Tuesday, December 16, 2008

Raiding the medical commons!!!! A pirate's life for me.


I just got back from Disney World the other day.....What a great trip.....my take is that if you keep believing and work hard enough your dream will come true....or at least Disney wants you to think that's true.....But I have a little problem......how can anyone believe without some evidence?....You can, but then it is not belief, it then becomes faith. Faith is belief with the absence of proof.....


Unfortunately, that is how alot of blind individuals see personalized medicine....Too bad they are dead wrong. There is proof. For Pharmacogenomics all one has to do is scan the pharmacology literature.....but that's tough for scientists to do, even tougher for doctors, and toughest for genetic counselors...but it exists.....just take a look at the nearly 4000 papers published on CYP 2D6....


Unfortunately, Time did not name Pharmacogenomic testing, invention of the year. Instead they chose Personal Genome Scans.......While a unique technology (sort of) this type of testing requires further study. Several colleauges will be speaking at a conference of heavy hitters in the space. The conference sponsored by the CDC and NIH will examine the role of these scans....They need to especially as Muin Khoury noted that only 3% of all genomic studies addressed questions related to clinical integration or outcomes....Scary Statistic for sure, but how can we expect lab physicians and scientists to understand clinical intergration?


This 2-day workshop, cosponsored by CDC and NIH, will explore the type of scientific foundation that is crucially needed to make the promise of personal genomics a reality. The workshop participants will explore how the integration of genomics into personalized health can follow an evidence-based process. The process for using genomic applications in personalized healthcare (e.g. pharmacogenomics, early detection markers, testing in clinical trials) is being discussed.

It starts on December 17th and ends on the 18th.

I have sent some speakers case presentations that we have experienced evaluating these scans. All confidential mind you, but some are pretty interesting.....

Most of the people at this meeting agree that the role of genome scans and primary healthcare remains in the realm of the primary care physician. But we all know the limitations they have.

1. Education on genetics and genomics

2. Limited Time Schedules

3. Ability to order and get these tests and their care paid for.

4. Lack of clear studies demonstrating clinical utility

Dr Wylie Burke writes in JAMA last week about this topic "An Unwelcome Side Effect of Direct-to-Consumer Personal Genome Testing: Raiding the Medical Commons" In it she posits that the incidentalome that is unleashed will waste healthcare dollars in investigations that are unwarranted, based on meager risk estimates...She may be right. She may also be wrong....But there is only one way to know this.....we have to study how genetic information such as genome scans is used in the clinic.....

Helix Health of Connecticut is in prime position to do just that. Starting at the end of this month we will....I can't tell you how now....but it will change the way genetic research is done. It is time to move out of academia and into the field....That's where we are headed. Armed with a physician a counselor and the internet! Together, not exclusive of each other.....


The Sherpa Says: I am back with a vengeance! I am about to blow the doors off of this Genome Scan land.....With the help of some other Sherpas! Oh did I forget to mention that we are all connected now???? For me, I do believe it will come true.


3 comments:

Anonymous said...

Should there be a link in the red section of your post?

Anonymous said...

I think we have enough shit with DTC companies like 23andme and Navigenics. Are you going to create another bogus DTC company?

Steve Murphy MD said...

@ anonymous,
I am not going to create a DTC company.....Why would anyone do that????