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Category Archives: Genetic Medicine
The Australian Research Collaboration Service (ARCS) http://www.arcs.org.au has launched its Computer Cloud scheme, a $22 million project funded by the government’s National Collaborative Research Infrastructure Strategy.
More details check http://www.arcs.org.au/index.php/services/cloud-computing
Bob Correll, the chief information officer for the Department of Immigration and Citizenship, said his agency is also looking into using cloud computing for its electronic visa system
Great clinical question-Did the PMs (poor metabolizers) on Prasugrel fare better than the PMs on Plavix.
The obvious answer:
Duh, of course yes.
But Always we need some science and statistics here.
Individuals with a CYP2C19 reduced-metabolizer genotype were estimated to have a substantial reduction in the risk of the composite primary outcome (cardiovascular death, myocardial infarction or stroke) with prasugrel compared to clopidogrel (relative risk 0.57; 95% confidence interval [CI], 0.39 to 0.83).
Ok, so we should screen for PMs? Probably.
What about every other result?
What about the EMs?
For CYP2C19 extensive-metabolizers (EM) ( approximately 70% of the population), however, the composite outcome risks with prasugrel and clopidogrel were not substantially different (relative risk 0.98; 95% CI, 0.80 to 1.20).
The Sherpa Says: We should AT LEAST be identifying the PMs and placing them on Prasugrel. This subgroup analysis shows increased risk while on Plavix. Primum Non Nocere.
GlaxoSmithKline has teamed up with MedTrust Online, provider of specialist data and technology to oncologists, to launch CancerTrialsApp, described as “the first free geo locating cancer clinical trials application” for the Apple iPhone and iPad.
The application enables cancer doctors to find and share with their patients information about experimental therapies in clinical trials
Yes. Would it be useful?
I need to save my rants, and any doctor will tell you, labs screw up all the time.
It is something we are used to thinking.
So much so, that a knee jerk answer for a lot of doctors is to repeat a test if the results are so far out there.......
So, my rant today will be directly placed at the rocket scientists who dreamed up CelluliteDX
"The CelluliteDX Genetic Test is only available for sale through participating physicians' offices. If you would like to learn more about the CelluliteDX Genetic Test and receive a Welcome Package to establish your office as a CelluliteDX Genetic Test provider, please contact us Monday through Friday between 8 a.m. and 5 p.m. Pacific Standard Time or e-mail anytime"
Ok, this is the problem that the DTCG community has and I do too.
Doctors may be using crappy tests as a marketing ploy to drive patients through the door. Well, some DTCG does market crappy tests to drive customers through their portal too. But this one takes the freaking cake.....today
This test which BTW is the ACE genetic variant testing has a full page called "Science" where you can read about this brain trust.
200 patients, 200 controls, the offering......
"A physician using the CelluliteDX Genetic Test for Moderate to Severe Cellulite, can predict that a patient who tests positive has approximately a 70% chance of developing Nurnberger-Muller grade 2 (or greater) cellulite."
The science: Is there a paper on this? Seriously? A gene for cottage cheese butt? Awesome! You've gotta love Italians and there passion for the A$$
"the multivariable-adjusted odds ratios for cellulite were 1.19 (95% CI: 1.10-1.51; P 1.19 huh?
How is that 70% increased risk? Would love to see that please. No, seriously, tell me how. This is why Congress jumped. What Doctor in their right mind would offer this test?
The Sherpa Says: This is why we need education of physicians and the public here. Hullo? FDA, maybe they should get a letter too?
In a blatantly obvious, why the hell werent they doing that in the first place? move.
23andSerge acknolwedges, finally, that they ARE Providing clinically important work. Duh,
Since the website won't let me copy the presser, I will quote, with my own translation through business BS speak.
"23andMe customers now have the option to speak with a board certified genetic counselor"
-Translation, we realized that by testing BRCA mutations we put people at risk and needed some back up from someone who knows what the FCUK they are doing opposed to a VC billionaire babe and ruby on rails programmer kids.
-Because, frankly, we don't want to get sued or go to jail......Like Liz Dragon......
"We chose Informed because they were the leading independent genetic counseling provider"
-Translation, we alienated/pissed off the entire rest of the FCUKING community by saying they were stupid. Thus these were the only guys who would work with a company getting ready to be pilloried by Congress
IMHO, Informed are a great service, we are modeling genetichub after them, but... No one else would work with them on this. NO ONE, or so I am told......
"We wanted to be sure that the information our customers receive would be completely objective"
-Translation: We didn't want to have egg on our face when the geneticists said, "Well Andre, that finding essentially means nothing to your long term health and happiness"
"Customers who want a more thorough review of their family and medical histories can chose the Comprehensive Clinical Genetic Counseling"
-Translation: Yes we know we have been pushing this "It's not clinical" thing, but let's face it, no one is buying it. So we said Clinical, yes we did. See Henry, we are trying Congressman. See. Please no pre-market review.
The Sherpa Says: Well 23andMe, I am proud you came around. Too bad it only took an FDA review and being called to testify before congress before you "acted" in the best interests of your customers. 3 years later and I can say it. I told you so......
Why did no one post on the Viewpoint put out in The Lancet exactly 5 days after my review?
What did my review say? You can read my analysis of the Quake Paper here.
I will keep this brief, as I will be speaking precisely on this topic on Thursday at the Consumer Genomics Conference.
Maybe no one read the viewpoint?
Today I was able to read the
It echoes every single thing I have been saying for the last 2 years. Not that any of this is news for those of us in "the know" But it is confirmation that people who include a DIRECT Advisor to 23andMe agree with my stance.
However, there are some things in the paper that I disagree with.
1. "The author assumes that because of the rapidity of cost decline with WGS (whole genome sequencing), that it will be used more and more in Medicine."
Payors, Clinical validity and Exposure to malpractice risk will determine the uptake in the clinic
2. "Reduced sequencing costs seem likely to cause a rise in WGS"
Perhaps in research this will be the case, but for customers, who are now staring down the barrel of an FDA investigation, House of Reps investigation, they may think twice. No matter what Oprah has to say.
3. "even if that information averaged only 3 min per disorder, this process would take more than 5 hours of direct patient contact, after many hours of background research"
The average time per disorder would be at least twice that, meaning ten hours of direct patient care. Which on my clock is about 4000 USD, at least.
4. "As academics, we often assume that information is good and more information is better. but more information can sometimes be counterproductive"
I agree whole heartedly.
I know many excellent academicians who say "Garbage in, Garbage out" or "Information is just that, but Noise is Garbage"
The Sherpa Says: We need to bite things off a piece at a time. That is the problem with whole genomes. People will need to be revealed information in a staged fashion WITH SKILLED CLINICIANS. Nice to see Russ B Altman MD et.al., advisor to 23andMe agree with what I have been saying over the last 3 years now.