23andMe

This is a test you do for the fun of it. Like its competitors Navigenics and deCode Genetics, 23andMe gives consumers the view of their personal genome from 30,000 feet. 23andMe looks at “single-nucleotide polymorphisms (SNP’s-pronounced “snips”). These are sites along the genome where you and I are most likely to differ ever so slightly. However this change might give you “runny” earwax compared to my “gummy” earwax. (I’m not making this up)

When SNP’s were first identified, they promised to change the world. That was when we thought there would only be a few hundred SNP’s that would lead us to the promised land of personalized medicine. Last time I checked, though, there were over 10 million SNP’s that had been patented. That has destroyed their value, because there are good SNP’s and bad SNP’s. Unless you look at all 10 million of them, you won’t know if there might be a good SNP that can compensate for a bad one. Here, too much information became a bad thing.

23andMe looks at 600,000 of the SNP’s, but cautions you not to act on any of the information. Why? Well, with the exception of the well characterized mostly single-gene conditions like Cystic Fibrosis and Huntington’s disease, mutations do not guarantee the disease will ever develop. At best, they increase your chance of getting the disease. But think about this. If the entire population has a 1 in a thousand chance of being afflicted with a given condition, and the presence of a mutation increases your chance by 50% (an unusually high number), then your odds increase from 0.1% to 0.15%. That’s not worth worrying about.

But here’s the fun part. If you’ve always wanted to blame your parents for your “runny” earwax, 23andMe provides the ammo you need. For a great review of this test from an enthusiastic non-scientist, go here.

Visit 23andMe website

Biophysical250

The Biophysical250 is the nearest thing to a “Wiki” you can find in the world of medicine. It aggregates hundreds of different blood tests that have been recommended by leading specialists in the fields of cardiology, rheumatology, gastroenterology, infectious disease, endocrinology, etc. into a single product that provides the most comprehensive overview of your health available anywhere. And it does all this with just 2 tablespoons of blood! The Biophysical250 is also constantly being revised and refined as the rapidly evolving field of biomarker research uncovers new tests that can detect disease presymptomatically. That is the main use for a test like this. The biochemical changes that appear in the blood are often the first sign that a disease is beginning to develop. However, the test has also found many believers among the people who have been living with a medical condition that has not been easy to classify by conventional medical approaches. By looking at the biomarkers associated with almost every system in your body, the Biophysical250 is sometimes able to quickly identify problems that might take months or years to unravel as one is passed from one specialist to another.

Everyone should do this test at least once after the age of 45.

An Optimal Annual Physical: An interview with Dr. Jim Ehrlich

In my search for the best annual physical, I recently had an in depth discussion with Dr. Jim Ehrlich.  Dr. Ehrlich has truly been a pioneer in the field of prevention and comprehensive assessment.  Dr. Ehrlich stated that unfortunately “most people who present to their physician with a life threatening illness are already too late”.  This certainly sets the case of trying to build a better program.  In the early 1990’s Dr. Ehrlich established Colorado Heart and Body Imaging and  introduced electron beam computer tomography for coronary calcium scanning to the Denver area.   Using this tool he could identify patients at higher risk for heart attack.  Over the next decade and a half, he gradually added other imaging modalities such as virtual colonoscopy (Viatronics 3D).  He introduced lung scanning to identify early lung cancer.  He then added bone scanning for early detection and quantification of risk for osteoporosis.  Later Dr. Ehrlich introduced a new type of breast scanning called Sentinal Breast Scanning which uses infrared imaging to identify early breast cancer.  A unique skin imaging called Solar Scan was added to the armamentarium to more thoroughly evaluate and survey an individual’s skin for melanoma.  Dr. Ehrlich’s emphasis has been on imaging technology, but he has also added certain physiologic parameters such as screening for sleep apnea and vascular reactivity which can be altered by atherosclerosis.

 

In our discussion, Dr. Ehrlich suggested developing packages for patients with a certain risk or interest.  These would be heart and vascular package or a stroke prevention package.  He also stated that it is important to combine imaging with important blood biomarkers.  This approach has led to Dr. Ehrlich’s interest in advanced lipid analysis.  Dr. Ehrlich is now the medical director for Atherotech which is a national leader in advanced lipid testing. 

 

According to Dr. Ehrlich the core of an annual assessment will build upon a careful history and physical conducted by the physician and incorporate comprehensive imaging as well as blood biomarker analysis.  For the typical middle-aged adult, Dr. Ehrlich felt that it was important to emphasize screening for coronary artery disease and common cancers such as colon, breast, lung, prostate and skin.  The trend for the future is to expand biomarkers especially those reflecting inflammation (and to incorporate genetic markers as well). 

 

The entire interview is available as a pod cast.

An Optimal Annual Physical: An interview with Dr. Jim Ehrlich - Podcast

Transcript:

Dr. R – I’m here with Dr. Jim Ehrlich and I wanted to tell all of our listeners that Dr. Ehrlich has truly been a pioneer in the field of prevention and we are really honored to have him here with us. He has been in this field for over 15 years. Jim, if you would just tell me about how you got into this area and how you started your center in Denver.

Dr. E – Well my interest over the last 15-18 years has been in what I call “high tech prevention”. From my point of view that’s comprised of new biomarkers, psychologic tests and preventive imaging procedures to give us a clue about the early onset of disease and what we term presymptomatic or sub clinical disease. So my interest started as I was an anesthesiologist and I had really been enamored with prevention and high tech generally. What occurred to me quite early is that most people who present to their physicians with a life threatening illness are already too late. They are providing symptoms to a doctor and the doctor then reacts and our managed care system rewards doctors to intervene when there is a clear diagnosis of problems. But that particular viewpoint fails to serve a very large percentage of people whose first manifestation of a problem might be sudden death or disease that irreversible. For example, more than 50% of people present their first manifestation of heart disease as irreversible either an MI or sudden death. And my interest with a family history of heart disease and noticing friends and family members developing problems very late in the course of disease was to see if we could provide for the public and for physicians ways to identify problems years or decades before they become symptomatic. That drove me to explore methods to detect heart disease subclinically. At the time and this was in the early 90s there was some very promising literature on the value of coronary calcium imaging, atherosclerosis imaging to detect early heart disease and this is being performed at a few centers using electron beam tomography. I basically decided that this was something that I wanted to bring to Denver and then subsequently go involved in centers in three other cities where we provided coronary calcium quantification by EBCT and eventually expanded to other uses of EBCT like virtual colonoscopy and lung scanning for the early detection of Stage 1 lung cancer and eventually added other modalities, things like new techniques for sleep apnea detection, osteoporosis, breast imaging, techniques for measuring vascular compliance and then new blood tests. Everything from bladder cancer to tests that could help determine early biomarkers in cancer. That’s how my interest developed and eventually most recently I became involved with a company that makes a very advanced cholesterol profiling test called the VAP test.

Dr. G. - Wow. So Jim you were really a pioneer in this. I mean the early 90s in coronary artery imaging is really early on. So you started your center in Denver and initially you were pretty much focussed on coronary issues and atherosclerosis is that right?

Dr. E - That’s right. At first we made available to physicians for risk stratification and for the public for screening our EBTC scanner for coronary calcium imaging. Very quickly afterwards we added lung imaging and very selective use of total body scanning recognizing that it had to be used very responsibly and under a physician’s supervision so we allowed individuals to come in either self referred or by physician referral initially for heart scans and then soon afterwards lung scans and total body scans. Then about 2 years after inception, we began to offer CT colonography otherwise known as virtual colonoscopy and we were perhaps the earliest adopter of a technique that has subsequently been shown in multiple articles to be at least as accurate as regular colonoscopy. That’s called the Viatronix 3D technique. By 2005 Colorado Heart and Body Imaging had the nation’s most expensive private center experience with virtual colonoscopy using this very accurate technique. We started added a few other novel technologies. The Sentinal Breast Scan from Stoneybrook, Long Island which is a digital infrared scanning for breast cancer detection, FDA approved for woman 18 and older. We got very interested in new techniques for osteoporosis and sleep apnea termination and melanoma detection using a very unique technology from the Sydney Melanoma Unit in Australia called the Solar Scan.

Dr. R – Tell me a little bit about that. How does that work? Does it have some kind of scoring system for the characteristics of the skin lesion or how does that work?

Dr. E – Yes. It’s essentially a video camera that looks at any pigmented lesion and extracts by multi varied analysis. The 18 characteristics, most of which are not readily apparent to a clinician – the 18 characteristics of a melanoma with a known probability and then is able to weigh all those characteristics mathematically and compare them to a data base to 4,000 pathology proven melanomas and non melanotic pigmented lesions. The computer is able to come up with a score that tells the clinician whether this has a high enough likelihood to be serious that needs immediate excision, whether lesion can be monitored and the technology can detect a 2%-3% change in any characteristic so one of the characteristics of melanoma is a change in the characteristics, but the average physician or any physician could not really monitor and keep track of these characteristics by memory. Also, it’s able to show which lesions can be very comfortably dismissed as non cancerous. So it’s exciting technology proven in the archives of dermatology to be more accurate than any dermatologist who is specially trained in examining these kind of lesions.

Dr. R – So this is really exciting and you know with this battery of high tech tests, really cutting edge stuff, just off the top of your head can you remember any home runs that you hit with this. I mean some great finds that really changed people’s lives?

Dr. E – I think the most common dramatic circumstances have been with imaging and particularly the ultrafast low radiation CT scanner and in our case Electron Beam CT whereas we believe that we have lowered the risk for thousands of people. From a dramatic point of view it’s the instances where somebody comes in for virtual colonoscopy and we find an aortic aneurism or an early renal cell carcinoma these things are not rare and are readily detected because in the case of a virtual colonoscopy, the radiologist is obliged to look at the rest of the abdomen. So I think patients who come in to look at their heart and we find either a lung tumor or a big thoracic aortic aneurism, those kind of things are more dramatic and result in a quick trip to the operating room. There are many, many cases of that kind of thing.

Dr. R – Oh sure.

Dr. E – Having said that, one of the areas that we are concerned about obviously is making sure that people do not believe, for example, that a body scan is a substitute for a good physical exam and they recognize the limitations that some of the things that we find will turn out to be nocuous or not medically significant and that’s the downside and really the reality of any very sensitive screening tests, there will be some aspects of exam that could turn out to be false positives.

Dr. R – Right. Now, the way that this would work at Colorado Heart and Body Imaging, would people come to get as many of your tests as possible in sort of a package to get the sort of overall view of everything or would they just select a few of the tests that they were interested in or their doctor was interested in? How would that work?

Dr. E – We tried to develop programs that combined relevant tests for the purposes of the program. For example, a stroke prevention program would include a coronary calcium image looking for the calcium score to determine the person’s underlying coronary vascular risk. It would include carotid ultrasound particularly looking at the intimal medial thickness and quantifying that. It would include an advanced lipid test looking for risk factors, a review of blood pressure including the stigma corp device from Australia. This is a device that looks at aortic augmentation pressure and arterial compliance and is a direct risk factor for stroke and then also the lipoprotein, LP PLA 2 plaque blood test, a specific marker of vascular inflammation that’s FDA approved as a risk factor for stroke. So an individual interested in stroke prevention might be encouraged to have some or all of those tests within a program. Then others come in just for heart scans or lung scans and then physicians in somewhat of a concierge’s type of set up sometimes will take advantage of 8 or 10 procedures that we have in concert with their own executive physical. So they may choose an ultrasound of the neck, plus a virtual colonoscopy and a heart scan to compliment their office space physical exam.

Dr. R – I see. Now tell me just a little bit about how biomarkers would fit into this kind of a comprehensive plan and by biomarkers I mean blood tests, looking at proteins and molecules and not genomics we’ll talk about that in a little bit.

Dr. E – The way I look at it is that the physician in a sense becomes a detective and is gathering data to get an overall assessment of any clues to early disease. In this respect, serum biomarkers can be very valuable. So for example, an individual who might otherwise to be low risk for heart disease could get advanced lipid test, the plaque test which is the LP PLA 2 vascular inflammation biomarker and maybe in combination with a physiologic test to look for hidden risk factors. So somebody who came in with a family history of premature heart disease, we would want to know do they have coronary disease so they’d get an EBCT heart scan, but I’d also want to know if they had an inherited biomarker of protein like lipoprotein(a), a very atherogenic particle that’s not only pro atherogenic but pro thrombotic certainly runs in families and would signify the need to lower LDL by another 30%. So this is a kind of investigation that we find useful. Then in the field of cancer there are some emerging biomarkers of interest and certainly the concept of multiplexing which I know Biophysical has aluminated, this idea that sometimes looking at multiple biomarkers can help give an idea of whether somebody’s developing a pattern of disease.

Dr. R – Well, great. We’re going to need to take a short break and be back in just a minute.

Dr. R – We’re back with Dr. Jim Ehrlich who has been a pioneer in the field of prevention and started Colorado Heart and Body Imaging back in the early 90s and has continued with that and is now the medical director for Atherotech which has a great new specialized lipid test called the VAP. Jim, I was going to ask you about the role of genetic testing or genomics. I guess in 2000 we finished the project of mapping the entire genome of Craig Vetter and the promise was that knowing what was going on from a genomics standpoint, we could protect every disease someone was going to encounter. What do you see the role of genomics and genetic testing in prevention?

Dr. E – I think it’s going to be a very valuable part of our armamentarium. Especially in selecting and individualizing care. For example, about 40% of diabetics have what’s called a haptoglobin 22 phenotype. Those particular diabetics as revealed by two large studies are extremely responsive to Vitamin E lowering their risk of about 50% of macrovascular events and are very responsive to tight control of their diabetes including statins. So with the controversy about how tightly we should control diabetics because of the recent ACORD trial, physicians are going to be confused and certainly by some of the data that shows that Vitamin E overall may not confer much of a benefit at all for prevention of heart disease. It would be useful to be able to select out those individuals in a setting who could best benefit from our therapies and where the risk benefit ratio would be favorable. That’s an example as what I see as a coming trend. The individualized therapy. Another example might be if a person has a low HDL, a low level of good cholesterol, one person might respond very well based on their genetics to Niacin, another might respond to alcohol and exercise and the future might be that physicians will individualize decisions somewhat based on genetic susceptibility tests and genetic profiling. I see a role in pharmaco genetics. I see a role in counseling patients as far as their future risks and ways of lowering environmental stresses by having the data. It’s certainly very early in the game and there are not a whole lot of circumstances right now that physicians are comfortable doing genetic profiling.

Dr. G – Right. So that’s very interesting. So this would be sort of like delivering on that promise of personalized medicine.

Dr. E – That’s exactly right. A good example is that there are individuals that have a particular type of genetics where estrogen therapy would greatly reduce their risk of cardiovascular disease. This would help again in this area of deciding with all the controversies from the HERS trial and other trials which people would best benefit from either short term or life long therapy based on their genetic predisposition and could help counsel people on the best risk factor reduction strategies.

Dr. R – Okay. Great. So Jim, I’m a middle-aged man and describe for me what would be the components of the ideal comprehensive annual assessment. I won’t call it a physical because I don’t want to limit ourselves to a physical exam, but what would be the components of the optimal evaluation and let’s just put money aside. Let’s just say, what would be the best?

Dr. E – I think it would obviously certainly as a based component it would be a careful history and physical exam. But my feeling is that that’s inadequate including routine blood testing to protect the average individual from likely disorders like heart disease and cancer. Especially based on the family history, we would tend to focus on the major killer which would be cardiovascular disease and also the major cancer killers, lung cancer being # 1 and colon cancer being #2 and for a man obviously prostate cancer is very important. If the individual was 50 years old and otherwise healthy, in addition to the history and physical, coronary calcium imaging I think should be done. There is some controversy of whether this should be done routinely, but considering that we routinely do colon cancer screening to detect the 6% life time risk of colon cancer and we routinely do mammography knowing that only 4% of women will develop breast cancer, why not screen for a disorder that will effect at least 45% of men which is cardiovascular disease. So I think coronary calcium imaging and perhaps carotid imaging to look for evidence of a vasculopathy somewhere is a very good first step. This would help determine future LDL goals. Now we want to characterize the person’s risk further. Instead of stopping with a coronary calcium scan, we then could justify advanced lipid testing which can be acquired very inexpensively and will look for hidden risk factors for heart disease but also fully characterize the risk. Maybe the person has insulin resistance or metabolic syndrome. This may be the first clue to think about the contribution of metabolic syndrome just from a lab test. I also want to have some index of inflammation. If a peson has a positive coronary calcium score, I want to know is it likely that some of that plaque is vulnerable to rupture or unstable and the plaque test LP PLA 2 blood test from Diadexsis has been very useful for us to know how seriously we should take somebody who has let’s say even an average coronary calcium score. So if somebody has an inflammatory situation, I’m more concerned than somebody who has coronary plaque that appears to be quiescent. Then as far as blood pressure measurement we very quickly consider more advanced blood pressure testing either 24 hour blood pressure ambulatory monitoring to decide on if a person really does have hypertension we consider sleep apnea very very seriously and commonly in any person who has hypertension. About 50% of diabetics, for example, have sleep apnea and these are conditions that can be identified early. We like a particular ambulatory device from Israel called the Watch Pad 100 which gives all the information that a sleep specialist would need from a patient’s home worn one night on their forearm, antihypnotic index, oxygen desaturation index, percentage of realm sleep. So it effectively replaces the need for sleep labs in people who have a moderate risk for sleep apnea. So those kinds of things are important from a cardiovascular point of view. Then from cancer prevention, obviously we would give the individual a choice of regular colonoscopy or CT colonography and the American Cancer Society now endorses both of these as front line screening options. Fecal cult blood testing would be added to this and then of course besides a digital exam, certainly a PSA would be the minimum and we’re hoping for better biomarkers for prostate cancer. I think that would be the kind of high tech supplementation to an executive physical on a 50 year old.

Dr. R – That’s fantastic. We’re going to have to take just a quick break and we’ll get right back.

Dr. R – We’re back with Dr. Jim Ehrlich and we’re talking about some really outstanding stuff regarding wellness screening and prevention. One final question, Jim. Looking into your crystal ball, what do you see as the future trends for wellness screening and prevention?

Dr. E – I see that there will be more emphasis generally on blood tests, advanced lipids, measurements of inflammation, a few new biomarkers, hopefully an ovarian and prostate cancer and I think there will be greater acceptance generally of the value of supplementing the history and physical with physiologic and imaging tests. There have been restrictions on this. Certainly insurance companies have largely determined the distribution of prevention by not generally covering some of the more advanced screening tests so this affects who will actually elect to have these tests. I think there will be greater acceptance of some of these tests and many of these will be brought into the physician’s office. For example, endothelial function testing is generally done on a research level. It’s available at certain research centers and now there are two companies that have developed very nice office space for endothelial function test that are accurate and could be available to the clinician to get an ideal of their vascular health and monitor the effects of therapy. So an individual, let’s say metabolic syndrome and whose on statins and other medications could get a measurement in the physician’s office of their vascular health and then be followed along to get an additional indication besides advanced lipid testing of the effect of the lipid lowering regime. These are things that I think are part of the future.

Dr. R – That’s great. Jim, I can’t thank you enough for being a part of this segment and you truly have been a pioneer and a leader in this field and it’s really an honor to hear your comments.

Dr. E – Thank you very much. It was a pleasure.