To Quote Diane Sawyer "Is there any way that they could just report the diseases you can prevent?"
That was on Good Morning America today. I swear 23andME's PR firm has a plant in ABC.
So let me explain the clinical scenario. A woman walks into the OB's office carrying 30 pages of information on 90 different diseases. The super swamped OB has 15 minutes for the patient. In that time they need to go over sexual history, health history, anticipatory guidance regarding possible pregnancy, maybe perform a pap smear.....and suddenly, the OB gets ambushed with a 30 page hand out......
The Patient "Umm I was wondering, if I have a 1.37 Odds Ratio of having a heart attack, could I prevent my baby from having this?"
That is the story with 23andMe's new push for samples to sell to third parties....... errr sorry, I mean customers err......sorry I mean democratizing genomic testing.
That's right, they are going after pregnant women or women looking to become pregnant. In a move to fuse thenest.com with 23andME, in a hope to gain further samples by having women with a huge motive to protect their future, get DTC testing which in some cases may be clinical testing and in others, not at all..........
I am very happy this company has the PR power to motivate people to explore genetic testing options. I am not happy that they could pitch this as some sort of prenatal testing.
That being said, the OB community has been notoriously slow with some genetic testing, while amazing rapid with some others (SMA). And the OB often doesn't have the time or training to describe these clinical tests. Which may make this situation even more loaded with googling your genes.......
The Sherpa Says: I like alot of people am very mixed about this whole dump money into tests that may not be useful, but build the hype of genetic utility in order to "educate". On one hand it raises some awareness, on the other it may cause over utilization of medical tests or plain taking advantage of unsuspecting customers.....Time will tell what good the 2 gals at 23andME have done.......At least I already know all of the good that less than 1000 geneticists have done over the last half century. I put my money on THAT horse ALL the time.
Tuesday, March 31, 2009
Monday, March 30, 2009
Friday, March 27, 2009
I am preparing to speak at Yale School of Management's Healthcare 2009 conference. It looks to be quite a conference. The theme this year will be
"Where is the Value? Managing Cost and Quality in a Healthcare System Facing Reform."
From the site:
The Yale Healthcare Conference is a joint effort between the School of Management and the Health Professions Schools at Yale University that aims to bring together professionals, academics, and students to engage in an instructive interdisciplinary conversation concerning current healthcare issues. This will be the 5th consecutive year and we expect the conference to continue growing to over 400 participants.
The planned title and theme for Healthcare 2009 is Where is the Value? Managing Cost and Quality in a Healthcare System Facing Reform. This conference will focus on a theme of value in the healthcare system. The conference aims to address three principle questions:
1) How do we provide better care to more patients while keeping costs under control?
2) What are innovative public and private solutions to this problem?
3) What sort of opportunities and challenges will potential healthcare reform bring?
I think that this is a timely conference. With the administration supporting reform and already a record level of Medicare Audits in the system, it is clear that America will face a drastic change in the way healthcare is provided in this country.
My breakout session is on, guess what......
I will be accompanied by Dr Aidan C Power of Pfizer.
Aidan's team is at the forefront of Personalized Medicine and PGx at Pfizer. Aidan has been addressing several issues and study design for personalized medicine. One recent example is the issue of race and ethnicity in PGX.
Aidan has even been briefing the Personalized Medicine Coalition, something we at Helix Health of Connecticut are proud to be a part of.
The Sherpa Says: Healthcare IS Changing. This conference is a great way to learn about some of those changes. I hope to learn alot!
Thursday, March 26, 2009
Wednesday, March 25, 2009
Monday, March 23, 2009
In an age where no one trusts anyone and we see defiance of laws for the sake of profit I am still shocked and awed that companies that are formed to "Not be Evil" or to "Benefit Mankind" choose to ignore laws.
In healthcare, imagine if your doctor was found to be breaking the law. Stole from Medicare? Non-Compliance with State regulations? Spousal Abuse? Selling Drugs?
Most of these are career killers. In fact in CT we just had a large group of GI doctors who are now not doing so well because one of their partners was just charged with endangering a minor.
Why is it so vital that physicians, nurses and others in the healthcare field try to stay above the law? Because patients lose trust in the system. They begin to think that their care givers are reckless criminals. And WHO would trust their life to a criminal???
Apparently, this stream of thought doesn't even phase a company like 23andME. You see, they are blatantly breaking the law in several states. Why? They are on a mission. Destroy the current healthcare system, shatter the current ethical way that we currently practice research!
Why? They think that the cavemen currently practicing healthcare aren't in tune with their goofy Singularity!
How do we know that they don't care about the rules? 2 ways.
1.) They are actively doing research without abiding by the international "rules" for ethical research. They have no IRB and are coercing their participants by charging them money.
2.) They have said F~c& you to New York State by flaunting loopholes in their laws governing labs. In fact, NYS had asked them to destroy the samples which they had collected ILLEGALLY at a Fashion Show Spit Party.........In fact they post the loophole on their website
23andMe is currently unable to process saliva samples collected in or mailed from the state of New York. The New York Department of Health considers our Personal Genome Service a test requiring a lab license and direct physician involvement.
"If you or the recipient of the Spit Kit intends to collect your sample and mail it from outside the state of New York, please select the 'Ship to New York' button. … Upon receipt of your Spit Kit, you or the Spit Kit recipient will be required to affirm under penalty of law that the sample for the Spit Kit has not been collected in or mailed from the state of New York."
I watched the NY State presentation at the Recent SACGHS meeting. The woman seemed pretty pissed off at 23andMe's flaunting of these rules. In addition, she said that if they wanted to have any more spit parties, they could come up to Connecticut.....
But what she doesn't know, is that CT's laws are pretty clear about DTC testing as well......
IT IS NOT ALLOWED..........But that's not stopping the criminals at 23andME......
According to a 2007 survey by the Johns Hopkins University's Genetics and Public Policy Center, Connecticut, Pennsylvania, and New Jersey do not allow or limit DTC marketing of genetic tests and require tests to be ordered by a doctor.
23andMe offers its DTC service in these four states neighboring New York.
I guess they don't care about Connecticut's laws either..........or California's or Pennsylvania's of New Jersey's. I could go on and on here.
I have a big issue with companies looking to play doctor without going through the process of being a doctor. Or playing clinical laboratory without taking any of the responsibility of being a laboratory.
The Sherpa Says: DTC genomics companies in this current form are breaking the law and could care less. Why did I point out the insurance fraud going on at major academic centers? The same reason I warn state governments about the flagrant disrespect of these laws. You cannot effectively practice medicine when the "Chain of Trust" has been broken......
Friday, March 20, 2009
Navigenics now is the proud owner of a laboratory. Congratulations! Now New York State has some hefty regulations for you. Otherwise, you can't test people in New York.....Pay close attention to numbers 4 and 5....
NYS Clinical Laboratory Permit Requirements
1. Qualified Director, PhD, 4 yrs post doc work.
2. Application and fee 1100 USD
4. Assay validation
5. Compliance with all applicable statutes and rules
1. Assay description
2. Consent process
Consistent with NYS CRL s 79-l
3. Analytical validity
4. Clinical validity
Documented association of analytical target with clinical condition or outcome
5. Reporting format
NYS PHL Article 5, Title 510 NYCRR 58
2. Laboratories must report the results of the test only to the person who ordered the test
3. Laboratories may communicate with the tested person only at the written authorization of the ordering person, and then only to repeat the test results
Direct billing law
2. Provider to provider exception as between laboratories
3. "Facilitators" cannot receive funds from the person tested or pay laboratory service bills on behalf of that person
3. Provision of services to the tested person that would otherwise be provided by the practitioner
Thursday, March 19, 2009
Ok, so today is one of those little rant days. I am pretty sick and tired of companies, politicians and bankers......
It just plain stinks that our economy hit the skids. But we did a lot of this to ourselves. How?
Some say Greed.
Others say lack of regulations.
I say, we believed in Bull$h!t........Everyone was selling it...... That is what killed this economy.
Think about it, our intuitive BS meters were dropped a long time ago. Million dollar homes in rural America???? Sure, why not? Everywhere else prices are going up....
Only make 50k a year? That's ok, your house is worth that million.......We'll take that risk.
The same thing was true with Biotech and this new abomination of DTC.......
Have a technology that has no true clinical application, nor proven utility for informing people of risk????
Sounds great. Here's your term sheet.....heck, why not? Everyone else is doing it......
This type of overselling killed the mortgage industry. It destroyed the market......And like Francis Collins had said in the past, over selling personalized medicine is the quickest way to destroy its promise......
But, don't worry about me folks......My bull$h!t meter is back on and ticking.......That's why I laugh about Navigenics......A good friend of mine pointed out that they were hiring in Sacramento and it became very obvious.
A. They were starting a lab OR
B. They were buying Affy's lab
It became clear when they announced (Likely Early) that they were buying Affy's lab with the 6 million they had left from after their bender in SoHo.....
Ok, makes a ton of sense. Navigenics will need to make a clinically useful test.....but owning a lab is not the way to that.....the Scripps study is.........Which is why my Bull$h!t meter really went off the hook!!! Listen to this....
From Vance (Romance) Vanier.......
"For its part, Navigenics decided to acquire the clinical lab because the company has seen an increase in the volume of orders for its genetic screening service, according to Vance Vanier, Navigenics' chief medical officer."
Really? In an economy when people are trying to decide whether they buy their life saving medications or eat, there are way more requests for a suspect test which STILL COSTS MORE than 23andMe's "similar" test.....
Even richer is the fact that Affy would sell it to you. They spent 10s of millions putting it together, it is over 10,000 square feet!!! And just WHEN, do you expect it to start producing revenue for you on a mass scale????
You have to be either:
A. Full of Bull$h!t because you are looking to flip a company and need assets to sell it.
B. Blatantly lying to hide some other agenda
D. Actually selling more tests.....but to whom? The Government? The military? Those are the only buyers I see out there......and don't they already have NHGRI????
He goes further
The increase in testing volume may be attributed to the launch of a cheaper service offering, a marketing partnerships with a physicians group called MDVIP, and a research collaboration with The Scripps Translational Science Institute, Affymetrix, and Microsoft to genetically screen 10,000 participants.
Ok. So the answer is you are full of $h!t because you are trying to flip a company.....
1. You guys just said it was hard to recruit people for the Scripps Study
2. MDVIP's CEO was extremely lukewarm when talking about the partnership
3. You service is STILL MORE THAN 23andMe's!!!
The Sherpa Says: DTC genomics, your venture teams are killing personalized medicine.....WHY??? Just like Chris Dodd, your VC teams are full of Bull$h!t. Even Medicare is on to you.....and so is New York State. When will we demand honesty from our financial organizations???
Tuesday, March 17, 2009
ACP Internist is assessing how often internists are asked by patients about direct-to-consumer genetic tests.
Learn more about the impact of direct-to-consumer genetic tests here and here.
Sunday, March 15, 2009
In case you missed my recent posts about Navigenics and 23andME, let me recap.
1. They lost their CEO. Who was in essence an executive in residence for one of the venture firms funding Navi. I.E. Kleiner was running Navigenics to begin with.....
2. I predicted that by the summer these companies.....Navi and 23andME would show whether they were going clinical or way of the novelty test....Surprisingly 23andME continues to thumb its nose at academics, by launching research without having its own Institutional Review Board.
3. With 23andME now doing BRCA testing, while Sacramento SLEEPS, or is underfunded.....it is clear their intention is to go clinical and clinical research without taking any ethical or professional responsibility....
4. It is now clear Navigenics will go clinical, looking to recruit it's own lab staff........Where?
Who needs Ladders.com when you have Craig's List
Navigenics is a start-up company with headquarters located in Foster City, CA. with funding from three of the top Venture Capital Firms in Silicon Valley. We provide personalized health profiles for customers based on their genetic makeup. For more information see www.navigenics.com.
As a member of the science team, the Clinical Laboratory Scientist will help establish the clinical testing arm of the Navigenics Laboratory which is located in West Sacramento, CA. This position requires knowledge of clinical testing and the ability to be trained in molecular biology techniques, laboratory processes, specialized medical diagnostic laboratory tests, blood test procedures, and medical terminology in order to perform specialized medical laboratory diagnostic tests.
Wait a second........
Navigenics has a clinical lab? Really? I thought they were not doing the testing???? That was their half baked excuse right? Affy, does our testing, so we are exempt from CDPH.....
Well, maybe AFFY's lab is this lab? It IS in Sacramento...but then, why would Navigenics do the hiring????
Is this to appease New York? who has yet to let DTC enter the Empire State!
The Sherpa Says: If the genetics community allows this to happen, I will be surprised......Nawhhh, they are trying to write grants rather than stop the barbarian hoards.....Navi is going clinical, 100% certain of that now. Will they at least take the responsibility which the billionaire predisposed to Parkinson's won't?
Thursday, March 12, 2009
02-HG-102 Direct to Consumer (DTC) Personal Genomics--Ethical, Legal and Social Implications Research. Direct-to-consumer marketing of targeted genetic scans for particular disease mutations and for ancestry-informative markers has been available for several years, and a growing number of companies now offer direct-to-consumer (DTC) personalized genomic services based on more comprehensive genomic analyses. The emergence of these DTC genetic testing services raises many issues: Are such services a generally positive advance that empowers the public, or are they premature? What is the potential for consumers to be educated, helped, confused, or even misled by these services? How do those who use these services react to the information they receive? How do health care providers deal with this information? Research is needed to address these and other issues related to DTC marketing of genetic tests. HHGRI Contact: Dr. Jean McEwen, 301-402-7997, email@example.com
Wednesday, March 11, 2009
Tuesday, March 10, 2009
Friday, March 6, 2009
Dr. Sanjay Gupta, CNN's chief medical correspondent, has withdrawn his name from consideration as surgeon general of the United States, he said Thursday.
That's too bad. At least he had been pharmacogenotyped......
I wonder who they will nominate next? Kevorkian?
I was surprised that he was nominated in the first place, but actually looked forward to it.
Why did Sanjay go?
"I think, for me, it really came down to a sense of timing more than anything else," he said. "I just didn't feel I should do that now." Watch Gupta explain his reasoning »
I would do the same thing Sanjay.
Posted by Steve Murphy MD at 1:01 PM
Wednesday, March 4, 2009
- Prescribed to prevent a second heart attack or stroke
- Prescribed to prevent a clot forming in a coronary artery stent, which one often receives after having a heart attack
- Given in patients with PAD
It turns out that in order for this medication to work it needs to be converted from Plavix into its active metabolite. This type of medication is called a Pro-Drug. There are others like this, including tamoxifen and codeine.
Well, the enzyme which converts Plavix to its active metabolite is called CYP 2C19. We have known this since 2000. A professor of mine actually published on this back then. We even knew about so called "Plavix resistance" .
We know theorize that Plavix resistance is mainly due to polymorphisms in CYP 2C19. This has been studied since 2000, but only recently came to major light with articles in Lancet, New England Journal of Medicine......and my rants on this Blog and in Lectures at Yale and Affiliated Hospitals....
Now........the fly in the ointment....
Proton Pump Inhibitors(PPIs) like Prilosec and Protonix........Are available over the counter since they are so "benign"......
Well, we have known and studied since 1997 that Prilosec inhibited 2C19's ability to biotransform other medications.
So what about allof the people taking BOTH Plavix and PPIs? Let me guess.... the results are like the data in 1997!!!!! That patients receiving both medications have little Plavix effect and decreased platelet inhibition.
Well, that was shown in 2006 and even some preliminary data in 2004.
So one has to ask, well why haven't we put anything on the label? Why haven't their been huge warnings....even more so....how many people are on Plavix and PPIs? The pharma companies know.......how come they haven't warned people pre-emptively that there "May be a problem"
The FDA always asks how much evidence is enough.....but now with the study just published in JAMA it is painfully clear.....we have missed the boat by requiring TOO MUCH PROOF!!
What does the study say? Those who are on Plavix and Prilosec are 27% more likely to have a recurrent hospitalization or DEATH from acute coronary syndromes than those NOT ON THIS COMBINATION!!!
AND, 2 of 3 people in this study on Plavix......were ALSO on Prilosec!!!!
This study was a retrospective study which does have limitations, but has me asking why do we have 3 years of data on this combo 2003-2006, when we knew that there may have been a problem back in 2000????
Why didn't we do a better post market analysis?
But here's what they don't know.....the pharmacology literature is robust with Pgx data, just as it was with PPI 2C19 inhibition data....Too bad doctors don't read pharmacology literature....
Anecdotally, when I was a resident, I pulled all of my patients off PPIs that were on Plavix. What did I do? I did a med reconciliation and became aware of the possible interaction.....In this case it was NO BIG DEAL to put them on H2 blockers instead......
Primum Non Nocere.......not PRIMUM RANDOM DOUBLE BLINDUM.....
This just pisses me off.........9 years to come to clinical light........That is a damn shame, That may also happen with Prasugrel....
The Sherpa Says: Why do we as physicians wait for a large organization to say stop, when we have the education to figure out from the literature when we should have stopped? Or for that matter, when we should have started......the burden of evidence has been overcome here.....Unlike SNP Scans.......
Genome Web reports yesterday that DNAPrint goes bust.
Who was DNAPrint and what did they do?
DNAPrint Genomics, Inc. is a cutting edge company. We are concentrating our efforts in four distinct areas; Pharmacogenomics, Forensics, Genotyping, and Consumer Products. Our aim is to continue to research and develop novel products and services in each of these market areas and to be a leader in genomic-based technologies.
The Company’s core patent applied for and proprietary technologies for efficiently targeting single nucleotide polymorphisms (“SNPs”) enable us to provide novel predictive genetic tests at a significant cost advantage over our competitors.
What did they do?
Four things really
1. DNAPrint®'s genealogy product, ANCESTRYbyDNA™ 2.5, is a pan-chromosomal assay for genetic ancestry. The test surveys 176 Ancestry Informative Markers (AIMs) to provide an inference of genetic ancestry or heritage.
2. PGx- We currently have several pharmacogenomic tests in development:
OVANOME™ - DNAPrint® scientists are working on a genomic-based diagnostic tool to match ovarian cancer patients with the most suitable form and dose of chemotherapy.
STATINOME™ - This test is currently being developed for the cardiac drug market, and is expected to enable a classification of patients as adverse responders or normal responders to a class of drugs known as “statins”.
3. DNAWitness™ will provide the percentage of genetic make up amongst the four possible groups of Sub-Saharan African, Native American, East Asian, and European. When appropriate, DNAWitness™ allows for a breakdown of the European ancestry into four components: Northwestern European, Southeastern European, Middle Eastern and South Asian. The names of the components/groups is meaningful but not exact, since they are cast in modern-day terminology but the assay is an anthropological one that reports affiliation with populations who share common ancestry extending back many thousands of years. The real value of the percentages reported are as population (rather than individual) bar-codes, which are very useful for inferring certain elements of physical appearance.
4. Paternity-DNAPrint® genomics, Inc. provides an affordable, confidential and accurate screening test service for paternity. Our paternity test is processed on ABI 3700 and 3100 equipment, state of the art analyzers that measure the Short Tandem Repeat (STR) units.
This sounds like a lot of companies out there today.....Some are faring better than others....Whatever your take.....if these guys, who had customers couldn't hack it.....what's to become of those who have no customers???
Hopefully those analysts didn't take this presentation of theirs to heart.....or maybe the did?
The Sherpa Says: Hard times are coming, most biotech companies have less than 6 months of cash on their books. Somehow I doubt that the next big SNP study will lead to any more success than DNAPrint saw....
Tuesday, March 3, 2009
- In genetic studies, one potential cause of spurious associations is differences between cases and controls in ethnicity, a situation termed population stratification.
- Was measurement of the genetic variants unbiased and accurate?
- Methods for determining DNA sequence variation are not perfect and may have some measurement error.
- Do the genotype proportions observe Hardy-Weinberg equilibrium?
- Have the investigators adjusted their inferences for multiple comparisons?
I have several others to add to this list, but HUGENet covers most of them. What is HUGENet? It is the Human Genome Epidemiology Network and it is a "global collaboration of individuals & organizations committed to the assessment of the impact of human genome variation on population health & how genetic information can be used to improve health & prevent disease."
In essence this voluntary set of collaborators evaluates epidemiologically, NOT CLINICALLY, but epidemiologically whether a GWAS or other Genome study is valid. PLOS reviews thet workings of HUGENet in a nice article.
This is an important network to have.
In addition, EGAPP (Evaluation of Genomic Applications in Practice and Prevention) evaluates the validity and applicability of these results if they are attempted to be turned into clinical practice. This too is a consortium of physicians and scientists evaluating such tools. Genetics in Medicine has a nice article about the methods of EGAPP too.
It is important to note that these are not "in house" services. Why do I say that? Well it is a little cloudy if a company such as Navigenics or deCode is telling you that their tests are clinically valid......Why? Well, they are selling the tests. Doesn't that make you stop and think?
How does Navigenics review studies for clinical applicability? They have posted on it. In essence they require at least 250 cases and controls and have a limited requirement for independent replications.....unlike HUGENet.
Thus the quandary with "in house" statistical analysis for scientific validity OR clinical utility.
The Sherpa Says: If you want to know the skinny on any of these studies, you need look no further than EGAPP or HUGENet....rather than trying to make sense of it through your 23andME account or tursting deCode or Navigenics to provide "unbiased" evaluations.....
Monday, March 2, 2009
Over 6,000 known single-gene disorders. (This does not include multi-factorial diseases) “Every human disease has a genetic component.”
Family History: Can track an unlimited number of diseases. Any disease that has an inherited or genetic component can be listed on a family health history.
Genetic Tests: ~1,000 clinically relevant genetic tests available today. Most are for single-gene disorders, few adequate genetic tests are available for multi-factorial diseases. Direct-to-consumer (DTC) genetic testing services (# of diseases): 23andMe (26), deCODEme (35), Navigenics (23), Myriad BRCA (2).
ADVANTAGE: Family History