Personalized Medicine....What about Prevention?

A recent study published and talked about everywhere around the web indicates that our lifestyle matters. If we would just follow these five things, we would save thousands of lives.......How will we carry out personalized medicine if we cannot follow simple preventative measures.

Here's what the Partnership for Prevention Suggests:

The biggest impact would be saving 45,000 lives by encouraging more adults to take a daily low dose of aspirin to prevent heart disease, said the report which was sponsored by the US Centers for Disease Control and Prevention, the Robert Wood Johnson Foundation and the WellPoint Foundation.......
Other measures that would save tens of thousands more American lives every year include more adults getting flu shots

• 45,000 lives saved from more adults taking a daily low dose of aspirin (current take up rate is below 50 per cent).
  
• 42,000 more lives saved by offering smokers professional help to quit, including medication (current level is below 28 per cent).
  
• 14,000 more lives saved by more adults having regular screening (current level is below 50 per cent).
  
• 12,000 more lives saved by more adults aged 50 or over having an annual flu shot (current level is below 37 per cent).
  
• Nearly 4,000 more lives saved by increasing the number of women aged 40 or over who have been screened for breast cancer in the last two years (current level is 67 per cent).

What about the potential for genetics to promote public health? Well, Wylie Burke is a little less optimistic than myself.

The Sherpa Says: What would you do if you knew you were at risk? Would you get the flu shot? What about frequent cancer screening? Taking an aspirin? Or even quitting smoking? I hope with the right Sherpa, you would.....

Personalized Medicine since 1986???

First I would like to apologize for the lack of postings on interesting topics lately. I am glad that others have picked up my slack. Notably Hsien and Bertalan's interesting posts this week. Or for an in depth post on the politics of health care and the reform movement check out VentureBeat

What I want to pay attention to today is the question I inevitably get asked when I speak to other physicians. "Is what you say feasible in a 7 minute consult world?" The answer is inevitably NO. I do not feel in my heart of hearts that we will ever be able to practice personalized medicine in a 7 minute consult world.

What's needed is a Revolution. We need a place where the patient has access to their records and their physicians 24/7. We need a place where the patient is given the skills to understand and manage their disease. My friend's 12 year old son can quite effectively manage his diabetes, how come a 45 year old venture capitalist cannot? Support is the key and learning is the motion required to open the lock. How do we make these things easier? How can we get doctors to teach their patients? What ever happened to true continuity of care? These are big questions that need answers. I don't have them all. But I am working with some great people who will find those answers.....

So the next question is "How can we have the knowledge to practice these things?" I often tell physicians to go back to college or read a book on genetics. If you don't have the time to do that, then you will fail your patients. This often meets an uproar of disbelief......I am pretty good at pissing people off. Just ask Lisa Lee at DNADirect ;)

In all honesty, we need some clinics who offer personalized medicine consultations. These specialists need to guide care in collaboration with PMDs. I am building this model in NYC! We will be seeing patients in July. Give me a call and we can arrange to start the relationship.

But there has been someone doing this since 1986!!!! Wha??? The HGP was only 3 years in and they were providing these services. Yes that is correct. Greats such as David Rimoin and Maren Scheuner helped form and develop this practice. It goes by the "trademarked" name GenRISK Adult Genetics Program. It has been in practice since 1986 offering several tests that you can see on their site. I have been critical of predisposition tests unless clinically indicated. This is an example of how a personalized medicine practice can be run.

The Sherpa Says: Genomic and Personalized Medicine need to be given in a continuity of care. Family history changes, medical history changes. A one time consultation cannot deliver that kind of service. Oh and what about pharmacogenomics?

Great Blog, Great Man

On occasion I like to make note of some person, event or thing that contributes to the future of health care and ultimately personalized medicine. One of these people is Bertalan Meskó.

He is a medical student at the University of Debrecen, Hungary (4th year of the 6). He has set up an amazing blog at Scienceroll whose aim is to make medicine, genetics more readable even for those who are not too interested in these.

If he were just to do that it would be a great thing. However, the soon to be Dr M is planning to help deliver the tools of Web 2.0 directly to physicians as he has to myself. He describes this synergy as Medicine 2.0. I currently am pointing all of my medical students and residents directly to his blog. I highly recommend it.

He has been interviewed several times and presents some great material.

I for one am extremely thankful to have a person willing to translate the technology of today allowing all of us to create the medicine of tomorrow.

Thanks Berci, I look forward to your exciting news.

Kidney Disease and your Child

This week in the official Journal of the American Academy of Pediatrics a study reveals that at least 2/3rds of nephrotic syndrome in the first year of life is caused by mutations in 4 genes. Those genes are NPHS1, NPHS2, WT1, LAMB2.
What does this mean for The Gene Sherpa? Well, incidentally it was found that these types of nephrotic syndrome are not responsive to steroids (No not the Barry Bonds type!). These medications are really strong types of anti-inflammatory. This is an example of personalized medicine! What would the non-savvy pediatrician do? Treat all nephrotic syndrome with steroids. Why? Because that is what she/he is taught. Unless you followed this literature you would be practicing trial and error medicine!