Wishes For 2014

 

Happy New YearMay You Finally Get That Colonoscopy That You Have Been Putting Off

May Your Donut Hole and Waist Lines Be Shrinking

May Your HDLs All Be High and Your LDLs Low

May Your Exercise Be Increasing And Your Diet Becoming More Vegan

May You Finally Get That Sleep Study Before Your Snoring Shakes Down The House

May You Finally Get That Shingles Shot Even If Medicare Won’t Pay

May Obamacare Be Kind To You And High Deductibles Stay Away

Best Wishes For A Happy And Healthy New Year From Dr Taubman & Staff

 

FDA Pulls Plug On Consumer Genetic Testing – Part 2

311663_10152057025282802_559411158_nFDA…“More than 5 years after you began marketing, you still had not completed some of the studies and had not even started other studies necessary to support a marketing submission for the PGS (Personalized Genomic Services)…. We still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses….  The company is therefore barred from sales of the service for any potential medical applications until the necessary data is submitted and a regulatory decision made.”  Click Here For Part 1

23andMe On Its Website…  “At this time, we have suspended our health-related genetic tests to comply with the U.S. Food and Drug Administration’s directive to discontinue new consumer access during our regulatory review process.  In the future, you may be able to receive health-related results, dependent upon FDA marketing authorization.”

So where did 23andMe, a company  whose product in 2008 was named by “Time” as the Invention of the Year, go wrong?

Certainly a big part of it is that the premise in 2007 that analyzing more and more genetic variations would make it obvious to all what our medical destiny would be has not really turned out to be the case for common ailments like heart disease, diabetes, and cancer.  At a technical level the 23andMe model relies heavily on what in the trade is called Genome Wide Associations.  Such associations tend to be weak and complicated by the unknowns of how multiple variations, some implying higher risk, some lower, and the environment all interact.  And, assuming that the numbers they quote were actually accurate, which is questionable and to which the FDA is demanding proof, does knowing that your risk of prostate cancer is 10% greater than the average really help you?   Probably not.  Rather, such weak associations have been most helpful to researchers looking for tea leave signs of what causes cancers and other ailments and to develop medicines to treat them.

Now, it is true that a handful of genetic variations have been strongly linked to a significant risk of cancer in an important minority of people.  BRCA testing for risk of ovarian/breast cancer and Lynch Syndrome testing for hereditary colon cancers are the two most important examples where genetic testing can be helpful and even life-saving.  Unfortunately, this is where 23andMe really in my opinion dropped the ball and the FDA really pounced on the BRCA example.  The fact is BRCA testing really does require a trained professional to explain, yet 23andMe does not offer access to genetic counseling – just your results.  And as a primary care physician who spent three months in training from the City of Hope in these matters, and who gets referrals from other primary care doctors, oncologists and other specialists to spend over an hour explaining the pros and cons of being tested, the ins and outs of what a negative result, a deleterious result, and a variant of unknown significance truly mean – What 23andMe offered in this regard was glaringly incomplete and potentially ripe for misunderstanding by some patients and even some doctors.

For instance there are hundreds of genetic variations that are cancer predisposing within the BRCA genes, but only three were being checked for and reported by 23andMe; plus the methodology they used to test for those three while Myriad held the patent was not transparent.  Furthermore, the genetics of BRCA – associated breast and ovarian cancers can get complicated.  For instance, it is now well known that wholesale missing parts of BRCA genes, or the opposite, duplications, are not easily captured by the testing 23andMe performs, yet can create the same high disease risk.  Checking for these duplications and deletions requires a different technology than that offered on the chip that 23andMe uses.

At the end of the day, their business model and philosophy that “it’s your DNA and you should have access to it” minimalized the concept that this can be complicated stuff that should involve medical professionals. In a telling interview in the “New York Times” in 2010, which in retrospect they might now regret,  Esther Dyson, a director of 23andMe was quoted as saying it is “appallingly paternalistic, to think consumers could not interpret genetic information without help of a doctor… People can understand statistics about baseball,” she said, “and I think they ought to understand statistics about genetics.”

Obviously, the FDA disagreed.  What do you think?? [polldaddy poll=7679176]

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New Blood Pressure Recommendations – The End of Personalized Medicine?

HypertensionThe first new national blood pressure guidelines in over ten years are out, and I think it fair to say that they say as much about  how medicine is to be practiced in the future as they do about the treatment of blood pressure.  First about the recommendations themselves:

  • For most people the goal remains to get the blood pressure below 140/90
  • However, for those over the age of 60 the goal shifts to 150/90
  • For those with diabetes the goal blood pressure is no longer 130/90 but shifts to that of the general population,  ie. 140/90 and 150/90 for those over 60.  Ditto for those with chronic kidney disease
  • For those already on medication and feeling fine, there is no need to change their present regimen even if their blood pressures are lower than the newer goals

On the heels of the recent changes in cholesterol guidelines, it is fair to question the whole process of how these sweeping recommendations get made and where the process is taking us.

Both the cholesterol guidelines group and the hypertension guidelines group were appointed by the National Heart, Lung, and Blood Institute of the NIH.   That is where the similarities tend to end.  For example:

The cholesterol group tried to take a holistic approach to help decide who would benefit from statins by coming up with a formula that took into account other risk factors, such as the presence of diabetes, hypertension, smoking history, age, sex, and ethnicity.  The hypertension group only took into account age.   As patients with high cholesterol often have hypertension, it is difficult to reconcile these different approaches.

The cholesterol group  looked for answers by reviewing different kind of studies,  sometimes using studies of the “meta-analysis” – and “observational” type.  The hypertension group instead looked almost exclusively at types of studies known as “randomized controlled trials”.  Randomized controlled studies on large groups of people are very expensive to do so there are not that many out there to review.

In the absence of studies to prove something true, the cholesterol group was more likely to use a consensus of experts to come up with recommendations; while for the hypertension group, the absence of hard proof often meant no recommendation or even retraction of a previous recommendation.  The case of blood pressure targets in diabetics is an example:  For years primary care physicians, diabetic specialists, cardiologists, eye specialists, and kidney doctors have been advocating making the blood pressure goal for diabetics lower than for the average person in the hope that this would forestall some of the feared complications of the diabetes.  However, the hypertension group felt there were no definitive studies out there to answer the question as to whether that really was true and therefore deemed the lower blood pressure goal no longer valid.  According to this type of thinking, no definitive data one way or the other carries the same weight as adverse data.

Depending on one’s personal experience and training,  different doctors may agree or disagree with some of these newer guidelines.  I for one have always advocated  less strict guidelines for elderly patients in the treatment of hypertension because of concerns about falls caused by  over treatment, but conversely feel that most diabetics should strive for a lower blood pressure goal than the average person.

To be sure coming up with recommendations can be difficult.  Definitive answers are not easy to come by particularly when a treatment may take decades to show an effect, as is the case with arteriosclerosis.  Think of the new house you bought thirty years ago;  now a pipe develops a leak.  Was the leak due to the fact that the pipe was a then new plastic, or that ten years ago you switched from well to city water, or maybe it was that water heater that had a recall?  Can’t figure  out the reason for the leak?  How about looking at the leak experiences of ten thousand homeowners combined?  Still can’t find the answer?  How about looking at the collective experience of a million homeowners?  Aha! You think you’ve found the cause – but did you? Because now those million homeowners are spread out over different states with varying temperatures and humidity.  Well,  you get the picture.

Yet, when you see how different groups of smart people can come up with such seemingly divergent approaches to analyzing the literature and making recommendations,  you can’t help but wonder if what we are seeing here has as much to do with who is invited to be on these groups and the personalities of group members and their leaders.  For those of you who have served on committees given expansive charges and latitude, this should be no surprise.

These “recommendations” are becoming increasingly important for a number of reasons.  First, for those interested in promoting quality they provide a quick and easy way to judge the “quality of care”.  So, if all your patients are meeting the new guidelines then your care is considered good – Never mind that last year when the guideline recommendations were different your care was considered less than optimal.   Insurance companies such as United Health (profits of 7.2 billion dollars last year) want to prove to their large group customers that there is value to the high premiums they charge and that they are doing something to help keep their employees healthy.   As a result tracking adherence to recommendations has itself become a big business as insurance companies contract with companies to scan medical records and review prescription records and then send faxes to doctor’s offices suggesting changes in medications.  What we really need is a study to see if any of this accomplishes anything other than killing a lot of trees and diverting doctors and their staff from doing what they are supposed to do – which is to take care of you.

Similarly, in the name of “quality”  insurance companies may not want to pay for medications for individuals who are outside the “recommendations” unless the doctor’s office goes through a complicated prior authorization process.  Finally, these one size fit all recommendations fit well into a growing pattern whereby experienced physicians are being judged by computerized checklists and increasingly replaced by non physicians such as nurse practitioners and physician assistants who, given their more limited experience and training, are more likely to use computer generated guidelines when providing care and less likely to step outside the box.

There was a time when patients came to their physician with the hope that their  doctor’s experience would help them come up with a recommendation personalized to them.  In the medical field we call that “clinical judgment”.   And the sign of a doctor with good clinical  judgment was that, when they didn’t know the answer, they would ask a colleague whom they trusted to share their expertise.  Medical reports then tended to read, “In my experience Mary would benefit by….”   Nowadays the computerized reports tend to read, “According to the Jupiter trial Mary would benefit by…”  For better or worse – the new recommendations, and in particular those of the  hypertension group, seem to be taking us further away from that lofty goal of personalized medicine.

p.s. Like what you are reading?  Please share with your friends and neighbors using the links below!  Want to start a new topic or start receiving weekly e-mail summaries of our health blog?? Click Here

FDA Pulls Plug On Consumer Genetic Testing – Part 1

311663_10152057025282802_559411158_nThe year is 2007 and the genetic revolution is in full swing. Medical science has already performed the initial sequencing of the human genome at a cost of a few billion dollars for the first dozen or so people tested and now the cost of genetic testing is dropping from hundreds of millions of dollars per individual to hundreds of thousands to ten thousand dollars and the idea takes hold that we would soon each have affordable access to our personal genome.  Empowered by the knowledge of what illnesses we would be destined to get we could be proactive.  Worried about diabetes risk? Just check your DNA and if not predisposed eat what you want to.  Worried about heart disease? – well maybe there are screenings that you need to start undergoing earlier in life than the average person – Or perhaps your risk is actually genetically so low so you don’t need to take statins or blood pressure medications and can avoid the costs and side effects that your neighbors have to put up with.  And for those who don’t like going to the doctor why not order the test yourself and have the results delivered privately via e-mail?  Enter a company called 23andMe which set out to do just that. The premise was both simple and yet daunting.  Just categorize the genetic differences among us, link them to certain disease risks, and disseminate the information.  No need for doctors, or genetic counselors.  It’s your DNA after all and you should have complete access to it.

The logistics of doing this were significant.  Our DNA contains 3 billion bits of information called bases.  This instruction set for life is surprisingly identical for each of us – most of that information is mission critical and has been preserved unchanged over hundreds of millions of years – yet there is some variation that is allowed by mother nature.  On average one in a thousand or so bases can be different.  A simple calculation shows there potentially to be over a million differences among us!  Those differences help shape who we are and potentially our disease risks.
Genetic companies like 23andMe use chips that can test for an increasing number of these variations.  Like buying a camera with more and more pixels for less and less money the cost and power of the chips to analyze our genetic data has continued to fall with more and more of those million plus variants coming into focus with each new generation of chip.
How to manage and make statistical significance of all this information? 23andMe teamed up with google who provided money and use of their powerful computers to analyze the massive amounts of data.

With the falling price of chips 23andMe began offering testing for less than $100 and upped their marketing campaign for their saliva based home DNA personalized genome testing.  However, this year instead of a DNA collection kit in your Xmas stocking, as 23andMe had hoped, they instead got a bit of coal with an FDA warning now on their website which says  “At this time, we have suspended our health-related genetic tests to comply with the U.S. Food and Drug Administration’s directive to discontinue new consumer access during our regulatory review process.  In the future, you may be able to receive health-related results, dependent upon FDA marketing authorization.”

So what went wrong and why did the FDA (sometimes called the Foot Dragging Administration by its critics) step in?  Click Here for part 2.

p.s. like what you are reading?  Please share with your friends and neighbors using the links below! Want to start a new topic? Click Here

Core Physical Training Done Right:

Justin_The importance of core strength can’t be overstated. However, with soo much misinformation, fad diets and exercises out there, it can be confusing as to what core training is truly about.

The core is much more than just the abdominal or “six pack” muscles. It is actually a collection of muscles that’s main purpose is to stabilize the spine. The spine is essentially the chassis of the body. It is responsible for transmitting forces from the lower extremities and upper extremities. If there is weakness in the core musculature, compensations and movement dysfunctions and injuries can arise. Luckily, there are many ways to safely and effectively train the core, no matter what your current fitness level is.

Below is a great video featuring Professor Stuart McGill speaking about the spine, and the core musculature’s role in keeping it safe and secure.

If you have any questions about strengthening your core, or any questions regarding fitness, mobility/flexibility- please feel free to contact me at:

justinmccary@gmail.com

Hope this was beneficial. Enjoy!

- Justin

Statins And Cancer

statinsCoincident with recently released guidelines recommending increased use of statins to reduce heart attacks, stroke, and sudden death there is renewed interest in the safety of the statin class of medications.  Do they for instance increase or for that matter decrease one’s risk of cancer?  When the first statin Mevacor was released three decades ago there was concern about studies in rodents showing increased tumors.  However, as the years have gone by there have been many studies suggesting that statins actually decrease cancers such as colon and prostate.  Recently there were two studies that received news media attention that seemingly reached opposite conclusions.  One from the Fred Hutchinson Cancer Center in Seattle suggesting that women taking statins for over 10 years had a higher risk of breast cancer.   Conversely, a study by researchers at Duke using mice suggests that cholesterol may play a pivotal role in causing aggressive breast cancers and that statins might be useful in treating or preventing such cancers.  The bottom line is that cancer is complex and after thirty years of statin use in people we really don’t have an answer one way or the other.

Controversies About Statins

DrEdwadTaubmanThe recent joint recommendations of the American College of Cardiology, the NIH, and the American Heart Association has generated a number of controversies particularly about the expanded role for the statin class of medications in lowering the risk of heart attack, stroke, and sudden death.   Some of the controversies include:

  • Do statins increase one’s risk of developing diabetes? – itself a potent cardiovascular risk factor
  • Do statins help prevent cancer or just the opposite?
  • Once put on statins should the dose of the statin be adjusted up or down to reach a certain goal and what should that goal be?
  • Should women take statins?
  • By encouraging our patients to take statins do we collectively lose sight of the need to exercise and lose weight?

In regards to statins causing diabetes the joint working group reviewed a number of articles that suggested that there is some preliminary evidence that statins might for unknown reasons increase a person’s risk of developing diabetes.  So what might that risk be?  The group cited a preliminary statistic of .1 to .3 new cases of diabetes per year for every 100 people taking the medication.  The lower number was for weaker statins and the higher number for more potent ones.  So to simplify, let’s use a number of .2  If 100 people took statin for ten years then there might be 2 more cases of diabetes than might otherwise have been expected and similarly if 100 people took statins for twenty years there might be an additional 4 cases of diabetes than would otherwise have been expected.  Put another way – if twenty years ago a 50 year old was started on statins then today at age 70 by my calculation he or she might incur  a 4%  additional risk of having diabetes than would otherwise have been expected.  To keep that in perspective the CDC in its 2011 National Diabetes Fact Sheet stated that  almost 27% of Americans over the age of 65 presently have diabetes.  What is not clear is if diabetes that may develop on statins will cause the same degree of diabetic complications as non statin related diabetes.  One could argue that since statins clearly reduce cardiovascular complications in people who are already diabetics that those who develop diabetes while on statins might be expected to have less complications.  In fact the working group recommended that all diabetes be on statins, regardless of their cholesterol levels.  After reviewing all the presently available data the working group felt that at least when it comes to concerns about diabetes that the pros of statins greatly outweighed the potential cons.  Clearly the researchers will be closely watching this issue in the years to come.   What do you think?

Next week statins and cancer.