Gene Therapy Works and Bubble Boy Lives

• Gene Therapy works for one type of Severe Combined Immune Deficiency, made popular by the movie "Bubble Boy"
• The promise of gene therapy exists for other more common diseases such as Sickle Cell Anemia
  
• It is much harder to use gene therapy than we thought when the first articles extolling its promise were written about forty years ago.
• It will involve a lot more work and money to take this promising technology to the point of using it for more common diseases

NEJM January 29, 2009: Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency and Editorial Gene Therapy Fulfilling Its Promise

Health Experts Versus Doctors

I love reading the peer-reviewed medical literature. While others may see it as a chore or as a requirement of the job, I love learning new things and even more love the humor of it. Yes - humor. The opinion pieces that have all the answers and the "new" data that just repeats knowledge that has been known for years yet does so in a breathless fashion that makes it sound as though no one in the world had ever known it before. I love the challenge of translating the articles into English and cutting through the jargon that often obscures any real practical meaning. My own game of trying to discern the bias in the authors even when they present themselves as totally objective only adds to the fun. As I build this blog, I will be turning to the medical literature as my muse. I will read it to be inspired as much as be informed and then will share my thoughts, feelings and any other random insights that I may glean from them.

Today I am struck by two opinion pieces that were published one week apart in one of the best, most prestigious journals currently being published. That is the New England Journal of Medicine. In the January 22nd issue there is an article by Michael Sparer, a health policy professor at Columbia University and a lawyer and PhD by background in which he advocates for an expansion of Medicaid as one key part of a solution to the health care crisis. One week later, in the January 29th issue of that same journal, Jonathan Gruber, a professor of economics at MIT writes about the need to expand our public programs (i.e. Medicaid and Medicare) to improve our economy.

I see those two articles as the one two punch by two people who may be seeing clearly on one level, but I would surmise see things from a very different prospective than would a physician in practice who has to often fight for government reimbursement, which is often signficantly less than from the private market. Public payment is based on the RBRVS system which stands for the Resource Based Relative Value System. Most physicians believe that it really stands for Really Bad Reimbursement Very Slowly. While most doctors do want to see universal coverage, most would not want it based on an expansion of Medicaid and Medicare. Does the back to back publication of these two articles reveal an editorial bias? I do not know and I respect grately the thoughts and credentials of the authors. However I respect them as academic thought leaders and when I am sick, I want a doctor who is happy in what he or she does and feels fairly compsated to care for me, not an academic thought leader. Whatever solutions we develop will need to understand the realities of practice for physicians and address the need to keep them challenged, productive and satisfied with their careers.

Introduction to My Blog

When it comes to our own and our family’s health, we all tend to believe that money is no object. If you have a sick child you don’t ask the doctor for the cheap medication that will not cure the disease. If you are having severe chest pain you don’t ask the ambulance driver how much it will cost to get to the Emergency Room. Accessing medical care and improving your health is not like buying a toaster. Who can put a price on your child’s and your own lives?

At the same time, it does cost money. You pay for at least a portion of your insurance benefits with your employer often paying the majority of the cost. The portion you pay seems to get bigger and bigger every day while at the same time the amount your employer pays also grows larger and larger. After paying for those benefits, you still have to pay part of the cost of the actual care either through deductibles, co-insurance or co-payments. (In future blogs we can get into the differences between those types of payments.)

So whether we like it or not, money does matter in health. The trick is to get the best care and spend all the money needed to get that care and not a penny more. You need to work at getting the right care, at the right time, for the correct diagnosis. I will help you do that. Through this blog, I will do the same for all of you as I have done for major corporate leaders for the past ten years. I will help you make sense of the interface between your benefits, your medical care when you get sick and even your own actions in trying to prevent disease. I never claim to have all the answers but I always can find the answers I don’t know. My background as a practicing physician, as a health care executive and as an advisor to major corporations and to government gives me a unique prospective that allows me to see the medical and financial sides of these issues. Mainly however I am a father, a grandfather and a husband, and I must add a patient in my own right with a variety of the diseases those above 50 are prone to. This is what makes me see this through your eyes. I understand that coping with a disease is never cut and dry and always involves family, emotions, spirituality and even attention to the little details (How will I get home from that procedure if I can’t drive?).

So Welcome to my blog; “Thoughts on Health, Wealth and Life”. Your guide to medicine, money and the way they should work together to give you the best care money can buy.

The First Secret of Medicine

In Medicine as in life, everything old at one point in time becomes new again. This month there was a flurry of interest in an study from the Journal of Family Practice in December 2008 that reported that up to one third of people who need colonoscopy (and we all need colonoscopy or an alternative at some point to screen for colon cancer) can have it done wide awake with no sedation if given the choice. Now I know that most of you, just hearing about this and visualizing a long tube being pushed up your rectum would question the sanity of anyone choosing to have the test done while awake and alert. However, as a former gastroenterologist, and someone who, twenty years ago using equipment that is not as good as the equipment today, did about half of all my colonoscopies with no anesthesia, I sit back with smug self satisfaction as I look at these reports.

Colonoscopy is a medical procedure where a long, flexible, tubular instrument called the colonoscope is used to view the entire inner lining of the colon (large intestine) and the rectum. It can be uncomfortable and in the United States is usually done with some type of anesthesia. In recent years the anesthesia for the test has become more sophisticated and has thus required the involvement of an anesthesiologist or a nurse anesthetist. Of course, whenever I say “sophisticated” in the course of this blog my reading audience can substitute the word “expensive” as we do pay for that sophistication. It turns out that around the world the standard way to do this test is without anesthesia and it is only in the United States that most experts who do this procedure use anesthesia routinely.

Whenever I have been on the receiving end of the colonoscope and had this test done I have always had it performed with no anesthesia. I know that having the test done without any medication to dull my senses makes the test safer as well as less expensive. While safe, the test does have rare complications. The most common is perforation of the bowel which is puncturing the wall of the colon or rectum. In American Medical News, in their report on the study about colonoscopy done on a person who is awake, Ricardo Hahn, M.D. of the University of Southern California was quoted as saying “You cannot perforate the bowel of an awake patient. They will get off the table and smack you.” This may also be a reason that many physicians in this country want to sedate patients. They don’t want to be smacked! If you stay awake for the procedure, it also makes the logistics of having it done much easier. You don’t need anyone to drive you home as you are able to drive yourself home. You can also discuss what the doctor is seeing and doing during and immediately after the exam and remember what is said to you.

One of the secrets of medicine is that doctors are people. They make mistakes and they are not all above average. There are many who are excellent but they may have not slept well the night before your procedure, they may have a mild illness of their own or they may just be unlucky that day. The doctor may be excellent at the procedure and not as good at communicating the results. I want to be awake to watch them, to talk to them and to interact with them in a way that will make the procedure being done on me the safest and most effective it can be. I say all this even though I have great faith in my doctors. While I know that there are many procedures that require sedation, colonoscopy is not one of them so I welcome this new, old trend. If you have it done this way, make sure that the bill that is generated reflects the fact that you didn’t receive the drugs and that you didn’t have the services of an anesthesiologist. While not always the case, in this instance cheaper can be safer and better even if more uncomfortable.