Sorry to Coriell, Stay of the New Jersey Turnpike

Sorry to the attendees at Coriell Yesterday. They were ready to start participating in the Delaware Personalized Medicine Project. I was scheduled to speak on the topic of "Patient Centered Genomic Medicine" Unfortunately, I was stuck on the Turnpike


Don't get in a car wreck in New Jersey. Trust me!

I don't know if anyone reads Medical News Today but it is filled with great information and studies. Today, it is reporting something which is of no surprise to me. From the article

A new report on genetic testing from HHS' Agency for Healthcare Research and Quality calls for the creation of improved public health surveillance databases and health information technologies to monitor the use of gene-based tests and their impact on patient outcomes.

For the government to spend on this testing, they want to know.......is it worth it? The problem with incorporating genomics into medicine is many fold. But the problem paying for these tests include a deep seated need for the government to know if what they are doing is cost effective. More importantly, is it leading to better outcomes. This type of study requires years and years of follow up. In addition, this type of study could be very, very expensive.

The report entitled:

Infrastructure to Monitor Utilization and Outcomes of Gene-based Applications: An Assessment, found current public health monitoring systems lack the capability to monitor the use or outcomes of gene-based tests and treatments. Report authors identified several limitations of existing databases and potential solutions to overcome these limitations.

So what makes a good test? What makes a worthwhile test? Time and study will tell. Until then we must rely on the professionals who have access to the current data. Ideally we would have a BBB of genetic testing. Or maybe just some continuing education.

Whichever Candidate you support it is likely that the government will support legislation, funding AND regulation.....Even If Al Gore is heavily invested in DTC genetic testing. Simply because the corporations may have ethics does not mean they are not exactly hippocratic.

The Sherpa Says: Yes it is true. Physicians not knowing about genetics could get them into malpractice. But running a DTC company could get you in trouble with the Fed....I guess an investor just has to pick their poison.....or their car crash

Osteoporosis and Gene Tests

Osteoporosis, or porous bone, is a disease characterized by low bone mass and structural deterioration of bone tissue, leading to bone fragility and an increased susceptibility to fractures, especially of the hip, spine and wrist, although any bone can be affected.In simpler terms, osteoporosis is a condition in which the bones become weak and can break from a minor fall or, in serious cases, from a simple action such as a sneeze.

About 85-90% of adult bone mass is acquired by age 18 in girls and 20 in boys. Building strong bones during childhood and adolescence can help to preventosteoporosis later in life.

In the U.S. today, 10 million individuals are estimated to already have the disease and almost 34 million more are estimated to have low bone mass, placing them at increased risk for osteoporosis.

In 2005, osteoporosis-related fractures were responsible for an estimated $19 billion in costs.By 2025, experts predict that these costs will rise to approximately $25.3 billion

So I ask you.....if we could prevent osteoporosis wouldn't we. Early detection and identification of at risk populations is key. Recently there were some great studies that came out of Lancet and the NEJM identifying patients which might be at risk. They are definitely associated in some sort of way, but not ready for prime time. Why? Because there are better predictors

Like?

Significant risk has been reported in people of all ethnic backgrounds.
Twenty percent of non-Hispanic Caucasian and Asian women aged 50 and older are estimated to have osteoporosis, and 52 percent are estimated to have low bone mass.

So more often in Asian and Caucasian women. What are other risk factors?

• Being female


• Older age


• Family history of osteoporosis or broken bones


• Being small and thin


• Certain race/ethnicities such as Caucasian, Asian, or Hispanic/Latino although African Americans are also at risk


• History of broken bones


• Low sex hormones


• Low estrogen levels in women, including menopause


• Missing periods (amenorrhea)


• Low levels of testosterone and estrogen in men


• Diet
  Low calcium intake
  Low vitamin D intake
  Excessive intake of protein, sodium and caffeine


• Inactive lifestyle


• Smoking


• Alcohol abuse


• Certain medications such as steroid medications, some anticonvulsants and others


• Certain diseases and conditions such as anorexia nervosa, asthma and others


• Loss of height (which may indicate a spinal fracture)

So what does genetic testing add to this? From the clinical side....Absolutely Nothing. The risk prediction from these above factors is much higher than the non-statistical significance genes in the New England Journal of Medicine. Nor the interesting findings in the Journal Lancet.

The Sherpa Says:

Listen, back to the basics before we hype up these SNPs in Lancet. Odds Ratios less than 2.0 are not very useful for clinical practice.....So why do they get all this hype???? Because "New Gene For X" Always makes headlines and sells papers.

Ball's in Bush's Court and Why I Love Genome Technology Online!

I hope everyone who reads this will subscribe to Genome Technology Online (This is not a paid advertisement this is my opinion).

Why? If you are asking this, it is likely because you have never received the email newsletter.


I am always impressed by their ability to capture the essence of what is going on in the Genome World Daily. They have excellent reports for purchase as well. But frankly, just getting the email everyday makes my heart twitter (I can't get sued for using that word can I?)


Today they poke fun at Corporate Genomics and make mention of 2 very well written articles. One over at the Wall Street Journal. Yesterday I took Marilyn Chase to task. Marilyn, please don't get mad. Just give me a call next time you are writing about genome studies.


And another story at Portfolio. The WSJ article will be lifted by me or maybe they lifted the Sherpa.


Despite heavy marketing by some genetic-test makers, the wide use of genetic tests has been held back by a variety of factors, including questions about the tests' usefulness and concerns that results could be used by employers and insurers to discriminate against people. Critics argue that many tests can't accurately identify which people are at risk for various illnesses.


Tests are often pricey, costing hundreds of dollars. "In the common diseases, there's more predictive information today in knowing family members had it than knowing" the results of the newly developed genetic tests for such conditions as Type 2 diabetes, says David Altshuler, a professor at Harvard Medical School.


Anna, I loved the article. Well written and balanced. Maybe you could get together with Marilyn?


Even better is the article from Portfolio, where KK at The Quantified Self/Wired contributor and David Ewing Duncan go over corporate genome scans. It is funny, but in KK's blog he finds 23 differences in the genome scans between 23 and Me and DeCodeMe....Get it? "23" David also points out several differences. Gentleman, your risk differences from companies is simple.....Unless viewed in the light of family history, these scans are not relying on much in the way of science. One or two very large studies does not equal good medicine. I am sorry to say that, but it is the G_d's honest truth. You need medical guidance to truly determine these risks.

Hmmm...that's funny. I have only been saying that for the last year.....



To give equal time to these parties...We recently saw a wonderful patient who had one of the Navigenics scans. Here's what we found. The patient had a much higher risk for heart disease based on family history. In addition, may have a familial hypercholesterolemia. I am certainly glad that the patient came to us for a family history. We are seeing more and more of these patients. I think it is because of articles like these.

The message is simple. Don't expect much from these scans and in fact you should have some evaluation by a trained medical professional to make the most out of your results. Not to say these companies can't do great things. They just need a litlle collaboration. In fact Our Values mirror theirs.


As for the WSJ quote by Keri Stefansson. Does he think I am an idiot? You may be able to slip this past the public, but not me.......Obviously all that training in neurology made him forget the 1 year of training he did in internal medicine, Or gave him dementia.


Kari Stefansson, chief executive of deCODE genetics Inc., an Icelandic company that markets an array of genetic tests as well as a broad genetic scanning service, says tests for such conditions as Type 2 diabetes are important, partly because negative results may convince consumers to try healthier behaviors. "All preventative medicine is based on the assumption that you can raise concerns," he says. "Are these guys telling me it hasn't been worth measuring cholesterol all these years because other factors also affect heart disease?"


Well Keri....maybe you forget to tell the paper that an elevated LDL or a Low HDL or a high triglyceride level are like way more predictive of risk for Heart Attack than your TCF7L2 genetic test is predictive of Diabetes. At least by a factor of 10 if not 100. In fact his statement just pisses me off. How dare you, as a medical doctor, compare these things! It is disingenuous. You obviously want to confuse the public and have only one agenda. Selling your test! Shame on you... You are supposed to be a scientific physician. What kind of comparison is that? Do you remember your hippocratic oath? I would expect that hyperbole from non-physicians, but from you???? I am embarrassed.

"In every house where I come I will enter only for the good of my patients, keeping myself far from all intentional ill-doing"


The Sherpa Says:


I hate saying that I have big news when the television journalist drops my interviews in the end. But I have some even bigger news. Stay tuned, I will be able to tell you about it in 2 weeks. It does look like the United States will have big news too, since GINA has now passed in the House. So I say President Bush...."Ball's in your court" As for these articles on corporate genomics. Like Senator Obama, scrutiny is not doing the corporate genomics companies any good.

Let's give everyone Beta Blockers in Heart Failure!

Ok,
So some people have been talking about this wonderful polymorphism in African Americans. This polymoprhism is in the GRK5 gene. What does it do? Well, before I look at any polymophism I always ask. "What does the gene do?" GRK5, short for G-coupled protein receptor kinase, this kinase acts as a switch that essentially turns off receptors. Such receptors bind catecholamines, which are sympathetic system neurotransmitters like epinephrine and norepineprhine. They also bind peptide hormones such as angiotensin, which is implicated in high blood pressure. For the lay person....this gene helps regulate response to adrenaline and other hormones that are in overdrive with stress and in this case heart failure (the inability of your heart to pump your blood).

Why is this polymoprhism important? For a long time there was a thought that Beta Blockers did not help African Americans in Heart Failure. I kept thinking "This is stupid. Not everyone of the same race is the same." More importantly the data with which we applied this broad racist thinking was not the BEST. This applies for many things in medicine. We often jump to conclusions when not thinking genomically. The age old debate about coffee is the same story as well. Until viewed in the light of genetics and CYP polymorphisms, one could say that a cup of joe is bad or good for you. It turns out, if you process caffeine poorly, big surprise.........you are at increased risk. If you metabolize fine....no big deal.

So how does this help us treat heart failure in African Americans? Here's the zinger from the author Gerald W. Dorn II, M.D....

“By mimicking the effect of beta blockers, the genetic variant makes it appear as if beta blockers aren’t effective in these patients,” he explains. “But although beta blockers have no additional benefit in heart failure patients with the variant, they are equally effective in Caucasian and African-American patients without the variant.”

Bingo!! Clinically applicability. But here's the kicker. Will testing for this be clinically feasible? Will the cost be feasible? Some are saying no...including the guy who I just quoted

"That doesn't mean African-Americans with heart failure need to be tested for the genetic variant to decide whether to take beta blockers," Dorn says. "Under the supervision of a cardiologist, beta blockers have very low risk but huge benefits, and I am comfortable prescribing them to any heart failure patients who do not have a specific contraindication to the drug."

What the hell? He just said that the risk benefit was well in favor of benefit for all heart failure patients. This 50 year old white guy(he graduated med school 27 years ago), just proved he was a 50 year old white guy operating under the old set of evidence based instructions. He just said "I am willing to spend the taxpayers' money on a medication even if it doesn't benefit the patient, because I think it would be too confusing to test the patient for this polymoprhism during the first 10 days of therapy"

But I am certain he doesn't see it that way. He sees it as, "I see 20-30 heart failure patients a day. Why? Because my operating expense has gone up and my insurance payments have gone down. So I don't have the time to test these patients....so I just spend the insurers money on these meds. Why? Because they work!" And that my friends is how everyone ends up overmedicated!

I wonder if he ever considered that the money saved and risk averted could be a nice way to reimburse him for the new model of healthcare this nation is now demanding? Hmmm.....Might be one way to get the 50 year old white men on board with Genomic Medicine......"Pay for appropriate usage or non-usage of medications" Listen, don't get me wrong. Beta blockade in heart failure is cost effective. But imagine how much more bang you would get for your buck if you could squeeze that much more effectiveness out of it.

We really need to know how this can affect care. This could be a great clinical example. Berci at Scienceroll is compiling a database of clinical examples. I think that as we see these cases add up, we will then begin to realize the power of Genomic Medicine.

The Sherpa Says:

The only constant is change, and times, they are a changing. I am blown away that this researcher didn't investigate whether it might be worthwhile to test these patients rather than let them be guinea pigs simply in the name of evidence based medicine. Genomic Medicine is here. The passage of GINA heralds its arrival. Even Burrill and Company believes it, so it must be true! To all my colleagues out there....Be Prepared.

Timely Release and A Unanimous Vote

First and foremost, everyone is jumping for joy since the Genetics Information and NonDiscrimination Act passed unanimously today. But, I will not rest until President Bush takes that lovely little pen and signs this into law. I hate to be called a cynic. I am a realist....But President Bush Will sign this into law. Until that, it is just a passed bill. But it is a start.

Second, the American College of Medical Geneticists has put out a statement regarding genetic tetsing and patient care. Hsien, points this out over at Eye on DNA. She does a great job of highlighting the issues. Which, once again brings me to the point that diagnosing pre-disease is just as much medicine as diagnosing full on disease.

The notable item...

minimum requirements for any genetic testing protocol.”
1. A knowledgeable health professional should be involved in the process of ordering and interpreting a genetic test.
2. The consumer should be fully informed regarding what the test can and cannot say about his or her health.
3. The scientific evidence on which a test is based should be clearly stated.
4. The clinical testing laboratory must be accredited by CLIA, the State and/or other applicable accrediting agencies.
5. Privacy concerns must be addressed.

Lastly...with the recent notes that geneticists reach will now be increasing.....We have to start having some minimum requirements.

The Sherpa Says: Well. You have got to ask yourself. If the professionals are stating these are MINIMUM requirements.....what is everyone else doing? And why aren't they all doing the minimum?

GINA will PASS! Thanks GTO!

I was eating lunch today at the Lotos Club with a good friend and mentor from SF today. This gentleman sits on corporate boards and is a tremendous advisor. Do you know what he said to me? Mind you, he always seems to have an answer and the experience to back it up. Today he said "I don't know" That's right, he said those 3 words. I was blown away. He and I agreed that the only reason was simply because.....No One Knows. I liken our venture into genomic medicine much like the microsoft and internet ages. No one knew...they were making up the rules as they went along.

Today, it is the same. Try to play with fire? You get burned. Try to find money for the perfect model and you get beat by someone rushing to market with something less than perfect....who then ends up buying a competitor. Jeez, genomics is the wild west. But I am back East!

I think we are well on our way. But legislators are stepping in and making the playing field bumpy for the non-medical types. Just as they send out threatening letters, the NY Times posts that Doctor No is going to say Yes. It is reported that GINA will have it's day in the Senate!

I have been saying forever that if you pass GINA, all the physician misconceptions of genetic discrimination will be washed away. That being said, there is some good advice here. Always consult your geneticist or counselor regarding these implications.

So as my poll closes tomorrow, it is pretty clear the majority lies with GINA getting passed next year. I voted for next month.....To quote my Friend Happy Gilmore "Somebody's Closer ;)"

So with GINA on its way, it is only a matter of time before we have more people enter this industry. Speaking of industry? Who is going to the Beyond Genome Conference in June?????

I will be speaking there about the fusion model of genomic medicine. Don't miss it! All 20 minutes of it ;)

To close on a Snarky note

My friend and I were eating and I said. Imagine what it will be like in 20 years? We will be the old timers. He said "Yeah, it'll be just like the internet crowd. You will probably be saying 'Man back then it really was amateur hour!'"

The Sherpa Says:

GINA is merely one hurdle.....now we really have to start with education.....of everyone. We must not let our curse of knowledge lead us into thinking everyone can do what we do. Who wants to help me start teaching? Call me. Oh, and Misha....I hope this pic meets your approval.

Too good to miss

Ok....so I have been reading Hsien's discussions about DTC testing good or evil?

This spirited debate is very important. Everyone has concerns about regulations. It is the reason why 23andMe jumped the non-clia certified lab ship (And probably Why Andrew's results were delayed) But it is also why LabCorp has now locked out all other corporate genomic companies for now....

This debate is going to boil down simply to this...I posted yesterday and maintain this position

"Predisposition is Pre-Disease". This is the case with BRCA testing, it is the case with some robust SNPs. The ICD10 codes will catch up with this....

If it is not the case (i.e. for entertainment purposes only, NO HEALTH IMPLICATIONS) then they don't need medical regulation.

So I ask, are the SNPs which are being tested for and reported robust? Are they medically actionable? If so, then you are absolutely practicing medicine...You can't deny that at all..........

Once again from Dr Ralph Snyderman,

Today, most health-care expenditure is focused on the later stages of this process, long after the development of many underlying pathological changes. Until recently, it could be argued that the focus on treating disease was justified because the ability to predict, track, and prevent its onset was not technically feasible. This is no longer the case, and the emerging sciences of genomics, proteomics, metabolomics, medical technologies and informatics are revolutionizing the capability to predict events and enable intervention before damage occurs. Personalized risk prediction and strategic health-care planning will facilitate a new form of care, which we have called 'prospective health care' [1].

The Sherpa Says:
So is it really over-regulation? Or is it just calling some genomic tests "The Practice of Medicine". Which brings up an even more interesting point. Why would anyone want "health related genetic tests" if they Weren't diagnosing a Pre-Disease?

Genetic Over-regulation? Simple Answer.

Why all the worry over regulations?

I was washing the dishes this morning when it finally hit me. With all of this concern coming from Washington D.C. and all the entrepreneurs (like myself) pushing something to market for "brand recognition" i.e. the Mayo or Coca Cola....face it....there is a Branding Element. Well, while we are now moving through MBA or MD 101 what hit was the answer....

You may be asking yourself "What is the question?" But I am here to tell you that the question doesn't matter as much as the answer does. But if you must know....the question is "What is disease?" We have all these people talking about the wellness industry, but we have to be serious with ourselves. There are a whole lot of well people walking around with LDL's that are over 160 (BTW that is pretty high). But if they never get tested for LDL, they never have a diagnosis.

So, I ask you. "What is disease?"

From Webster's

1: obsolete : trouble

2: a condition of the living animal or plant body or of one of its parts that impairs normal functioning and is typically manifested by distinguishing signs and symptoms : sickness, malady

3: a harmful development (as in a social institution)

So what really is disease....Well to break it down it is "Dis" (Lack,Not, Away) "Ease" (Ease). So this basically says that anything which confers a lack/dearth of ease could be disease.

I think this definition is DEAD! The concept was created PRIOR to molecular diagnoses.

I read just about everything that Ralph Snyderman writes. Who is Ralph Snyderman? Ask Misha.

Seriously, he came out with an idea which I think is absolutely brilliant. It is called Prospective Healthcare. Not personalized, not genomic.....ProSpective. Why? Because we will be able to diagnose disease at earlier and earlier stages. His graph is even lifted and put in the WebMD/Navigenics CME course....which BTW is five pages and five questions. Not exactly a whole course line. So if you are looking for a "curriculum" Navigenics. Give me a call and I can help you out.

I have lifted a subset of his graph and put it as the pic for today.

I know, I know but I need to bring this full circle so bear with me ok?

Dr Snyderman has stated that

Today, most health-care expenditure is focused on the later stages of this process, long after the development of many underlying pathological changes. Until recently, it could be argued that the focus on treating disease was justified because the ability to predict, track, and prevent its onset was not technically feasible. This is no longer the case, and the emerging sciences of genomics, proteomics, metabolomics, medical technologies and informatics are revolutionizing the capability to predict events and enable intervention before damage occurs. Personalized risk prediction and strategic health-care planning will facilitate a new form of care, which we have called 'prospective health care' [1].

You gotta love it!

So he says tomato I say "Tomatoe". Either way you slice it. It is what it is. But here's what it means. "Is preclinical disease, disease? Can you diagnose it? Can you treat it?" The answer in some instances is unequivocally YES. This is the case for impaired glucose tolerance.....prehypertension....So I ask you "Can you treat BRCA carriers?" YES. Is it a disease? It has an ICD9 code(V84.01). And it does determine certain insurance coverage, such as breast MRIs.

Well....

Do you see where I am getting? Everyone is up in arms over Over-Regulation(get it?). I think the answer is simple. If your test indicates a predisease condition that "May occur", then you my friend are diagnosing the "New Disease" named predisease. Therefore, you are practicing medicine. So the litmus test and answer is this. If your test does what I have just stated, it should be subjected to the same regulations as the practice of medicine. If it does not, then it should be stated PLAINLY, not at the bottom of a report in teeny weeny writing. I.E. this test has nothing to do with you "Health"........

There...back to the dishes...

The Sherpa Says:

So is it really over-regulation? Or is it just calling some corporate genomic tests "The Practice of Medicine". Which brings up an even more interesting point. Why would anyone want "health related genetic tests" if they Weren't diagnosing a Pre-Disease?

Paduan Learners and Francis

What I always find amazing is the enthusiasm with which medical students learn genetics. My colleague came back from some of our house visits and I had some time to teach. It is as if they were never taught genetics to begin with. I just finished up an hour long lecture with the 3rd year medical students of New York Medical College. I often hear so many..."Oh Yeahs" or "Oh....I get it" answers....That is what motivates me.

After the hour long lecture....I often the tell them that they now know more genetics than their attendings (Older Physicians). This often makes them feel very empowered. I walk these students through the history of modern medical genetics and tell them about the lack of providers in the field. Often this is accompanied with several expletives about how Mendel did us wrong.....


Did you know that medical students in this new century still think that 1 gene makes 1 protein makes one phenotype? It is true....despite the evidence for alternative splicing, methylation, epigenetics...I could go on and on. There is a reason why a certain unnamed CEO at a certain unnamed genomics company said "Teaching Doctors genetics isn't hard....It's impossible"


I think you know who that company was........Unlike others that are teaching physicians through CMEs.


What I really want to know is.....how many doctors are doing what I just did? I am looking to build a Clone Army and don't have the ability to go to Kamino. So to quote Jerry....."Who's coming with me?" Please email me!


The Sherpa Says:


Congratulations to Francis Collins on his recent Ethics award. He is the George Washington of our genomic union. If we could only clone thee....methylation and all!

Over-regulation

Today I wanted to focus some attention on the issues of regulation and over-regulation. This is super important now that Wired has called this "business" an Industry. (Mr Goetz, next time feel free to call me when looking for quips.) When writing any good business plan one should obviously do a risk analysis and a SWOT analysis. If this is not done there likely will be failure to identify perceived threats to your business or business model.

Why is the Sherpa talking about business? Because, Genomic Medicine is being driven by business. Why? Because academia has failed to take the bull by the horns. Why? They are comfortable in their own realm. This is a stretch for them. I often like to blame this on the fact that Geneticists aren't usually trained in Internal Medicine (Most are Pediatricians) and Internists aren't trained at all in Genetics. While this is true, there are many other physician stake holders out there including OBs, Surgeons, Oncologists (Which are usually Internists), FPs, RNs, DOs, I could go on and on. But the mere fact that I don't mention much about them is simply because it is more of the same. In addition, only recently has the government been putting its dollar behind genetic research in common diseases. So why touch this risky topic of Pharmacogenomics, Risk Stratification and Genomic Medicine?

If you look at the business side of Genomic Medicine it becomes clear it was designed by those who do not value genetic services....other than testing. But here's the real reason: Genetic Care is a losing proposition. You cannot make millions of dollars from hiring the best genetic counselors and geneticists and taking Insurance payments. In fact you would be lucky to get minimum hourly wage for their services. Don't believe me? Talk to the Advisory Board Company.

So why is it a push, push, push for testing? Because insurers pay for testing...in fact they pay a pretty penny. Myriad charges 3125 for the BRCA analysis, some DTC companies charge several hundred more for "brokering" the test. They claim that the rest is cost for genetic counseling. If this is true, I applaud them for paying the genetic counselor 300 to 400 per case. That is the proper salary for them. If not, then where is that money going?????

To bring it full circle......Testing is where the money is at (right now). What is the Threat to testing? Over-regulation. The government can make it so tough to operate a lab that it is not economically feasible. Will that ever happen? I sure hope not....but it is headed in that direction. This is why the big firms like 23andMe are now scrambling to switch to CLIA approved labs.

Ladies and Gentleman, I submit to you that CLIA is only the beginning.......

I know that I have been pushing for self-restraint from these companies. Media hype and Marketing Ploys even affect physicians. This is the reason why they could kill this field for all of us if not done properly. Don't get me wrong, in the seeds of these companies lies some potential to do great things....It just hasn't been growing that way yet. But if you piss off the AMA, ACP, SACGHS, FDA, CMS, GAO, US Senate, Department of HHS, FTC, ACMG, NHGRI....I could go on and on.....Point is, the beltway is salivating over this topic.

But the truth is, by rushing to market they have brought this plague of over-regulation on all houses. This is coming, trust me. Government always has a way of stepping in too late and then over reacting (at least when it comes to legislation). This was the threat that should have been anticipated.....but more importantly...In any good business plan there should be some strategy to mitigate this threat. Where in the hell was that? Why hasn't this been enacted? Rookie mistake.

The Sherpa Says: We need to work with the government. Now more than ever. Otherwise....the US Govt. could crush the entire promise of Consumer Invested Health Care. Or at least destroy the vendors who stand poised to bring about this revolution. Look no further than at our candidates

DVPMP and Me

So today I want to ask all of you a question. Is there a conflict of interests if I participate in the Delaware Valley Personalized Medicine Project and sit on its Informed Cohort Board? I have been giving this some thought lately....

This is a wonderful project with some very secure privacy measures akin to Swiss Banking. Unlike other Direct To Consumer projects this is Funded. Unlike others we will be evaluating on a rolling basis and releasing data that is reviewed by our board. I would love to participate.

So I ask.....would it be a conflict if I reviewed the data AND had submitted a sample?

If I paid for the 23andME or deCodeMe would I have reviewed my OWN data. You are damned right I would. So what makes this different? I would be reviewing and commenting on others' data too. The important point is that we only release medically actionable information after we have discussed it. So in essence I would be blinded to my data until after we had reviewed the studies.

So........

I ask....."What do you think?"

Safe to Smoke? Bull$h!*

I am so pissed off this morning. Mainly because of the assault that must be led by Phillip Morris, DeCode and the Devil Himself.

In a recent press push.....from as far as I can see. There is now a "magic bullet" for smoking and avoiding cancer. Recently published data in the Journal Nature is being over hyped. From Good Morning America to Fox News to MSNBC to my friend Hsien at Eye on DNA (Well hers isn't so much hype)

From Her blog

All three studies identified regions on chromsome 15 that are associated with nicotine dependence, lung cancer, and peripheral artery disease. The deCODE study focused on SNP rs1051730 located on chromosome 15q24 in the CHRNA3 nicotine acetylcholine receptor. People with one copy of the “T” version of this SNP had:

30% increase in risk of lung cancer OR of 1.3
20% increase in risk of peripheral artery disease OR of 1.2

Half of people of European descent have at least one copy of the higher risk SNP and 10% may have two copies which increases their cancer risk by 80%...... OR of 1.8

From the Nature Report
Tobacco is thought to be responsible for about 5 million premature deaths every year and smoking is still clearly the largest risk factor. But the new results suggest that, amongst smokers, some people may be as much as 80% more at risk than others thanks to their genes.

A solid analysis...but there are some old statistics out there that you need to know...
First, in the quoted 80% study the Odds Ratio of cancer in Homozygotes was 1.8. OR of 1.8 equals an increased risk of 80%.....That is small potatoes. Why? See here.

Well, In an environmental analysis in 1990 it was found that children exposed to Household exposure to 25 or more smoker-years during childhood and adolescence doubled the risk of lung cancer an odds ratio of 2.07. Obviously genotype was not evaluated.

So why is this group of smokers likely to quit if they even won't quit to prevent their children from getting cancer? Just chalk it up to the genes!

So what is the risk of cancer for smokers? You should go to the NCI website and see for yourself.

Is this a worth while genetic test? No. The risk of head and neck cancer, something smokers get too is skyrocketed in the face of family history or alcohol consumption. If you think 80% is high, try 4200%....... naive reporters (Except for you Amy, sorry to bash your colleagues) To predict lung cancer risk more accurately, try the M.D.Anderson Model.

Why is this study and the press surrounding it silly and misleading? Because smoking causes more than just lung cancer......The study should have included all cancers....in that case you would have found much more interesting results...

The Sherpa Says:
Bottom Line, if deCode comes out and markets this test they should be shot. If they do sell it, it is only a sign of how absolutely horrible the financial position they are in. Smokers don't need further encouragement to keep smoking.....It is hazardous to them and the ones they love. Just quit....most people can't stand your smoke or paying for your cancers.... Here's to NY!

4 Days too long

As I sit here in the Sheraton New Orleans before our presentation I am re-living my days here in New Orleans....

When we arrived I immediately had to go get Jambalaya.....and then diarrhea..........

The next day I went to the "World Famous" Cafe DuMonde....I was filled with excitement about this exotic sounding place.....If I only would have google'd it first. When I approached the cafe from Jackson Square I saw what seemed to be perhaps a beach side cafe with a starving artist out in front of it.....I must admit when I got in the Green and White Awning open air cafe I saw a neat business model and tasted what I deem "smooshed funnel cake". It turns out at the Cafe Du Monde, the waiters take your order, pay the cashier...almost as if they are reselling the goods........meaning the Beignet! That fried dough smashed with powdered sugar....sounding eeerily like a Rye Playland funnel cake. Guess what in addition to the funnel cake....sorry "Beignet" they also sold coffee laced with a retinal poison called Chicory. That's correct...long term consumption of this substance leads to dimming of the vision and damage to the retina.

What in the hell? Clog your arteries and go blind at the Cafe Du Monde......So good actually that I went twice! Take That Medicare! Feel free to pay for my stents!

The Sherpa Says:

Stay Tuned for more...I have to go set up now.

Oh When the Saints

That's right, I am off for the big N.O. this next week. I will be attending the Association for Program Directors in Internal Medicine annual chiefs' meeting. I am on the faculty and will be giving a session on....you guessed it. Genetics curricula in Internal Medicine. I will be accompanied by Mike Murray MD of Harvard, Mark Babyatsky MD of Mount Sinai, Cyrus Kapadia MD of Yale and Charles Seelig also of Yale New Haven Health/Greenwich Hospital.

We will be getting the group motivated about teaching this important topic. I have to tell you that this is the rate limiting step. I think that the AMA can hand out as many brochures as you want...but change starts from within.

So...The Sherpa will be taking a Vay Cay for about a week. I won't stop monitoring the BlogoNome but my output will be diminished....unless there is some really juicy stuff.......

The Sherpa Says:
Keep Climbing............

I lost my Train....

So last week I asked the question. "Where would we be if we had a 1000 USD genome by next year?"....But more importantly I asked "Who would lose if we had a 1000 USD genome by next year?"

So who would lose?

I am having a hard time coming up with these. I think they tend to breakdown into several groups

1) The group who benefits from not being able to target medicines and diagnoses.

2) The group who would is scared to know what the secret of the genome holds

3) The group not nimble enough to change their practices and adopt new technologies

4) The group whose genomes hold some horrible secrets and disadvantages that have previously gone undetected

5) Those who I have left out, the unknown unknowns

So let's address one at a time

First up.....Who benefits from trial and error medicine? Who benefits from not having cheap genome sequencing

1 Big Pharma.....buy the drug.....doesn't work......buy another and another and another

2 Hospitals.....Chest Pain?????.......Admit to rule out heart attack........Chest Pain Again????.....Admit and repeat the process again..... To a certain extent this is true.

3 Device Makers........Obesity????.....Have a LapBand..........Funny Heart Beat?????.....Have a pacemaker. We are talking thousands of dollars per device people!!!

4. Knome....(Sorry George)

5 Patented genetic tests.....

6 Not the SNP people....their products now are merely the entry level players....They will switch to whole genomes ASAP....Trust me.

Can you think of others? I bet you can.....So who are they?

The Sherpa Says:

This is how we need to think about the barriers and how to break them down. We need to show who loses how they can win. Then we get them invested in the process. That is what the Wall Street Journal Article is all about.

500 Hospitals want to know....

Lots of stuff happening online today. I just left a conference call where I was the invited guest panelist along with Robert Resta CGC. The Advisory Board Company and The Innovations Center presented an Issue Brief entitled-The Genetic Testing Frontier: Impact on Clinical Care, Market Opportunities. Hundreds of hospitals were online wondering how they too can get a piece of the action.....

Also....did anyone read the Washington Post today? Genetic Testing Gets Personal again another article on this "revolution" non subscription link here

"We call it consumer-enabled research," said Linda Avey, co-founder of 23andMe, based in Mountain View, Calif. "It's about changing the paradigm of how research is done."

Well Said.......You could also call it uninformed cohort analysis...."Free Kits?" Come-On....nothing is free. Davos, you sold your DNA for some fancy flash animation and trinkets....I am guessing the Belmont Report is not required reading in MBA schools...Hey guys don't worry, here are the Cliff Notes

The Belmont Report explains the unifying ethical principles that form the basis for the National Commission’s topic-specific reports and the regulations that incorporate its recommendations.

The three fundamental ethical principles for using any human subjects for research are:

(1) respect for persons: protecting the autonomy of all people and treating them with courtesy and respect and allowing for informed consent;

(2) beneficence: maximizing benefits for the research project while minimizing risks to the research subjects; and

(3) justice: ensuring reasonable, non-exploitative, and well-considered procedures are administered fairly (the fair distribution of costs and benefits.)

These principles remain the basis for the HHS human subject protection regulations.

Paradigm of how research is done???? Isn't that why we developed IRBs? To protect from those who want to change the paradigm and injure the patients? IMHO these companies need to immediately develop research protocols and IRBs. End of story....nothing less. The consumer should be allowed to at least ask questions to another person.

It can be entertaining, Venter said, to learn one has a gene for soggy earwax. "But if you're on the receiving end of one of these tests and are told your probability of having a serious problem is 62 percent, what the hell does that mean?"

And that is assuming the results are correct. As it turns out, many gene tests today search for DNA patterns that have been linked to a disease or trait in only one or two studies. Such findings are often overturned by later research.

Enter the trained professional.....This is precisely why we need more Sherpas!!!

Dr Venter is completely correct....the brick and mortar where professionals exist is the transition point. Even 500 hospitals online today acknowledged that. Now where do we get these individuals?

Exacerbating the problem is that virtually no one is watching over the industry. The Food and Drug Administration does not regulate most gene-based tests, and there is no federal proficiency-testing system for companies offering them.

Enter the SACGHS and EGAPP...2 organizations devoted to helping best practices....In addition, the ICOB at the Delaware Valley Personalize Medicine Project will also help shape this future.

"It creates an air of charlatanism that doesn't help the field," Venter said.
All told, concluded a study in this month's issue of the American Journal of Human Genetics, "There is insufficient scientific evidence to conclude that genomic profiles are useful in measuring genetic risk for common diseases or in developing personalized diet and lifestyle recommendations for disease prevention."

That is my number one concern. Here's why...geneticists and genetic counselors require referrals from physicians who don't speak genetics, but watch the national news and read the New York Times...If they link Medical Geneticists with Scientific Match.....There Ain't no way in hell any self-respecting, butt-covering, good physician will refer patients to such "Qwacks" simply due because of the confusion. All press is good press? Don't think so...especially when the NEJM posts such a confusing article failing to clarify the difference.

"I very much worry that all this emphasis on a 'gene for this' and 'gene for that' raises the risk that people will conclude that that's the whole story," Collins said. Instead of empowering people to make healthful changes in their lives, that could simply make them "more fatalistic," he said, "in which case, what's the point?"

Me too Francis...Me Too....

The Sherpa Says:

To climb the mountain we need unreasonable people that won't quit....Corporate and Academic can exist together...provided they do the right thing. Do it yourself surgery is probably just as "Revolutionary" so why isn't anyone on that money train? BTW the pic is of do it yourself LASIK.....I bet that is a best seller.

Match Day for Doctors.....Hooray!!! NOT!

Imagine training extremely hard for 4 years....AFTER college...only to find that you will have to train for another 3 or for before you ever will be able to say you are a board certified doctor....Now imagine that you may not get your first or second or even third choice as to where you will train for your last 3 to 4.

Every year medical students in their last year go from state to state interviewng for positions to train in the specialty of their choice. This trek last approximately 4 months from November to March. In Late February the medical students and the residency directors make their "wish list" much like an NFL Draft list...looking for their next All Star Doctor. This process culminates in Match Day...a day when all the US medical students open up an envelope and find out where they will spend 80 hours a week for the next 3-4 years.

Unfortunately, you can't be ranked if you never go for an interview..... So why in the Heck am I talking about this on a personalized medicine blog? Because this day determines how many residents match in the field of Medical Genetics.....

Despite what many DTC genetic companies may say, the true lasting power of genomic medicine lies with the physicians. So naturally the future lies with our future physicians....

For many years the most physicians enter the field of Internal Medicine, this year is no different 4800 total medical students will be training in Internal Medicine. Half of those will be US grads. Why does the percentage of US trained students entering US residencies matter? Because it shows how popular a field is for the US students......assuming the US grads get their picks first.

So what were the stats? Click here to see So where is the future?

The highest percentage US grad filled field? 100% in Fields like Dermatology-low work, load high pay

The lowest percentage? Medical Genetics 25%

Next we look at how many spots were filled as a determinant of popularity

The highest percentage filled? Once again Dermatology, etc 100%

The Lowest? You guessed it Medical Genetics at 50% filled. 10 spots!!! 5 filled!!!

This is consistent with the current training environment where only 50% of all training positions in medical genetics are filled. In dermatology you can make 1 million USD a year...In medical genetics 100-160k USD....

The Sherpa Says:

Match day? Maybe if Medical Geneticists made the money that ScientificMatch makes.......

How can we fix this gap? Corporate Genomics claims to have an answer.....I think mine is better.

What would we have?

I implore you to think about it. Investigate it. What would we have if we could identify billions of base pairs? Could we give it to you in a neat 23andMe package? Could we hand you the printout Gattaca style? What would we have?

Today I received an email from a very nice gentleman from Suracell. He had sent me an interesting report. In this report I felt that I had said similar things about nutrigenomic testing. I asked "What do we have?" This report only strengthens my beliefs. To look at what we would have, we need to look at what we NOW have. GWAS through SNPs, SpitKits..because these studies are called genome wide.....some are inferring that to mean genome scans....Which they are not....even if they were....which they are not....what can we do with these things?


The knee jerk is "Nothing" The real answer is "It depends"


It depends on whether or not we have adequate data defining actionable items. But why does this even matter when the global market for personal gene testing is valued at approximately 730 million USD and growing....who in their right mind would want some of that? Why not make the quick buck for now and stay around for the real party later??? It very well may destroy us, that's why. Enough about now what about the 1000 USD genome? Well what if "it depends" suddenly became it depends a whole lot less of the time? That is precisely what we would have if whole genome analysis was available for 1000 USD.


We would have a whole lot of data that we may or may not be able to analyze. Then, if we can analyze the data...How will we act on it? I am simply amazed by the power of the genome...I have seen it damn men to heart attacks and strokes, I have seen it punish those who do not pay attention to it. I have also seen it bless individuals making them impervious to the effects of hard drinking and cigarettes. I have seen it help cure cancers and I have seen it stupefy physicians. What I haven't seen it do is explain to us how we can use it. We still have to figure that out Ladies and Gents....





So what if we have a 1000 USD genome? What would we have?

The Sherpa Says:


We would have a whole lot of work to do.........Stick around, we are only at the base of the mountain. THAT is the answer to where we would be. Now I want to know "Who loses?"