I recently read a Times blog post by Mark Henderson because it was referenced by Dan Vorhaus on Twitter. I have to say, I am blown away by the cognitive dissonance here......
entitled " The end of deCODE genetics: are you worried about who holds your DNA?" I was interested in to see whether this was a slash job on deCode or not.....
"Does this worry me? Not really. First of all, as Dr Stefansson pointed out to me yesterday, deCODE was a publicly traded company, listed on the NASDAQ. It was always up for sale, and in a manner of speaking its ownership was changing all the time."
Is he serious? Minor shareholders having access to a company's intellectual property and a hostile board takeover? That is what it would have taken to get the control.....or bankruptcy. Which is yet again another reason why a doctor would be able to protect this data better than a corporation.
Will there be any more doozies in this?
What I found was a hard pill for most to swallow. The end conclusion:
"What's more, though, I've yet to be convinced that there is anything particularly sensitive about an individual's genetic information. For the moment, at least, the sort of genotype data held by deCODEme isn't very useful to anybody other than me -- and even then, its chief value lies in satisfying my curiosity. I'd be much more worried if it was my financial data that was changing hands"
Ok, so here is the problem. Either you believe or you don't believe that your genome will hold useful information that may help predict your risk for disease.
If you do believe, then how could you not be scared about some discovery down the road that may be used against you by the "new owners" of your data?
If you don't believe it is a big deal, then why in the hell did you have the scan in the first place? To write a "news" story? Sorry, I mean PR piece......
In fact that's it. The people who bought these DTC tests were SV tech junkies and piss poor journalists who couldn't get anything else published. Now that they have all used up the story, there is no one left to buy decodeme.......et.al.
I do agree with the writer on one thing: There will be more failures. No amount of PR can fix that.
The Sherpa Says: Either you believe or you don't. For those who do, DeCode's failure should shake you. I am certainly glad I chose the IRB approved Coriell Personalized Medicine Collaborative to do my SNP scan.......
Wednesday, November 18, 2009
I recently read a Times blog post by Mark Henderson because it was referenced by Dan Vorhaus on Twitter. I have to say, I am blown away by the cognitive dissonance here......
Tuesday, November 17, 2009
Monday, November 16, 2009
I have been railing the last few days so I want to take a step back and examine what exactly is happening in the DTC Genomics space. (By no means an exhaustive list)
Navigenics-Partnering with a concierge medicine group of Internal Medicine physicians, convincing them to use an unvalidated genome scan to practice predictive medicine. Also using clinical language and inferring that this service can be used as such. Also with the new CEO who used to be a muckety muck at Humana Insurance company.........Hmmmmm, add in the PR hype of partnering with Harvard to Educate the pathology residents about microarray testing without the knowledge of Harvard's Clinical genetics teams.....and you have some pretty nefarious stuff going down here.....in the quiet light of day.
Pathway Genomics-Funded by the PayPal Mafia and the Napster Wunderkid split their services into clinical and ancestry. Smart.
23andME-Partnered with anyone they can get their hands on, recently split their service lines into ancestry or clinical OR both......They have had 2 rounds of layoffs, lost one of their founders, moved into the googleplex, have employees leaking info about them online, have cut software engineers and kept the PR/marketing people, pissed off the NYS attorney general and now changed prices AGAIN
TruGenetics-Couldn't find funding and are in holding pattern........who knows what that means. But they did prompt a brief legal review of what would happen if one of the DTC companies goes bankrupt or is sold......Basically, all bets are off and your data will likely be sold off without your consent.
Knome-George Church's vanity plate is still alive and kicking. Partnering with SeqWright and Beijing they are positioned to take care of the rest of the worlds billionaires.......until the price of genome analysis comes plummeting down........
Scientific Match-Still making matches one MHC group at a time.....luckily they don't test for medical conditions.....
DNADirect-Wow! Has Ryan managed to drive under this radar! I am so amazed at what DAN Direct has morphed into. They are in essence a medical practice who also directly competes with generation health on the GBM side. They are also serving as a telegenetics consultation service. In all honesty, DNADirect is the true bellwether here. They have been around since 2004 and have weathered all the shitstorms. Which means, many other companies are likely to follow suit, in a matter of years and at a matter of costs.
DeCode-What was their stock price again???
There are others, but I think this is a good list to review and think about where they are in the life cycle of direct to consumer genetic testing.
The most interesting of these is DNA Direct. Ryan Phelan started out with a message of:
"You deserve direct access to your genes"
Then became, "We partner with doctors to give you the best care of your genes"
Now is that PLUS, "We help your insurer save money by directing how you pay for your genes"
What has occurred? Well, they saw the law, they also saw that they couldn't survive with just computer science engineers or marketing and PR folk.
Ryan saw that the real growth potential is in caring for people. Why is that important? Because genomic medicine is about medicine and people. Not stock photos and flashy websites.
She is right. I am always amazed by her prescience here. Despite my wailing about here over the years, she has come around to my side....
Will the other companies follow suit? One thing is for sure, Ryan isn't around just because she has raised lots of capital....
The Sherpa Says: I have been here climbing the personalized medicine mountain for a while now. I have seen 'em come and go, but Ryan is a seasoned climber. More of these companies would do better pay attention to her rather than silly price changes....
Posted by Steve Murphy MD at 5:20 AM
Saturday, November 14, 2009
"As I had postulated before, in order to move towards a profitable direction the DTC companies would have to choose "Medically Relevant" or "Novelty Testing" From this recent email sent to me by a reader it is clear, 23andME is Choosing to become a clinical service, without accepting the clinical responsibility."
This from my post February 14 2009
That was the day the announced that they were doing BRCA testing. Since then we have created a little video that may now be running through the silicon valley.........
Because, at the Spittoon (brrrrrrr-ding) they have announced that they will be splitting their service into 2 different types of tests
The first "A Novelty Test" which will be solely for ancestry.
23andMe Ancestry Edition – $399
The second "A health test" which will be solely for medicine while still disclaiming it is not. 23andMe Health Edition – $429
"With the launch of the 23andMe Health Edition we are releasing 13 new carrier status reports. These reports will help you know more about what may be in store for the next generation. We are expanding our cystic fibrosis panel report to cover the full panel of mutations recommended by the American College of Medical Genetics, as well as several additional mutations. We will also be providing data for most of the mutations routinely screened for in the Ashkenazi Jewish population, including those associated with Tay-Sachs disease, Canavan disease and Bloom’s syndrome.
We are also continuing to expand our drug response offerings. The next report to come out, Pseudocholinesterase Deficiency, contains information for anyone who will be undergoing surgery."
Ok, a couple of things.
First-This health test IS a MEDICAL test. I have sent off CF carrier screening medically, I have also sent off for Malignant Hyperthermia testing as well.........
Each has their own limitations which I have had to counsel patients about........For an hour a piece.
Second and more importantly, this appears to be another price change for the 23andME service.
If it turns out this company gets eaten up by Google, I am certain google will then own your genome scan data.....So I have one thing to say to the consumer
Buyer beware here, please. I only ask and beg the proper authorities to uphold the current laws and regulate appropriately to protect the public health and welfare.
Why do I say this? Because a BRCA test or a CF carrier screen which was inappropriate that has been performed already on the public, without medical regulation, or without proper medical guidance could cause harm.
Lastly, this is likely a salvage play to keep the ancestry service before the feds come sweeping in......shut the medical service down.
I am certain.
Well, at least they (Feds and 23andSerge) have heard us........we only grow stronger because we are correct and hold to the theory that "What's Important IS What Is Important"
The Sherpa Says: Democratization is important, but so is not dying.......Why mix hair color with BRCA testing? I am glad Serge sees that too.......But now that leaves the health test as "Not for Fun" Looks like quite a change in defense of Mountain View's medical practice without doctors.....
Tuesday, November 10, 2009
Is it any surprise that insurance companies have no clue what the hell is going on with genetic testing?
You see, there are a set of ICD9 codes that can mean 2C19 testing or hepatitis pcr........
The coding system doesn't allow the companies to run their algorithms accurately......
Insurers have no clue which is which and they are getting banged out for these tests.
Don't believe me, just take a look at what United has done with their BRCA testing (which BTW has their own codes)
"By instituting a prior notification policy and placing Myriad in charge of determining which patients get tested, United Healthcare can monitor more closely which of its policy holders are receiving testing on BRACAnalysis."
Add in the SGO guidelines which suggest a 5% BRCA carrier risk may be worthwhile and you can see why the companies are looking to stop the carnage or testing overuse.
Myriad on the other hand would beg to differ. They see years of under utilization as something to combat. And they are very successful at it, just check out MYGN.
The answer is somewhere in the middle. What is a responsible insurance company to do?
Answer: Generation Health.
What happens when genetic testing costs less than 100 bucks? Well, then maybe Generation Health will need to speak with me regarding a diversification company we are working on.....
With other PBM companies actively looking at new automated strategies for GBM (not glioblastoma multiforme) Generation Health is an interesting play.
I remember speaking with a certain player who also was involved with the DTC companies, who agreed with me. DTC is a bull$h!t play, benefits management of real testing, hyperlipids, HCM, etc are where the puck will be......From the Genome Web article (HT Turna Ray)
"The partnership will also “allow the companies to explore future programs in the medical diagnostics arena to encourage appropriate and cost-effective testing for certain hereditary diseases, and eliminate unnecessary testing where evidence for clinical validity and utility is lacking,” the collaboration partners said in a statement. "
We talked about this for some time (unnamed MD and myself) and then.....radio silence.......Only to show up with funding and some small hits.
They chose genetic counselors instead of my band of geneticists......
These guys are moving in the right direction. The industry is shaping up and guess what the killer app for genetic testing is?????
That's right, actual, honest, regulated medical testing........ Go figure.
Now, who gets what, how is it paid for, how is it used?
These are the questions that will need to be solved.
Until of course the accuracy and cost of a genome is less than 500 USD Which could be quite a while.
Meaning, Generation Health has about 10 years of life as the company it is right now. Not bad.
Imagine saving insurers millions per year, then taking 10-20% of those savings......... per year CVS/Caremark is a great partner and now owner/investor.........A very strategic investment.
My guess is that the DTC companies will fall in line or perish. Then labs will have to start marketing better, offer faster turnaround times and there will be "preferred" lab status.....per insurer.
Basically creating a super confusing land mine for physicians and patients. Just like radiology, just like surgery, just like chemo, just like......medicines
The Sherpa Says: Finally, corporations and investors are figuring out what IS important. Staying alive and having your medications work!!
Monday, November 9, 2009
Wednesday, November 4, 2009
What is the difference?
I have heard it described broadly such as
"Patient empowerment in the health care context means to promote autonomous self-regulation so that the individual’s potential for health and wellness is maximised."
This could be just about anything, including diagnosis and treatment. Which is interesting because in all states of the US you need a medical license to do that.
I also have heard it stated specifically in the Patients Bill of Rights as
"The providing of information regarding therapeutic options so that a Patient can actively participate in the decision on whether to undergo a diagnostic or therapeutic procedure, or pursue alternatives." See Patient Bill of Rights
This is obviously more specific and falls in the realm of, you have a disease, now you can be empowered to actively participate in the discussion. I have always thought that if you don't have the terminology of medicine, this part puts you as a one legged man at an ass kicking contest.
The ideal place for patient empowerment is not sick in the hospital, by that time it is too late. You are sick and not likely to be able to learn as well as if you were healthy.
Which is why the empowerment piece should come in at the doctor's office or even at home in your underwear on your MacBook. I agree. I love when patients come in having read stuff. Just recently a patient came in knowing just about everything about a familial disease....the consult was super awesome and we had a great discussion. But again, this was a motivated subject.
But I ask, is that what the DTC Genomics coummunity thinks empowerment is? Is empowerment education? That is what the health community thinks.
But, William et.al. think it is more than that. They think it is access to biometric data AND interpretation of that. In some aspects, this could be considered education......
I agree, it is education of a sort. When it is from your doctor it is called good medical care.
But often it is through an Apomediary.
What's an apomediary? Well, 23andME considers themselves such.
even I consider myself an apomediary in things for which I am not licensed for (golf, start ups, etc). I.E. a self defined expert providing guidance to information about their "expert subject"
But for medicine, I am a licensed, board certified physician who has worked long and hard to stand by my expertise (8 years of work after my undergraduate work). Unlike DTC genomics companies, who are neither regulated, nor accredited to give expert medical opinion.
Thus, they are apomediaries. Is patient empowerment, unregulated access to apomediaries? Well, maybe. But I argue that DTC genomics are more than just Apomediaries.
They test human biologic samples and provide a diagnostic result, despite stating they are not providing diagnosis. Think BRCA carrier status here. Which BTW is a medical diagnosis. With a medical test.
So, is patient empowerment the ability to obtain diagnoses from a non licensed diagnostician?
I would argue that this is precisely what I am opposed to. This can lead to all sorts of danger. Last time I checked, laudanum was not FDA approved, nor were the apothecaries.......
The Sherpa Says: We have come a long way since then and going back there would put us squarely into the stone ages for quality of care. Which is why I am so vehemently against a company that tests your human biologic sample and provides a diagnosis without being licensed to do so. Change is Needed William, I agree.
Posted by Steve Murphy MD at 5:48 AM
Monday, November 2, 2009
23andSerge has layoffs, big surprise.
When Linda left, she had a tribe that left too. I am working on hiring one or 2 and will see what exactly was going on over there......Likely a huge cash bleed
GAPPNet has their first meeting, which I missed.
I will email Dr. Khoury and find out how it went.
Daniel MacArthur pointing out that 23andSerge could have bashed bad science, yet instead promoted it......No surprise there either.
It looks like 23andSerge fired the engineers and scientists.....and kept the PR and marketing wonks.......
Well, in the end it is crystal clear
It turns out the lawyers questioned this as well as Misha.....Turns out, if you took the genome, then you probably can sell it.......better yet, if you "acquired it via firesale" you also can probably sell it and break all kinds of "terms of service"
What's important? Not having your genome sold off? What's important? Being able to be certain the person who has your information won't sell it to the highest bidder......Now do you see why it is important to have a doctor involved in this? We CAN'T sell it off. Even if we wanted to. It would be against the law......10 years in Folsom or 250,000 USD......OR BOTH!
The main problem is that a lot of people are confusing things.
What is important IS "What is important" not cocktail parties, blimps or CEO's from insurance companies
(hmmm, I wonder what Navigenics is thinking about doing with it's company?) Maybe Humana wants Navi, to profile their patients?
The Sherpa Says: Companies are most dangerous to their customers and the public when the chips are down. They often do unthinkable and crazy things........for cheap. Anything to survive, that is the motto of the startup. Do or should they have any loyalty to you, AFTER they already have your money? No, unless legally bound.....This is yet another reason why a doctor should be involved here.