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?

Watson, Francis.....and The SHERPA!!!!!

Remember how I said that June is going to be one heck of a ride? Well, what a way to kick it off. Yesterday I attended the "Personalized Medicine Revolution" at Brown University. My team drove 3 hours from NYC to Rhode Island to attend and trust me....It was worth it. I want to recap in some coherent and readable fashion so I will break it into 3 posts throughout the day.

Post 1 The Welcoming Remarks by Dean of Brown Medical School Eli Adashi and Rep. Patrick Kennedy.

I find it interesting that the introductory remarks are given by an REI specialist. Especially after what was disclosed to me.

"Future Pundit talks about the role of Preimplantation Genetic Diagnosis and its ever expanding uses. The specter of looks and intelligence for PGD rears its ugly head. Do I think this is a slippery slope, you bet. Especially when at the REI conference this April there were comments such as "We are the new geneticists" and "We determine mankind's fate" were heard by my Specialist friend. Yikes here comes Aldous........"

In addition, the lack of REI oversight in this country was addressed by Dr Thomas Murray PhD CEO of the Hastings Center . But I will save that for a later post. Dr Adashi did make a funny though. He showed a slide of Jim Watson receiving a copy of his genome on CD from Jonathan Rothberg. Dr Adashi said "I am happy to say I just received my copy from Netflix!" to the laughter of the crowd. Lastly he closed with a comparison many of us make. "Just like the microbiology revolution...........Genome based medicine is inevitable and It's here today."

Still, the welcome was warm and the stage was set for an exciting day of "Personalized Medicine!"

The next comments came from the sponsor of the conference, US Representative Patrick Kennedy. First I would like to say I have no political attachment to either party so what follows is merely my observations as a citizen of the United States.

At first it was difficult to understand his accent. Second it was tough to listen to his ummmms and uhhhhs. Thirdly he had a tendency to say "you know". But once I got past the "nerves/Billy Madison-isms" what he had to say was pretty amazing. Representative Kennedy is a huge ally in the fight for the right drug, for the right person, at the right dose. He went on to detail how proud of Rhode Island he was, he talked about his mental health initiatives and how personalized medicine will help those with mental illness. Frankly, I was very impressed with what support and knowledge came from his mouth.

Next post............Francis Collins and "Reports from the Front Lines of the Revolution!!!"

The Sherpa Says: Viva La Revolucion!

The Genomic Revolution AKA the birth of Personalized Medicine

An intriguing second post at the "official blog" for direct to consumer testing company DNA Direct brings some excellent points up.

These are points that I often use when trying to tell physicians what will happen if they don't learn genetics.

It often scares the hell outta 'em, or they say "nah no way, medicine is too complicated for the public to practice." Then they go back to practicing medicine the same way we have for the last century, microscopes, gram stains, and paper charts.

The problem has been festering away and the geneticists, internists and specialists have been asleep at the switch. A Summit was held on the subject Bruce Korf, president-elect of the American College of Medical Genetics realizes this. In fact he has been preaching about it for the last 6 years. You can read about it here, here and here.

Some questions

• Who prescribes your blood pressure meds? Your Internists/Family Practitioner


• Who refers you to specialists? Your Internists/Family Practitioner


• Who encourages you to quit smoking? Your Internists/Family Practitioner


• Who argues with insurance to get paid? Your Internists/Family Practitioner


• Who doesn't have the time to see you let alone continue their medical education? Your Internists/Family Practitioner

I am collaborating with Dr Korf as well as leaders in Genetics and Internal Medicine at Yale, Mount Sinai and Harvard to develop a curriculum for residents. The problems

1. Getting the residents to attend conferences on topics the perceive are of no use to them. (why is this? The reason: their instructors can't speak genetics let alone teach it)


2. Finding physicians who speak genetics and can teach genetics. (There are 83 Geneticists who have certification in Internal Medicine)


3. Getting Residents to understand Genetics (Most don't know introns aren't junk)

The solutions? Are tough. I think we need to teach the teachers, we also need to teach the medical students. Physicians have not changed our level of genetics understanding in the last 30 years. That's why they all think Huntington's is the prototypical genetic disease. When I tell them that MI is the new prototypical genetic disease they laugh. How can we fix these attitudes?

Even psychiatrists agree that genetics is important but they realize the lack of knowledge they have.

Whether it is your OB/Gyn missing indications for referrals 9 out of 10 times or 1 in 3 Internists who misinterprets a genetic test for APC. My oncology friends still don't understand mitochondrial inheritance.

Could the lay person do better? Maybe...But could they write a prescription for the Cox-2 Inhibitor they now should be taking? Who will send them to the surgeon? Who will admit you to the hospital? Who will read and review all the articles needed for your care? Who will?

The solution lies in your hands. The solution is to encourage your doctor to learn genetics. Ask him about DNA and your health, ask her about your drugs and your genes. Force the issue, read as much as you can. When your doctor refuses, leave her care. Find a doctor who will learn. But please, please, please don't leave it up to yourself.

The Gene Sherpa says: The solution is up to you. It is up to your doctor. It is up to all of us, together learning and teaching each other. To get the best health care possible. Delivered by a licensed health professional, not by Domino's..........Wake up people or Wal-Mart is where you will get your genomic revolution!!!

Revolution Health

I would like to invite everyone to Revolution Health. This web site is poised to bring the old guard like WebMD down. Why is revolution health an excellent resource? Because they are dedicated to personalized medicine that involves the patient AND the doctor. In addition they are driven to the power of Web 2.0 networking. Come see me there username SteveMurphyMD