Sunday, October 14, 2007


I am sitting here listening to "Genetic Screening. What the PMD needs to Know" It is a presentation given by Monica Giovanni. Monica is a genetic counselor who works at Harvard. She is helping Dr Mike Murray build an "Adult Genetics" clinic. They have recently applied for governmental funding to set up a pharmacogenetics clinic.

I am prepping for my talk that I will be presenting at noon. The conference is called The Genetic Basis of Adult Disease. It is a CME course at Harvard and I am excited to see that we have about 140 physicians sitting in this ballroom. There are physicians from as far away as China and as near as Boston. I hope that they will take away one message......It is time to learn genetics.

What is my talk on? Adult Cystic Fibrosis. I know, you may be saying "Why not personalized medicine?" Well if you think about it. Adult CF is personalized genetics, so we are getting there. I like to bring physicians minds around by stretching them. A 74 year old woman with Cystic Fibrosis definitely stretches the mind. Oliver Wendel Holmes once said "Man's mind, once stretched by a new idea, never regains its original dimensions. " I hope to do that today.

What else is going on in the blogosphere as I "real-time blog"?

Walter has put up the Medicine 2.0 conference at Highlight Health. I must say that we ARE building the new EMR, it is not built yet....It is a work in progress.
The Sherpa Says: This weekend conference has started to prepare physicians for direct to consumer genetic testing. The president of the ACMG illustrated why the college feels that it is dangerous. Physicians here have started to view DTC genetic testing in the same light as "Coral Calcium"


Brian Meshkin said...

Steve - I hope your presentation went well. Dr. Kenneth Blum, our Chief Scientific Officer, and I attended the 2nd Annual Bruce Ames Symposium on Nutritional Genomics this weekend and presented further data from a 3-month prospective study supporting clinical outcomes from one of our products. We had physicians and researchers from University of California at Davis (a NIH Center of Excellene in Nutritional Genomics) which is primarily DTC gene testing, Harvard University, UCSF, the American Dietetic Association and many other leading institutions in attendance. All were very supportive and we gained further involvement from physicians, researchers, and dieticians in our efforts to bring certain nutrigenomic technologies into the clinic, as well as direct to consumer. As a physician, I know you have a bias against DTC, as have most of the medical community against DTC Rx advertising. Sadly, I think the medical community may sometimes even hubristically not want the pharmacist involved. The facts are, except for medical geneticists, physicians are not required to take genetics and after having built a pharmacogenetics product that 79% of gastroenterologists in the U.S. now use, I can testify that many of them struggled with the difference between heterozygous and heterogeneous. So, knowing that it always takes time for "an old dog to learn new tricks", it is reality to except that as these new technologies emerge, there will be a different more integrative concept of care, such as the pharmacy-directed pharmacogenetic technologies employed at St. Jude's Children's Research Center or integrative approaches that we use at Salugen involving physicians, pharmacists, dieticians, medical geneticists, insurance company case managers, local community lab draw sites, and our corporate support team. As I said before, I would hesitate to rush to judgement on any new innovation as they always take time to work themselves out. And DTC gene testing is necessary to bring many of these technologies to market as physicians are not equipt to understand most of it and since they are traditionally not part of the reimbursement model, generally require the consumer/patient to pay for them almost completely out of pocket.


Anonymous said...

Is there a way to get any handouts from the Harvard Conference? I would love to get any handouts that were provided.

Steve Murphy MD said...

To anonymous: If I knew who you were, then I could send you my handouts.

To Brian: I am glad that research is being presented. I do believe that nutrigenomics will be the wave of the future and help treat diseases. I just think we need the data first. I must respectfully disagree with the need to have DTC disease testing out there....for family history, paternity, banking is one thing. For medicine..... I think we should not treat ourselves. You did hear the one about the doctor who treats himself right? It turns out that the doctor now has a fool for a patient...