As you now may be aware. DTCG is considered a medical diagnostic according to the FDA. I look forward working with companies who may now allow me to use their tests for medicine.
Could I go on a huge rant about 23andMes mess up and how it was discovered by a customer rather than LabCorp or 23andMe?
Yes. Would it be useful?
No.
Why?
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......
I want to know, when everyone got all upset with my review of the Quake paper and bashed me on this blog. Why?
Ok,
By December 21st the writing was on the wall. It was pretty obvious CVS/Caremark had jumped over the number one PBM in the field MedCo.....
How so?
Well, the increased ownership in Generation Health that CVS/Caremark laid down was the way.....
The newest of the benefits management companies.....this time the focus was on genetic testing benefits.
Personally, this type of company should have been formed in 2005 when Insurers were hemorrhaging cash from those BRCA tests........
But, slow and deliberate do Insurers move....
On the 21st it of December it was all but decided for MedCo. Ummm, Ummmmm, who looks like this Generation Health company?????
I knew back then and now everyone knows today.
MedCo buys DNADirect.....
In 2005 when My Partner at the time Leslie Manace went out to "see" Ryan...... In what turned to be a huge probe of Leslie by Ryan, Ryan revealed......"We are interested in PGx" Which was funny because so were we. So much so that we really thought that this was the bees knees and in fact was likely the only useful and scalable testing to come out in the next 5 years.
The DTC Genomics companies were merely a twisted dream at the time.
Well, Ryan. Our hunch paid off.
By Diversifying your DTC genetic testing company into something useful such as a GBM, you have moved shrewdly. And when the PBM leader gets trumped by CVS, you reap the rewards.
I look forward to the first quarter report from MedCo to see exactly how much they acquired you for.
I have been saying on this blog that the answer for these DTC genomics companies is to follow your lead. Now the question is, which big insurer will now but a DTC genomics company?
For MedCo, I am a little disappointed that you decided to choose the exact type of company as Caremark did. There are lots of other solutions out there. I hope you still plan on increasing your footprint in this space. Because it would be bad if CVS/Caremark continues to gobble these companies up and you end up buying the second in class.....
Not that DNADirect is second in class, but Heather Shappell et.al. ARE First Class.......
The Sherpa Says: There has got to be a way to make these companies less reliant on people. Even in the genetics testing space, there is a way to automate.
I am so blown away at the desperation (def: recklessness arising from despair) of the DTC companies. Recently my iPhone has been flooded with all sorts of clinically inaccurate information designed to make people think that something miraculously has changed with DTC genomics tests.
A change so impressive that it now appears as if you can actually do something about the results.
The best is a video now on Navi's website
2 sisters on the site taking about their results......likely plants......
The transcript includes these misleading words.......
Sister 1: We both tested "High" For Colon Cancer!
Sister 1: But the Crohn's disease was "really high" on my results. Which is interesting because, I didn't know we had that disease in our family......
Sister 2: It is a disease that is 75% genetic but 25% controllable by environment and diet
Sister 1: So I am making an appointment now to go see a "Gastro Doc"
Explain this to me, how in the hell are they getting away with such a flagrant use of insinuation that they tested for the exact 75% genetic part of Crohn's.... AND who the hell says it is 75% genetic but 25% controllable?
What does that exactly mean?
Chalk another piece of false advertising claims up to the geniuses at Navi......Good job Denise.
Let me know how that call with the FTC goes......and clean up your twitters.
Inferring that you can find out your risk for colon cancer with a gene test is false as well.... I am not going to even comment on their partnership with the Toronto Clinic other than to say that this will likely be the move of these companies prior to the US regulation hammer falling.....
They (DTC Genomics) will all move to foreign markets like Canada, Asia and maybe even Africa. Because the EU and likely the US will have had enough of their false claims and shenanigans.....
This video and the tests have tricked this ASYMPTOMATIC woman into going to see a specialist, for what I don't know....I can't wait to see the GI doctor's face. Assuming of course this wasn't just a bull$h!t marketing video that wasn't real.
The Sherpa Says: Want to know about Crohn's disease? Don't think that a few genes can give you disease or that we even know how to modify the environment enough to prevent it. I know for sure that eating some carrots, onions and peppers sure as hell ain't gonna prevent it.....I hate marketing lies. And these guys do it ALL the time.
Ok,
I am not late to the party here on this one. I have been talking about this for quite some time with posts which include
"We have No use for YOUR laws"
"Who Needs Institutional Review Boards"
"Steal Your Baby's Genome"
I could go on and on here, but this is a natural move here.......
23andSergey have decided to move the company into a space which is less likely to get them into hot water with the federal government and in fact may win them a few points with the Federales....
Why? Everyone knows the end game here. A huge database of millions of phenotypes paired with millions of genotypes and millions of metabolomes and millions of demographics........
With that you create the greatest query machine for human health, generate hypotheses from this and cure mankind of illness. That being said, what 23andSergey have now done is start the "Research Revolution", which to me sounds a lot like Dr Atkins Diet Revolution of the seventies. You remember, the guy who says "I am not really a science guy, but trust me this works"
Let me explain why their intention may be very good here. What usually happens in research: The government gives a bundle of money to a researcher or a consortium of researchers who apply for it by writing tedious grant proposals, rather than teach other doctors, students, etc about genetics. Then each institution fights like hyenas over the money to assess institutional fees (also known as indirect costs) Some institutions can take up to 30% of the money before ever getting the research off the ground......(Sounds like another money making scheme to me)
Finally after a year of planning and a year of grant writing and a 6 month ordeal with IRB approval, the study is maybe ready to get underway. Often it may take another 6 months of planning. Thus 2-3 years of leg work to get some large study started, another year to 10 to get results......
So what has 23andSergey decided? The current research system sucks!
Listen closely.......I agree with him, I also agree with the other 23.......
The system is broken, probably just as bad as medicine. So what did 23andSergey do? They launched Research Revolution!!! So the first thing I did was look it up.....But I couldn't figure out what Steven Wagenheim had to do with 23andSergey
Finally I corrected the error and landed at 23andResearchRevolution
It turns out I wasn't late to the party. There appears to have only been 4 people to sign up for this Revolution. Which includes a test for 99 dollars, the inability to keep your own personal genomic data, and of course Sergey!
23andSergey have decided that because the system sucks, they will change it by crowdsourcing research, which could be a great thing. IFF you actually had statistically needed participant numbers, research goals, informed consents which go through the process, allow participation for free and an independent IRB......
It turns out in the whole "Scrap it and let's start new" 23andSergey have thrown out the baby with the bath water......
This could have been a fantastic and it may prove to be a fantastic way to recruit patients and hell, maybe 23andSergey could turn into a CRO organization, but this is no way to do real scientific research, but it is a way to do pseudodscience, like market research........
My assumption is that this start up has decided to move away from medicine, way too much heat there, and go further into the marketing, "science", and advertising land. 23andSergey will probably morph into this social network that does pseudoscience, much like their new partner patientslikeme......
They can sell their data to pharma and to marketing agencies, they can create the first genomic focus group.....without the ire of medicine and the government.......
The Sherpa Says: Hey, be a research captain and get a free T-Shirt with Sergey's face on it......Has all the hallmarks of successful participant recruitment already! Try again. Where is the mention of your IRB? Your ICOB? Your "scientists"? These Guys? Informed consent requires ALL the information. But, hey, at least you have 4, that's a start!
A recent study was brought to my attention by a great reader. I highlight it here, not because it is going to change personalized medicine, but because it illustrates some key points.
The study is entitled: "Responses to Online GSTM1 Genetic Test Results among Smokers Related to Patients with Lung Cancer: A Pilot Study" Cancer Epidemiol Biomarkers Prev 2009;18(7). July 2009
This study interested me for several reasons, the first of these was that it involved a hotly debated environmental detoxification gene which has been tested for by numerous nutrigenetics companies for years now.
The second reason it interested me is because it dealt with a population who knows that there family can get cancer when exposed to smoking. I have always wondered for years why there are these families out there who have multiple members with lung cancer, yet everyone in the family seems to keep on puffing.
Are these families full of ignorant people who can't put 2 and 2 together despite years of public health campaigns? Are the genetically or environmentally predisposed to smoking? Does the family have some weird death wish set of genes?
I have always wondered why they do what they do. This study evaluates precisely these families....
It was published on GenomeWeb and on several blogs as well as several news outlets with titles like:
1. Online Genetic Testing Appears to have Benefits
2. Study Suggests Online Genetic Test May help Smokers Quit
3. Possible Benefit From Online Genetic Testing For Lung Cancer
What they did: They identified relatives of Patients with stage IIIB/IV lung cancer who were receiving care in the Thoracic Oncology Clinic at the H. Lee Moffitt Cancer Center and Research Institute were identified. So in essence, patient who have pretty bad cancer, their relatives....who likely know that it is a bad cancer.
They tested the relatives for GSTM1 genotypes. Which is pretty interesting to me, because as the study admits, the Odds Ratio for Lung cancer in this null population is 1.15 to 1.17. essentially as close to one as you can get......
Which means that this association is pretty freaking weak......
So in essence they are going to clinically LIE to the person tested and tell them they had a higher risk.
Oh and BTW, they only analyzed 44 people.....Hardly a useful sample size, especially when 96% were white.....and 22% were college educated, hardly the 23andMx population......
What they found.
1. Smokers with the at risk profile GSTM1 nulls, remembered at 6 months that they had a "higher" risk.
2. Smokers with the normal risk, forgot that more often.....roughly 50% remembered that they were at "lower" risk
3. Both parties "believed" the test results equally........
4. There were NO SIGNIFICANT DIFFERENCES in uptake of the smoking cessation services between those who received the GSTM1-present and GSTM1-missing test result.......
5. At the 6-month follow-up, the proportion of smokers in each group who reported medication use did not differ significantly.
6. Perceived risk for cancer was the SAME in both groups
7. There were no significant differences over time in confidence in ability to quit smoking between the GSTM1-present and GSTM1-missing relative smokers.
"This observational study was not sufficiently powered for nor was it a study aim to assess smoking cessation as an outcome."
Obviously as it only had 44 participants in it........ So I am freaking left asking myself "Where in the HELL is the benefit?"
There are a ton of limitations which prevent this article from even being a study. It is an observation of a very, very small cohort......I consider this as statistical NOISE.........
But, the authors try to save themselves by stating "However, these limitations need to be balanced against the strengths, which include this study being the first, to our knowledge, to offer genetic testing for a common gene variant online."
Are you serious? Strengths? Maybe Strength, but I think that there is other research currently going on involving online genetic testing.
Maybe not published, but there is ongoing......
Some important points that I take from this paper........
1. DTC Genomics has a huge PR machine that will trick papers into writing bull$hit headlines and false claims....I.E. you cannot trust a single thing published in the lay press about genetic studies EVER!!!!!
2. How does a study with 44 people get noteworthy accolades for proving that essentially a single gene variant, weak association, does nothing in terms of empowering patients.....IFF you accept that this study wasn't just noise......
3. The DTC companies offer THOUSANDS of these little polymorphisms......if the people with normal results can't remember that they are at "REDUCED" risk from ONE, how can we expect people to remember THOUSANDS.....BTW, this is essentially like telling a patient that if they eat a ONE cheeseburger from McDonalds on Tuesday July 16th that they are at risk of a heart attack in the next 5 years......Statistical Bull$hit with ZERO Veracity
4. People will cling to the tiny shred of suspect evidence of the 6 of 44 who quit smoking.......% had the GSTM1-Null genotype, which if you look at statistics is likely pure chance as 50% of the pop is NULL.......Hmm whats the odds of 5/6 being null....I can't believe they even mentioned this in their paper.....What a crock!!!!!
The Sherpa Says: Just because it is published in a journal doesn't make it Good Science. Hell, it doesn't always make it Science at all.......Shame on the press and the bloggers who hyped this piece of garbage.......
This is a saying I have been using for about 4 years now.
When someone asked about testing for HFE and why we don't do it as the first screening step anymore.....
They often looked at me confused.....I then bring up the case of sickle cell disease.
Most doctors have seen a sickle cell patient in the hospital.......They may have even seen a family in the hospital, brother and sister, Son and Mother......but what most don't know is that the majority of sicklers never go into the hospital.....
That's when I ask, what is the mutation that the son and mother have? The answer Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position.
Now what about the patients who never come into the hospital?
Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position.
Why is that? I answer my question as they have lots of guesses....
"No Gene is an Island"
You see, there are several things linked to the development of the adverse outcomes with sickle cell disease. Environment, Modifier Genes, Epigenetics (which ultimately is environment) I could go on from there........but suffice to say, genes can only provide us a small answer into the majority of diseases......
Drug metabolism, is a very different story at times.....
I then go on to say that there are very, very few diseases for which severity of disease or even disease itself is attributable to JUST one gene........ Or frankly to JUST ONE MUTATION..........
The body is a set of systems and by being super reductionist and looking at one gene or one mutation versus another, we ultimately end up missing the boat and making a big deal out of something which is not so big a deal......
Or we apply something which may be clinically valid but have little clinical utility.......
Even worse, we take something which has wonderful analytic validity and to use it clinically, with a huge waste of money and a huge waste of resources........ This is the case with DTC.
Some may argue that we should allow people to waste their money on anything they want. I tend to agree with this.
However, what should not be tolerated is false claims and manipulation of claims without scrutiny.
In addition, something which meets the definitions of medicine, should be held to that standard......plain and simple........ Taking human tissues/samples and using them for research requires an IRB, taking human tissues and using them to predict risk of disease IS MEDICINE..........and should be regulated as such......
There are a whole host of laws which regulate how a doctor can advertise, why are we not applying them to these companies who are performing such analysis?
But more importantly, why are these companies the only people educating the public. And doing a very slanted and manipulative job here......
No Gene is an Island......thus no SNP is the end all or be all of risk.....It is much more complex than that.
Which is why I say "Family History is the cheapest and most clinically useful Whole Genome analysis"
The Sherpa Says: Someone is watching these claims, I hope you come here to debunk their junk.
Daniel MacArthur and I have been noticing something and he decided to cover it today, which is why I have decided to provide a counterpoint here....Also GenomeWeb published on this. SB 482 is a bill I glossed over in a post in the past and was recently interviewed for in the San Jose Mercury News.......
Daniel leads this as 23andMx leading the regulatory push.....but this is more insidious than that. This is 23andMx trying to cook the books and create laws which exempt them from the stringent regulation which they should receive......
I told this to the newsies over at San Jose on Sunday, so I am going to post this today......
It turns out that this bill SB 482 essentially exempts DTC companies from facing the harshest regulations that medical providers/labs have to face
From Daniel
"In other words, 23andMe is pushing to have companies purely providing analysis of genetic data regulated separately from those doing the actual laboratory testing. Since 23andMe out-sources its testing to an external laboratory, this would exempt the company from some regulatory requirements. The move follows some fairly serious regulatory controversy over direct-to-consumer testing in California a year ago."
Which I predicted BTW....... But in all seriousness, these portals to lab services view themselves as NON MEDICAL entities, that is the crux of this argument, and by passing this bill it would set legal precedent as being non-medical and not facing medical regulations......
But that bill should fall flat. Why? Because it is written with a false logic. I am about to explain the correct logic............
The assumption is, that by only running an algorithm on biodata and giving a risk number, you are not practicing medicine.....nor is it running a laboratory....
Thus they don't need healthcare regulation or medical lab regulations.....but they are dead wrong.....
The first myth: Running an algorithm on biodata and giving a risk estimate is not medicine.......
Answer: IN FACT it IS medicine, the AMA guide book for Current Procedural Terminology acknowledges that this IS medicine and it should be coded with the number 99420 of the evaluation and management code..... I run something called a reynolds risk calculation on patients. It is a computer algorithm found at www.reynoldsriskscore.com. Give it a shot, you will see it is very similar to a DTC genomic test. I bill and get paid for providing this medical service......
The Second Myth: Because we don't run the test, we shouldn't be responsible for CLIA regulations. We are not a laboratory.....
Answer: This company actually accepts ownership for the sample and provides specimen handling which is delivered to an analytical facility.....By merely handling the specimen they need to be considered as part of the healthcare unit, or apply for CLIA exemption. Any handling of any specimen can be billed for and should be regulated as such..... Not the shipper, the company/person/lab who takes ownership of the specimen.....
Lastly,
I was on twitter last night when I saw this ugly retweet come from the account at 23andMx RT @dane: @23andMe BTW, you saved me $25 for a CF test - used my and spouse's 23 results instead. Thx! (via @23andMe)
Which raised eyebrows from myself and Daniel
"@23andMe For once I agree with (Steve) - implicitly promoting your chip as replacement for a validated CF test is a risky move.I basically said that this is the type of shennanigans coming from a company who isn't being regulated.
If they were, this insinuation that using a 23andMx test for a clinical use, would never bubble up.....but it did.
And I am willing to bet the twitterer for 23andMx isn't medical at all....... Which is once again why, oh why SB 482 needs to be shot down immediately....
I am glad the ACLU is on this, but the AMA, The ACMG and the NSGC need to be all over this bill too........
As you can see from the edits, this bill was initially proposed as a healing arts bill, which is what it is....... But even with that, 23andMx has no use for YOUR laws.......
The Sherpa Says: 23andMx deleted that tweet, so at least they understand that what they are doing WAS and still is wrong......
I was at morning report about 6 months ago after hearing a talk from the Leiden people. It turns out they had never intended the testing to be used the way it has in the US.
In fact, it seems for the last few years, everywhere you turned, every doctor was doing genetic testing......this time not for Hemochromatosis, which, again is not particularly useful as a screening test for disease state. This given the low penetrence and of the disease in those who have the mutations (Which is once again why DTC HFE testing is silly)
This time it was for Prothrombotic state with Factor V Leiden and GP20210A mutations/polymorphisms.
Why did we do this? Well, we ere taught that having these mutations put these patients at risk of having Deep Vein Thrombosis. Even perhaps that we give aspirin or blood thinners to these patients to PREVENT DVT etc......
In fact companies sprang up offering DTC thrombosis testing. It was actually one of DNA Direct's first offerings, before they wisened up and got into the clinical genetics business. But after this my guess is healthcare plans may balk at their advice to do Thrombophilia testing....So much for letting genetic counselors guide test management.....
But back to my story....
At morning report, I posed a question to the residents........
"What piece of evidence exists that indicates that we should be doing genetic testing for patients who have had DVT or Pulmonary Embolism?"
They were shocked at my answer........
"There are really no good studies which make me want to do genetic testing!"
"What?" they said. They even argued that I was wrong! Vehemently.......finally it is nice to see what I said have some teeth. Imagine that, a gene guy arguing against genetic testing.
Did you see? AHRQ, the research organization that is part of the Department of Health and Human Services.....(to be read as the comparative effectiveness organization)
Well, they find, upon reviewing 7777 titles and including 124 studies, they find..........
No direct evidence that testing for these mutations leads to improved clinical outcomes in adults with a history of VTE or their adult family members. The literature supports the conclusion that while these assays have high analytic validity, the test results have variable clinical validity for predicting VTE in these populations and have only weak clinical utility.
And we are talking Odds Ratios of 10 here guys and gals
Heterozygosity [odds ratio (OR) =1.56 (95 percent confidence interval (CI) 1.14 to 2.12)] and homozygosity [OR=2.65 (95 percent C.I. 1.2 to 6.0)] for FVL in probands are predictive of recurrent VTE. Heterozygosity for FVL predicts VTE in family members [OR=3.5 (95 percent C.I. 2.5 to 5.0)] as does homozygosity for FVL [OR=18 (95 percent C.I. 7.8 to 40)].......
So I really think we need to be very serious in analyzing our clinical utility of genetic tests......
Whether SNP scan or Genome or Single Molecular test.....The Government is on to this molecular game now......they will not rest until all waste is removed from their system. When insurers see what the government is doing they are likely to follow.
Which means we will begin to see even bigger claims of BU11$H!T out of marketing folks to overcome the overwhelming "MEH" coming out of the US Government and the physicians......
It is just good medicine to look at clinical utility of a test before ordering it. Which is why I predict only bad doctors will not heed the call of AHRQ here and why I still maintain MDVIP is practicing bad medicine by integrating a test with no current clinical utility into the care of their patients....
Stop the partnership Ed, I beg you.......
The Sherpa Says: I am completely unsurprised about this as I have been avoiding the hypercoag genetic work up lately. After the scientist from Leiden said that this was a ruse.....I began to wonder how many millions insurers had paid for this testing.......Thousands get PEs every year, even more get DVTs.......Maybe resource management would be better through Generation Health than DNA DIRECT
The other day I was flooded with emails from my readers about my post about the whole genome scan dirty little secret. Some agreed with me others vociferously defended the need for "further study" But the best was an email from someone who worked for one of the big scan companies, can't say which one, can't say who.
I Quote
"The speculative questions that you ask about interpreting whole genome sequencing indirectly relates to exactly what the cyclical problem is with an industry of genomic researchers who don’t practice science. Instead, they practice following the recommendations and protocols developed by instrumentation vendors, as if Mike Hunkapillar, Sue Siegel, and Jay Flatley had once parted the Red Sea"
I tend to agree that this comes down to a question of thought leaders in the field. This reminds me to the initial flack received by David Goldstein and even the Ire by Kari Stefansson expressed towards David. But then others soon stepped up and voiced their concerns here. The same thing happened when I expressed concern and reminded everyone about the laws that exist for DTC testing...
Why as a field, does genetic have this lack of willingness to challenge? I think it is for a fear that the spotlight which now shines so brightly will be dimmed because of controversy.
I disagree. Controversy is what will make this field the most robust, the best press worthy and most exciting field of "everything" for the next century.
Let's face it, there is no way that the lights will dim on Genomics. The real question is what will be the representative face of the field. Right now, it is all hype and iPhones and California Silicon Valley.........
I await to see its next face.
Maybe it will be Moses?
The Sherpa Says: It all comes down to the fact that there are so many more data points to look at than just the genome.......
As if this couldn't get any worse for genetic counselors, who BTW get paid next to nothing by insurers........ United Healthcare is now requiring Prior Authorization for BRCA testing. In their policy bulletin from May, Volume 31.......
The coverage determination made regarding BRCA testing for your patient will be based on the UnitedHealthcare medical policy for BRCA testing, which is based on the clinical evidence and is closely aligned with the criteria developed by the organizations listed above. This coverage determination will be conveyed to you promptly by either phone, or letter or both. Of course, adverse determinations are subject to all applicable appeal rights.
Add that to the list of scut work which the counselor will get stuck doing.... So much for same day testing in a timely fashion! At least you get an appeal!
My guess is that this set of patients will get the services they need, in a very, very delayed fashion. I sure hope we don't see a cancer develop in one of this patients while their testing is "awaiting approval"
A huge loss for cancer genetics, but also a stopgap from the misuse of testing which has been going on for a couple of years now, while Myriad has profited handsomely......MYGN...
Buttressed next to this claim is the fact that United will proved you with access to an "independent" genetic counselor..... How's that for lipstick on that pig.......which has me wondering, will that counselor be from DNADirect or Informed Medical Decisions.......DNADirect, BTW went from online test supplier to care provider........a sound business decision which I hope Navi will come to shortly.....
The Sherpa Says: Increasing barriers to prevent abuse is likely what will happen with healthcare reform....which is what shouldn't happen. What should is in the NYT Sunday....Hey, we do that!
I am busy pouring through all sorts of association studies which I had let sort of slip through my fingers. I have been cue'ing a lot of these and only in the last few days have been able to get to them. Most of the SNP that the press put out there now seems to be dying off pretty nicely.
Although there are bits of useful data out there, most is just noise......but one of the SNPs which caught my eye was rs2200733 studied in Icelandic, Italian and other Caucasian populations with a small replication in an Asian population as well......What does rs2200733 predispose to?
Atrial Fibrillation. A condition that can lead to unannounced strokes, syncope, and heart failure (at times) Atrial fibrillation is the most common arrhythmia in the United States.
About 2.3 million Americans have atrial fibrillation (Go, 2002). Men have a 50% higher incidence than women at any age (Benjamin, 1994). Among individuals 50 years of age and older, the prevalence is higher for Caucasian individuals than African Americans.
The prevalence of atrial fibrillation is 0.1% for individuals under age 55 and 9.0% for individuals over the age of 80 (Go, 2002). HT CPMC.....
Here's why I am revisiting it? It popped up on my screen as a SNP with a study which purported an Odds Ratio greater than 2...... In my mind, no SNP should be even looked at without having this.....why?
Well, most clinical scenarios have
1. Good risk prediction tools already, as with the 9p21.3 issue
2. No true benefit of presymptomatic detection, i.e. no effective prevention (Parkinson's)
3. No ability to guide therapeutic decision making..... This is true in 99% of cases, aside from pharmacogenomics that is.......
So why am I looking again at rs2200733? Because this may actually be a case where I think it may augment my other clinical tools of prediction......Maybe.
Why only maybe?
A. Most of my patients get annual physicals with annual EKGs.....and often AFIB manifests with symptoms....
B. Most of the patients with AFIB are elderly and in the studies some indicate earlier AFIB pops, some don't which may be confounding in the study
C. Most of the people with AFIB that I see report a family history of some sort of arrythmia, most often AFIB.....
That being said, there is a population <10% who end up with No family history, Present Early and present with a stroke....It is rare, but does happen.....so I naturally would want to watch that population more than not......But does that mean I should do "More" for them?
In the age of Comparative Effectiveness, I may not be allowed to..........There is no ICD9 code for genetic predisposition to Atrial Fibrillation......
But maybe people would pay more than the 20 dollar copay for care???? Probably not that often, but maybe.....And for what? A home monitor to be hooked up on them 24/7?
It turns out
DeCode sells a test with this SNP, Is on the Affy and Illumina Chips, I.E avail for 23andM- and Navi.............
None of these are actually valid clinical tests yet though.....Similar to other "clinical" detection tools we have today.
So what I am going through is in essence mental acrobatics while I await a company to do a study which proves that there is some benefit and some action to be taken here.......
The Sherpa Says: While a promising SNP is out there, it is just that a promising SNP. Most of these things won't affect me clinically for another 5 years. I wonder what the public will do with this data? Will they go see a doctor? Who ultimately would be asking the same question I am.....and waiting for the same data
Happy Donut Day Everyone!
"Wha?"
That's what I said as I walked into my Dunkin Donuts across the street from our new HQ. The guy saw me coming in, prepped my coffee, Large Blueberry, Milk and Sugar......
As I went to pay, he said, "Happy Donut Day" I barely understood what he said when the manager said "Pick your donut, FREE"
OMG, as if I wasn't fat enough. How many other of my readers took the free Donut today. I looked around in my DD and it seemed everyone took the donut.
People certainly are game for free......... Speaking of FREE, the Coriell Personalized Medicine Collaborative is in essence a Navi/23andM- scan for FREE. I just got some more results this week. I don't have Hemochromatosis HFE type, Hooray! This can be yours as well.....
That is if you are willing to participate in the study. Which BTW, will be covering some markers which are NOT covered by any DTC company.........And these markers ARE CLINICALLY RELEVANT!
So what I am getting at is that the early adopters should not be paying anything for these services........
While the donut fills my sense of hunger for food, the SNP scan fills your hunger for knowledge. Either way, it should be free. Yes, only on Donut Day, but on non-Donut day it is only priced at 99 cents.....which is where the SNP scan will be soon enough....
Speaking about the SNP scans, I am sitting here pouring through literature for the CPMC's next ICOB meeting, which I will be attending via satellite from my outpost on the Gold Coast......
We have some interesting SNPs to debate about........It seems as if we aren't the only ones doing this......EGAPP does it as well and it sure is nice to have an EGAPP member on the ICOB......
But now the CDC has created GAPPNet. Huh? GAPPNet? "Mind the GAPP." Get it? What is it?
From the Site:
"GAPPNet aims to accelerate and streamline effective and responsible use of validated and useful genomic knowledge and applications, such as genetic tests, technologies, and family history, into clinical and public health practice."
I wonder why they didn't call us.
At Helix Health of Connecticut we do this everyday.....Never mind the website, we are rebuilding it, just like the offices....... I really hope they do, as the inaugural meeting is on my birthday........I won't hold my breath though......
Come on Muin, just email me.......PUHLEEEEEZZZZ!!!!! There, enough begging for the day.
So you can read about GAPPNet in the ACMG journal Genetics in Medicine, provided you have a subscription, at 1k per year, sorry blogosphere......
As I close on this Donut Day, I want to say, not everything that is "Free" is ok. Remember that when it comes to storing your medical records........From Forbes on the 3rd, UC Berkley medical records hacked...... To protect your records, we are investigating NSA level encryption tools......You can never be TOO PARANOID......(Devilishly Crazy Laugh)
The Sherpa Says: To charge a price, you must prove value, to demonstrate value you can't go on Oprah and say it has value, you have to PROVE it has value.......You do that by "Just Doing It".......
First, a little personal info. I am the proud father of yet another Murphy Daughter! This weekend has been amazing for me. Even better, as we went into the hospital I received an email. Normally the only people emailing at this time are my patients or I am getting results from lab tests I ordered.
So, I felt obligated to look when the iPhone buzzed.
It was an email from John Boyce....... Who is John Boyce? From his website: John recently served as Head of Business Development for Helicos BioSciences, where he was responsible for identifying new market opportunities in which the company was able to develop new applications that gave it a substantial competitive advantage.
John founded Delphi Bio a strategic consulting group for genomic start ups.......
So about a week after I got done trashing the Bubble Con known as the Consumer Genomics Show I received this email from him and Bob Green over at Harvard.
Why did I bash the conference? Well, from the line up of speakers, it looked like a wonk fest attempting to hype Consumer Genomics even more than Oprah could possibly do, BTW did you see the Newsweek article stating that Oprah should stick to talk shows and stay away from Medicine?
Further adding fuel to my cynicism......
But when I read the request it blew me away. They were trying to make Bob's panel, Fair and Balanced.
You see, I think the big problem here, no offense Francis, is that the scientists we have on the cautious optimism side are actually pretty quiet and can get pushed around by the larger than life scientists and business people (GMC? Linda, et.al.) Which on a round table makes for a one sided conversation........
Thus, Enter the Sherpa or as Jeff Gulcher calls me "The Howard Stern of Genomics" But, alas, I had to respectfully decline. Why? Why would the Sherpa shun this opportunity?
Well, I just told you in my first line. Number 2 has just arrived and I am calling in for an ICOB meeting while feeding the baby...... So, I take back a lot of what I said about the Bubble-Con, it appears that there are some people striving to give the show a balanced feel. But my guess is, the pragmatic optimists like myself, will be in small number. Which is exactly what happened with mortgages, financial derivatives, .coms, I could go on and on here.......... So when the VC enter the halls, just remember, I would have if I could have........
The Sherpa Says: A consultancy group in Boston is now offering tickets for the show at 6 USD, and even deeper discount than DNA123........I would have loved to see this show play out.....I guess I will just have to send my crew......
HT-Genomicron for the b-day cake
First, I want to thank reporter Devon Lash at the Stamford Advocate, who wrote a very nice piece about the CT State Dept. of Health asking seniors to speak up about diseases in their family. So many people didn't speak of these things just a few decades ago, but they need to. The article misstates what I said, which is nearly over 40% of women were reclassified when using the Reynolds Risk score in comparison with the Framingham.
