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An Attorney General, A Genetic Counselor and Gap Phase

Posted Oct 22 2008 6:18pm

post to news.thinkgene.com

Today my phone blew up. I had five different Venture Capital firms call me to pick my brain about "The New deal with Illumina" as well as "Viability of Microarrays in Pharmaceuticals"

I must say thank you to those who called. I look forward to speaking with each of your esteemed groups.

That being said......I must say that there is a general consensus of the physician side that the time for whole genome analysis for your health is not now. I agree. An excellent scientist Dr Bettinger over at theGenetic Genealogistposed a great question.

"What is your opinion on Gap Phase?....."


"that inevitably long period of time between (1) the availability of inexpensive whole-genome sequencing, and (2) the point when the medical field produces enough specialists in genetics to handle the work load."

Well....I don't think that is what gap phase is. Currently there are less than 1300 geneticists for the WHOLE country. In addition. If we expect personalized medicine to affect things like Coumadin, a drug which is dosed by adult doctors primarily, then shouldn't we have some adult geneticists? There are less than 100 of these doctors in the US. LESS THAN 100!!!!!!! Even scarier, there were less physicians sitting for the genetics boards this year than 5 years ago.


I don't think Gap phase has anything to do with these people. I think GAP phase has to do with literature and evidence based medicine. In medicine, doctors try not to do anything without good data that shows long term outcomes. When they veer from this path you get train wrecks likedrug eluting stentmishaps andVioxx!!!! Soon to beAvandia!!

So what do we do with the gap? We mind it!! We don't jump blindly without looking out for the fall that it may cause. Overselling genomics could destroy personalized medicine's promise! I will not let some overzealous "Let's do it because the technology is there, and so cool" people ruin our future. Even for a quick set of chromosomes!

As for trained professional shortage....When we have fighting between lab companies and the people who traditionally order tests, then we have a problem. Which is the case with Myriad.

There is a great NPR spot coming up. A colleague and teacher of mine Ellen Matloff. She will be on there with Attorney General Richard Blumenthal discussing the controversial Myriad advertisement campaign that is now running in CT, MA and NY. You can listen in online Sunday Evenings at 6:00 PMhttp://www.wnpr.org/

Ellen is the bane of Myriad's existence and because of this the genetic counselor is notably absent from the Myriad commercials.....hmmmmmm


She has started an onlinepetitionto start asking state's attorney generals to investigate misrepresentation in genetic testing. My genetic counselor has a wonderful take on this whole thing. BRCA testing is NOT in Gap Phase, unlike whole genome sequencing for healthcare. It has significant amounts of data and studies. It is clinically useful and can be of benefit when used properly. The problem.....The Fox is watching the Hen house. Lab reps are probably not the best people to be teaching physicians about using these tests, trained counselors and Geneticists are.


I am scared for physicians and this should serve as a warning call.


MYRIAD/23andME/Navigenics/futureunnamedbiotech are saying, " if you aren't with us, then you're against us, AND WE WILL REPLACE YOU WITH COMPUTERS!!"

The Sherpa Says: When my phone blew up today, the question was not, how can we invest in a safe product and service that will benefit people's medical care. It was..."How can we make this scalable?"......The answer does not lie in training genetics professionals....that takes at least 9 years after college. The Answer......All roads lead toGoogle.......Too bad the data is not there and computer guys haven't been burned as bad as those Vioxx doctors......




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