Wednesday, May 26, 2010
Monday, May 24, 2010
I just received the May issue of Genetics in Medicine, only 24 days late. But it caught my attention for several reasons.
Posted by Steve Murphy MD at 5:11 AM
Saturday, May 22, 2010
I think everyone in this space has been way off base as to what the problem is with FDA and Congress wanting to investigate the DTC Genomics companies.
The whole mindset is wrong.
What I hear from this debate is "It's my data, mine, mine, mine. Gimmee, Gimmee, you can't keep me from my data Big Brother!"
From Mr Goetz's Blog
"The controversy seems to have stirred the FDA to assert its authority – and that of physicians – over any and all medical metrics."
"To me, getting access to this information is a civil rights issue. It’s our data."
This is a straw man argument that has been set up to make regulating these companies seem unseemly and an invasion of privacy.
IT IS A DEAD WRONG ARGUMENT and I will not stand for it being perpetuated anymore.
This is not about getting access to your data.
Fine, you want a whole genome, go get it!
The FDA is not asking should people be able to go out and buy this. It is asking several other questions.
1. Is Interpretation of biometric data considered medicine?
The answer here is certainly confusing. I think it rests solely with intent.
Do you intend to tell someone something about a disease they now have based on this biometric data that you analyzed?
If the answer is yes, that is viewed legally and medically as a diagnosis.
Which ultimately I think is medicine and falls under medical regulations.
2. Is DTCG analyzing biometric data and intending to give an interpretation of that data which indicates a disease a person has?
It depends on what you define disease as.
Most legal experts defer to the International Classification of Diseases
3. Should we regulate a system which has not given indication of their quality control if they are indeed intending to provide medical diagnosis?
4. Are these methods of obtaining human samples to derive biometric data for the intent of analyzing and providing information about disease considered medical devices?
This is precisely the argument and precisely what Congress and the FDA are trying to define.
So stop acting like a bunch of little kids running around because someone took your kool aid away!
If I hear another, "It's my data" whine again I will scream.
This is not about restricting access to biometric data.
Which by the way, some states do already.
Is an EKG biometric data? What about a cholesterol?
Probably, no one is stopping you from going out and buying a machine to obtain this data yourself.
But any doctor will tell you, it is the interpretation that can vary widely. As demonstrated by the multiple interpretations that Venter et.al complained about
What they are intending to do is to prevent a third party from having NO ONE to answer to when providing interpretation of that very SAME biometric data.
The Sherpa Says: Regulation here will most definitely not stifle innovation as bad as a consumer death or class action lawsuit or lack of trust from consumers because of the aforementioned.
Thursday, May 20, 2010
Ok, so you've been summoned to Congress to testify
Wednesday, May 19, 2010
I admire UC Berkeley for pushing the envelope. They have been doing it for decades. Encouraging risk taking, and defying stereotypes
Monday, May 17, 2010
I was reading and often read Mark Henderson of the Times
Tuesday, May 11, 2010
Dan Vorhaus recently had a great post about the FDA coming in to carpet bomb DTC now OTCGenomics.
But what I am pissed off about is everyone using the term gatekeeper connoting a doctor required to do something.
What the FCUK do you think I am? A gatekeeper is a lot like a door man.
I don't get your bags.
I don't just open the door for you.
I am not profiting from the test that is ordered.
I am saving your f'ing life.
Stop calling me GateKeeper and call me what I am.
Doctor. Sworn to save your life.
Posted by Steve Murphy MD at 5:41 PM
"Clinical Assessment Incorporating A Personal Genome"
The clinical assessment was incomplete.
It was missing the following items
1. A Physical Exam
2. A Complete Pedigree with ethnicity
3. Appropriate Clinical Laboratory testing
4. A Full Social History
Adjusted for curve a good solid B minus
Monday, May 10, 2010
With all due respect to the scientists involved in analyzing Stephen Quake's genome in clinical context.
You did a major league $h!tty job.
I can only assume this based on what you reported in the lancet paper.
Start by asking yourself.
"Is Stephen healthier because of what that genome and clinical assessment added to his care?"
I am speaking precisely on this topic at the Consumer Genomics Conference on June 3rd at 830 AM. So I will hold off on all my arguments....But,
The Paper even says
"We noted that most of the sequence information is difficult to interpret, and discussed error rates"
Ummm, ok. Nice counseling session.
"patients with whole genome sequence data need information about more diseases with a wide clinical range"
Perhaps that person could actually be a physician, maybe a generalist?
"For this we offered extended access to clinical geneticists, genetic counsellors and clinical lab directors"
Nice! Joubert's is not Gilbert's is not Plavix. Thanks for stopping by.
I did appreciate that your paper calculated pretest probabilities. Unfortunately these were based on a pedigree which had no ethnicity and incomplete clinical data.
1. No Glycohemoglobin to evaluate for diabetes risk or maybe even diagnose it
2. No Iron Studies to evaluate for Hemochromatosis, yet you state genes may set him up for it.
3. No documentation of a physical exam including DRE for prostate hypertrophy/cancer or PSA
4. No dietary history? No Smoking history? No social history?
Shall I go on?
You show increased risk for Diabetes post test as well as prostate cancer, obesity, CAD, MI, Asthma, NHL, RA (no ESR/CRP/CCP?)
You projected an increased risk for 7 and decreased for 8. Yet no Assessment of MCI etc in Alzhemiers disease? My god, you did a stress test in an asymptomatic patient who exercises daily.
"Although the methods we used are nascent, the results provide proof of principle that clinically meaningful information can be derived about disease and response to drugs in patients with whole genome sequence data"
Translated: We made up a system and used novel DNA results to hypothesize about disease risk using research fellows, computer programs an excellent cardiologist (Not a GP) and an Echo machine.......But we skimped on the physical exam, use of primary care doctors, complete blood counts and other clinically useful testing and procedures.
I admire your efforts, but
A. You have missed the boat in using not all the tools at hand
B. By being Genome-centric, we miss the clinical picture.
"Although no methods exist for statistical integration of such conditionally dependent risks, interpretation in the context of the causal circuit diagram allows assessment of the combined effect of environmental and genetic risk for EVERY individual"
Translation: Nothing exists statistically to evaluate disease interaction and how it may increase risks of interlinked disease.
Ask yourself, "What have we done to make Stephen Quake healthier from this test?". Other than hype the use of a genome clinically?
This paper was all genome and NO CLINICAL ASSESSMENT!
The Sherpa Says: The only thing of note that is important here is the CYP2C19 data.......
I have seen abnormal CGH data in a child with severe developmental delay come directly from a high functioning mother who was a power litigator. The genome scan as it stands now is noise. It also requires a full team a month to intepret. Clearly not ready for medical prevention or prognostication, sorry.
Thursday, May 6, 2010
This evening I want to write about something amazing I recently was able to participate in. It was the first meeting of the Pharmacogenomics Advisory Group. This group, chaired by Issam Zineh is pretty amazing. Let me tell you why.
1. Members of PAG have been involved in pharmacogenomic studies involving most if not all current markers
2. They include members/contributors of PharmGKB, FDA, AAPS award winners, Howard MacLeod, I could go on and on.....and one lowly blogger and clinical personalized medicine specialist.....
3. The group was willing to engage in active criticism of each other and of ideas. That is the key to a great advisory group.
While we see the dropping costs of genotyping going further and further with some quoting a 10k genome by June's end, it is becoming crystal clear that the test is not the product. The test is a razor handle. Seriously. It will be given away free. But the question is, what will we do with it.
Coriell is aiming to answer some of these questions and is engaging in ethical research. Coriell is the cohort study that we will turn as we turn to Framingham. When the next decade closes we will sit back and laugh at how all of the VCs dumped money into supposed 1000 gene tests that gave nearly useless results or results that couldn't be used for what they needed to be used for by Terms of Service......
At the same time, we will see how a sleepy little institution in Camden NJ, known for holding cells became a powerhouse in the Personalized Medicine Movement by holding patient lives and medical data......with a little help from their friends........
The Sherpa Says: If you haven't joined the CPMC, you should. They are climbing the mountain skillfully
Posted by Steve Murphy MD at 6:30 PM