Away and now back, What did I miss???? 23andme layoffs? Selling Genomes for cheap up next!

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.

Go See a Gastro Doc

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.

rs2200733 ok, now what?

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

Bargain Basement Consumer Genomics Conference

Step right on up, come one come all....to the greatest show on earth!

Demand is so high, that we've dropped the price 99%

That's right, the greatest show on earth, known as the Consumer Genomics Show has reduced its exorbitant cost, just like genome scanning is going to do!!!

From 850 USD, which was dropped from over 1000 USD, to now 8 dollars and 76 cents

Just use the special coupon code DNA123

Yes, that IS recessionary pricing at its best.

This Show has "Shown" me its true value.......A sandwich at Cosi......minus the fulfillment of that Chicken Pesto and less the substance....Ahhh, PT would be proud of thee.....

See you there suckers!

The Sherpa Says: What an unbelievable scam. I am blown away at what our profession has allowed the hucksters in business to get away with....perhaps we are too busy being scared of what President Obama will do to our profession that we have forgotten to see the bigger picture. Or maybe we are too busy fighting for tenure and grants??? Either way, they have the advantage.

Thanks To Genome Web: The Challenge to Personalized Medicine

I have long thought about this and remain convinced that Personalized Medicine is the most powerful tool to improve patient outcomes. The paradigm is clear......

In an interview I gave to Berci Mesko at Scienceroll 

a while ago.....I made clear that there is a difference between personalized medicine and personalized genetics.

I know want to make another important distinction......until personal genomes can improve lives by altering current medical care or behaviors known to increase risk of disease, they remain NOT PERSONALIZED MEDICINE!!!

So they should not be lumped into the same category as Personalized Medicine.

They are what they are. Personal Genomics recreational testing.......Unless of course they are giving you data about disease, but that of course is a different animal....

So when I read GenomeWeb today pointing out a post of mine. Thanks BTW....

I am in awe of what is going on.

Basically you have scientists arguing over the "statistical" without clinical.....

This amounts to quants in a 100 story building in Manhattan arguing about Re-Insurance of assets located in Topeka Kansas.....

This is precisely what got us into the financial mess we are in....

Who knows how things work? The people who do those things on a daily basis? Who "thinks" they know how things work? The people who "created" those statistical things....

Who is right? Well in this case the pragmatic answer is this......

Find a test which replaces the current testing we do to identify risk.....prove it works and then deploy it.....

In the current GenoHype Schema, what we have is backwards..........We deploy tests which haven't been proven to work OR replace current testing for risk stratification.....And hope to hell someone proves them to be correct. But when they are disproven (is that a word?), we write letters to the editor attempting to tear apart the research...In Futility...........

I hope you get my point......DTC Genomics has created a Personalized Medicine Bubble which is set to pop because of overhyped promises......

Francis Collins' statement that "the worst thing we could do for personalized medicine is oversell its promise" is now coming true and the Quants from Biotech may fall just as hard as those from Finance.......

The Sherpa Says: Personalized Consumer Genomics is for recreation. Personalized Medicine IS for Medicine......Let's not mix the 2 please.......

RIP Richard Grasso

Yes,

Richard Grasso. No not Dick Grasso. Rich Grasso, a good friend and uncle died Thursday. Since then I have been struggling to find meaning in what I do.

My Uncle, well, my uncle-in-law, was one heck of a guy who lived life to the fullest. He had so many friends. I remember meeting "The Family" when I was dating my wife and how scared I was......Richard said, don't sweat it, we don't bite......except for Nanny.

He always had a way of making me feel warm and loved. He gave the best hugs and always gave great advice. Unfortunately, he died because he forgot to do one simple thing. He forgot to wear his seat belt. He was thrown from his car and that's what killed him.

It seems to me, after this swine flu thing and now with my uncle.....all of this overbloated hype about genomes saving the world.......is a little too much.

If you look at the fatalities data in 2008 it is crystal clear that the people getting their genomes scanned should pay more attention to whether they are driving safely and buckling up rather than spitting up. Sure we are reducing the rate, but how many really have to die?

Not to say that genomes aren't worthy of study. They are. But Today I want to make sure that each and every reader of this blog, buckles up when they drive. That they forget about using the cell phone in the care. That they decide not to cut off that other driver.........or just stop rushing to beat the light.....

If we all just did that for one day, we could save more lives than any amount of genome scans could......

The Sherpa Says: God Rest Richard Grasso, please learn from his mistake. Drive safely, drive as if getting there late mattered less than getting there alive.......

Lots to recap today.

First, in support of Francis Collins' efforts. I am a God believing scientist/physician. Why? Can you explain "spooky science" of photons? No? Are there some things in this world which are a mystery? Yes. I choose God to explain that mystery for me.

Because as a human it is beyond my ability to conceive of it. Maybe someday Singularity will "save me" but I doubt it.

Second, To explain Germany's move without resorting to "It's designed to make doctors money"

Which BTW is the stupidest argument I have ever heard coming from a country with Nationalized Medicine. Doctors make what they make and that's all. Why try to find new revenue streams for someone who's salary is capped? Do they really think this would bring Doctors to their country? Wrong!

Here's why they are outlawing this and why comparative effectiveness research in the US will end up costing some useful therapies their market.

Think that the person is not an individual, instead it is a money making machine for the largest company in your country. The government. The government makes its money through taxes.....it expends its capital supporting people who aren't so good at paying taxes as well as a whole host of other things, like defending you from nasty people looking to destroy your way of life. Why do they support those who don't have jobs and aren't healthy? They do this in hopes to get them stable enough to pay taxes again. Thus a new revenue stream is created.

If they can keep you healthy so you pay taxes, that is a big win. If they can do that with minimal amount of cost, that is a huge win. So when the government, which controls the doctors in a Nationalized Healthcare Country BTW, sees a demand for a test, which has unproven benefit and is likely to increase demand for further healthcare services: "I have a 9p21.3 SNP and now I think I have chest pain"........They look for ways to stem the tide of this cost.

Thus they expend less to keep you as healthy as physicians are scientifically capable of doing TODAY......maybe someday this testing will be clinically useful....but not yet. At least not for most of it.

In fact, I chuckled when 23andME went to Davos to woo, Europeans. Their healthcare is even more pragmatic than ours in the US. So this move by Germany is aimed at stemming costs not to make more money for doctors.......Which BTW, if everyone was acting on this SNP info, we would have a ton more procedures.....which would in the end make more money for MDs in the US.....which is why this whole, gatekeeper business is about the most ignorant argument I have ever heard......

Lastly, Medicare has opted to not pay for CYP2C9 and VKORC1 testing for warfarin dosing. I am certain you may have read about it, but here's the spin......despite having good evidence behind its benefits, it wasn't ENOUGH benefit for the US Government to pay......Despite being ENOUGH for the FDA to put it on the box.....

Do you see where I am headed? Yes, despite an article in the New England Journal saying Comparative Effectiveness Research will be a good thing for Personalized Medicine(article to come out tomorrow), we may actually have the opposite effect. At least until the costs of sequencing comes down to less than a Chest Xray.

Ah yes, everyone would like to know that they get the Maximum Benefit to Cost ratio, but sometime you just have to ask yourself..........are leeches that much cheaper than phlebotomy? That is the problem with Comparative Effectiveness when you put cost into the mix. Which is precisely what the government is paying for........Why wouldn't they? I just told you why they would be interested in this. I am interested in this. Who wouldn't be?

I guess the people who bid for the KNOME GENOME on Ebay, that's who....

The Sherpa Says: Congrats to the girls at 23andMe who managed to get listed on the same top beautiful people list an Sully. That is a PR feat, to get them listed alongside someone who actually saved lives of people in a tremendously heroic feat........I hate marketing and fluff journalism! Shame on you Tonic....You actually listed them ABOVE Sully! Maybe that's why MDV Divested from 23andME.

Dr Topol, I agree with you. Patient empowerment is key.

Dr. Topol, who like myself is involved in a Cohort analysis of SNP scans and their effects on health behaviors has a video blog post about the recent Bad Press that SNP scans have gotten.

More importantly, the bad press that DTC genomic companies have gotten. For full disclosure, I am not affiliated with ANY of the DTC SNP scan companies BTW, CPMC was the first study of this kind, not Scripps.

Dr Topol says that there are articles which were published in the NEJM and they were reviewed by me a week or so ago......These articles obviously have caused "consternation"

He states that he approaches this from several perspectives and addresses his research.

There is the "Nihilistic Approach" that if you have an OR of 2 or greater that it is likely that this risk science is not going to go away and he asks "When is the right time to have this information?"

He says there is no real answer to this. And that there needs to be more research on missing hereditary components.....

Then he says he has the "By having this information and Empowering patients, you help them" approach

"That may be a good thing"

Well, here's my take. There are several different data points which are much more predictive, powerful AND CLINICALLY VALIDATED than these SNP scans which can cost upwards of 2500 USD. Let's see....how about Blood pressure? Body Mass Index? CRP? Family History?

The Whole Genome SNP scan is for research, not a business plan, not for clinical medicine.........or for a Venture Investment.

The Sherpa Says: By empowering patients, we help prevent disease. But by telling patients information that may be proven wrong tomorrow, I am not so sure that helps establish patient rapport. Encouraging patients to go out and spend 2500 USD in this economy on something that is relatively useless is the specialty of silver tongued salesmen and marketers like Bernie Madoff. Isn't that what got all of us into this economic disaster in the first place????

Personal Health Record, Vital to Personalized Medicine

I am a huge proponent of Personal Health Records. What is a PHR? Let me first tell you what a PHR is not.

A PHR is Not

1. An electronic medical record

2. An always secure way to store your health information

3. Always compatible with other software.

I admitted a woman the other day to the hospital. She wasn't a patient of ours at Helix Health of Connecticut of CT, instead she was a patient of a group who we were covering. In the ED she handed me 7 pages of (typed in Times New Roman as a Word .doc), her Health Records. It didn't have lab values nor did it have all the exact results of the studies which she had. Instead this was HER record of everything that had happened to HER medically. It was written through HER interpretation, misspellings and all.

I wondered how long it took her to compile this information. I imagine it must have been at least a few days work, if not more. It was fairly accurate, but failed to precisely capture the data that I as a doctor was looking for.

This was her own creation.

There exist many of these companies on the internet today. You can order your PHR through a company or through Google. Although, with the security problems that Google has been having lately, I imagine perhaps a record stored on your USB may be superior......Maybe.....I am not certian about that.

I began to wonder, has anyone done any academic study on which way is the best to have your records? Just then, the weekly copy of the New England Journal of Medicine pops up in my mailbox.

In it was an editorial entitled-

"Your Doctor's Office or the Internet? Two Paths to Personal Health Records"

In the article, they talk about several topics which are salient and ask very important questions, which I hope someone will answer. They talk about a patient named Mary, a patient who is on multiple medications for her 4 chronic conditions.

1. As the baby boomers age and develop chronic diseases, the gap between patients' desire for information and physicians' ability to provide it is likely to increase. How will this gap be filled?

2. What if Mary could view her test results within hours after her blood was drawn? What would she do with the results*?(*is my question)

3. Unlike the stand-alone models, integrated PHRs are essentially portals into the EHRs of patients' health care providers. Is that important*? (*is my question)

4. Microsoft says it will seek patients' consent before sharing data with third parties, but none of these application suppliers are covered by HIPAA. Is that important*? (*is my question) what about CCHIT??

Here is my take. Well, before that let me clarify my stance on tech and health. Many feel that I am a detractor towards patient empowerment in this space simply because of my railing against DTC genomic companies.

This is simply untrue. I am a big supporter of PHRs and EMRs and patient controlled data. In fact I have advised several PHR companies on this and have even worked with an EMR company to find a way to amend its PHR applications.

This space IS the key to personalized medicine. Why? Well, for one, you are giving patients clinically meaningful data AND a plan to act on it. You are sharing responsibility for data gathering of information which has been PROVEN to be clinically useful.

You are not confusing your patients with stuff that likely won't matter in the end. Nor will it have close to the meaning of a good family history. Which is why Ancestry companies would be really smart to start working in this space.

The Sherpa Says: In the end, everyone will have a PHR. And in the end everyone will have a genome scan. Which will come first may well be a result of needing the other. Which will make more of an impact on health and wellness? Well, that's easy. The PHR.

The Sherpa is Right! DNADirect moves into the clinical space.

As if my conjectures weren't enough, it seems to me that the DTC genomics space is proving my theories to be correct. It turns out that the real value is in providing analysis of the genetic material, NOT testing itself. When you start giving interpretation, you begin to incur regulations that were not applied to those labs who are doing the tests.

It turns out, people don't like buying genetic tests online. In fact, one of the oldest DTC genetic testing company is NOW turning into a genetic counseling resource service.

According to the DNADirect site:

DNA Direct can help your physician practice or medical center meet this challenge by providing access to genetic expertise that can be seamlessly integrated into patient care.

It turns out that this was one of the things we did at Helix Health of Connecticut of CT about a year ago. We sat a CGC down in a busy IM practice and hoped that they would share and learn from each other. We also hoped it would lead to more referrals.

It didn't lead to too many more referrals, but it did bring the doctors up to some sort of speed. I think this is DNADirect's attempt to get physicians comfortable with genetics and I commend them for this. But I also know that they are in discussions with insurance providers to offer genetic counseling services for Insurers......much in the same light as my friend Heather Shappell.

Here's what I think. The DTC Companies will all evolve in some aspect towards providing professional services. Navigenics does, deCode is moving in this direction and NOW DNADirect is moving into this space. So much so that they are seeking out insurers to provide these services......In fact based on what I am reading they are looking to serve as a "dial a genetic counselor" for regular physicians in everyday practice.

I have thought about providing this service too, but you see physicians actually have a limitation that genetic counselors don't. Physicians have to be licensed in each and every state that they provide medical care......EVEN Telegentics care.....

Counselors don't. I think this is a good thing for counselors, but a bad thing for Pharmacogenomics and Common Adult Disease Genetics. Maybe, this is the out for 23andME????

Or maybe they (23andMe) will continue to deny that they are providing genetics services..........

You see, Heather had pioneered TeleGenetic Services for Cancer genetics at her company "Informed Medical Decisions"

She landed a contract with Aetna and is looking at more third party providers.....

This is a key to expanding our services. Most providers are unaware of OR improperly use genetic testing to aid health services. If you can land in every physicians office with a warm voice and some key skills, it would be very useful........rather than some discussion boards where voodoo medicine and medical misinformation is passed between patient and patient.

That being said, BRCA testing seems to be easily integrated in Internal Medicine services according to recent analysis.....so maybe doctors are starting to get at least one part of it......

What amazes me about 23andME is that a lot of their discussion boards are not proctored by healthcare providers to correct misinformation. This inevitably results in a 17 year old being scared of his prostate cancer risks and someone interjecting "Oh don't worry, more sex can help you prevent prostate cancer."

Is that really outsourcing medicine? Is that really democratizing knowledge? In my mind it is spreading misinformation under the guise of scientific authority.......

I do predict that the other DTC companies, good bad or ugly, will begin to follow Informed Medical Decisions and NOW DNADirect........which are becoming virtual extensions of things like our practice at Helix Health of Connecticut.

The Sherpa Says: Hey Dietrich, if you read this.....do you remember the "Apple Stores???" Ryan has been the leader here and it is clear......the services around the genome are the most valuable things............

23andME-"Genetic Counseling isn't Clinical Medicine"

Thanks to an amazing string of commentary on my blog, I think I get it.

Most of the 23andME users don't understand clinically what they are getting. It turns out, what they are getting is in essence unsupervised genetic counseling.

Vincent a commenter notes from my previous set of comments:

"In their actual report to customers, though, their language is much more sane.

E.g.Carrier for the 6174delT BRCA2 mutation.

Lifetime risk of breast cancer for women is increased from 13% to 85% and risk of ovarian cancer is increased from less than 2% to 23%.

May significantly increase risk of prostate cancer in men. There is also an increased risk for breast cancer in men.

That an accurate (as best as I can tell) statement of fact, and one that does not cross the line into the area of clinical diagnosis."

I then clue him into something he may not get and in fact I didn't get it until we talked about it.

SHERPA-"What you said is in their report is EXACTLY what a genetic counselor would tell their patient......."

Which prompts a reasonable conclusion by Vincent, which is absolutely incorrect. Why? Because we assume genetic counselors are autonomous units.

VINCENT-"A doctor or genetic counselor would take the conversation much further, however, and that is the key point I think. A licensed practitioner has the ability and obligation to go far beyond the purely statistical and into the truly clinical. Family history, behavioral factors, prevention options, treatment options, and so forth.

A company like 23andMe does not have that obligation, and it seems like that is part of what drives you bonkers."

He nailed it without realizing he did. When 23andME presents you this information in such a fashion, they are providing exactly how a genetic counselor would. They are probably painstakingly creating reports that are word for word what genetic counselors would deliver.

In addition, he double nails it. 23andME is providing genetic counseling while abdicating any of the clinical responsibility of putting that information out there. This is especially troublesome with highly penetrant tests, such as BRCA.

He triple nailed it by describing the argument 23andME will likely use

Our reports look like Genetic Counseling, But that's NOT Clinical Medicine/Genetics

I saw this attitude when I sat at a roundtable with Ryan Phelan of DNA Direct, Jeff Gulcher of deCode, Dietrich Stephan of Navigenics and Joanna Mountain of 23andME in San Francisco last June.

When asked "What if this genetic information changes? Who is responsible to notify customers/patients of this change?" What erupted was a slew of finger pointing at the table and Ryan Phelan saying "It would be nearly impossible to ask us to recontact customers with that change in information (rough quote)" Dietrich said "We have a subscription service that you pay for to get those updates" Mountain and Gulcher were silent.

But I grabbed the mic and said "If a physician orders a test and the results change, that physician is legally and morally obligated to report that change to you, at no cost and for the rest of the time that patient is under your care"

That is responsibilty. When I say there is a fundamental lack of willingness to accept this accountability at the highest levels, I mean it. I have seen what they have had to say, and they are left lacking.

Some may say, well 23andME is not practicing medicine. But I tell you, what they are delivering smells, looks and feels an awful lot like what any genetic counselor in any town in the United States, UNDER PHYSICIAN SUPERVISION, would be providing to PATIENTS who underwent BRCA testing.

So genetic counselors, if I haven't alienated you and you are still reading the Sherpa......Beware, 23andME is looking to replace you with reports. In addition, they are arguing that what you do isn't technically the practice of healthcare/medicine......

If you let them get away with this argument

1) Their will be a legal precedent which may ruin any argument your group has to be licensed

2) They will erode the patient trust bond with your patients

3) They will unltimately replace you and a physician will be using this service instead of consulting you.

This ball is now in NSGC's court. I hope you can do something about this, before it's too late.

The Sherpa Says: 23andMe's response "Yes our reports look like genetic counseling, but that's not clinical medicine......." Ouch.......

Personalized Genomics a Critical Review!

I just want to point everyone's attention to a great meeting that happened in December. I wish I could have been there. I still maintain to this day that Personalized Medicine does not equal personalized genomics.

In fact, in an interview I gave to Berci Mesko at Scienceroll, I talk about the differences between personalized medicine and personalized genetics. The scans are a tool we can use (maybe) for personalized medicine, just like all the other tools we have....

This meeting which was held by the CDC and NIH was for the sole purpose of reviewing Personal Genomics.

Purpose:

This 2-day workshop, cosponsored by CDC and NIH, explored the type of scientific foundation that is crucially needed to make the promise of personal genomics a reality. The workshop participants examined how the integration of genomics into personalized health can follow an evidence-based process. The process for using genomic applications in personalized healthcare (e.g. pharmacogenomics, early detection markers, testing in clinical trials) was discussed.

A few of my contemporaries were there and presented. I was excited to be able to see all of their slide sets out there. Thanks to Ken Offit for including my clinical presentations in there. We were certainly surprised at Helix Health of Connecticut to see such cases!

One of my favorite sets was by Dr Gregory Feero, a Family Practitioner and PhD who brings a primary care perspective to the group. He hit the nail on the head.

Excerpts from his slides

MD geneticists represent 0.18% of the 700,000 physicians in the U.S.

We identified only 1 RCT of a genetic testing intervention for a common condition that measured a clinical outcome -Scheuner JAMA

gizmo idolatry refers to the general implicit conviction that a more technological approach is intrinsically better than one that is less technological… Many gizmos make so much sense, in the absence of evidence or even the presence of evidence to the contrary, that their value or utility is persuasive prima facie."Leff and Finucane, "Gizmo Idolatry"

-JAMA, April 16, 2008

Finally, the industry pulls the veil back on how they calculate risk profiles.....imagine, someone sold the Venture Cap on some magical proprietary way to calculate risks.......

Well, here they are: Slides from the Big 3. They reveal how each one of them calculates risk......finally some transparency. Any VC who thought this was patentable/protectable is a sucker......It's medicine fellas!

At last I ask you to scroll back up the page and take a look at that slide. This slide is by Steve Teutsch, Chair of the SACGHS. That is where we are with Personal Genomics.....not personalized medicine mind you......Personal Genomics......

The Sherpa Says: Do you think the press has a case of Gizmo Idolatry????