In what turns out to be a brilliant decision on part of the CDC, they have created this network of collaborators called GAPPNet.
Which stands for Genomics Applications in Practice and Prevention Network..... I think I had mentioned the great work of the CDC on this for quite some time.
I first noticed their work while trolling through webcasts of the SACGHS meetings. The first which caught my eye was when Dr. Muin Khoury breifed the committee on the public health initiatives in this space.
This was back in 2005 when we were trying to think about how best to expand access to genetic testing. My partner and I at the time were wet behind the ears in this space, in fact our initial feelings were very similar to Anne Wojcicki and Linda Avey......until we began to ask for advice and watch these meetings......
That's when I became convinced that the best way to bring this to the masses was not through some disruptive Web App selling genetic tests without any care for regulation.......it was through tested and proven methods which were not being used, as well as through deliberation on which genomic applications needed further study and which were ready from prime time..... Which is why I am so excited to let you know that I have been invited to the GAPPNet meeting in October!!!
You can read a little bit more about GAPPNet in this article, or you can browse the website.
GAPPNet will be comprised of stakeholders, which include researchers, practitioners, policy makers, educators, and representatives from academia, government, health care, public health, industry, and community and consumer groups. Over the next 2 years, CDC and NIH will convene GAPPNet stakeholders to provide greater support for the following functions:
- knowledge synthesis and dissemination
- evidence-based recommendation development and dissemination
- translation research, and
- translation programs.
We have developed an educational curriculum for residents in Internal Medicine. I have been serving the on ICOB of Coriell's Personalized Medicine Collaborative, evaluating the science of each GWAS study. Helix Health of Connecticut is also involved in the CPMC.
We also are actively looking for great research to involve our patients.......research that is ethically conducted and involves institutional review boards.....
So a lot has changed since 2005 when we wanted to "Democratize Genetics"......... I am certainly glad we will have GAPPNet to help guide the way on these things........
Lastly, I want to point out an article in the ACP Internist. On the front cover was an article about, you guessed it.......DTC genomics scans......Titled "A Brave New World of consumer gene tests" The article misses the point and lets Dr. Topol, an adviser for one of the DTC companies issue talking points........ It does point out Navi's early gaffes, but it then downplays 23andSergey
"23andMe is the cheapest test at $399, and includes more of what Dr. Topol calls “recreational information,” such as whether one is disposed to have hard or soft ear wax. All told, it gives feedback on a whopping 114 traits and diseases.
“23andMe is a little more for fun. It does include some serious medical conditions, but the proof or evidence doesn’t appear to be quite as rigorous,” Dr. Topol said. “It makes for good cocktail party chatter.”
23andSergey is for fun????? WTF? Did you forget that they are testing pharmacogenomics and BRCA variants Dr. Topol? Hardly Party Chatter.....
"Yeah, so I have this deleterious mutation which increases my risk of ovarian cancer 16 fold......could you pass those little cocktail weenies please???"
Jessica Berthold's editor should have picked that one up? Even in the clinical medicine media we get this parroting of 23andSergey's talking points. What in the hell is going on here?
Thank God they asked Greg Feero a question or 2 on this.....Otherwise, this could have been a love fest!
I repeat, 23andMx AKA 23andSergey are testing for variants in the BRCA genes and also pharmacogenomics......2 things which aren't EVER "Just for Fun"!!!!
Hopefully, EGAPP and GAPPNet can clear up that little confusion.......
The Sherpa Says: "The greatest thing the devil did was convince the world he didn't exist!"