the future, and it is inevitable. The last phase of "America's Greatest Generation" is now succumbing to the wounds of chronic disease. Emphysema, Heart Failure, Kidney Failure, Metastatic Cancer. You can only live so long. More importantly, we have been able to keep you alive much longer than if we were living in the 1960s or even the 1980s.

The future is here. This economic and medical strain of this critical care will break the system. How can we fix it? We can prevent the chronic diseases. How do we do that? We act before the disease has time to damage us. We use molecular detection, we take family histories, we use genetic screening. But who would pay for that? Smart consumers, that's who.

By identifying risk, we can reduce behaviors that kill us. How do we do this? We won't be able to under the current system of episodic care. We need a paradigm shift!

The Sherpa Says:
Personalized Medicine is that paradigm shift! Prediction, Prevention, Privacy is what is needed here. I have seen the future. We can change it, but first we must suffer from the effects of our unwillingness to change.

Saturday, January 5, 2008

Watching the Debates

Tonight I take a night off of genetics posting to watch the debates. What I can't get over is that the debates are being sponsored by Facebook. Have these presidential debates always been sponsored?

If so, then have they always been marketed like a bowl game?

Will they continue to be?

The Sherpa Says:
My gosh..... I hope these politicos are ready to start "Juicing"

Friday, January 4, 2008

Garbage In, Gospel Out

There is an old saying called "Garbage In, Garbage Out" This saying was coined by George Fuechsel an IBM hack. Other such terms like FUBAR, SNAFU, and even KIBO reflect some of the issues we have going on with personalized medicine and even medicine as a whole.

This term is especially poignant today when the Wall Street Journal casts a shadow on the field of pathology and personalized medicine testing for breast cancers. The drug Herceptin is one of the Vanguards of what I called personalized molecular medicine therapy.
You see, Herceptin therapy is targeted towards a certain type of breast cancer. In this type of breast cancer your cells have a protein located on them that can encourage cells to grow. When this protein is blocked, cells die. Therefore, Cancer is beaten back. The catch, if you don't have this protein in your cancer, you don't respond to Herceptin.

This is the paradigm for personalized medicine. We test your cancer to see if it has this molecule. If it does great we give you Herceptin. If it doesn't, too bad, it's regular chemo for you. But what happens when GIGO takes over? What if the tumor sample is bad? What if the lab analysis is bad? What happens when the lab technicians are inexperienced? Garbage In...

So what do you get? Patients on Herceptin who may have not benefited from this therapy and perhaps would have benefited from the standard treatments. Simply because their test results were reported as positive. Even if this report was a mistake. You see, doctors got caught up in the worst acronym of all "Garbage In, Gospel Out" This term was coined to essential remind us how we often treat computer output as infallible. This is the very same case in medicine with pathology laboratories. I often go to the lab myself to double check results. Time consuming? Yes. Life saving? Absolutely!

The Sherpa Says:

What happens if the same thing occurs with whole genome analysis? Last time I checked, Copy Number Variation, Non-coding sequence, "Dark Matter" are all part of our genomes. Do we have a good handle on how well we can sequence this stuff? More importantly, we must not let genomes become Garbage In, Gospel Out"

Wednesday, January 2, 2008

2008 Here We Come!!!

After some time off thinking about where Personalized Medicine has been headed and where it could go I have come up with some simple conclusions. But first I want refer all of you to my interview with Bertalan Mesko over at ScienceRoll. Bertalan will be headed over to the US and working with me to educate physicians on Medicine 2.0

Why do I refer you to the interview? Because I breakdown molecularly personalized medical services into several categories. There is much confusion as to the term Personalized Medicine. In fact, Helix Health of Connecticut's marketing team has told us based upon their research that some even mistake this field for concierge medicine!!

This article recently released in the New England Journal of Medicine speaks for what I called Personalized Genetics. For those of you who don't know, in 2006 the nobel prize in medicine and physiology was awarded for the discovery of RNA regulation of protein synthesis. This study is a neat expression of this unique technology. By identifying patients with a "Genetic Disorder" (What disease isn't genetic?) researchers have created a new piece of nucleic acid that will actually tell the machinery in the cell to do something other than it was coded to do.

Say Wha? Ok. Muscular Dystrophy is caused by absence of a certain protein called Dystrophin. If muscle cells can't make this protein, then they cannot function. Children often are wheelchair bound before 10. Why can't they make the protein? Usually, the gene which codes for the protein is defective. Its defect causes the gene to protein machinery to stop making the protein very early in its production. This results in a non-functioning protein. This new product PRO051 tells the machinery to pay no attention to the defect. Instead the machinery keeps going and creates a semi-functional protein.

So why is this Personalized? Well, not all people with Duchenne's have the defect required for this medicine to work. But unlike with Lipitor where the therapeutic success rate is anywhere between 40-50%, PRO051 will be effective in approximately 70% of people. Why? 70% of persons with Muscular Dystrophy have the needed mutation. In people with high cholesterol there are multiple different genetic changes as well as environment. But imagine when we can say "You have high cholesterol because of these genes and this environmental exposure. We will cut out this exposure and tweak these genes just a little bit." Voila, No more Lipitor!

Personalized Genetics could become Personalized Medicine...but not yet. I think this author from the NEJM has read my interview too..

"Personalized molecular medicine." As with other catchy terms for big ideas, such as "reversing global warming" and "renewable energy," the concept of personalized molecular medicine is certainly important, but the path to achieving it is far from clear. When such phrases are considered, definitions are important.

Does personalized molecular medicine mean the tailoring of drugs for the individual patient, an approach that evokes images of Bones on Star Trek making instantaneous diagnoses with his Tricorder followed by loud pneumatic injections of customized drugs? Such a concept would place the realization of this technology in the same time frame as the achievement of "warp drive" that hurtled the Enterprise into new galaxies.
On the contrary, personalized molecular medicine appears to be at our doorstep.

Unfortunately, I don't think Dr. Hoffman is aware of Helix Health of Connecticut. Personalized Medicine is at your doorstep too.....

The Sherpa Says: The conclusions are coming. I think Yoda said it best "Patience" This year will require tremendous amounts of it. Francis Collins tells a joke "There is this woman who is married to a research geneticist. He keeps telling her how great their sex life WILL be." Thank you to a certain unnamed TV news series for thinking of me when covering Personal Genomics. I look forward to our discussions. Does anyone think the New Year's Ball looks like an AAV?