I read with interest a twitter post by @Blaine_5 @Genomicslawyer and a few other of my friends.....

OK,

I unwrapped the NEJM this week and to my surprise it has a Lp(a) stuff in it. One of the things we do to prevent heart disease is take family histories. We also check cholesterol levels and include something called a Cardio-CRP. One thing we haven't been including is a Lp(a). Why? The only data I see that is good on this is on women.

Yes, That is correct. As if this stuff couldn't get any cheaper. It does.

"Happy, healthy holidays! Holiday offer: Our #genetic service for $499 (half off). Use code naviholiday2009 at checkout. http://bit.ly/roe95"

That straight from the mouths of the Navigenics Babes, Seriously. Do you know Katie Kihourany?

Everyone including Daniel MacArthur is yelping about the DeCodeMe free analysis offer, but I have yet to hear anyone screming about the 500 USD drop in price of Navigenics service. Ladies and Gentlemen, this is a 50% price cut.

In what world do you cut your service cost in half? This didn't even happen with the iPhone. Seriously?

This is a bad, bad sign coming from the team at Navigenics. Nearly a year ago they launched Annual Insight for 499.....Now the whole ship is up for 499........

I have yet to see how this market is the market for Whole Genome Testing. In fact, my assessment is that whole genome sequencing will not be used widely until it costs less than 300 USD.

Why? Can your genome data play crazy videos of Will Smith? What about making a phone call and downloading songs? No?

Well, what can a whole genome do for you? Good question. The iPhone wins because in it's ads it shows you what it can do......

These tests and the whole genome have not shown that utility. That's why they are cutting their costs.....because the can't show that they have use........

And that is precisely why deCode is offering its analysis service for free. They want to show you what they do........

The Sherpa Says: Like I said before, climbing Everest with one Crampon a windbreaker and a map is not what most rational people want to do......

"With breast cancer as an example, we examined the combined effect of uncertainties in population incidence rates, genotype frequency, effect sizes, and models of joint effects among genetic variants on lifetime risk estimates. We performed simulations to estimate lifetime breast cancer risk for carriers and noncarriers of genetic variants. We derived population-based cancer incidence rates from Surveillance, Epidemiology, and End Results (SEER) Program and comparative international data. We used data for non-Hispanic white women from 2003 to 2005. We derived genotype frequencies and effect sizes from published GWAS and meta-analyses. For a single genetic variant in FGFR2 gene (rs2981582), combination of uncertainty in these parameters produced risk estimates where upper and lower 95% simulation intervals differed by more than 3-fold. "

"Although there appears to be a clear relationship between UGT1A1 genotype and severe neutropenia (and some evidence of a relationship with severe diarrhea) there is no evidence to support or refute the hypothesis that a modified initial and/or subsequent dose of irinotecan will change the rate of these severe adverse drug reations." -EGAPP working group analysis of UGT1A1 testing

That is where most of personalized medicine (PM) is at today.

Why is this important? Because this precise clinical set of questions will be worked out over the next 10 years.

While I have been taking a break from posting some things have become crystallized.

The first thing: In an economic downturn, your genomic/PM product better have intrinsic value.
Chances are, if you have to have big celebrities and open bars to launch, you need to rethink the product.

The second thing: If you think you can take science to market in less than 5 years, then you need to do one of 3 things.
1. Immediately Cure Cancer
2. Prevent HIV infection
3. No, there are just 2 PM things that will work here.

Do I think there are products that don't involve direct basic science that will help personalize medicine which CAN go to market quicker than the 10 year revolution we are about to undergo?

Yes. But none involve PhD geneticists. They involve computer scientists, automation, email, etc.

This latest bubble of DTC Genomics existed just so the SV could cut their teeth on genetics for the big bite 5 years from now.

Why is the Sherpa such a naysayer?
I am not. I am a realist planning the ascent of the next tier.

That Tier is clinical utility. Yes we still have the missing heredity here. But let's say that will come in the next 5 years.....maybe We still have 5 to go.

Those 5 will be used for clinical studies, for outcome and guidance of therapies. But that is only the next tier.

Pragmatic physicians and scientists will demand replication, some will fail, ultimately casting doubt on the field as a whole.

This will further driving pragmatism and encourage naysayers.

Don't believe me. You have heard the new mammographic guidelines from USPSTF, right? Pragmatists have always said we don't need so many mammos....

Now so does Consumer Reports !!!

Many people place their trust in Consumer Reports. It is clear, they too see a case for overspending.

In an economic environment a savvy entrepreneur will look for targets like Asia.

As a doctor, I know most PM tools are on the horizon, so I pragmatically pick up my pen and pedigree.....

I am at my ICOB meeting today and am posting this from there. We will be going over several genes and variants. I am excited because OSUMC has now partnered with CPMC......there is no doubt this project will continue to grow in strength and importance as we have quite a cohort.

The Sherpa Says: Poor PM, attacks on every front. But don't worry, in the end, we win.

Remember this? From GenomeWeb

“After extensive fact-finding, consultation, and analysis, the committee found significant gaps in the US system of oversight of genetic testing that can lead to harms,” SACGHS states in the report. “The committee also identified novel opportunities that would enhance oversight.”

What are these novel opportunities to enhance oversight?

"As reported by Pharmacogenomics Reporter in February, the establishment of a mandatory, web-based registry for all laboratory-developed tests is one of the main vehicles the committee is proposing in order to improve how the federal government regulates genetic tests [see PGx Reporter 02-20-2008]. "

The 21st Meeting of SACGHS will occur in February of 2010. I wonder if this recommendation has gone on deaf ears. With all the turmoil surrounding health reform, will HHS take genetic test regulation up? One of 3 or 4 things may happen.

1. Health reform happens, billions flow into HHS and they form a committee to set the SACGHS recommended registry up.

2. Health reform happens, they are so busy that this gets queued.

3. Health reform doesn't happen. Nor does the Registry.

4. Health reform doesn't happen, thus the HHS has the time and attention to set up this registry.

But what I really want to know is: "Will the HHS including DTC genomic testing give these companies a perceived seal of approval?"

Better yet, will these companies be listed?

PWC has said Personalized Medicine will grow at 11% (How the hell they come up with that figure g-d only knows) Do I think DTC genomics will be included in the growth? Probably not. This type of testing will not grow until it is less than 100 USD.

The Sherpa Says: Like I said before, unless PM can cure cancer or prevent HIV it is likely to be difficult to sell. No matter how many meetings Harvard/Scripps/Etc has. What needs to happen is promotion of physicians (like my group) who are actually implementing PM.

I have been railing the last few days so I want to take a step back and examine what exactly is happening in the DTC Genomics space. (By no means an exhaustive list)

Navigenics-Partnering with a concierge medicine group of Internal Medicine physicians, convincing them to use an unvalidated genome scan to practice predictive medicine. Also using clinical language and inferring that this service can be used as such. Also with the new CEO who used to be a muckety muck at Humana Insurance company.........Hmmmmm, add in the PR hype of partnering with Harvard to Educate the pathology residents about microarray testing without the knowledge of Harvard's Clinical genetics teams.....and you have some pretty nefarious stuff going down here.....in the quiet light of day.

Pathway Genomics-Funded by the PayPal Mafia and the Napster Wunderkid split their services into clinical and ancestry. Got grilled at the Institutes of Medicine conference and basically had no good answer for why their service was not the practice of medicine........

23andME-Partnered with anyone they can get their hands on, recently split their service lines into ancestry or clinical OR both......They have had 2 rounds of layoffs, lost one of their founders, moved into the googleplex, have employees leaking info about them online, have cut software engineers and kept the PR/marketing people, pissed off the NYS attorney general and now changed prices AGAIN

TruGenetics-Couldn't find funding and are in holding pattern........who knows what that means. But they did prompt a brief legal review of what would happen if one of the DTC companies goes bankrupt or is sold......Basically, all bets are off and your data will likely be sold off without your consent.

Knome-George Church's vanity plate is still alive and kicking. Partnering with SeqWright and Beijing they are positioned to take care of the rest of the worlds billionaires.......until the price of genome analysis comes plummeting down........

Scientific Match-Still making matches one MHC group at a time.....luckily they don't test for medical conditions.....

DNADirect-Wow! Has Ryan managed to drive under this radar! I am so amazed at what DAN Direct has morphed into. They are in essence a medical practice who also directly competes with generation health on the GBM side. They are also serving as a telegenetics consultation service. In all honesty, DNADirect is the true bellwether here. They have been around since 2004 and have weathered all the shitstorms. Which means, many other companies are likely to follow suit, in a matter of years and at a matter of costs.

DeCode-What was their stock price again???

DNADynasty-Enough Said

There are others, but I think this is a good list to review and think about where they are in the life cycle of direct to consumer genetic testing.

The most interesting of these is DNA Direct. Ryan Phelan started out with a message of:

"You deserve direct access to your genes"

Then became, "We partner with doctors to give you the best care of your genes"

Now is that PLUS, "We help your insurer save money by directing how you pay for your genes"

What has occurred? Well, they saw the law, they also saw that they couldn't survive with just computer science engineers or marketing and PR folk.

Ryan saw that the real growth potential is in caring for people. Why is that important? Because genomic medicine is about medicine and people. Not stock photos and flashy websites.

She is right. I am always amazed by her prescience here. Despite my wailing about here over the years, she has come around to my side....

Will the other companies follow suit? One thing is for sure, Ryan isn't around just because she has raised lots of capital....

The Sherpa Says: I have been here climbing the personalized medicine mountain for a while now. I have seen 'em come and go, but Ryan is a seasoned climber. More of these companies would do better pay attention to her rather than silly price changes....

Today's lesson in start up business in the field of DTC Genomics is this.....

I recently read a Times blog post by Mark Henderson because it was referenced by Dan Vorhaus on Twitter. I have to say, I am blown away by the cognitive dissonance here......

entitled " The end of deCODE genetics: are you worried about who holds your DNA?" I was interested in to see whether this was a slash job on deCode or not.....

"Does this worry me? Not really. First of all, as Dr Stefansson pointed out to me yesterday, deCODE was a publicly traded company, listed on the NASDAQ. It was always up for sale, and in a manner of speaking its ownership was changing all the time."

Is he serious? Minor shareholders having access to a company's intellectual property and a hostile board takeover? That is what it would have taken to get the control.....or bankruptcy. Which is yet again another reason why a doctor would be able to protect this data better than a corporation.

Will there be any more doozies in this?

What I found was a hard pill for most to swallow. The end conclusion:

"What's more, though, I've yet to be convinced that there is anything particularly sensitive about an individual's genetic information. For the moment, at least, the sort of genotype data held by deCODEme isn't very useful to anybody other than me -- and even then, its chief value lies in satisfying my curiosity. I'd be much more worried if it was my financial data that was changing hands"

Ok, so here is the problem. Either you believe or you don't believe that your genome will hold useful information that may help predict your risk for disease.

If you do believe, then how could you not be scared about some discovery down the road that may be used against you by the "new owners" of your data?

If you don't believe it is a big deal, then why in the hell did you have the scan in the first place? To write a "news" story? Sorry, I mean PR piece......

In fact that's it. The people who bought these DTC tests were SV tech junkies and piss poor journalists who couldn't get anything else published. Now that they have all used up the story, there is no one left to buy decodeme.......et.al.

I do agree with the writer on one thing: There will be more failures. No amount of PR can fix that.

The Sherpa Says: Either you believe or you don't. For those who do, DeCode's failure should shake you. I am certainly glad I chose the IRB approved Coriell Personalized Medicine Collaborative to do my SNP scan.......

I just saw a family who had Long QT with a KCNQ1 mutation ripping through them. Which is why I loved this email I received from one of my long time readers the day after I saw them.

Is it any surprise that insurance companies have no clue what the hell is going on with genetic testing?

You see, there are a set of ICD9 codes that can mean 2C19 testing or hepatitis pcr........

The coding system doesn't allow the companies to run their algorithms accurately......

Insurers have no clue which is which and they are getting banged out for these tests.

Don't believe me, just take a look at what United has done with their BRCA testing (which BTW has their own codes)

"By instituting a prior notification policy and placing Myriad in charge of determining which patients get tested, United Healthcare can monitor more closely which of its policy holders are receiving testing on BRACAnalysis."

Add in the SGO guidelines which suggest a 5% BRCA carrier risk may be worthwhile and you can see why the companies are looking to stop the carnage or testing overuse.

Myriad on the other hand would beg to differ. They see years of under utilization as something to combat. And they are very successful at it, just check out MYGN.

The answer is somewhere in the middle. What is a responsible insurance company to do?

Answer: Generation Health.

What happens when genetic testing costs less than 100 bucks? Well, then maybe Generation Health will need to speak with me regarding a diversification company we are working on.....

With other PBM companies actively looking at new automated strategies for GBM (not glioblastoma multiforme) Generation Health is an interesting play.

I remember speaking with a certain player who also was involved with the DTC companies, who agreed with me. DTC is a bull$h!t play, benefits management of real testing, hyperlipids, HCM, etc are where the puck will be......From the Genome Web article (HT Turna Ray)

"The partnership will also “allow the companies to explore future programs in the medical diagnostics arena to encourage appropriate and cost-effective testing for certain hereditary diseases, and eliminate unnecessary testing where evidence for clinical validity and utility is lacking,” the collaboration partners said in a statement. "

We talked about this for some time (unnamed MD and myself) and then.....radio silence.......Only to show up with funding and some small hits.

They chose genetic counselors instead of my band of geneticists......

These guys are moving in the right direction. The industry is shaping up and guess what the killer app for genetic testing is?????

That's right, actual, honest, regulated medical testing........ Go figure.

Now, who gets what, how is it paid for, how is it used?

These are the questions that will need to be solved.

Until of course the accuracy and cost of a genome is less than 500 USD Which could be quite a while.

Meaning, Generation Health has about 10 years of life as the company it is right now. Not bad.

Imagine saving insurers millions per year, then taking 10-20% of those savings......... per year CVS/Caremark is a great partner and now owner/investor.........A very strategic investment.

My guess is that the DTC companies will fall in line or perish. Then labs will have to start marketing better, offer faster turnaround times and there will be "preferred" lab status.....per insurer.

Basically creating a super confusing land mine for physicians and patients. Just like radiology, just like surgery, just like chemo, just like......medicines

The Sherpa Says: Finally, corporations and investors are figuring out what IS important. Staying alive and having your medications work!!

"As I had postulated before, in order to move towards a profitable direction the DTC companies would have to choose "Medically Relevant" or "Novelty Testing" From this recent email sent to me by a reader it is clear, 23andME is Choosing to become a clinical service, without accepting the clinical responsibility."

This from my post February 14 2009

That was the day the announced that they were doing BRCA testing. Since then we have created a little video that may now be running through the silicon valley.........

Why?

Because, at the Spittoon (brrrrrrr-ding) they have announced that they will be splitting their service into 2 different types of tests

The first "A Novelty Test" which will be solely for ancestry.
23andMe Ancestry Edition – $399

The second "A health test" which will be solely for medicine while still disclaiming it is not. 23andMe Health Edition – $429

"With the launch of the 23andMe Health Edition we are releasing 13 new carrier status reports. These reports will help you know more about what may be in store for the next generation. We are expanding our cystic fibrosis panel report to cover the full panel of mutations recommended by the American College of Medical Genetics, as well as several additional mutations. We will also be providing data for most of the mutations routinely screened for in the Ashkenazi Jewish population, including those associated with Tay-Sachs disease, Canavan disease and Bloom’s syndrome.

We are also continuing to expand our drug response offerings. The next report to come out, Pseudocholinesterase Deficiency, contains information for anyone who will be undergoing surgery."

Ok, a couple of things.

First-This health test IS a MEDICAL test. I have sent off CF carrier screening medically, I have also sent off for Malignant Hyperthermia testing as well.........

Each has their own limitations which I have had to counsel patients about........For an hour a piece.

Second and more importantly, this appears to be another price change for the 23andME service.

If it turns out this company gets eaten up by Google, I am certain google will then own your genome scan data.....So I have one thing to say to the consumer

"If you want google to own your genome data, then by all means buy a 23andMe test"

Buyer beware here, please. I only ask and beg the proper authorities to uphold the current laws and regulate appropriately to protect the public health and welfare.

Why do I say this? Because a BRCA test or a CF carrier screen which was inappropriate that has been performed already on the public, without medical regulation, or without proper medical guidance could cause harm.

Lastly, this is likely a salvage play to keep the ancestry service before the feds come sweeping in......shut the medical service down.

I am certain.

Well, at least they (Feds and 23andSerge) have heard us........we only grow stronger because we are correct and hold to the theory that "What's Important IS What Is Important"

The Sherpa Says: Democratization is important, but so is not dying.......Why mix hair color with BRCA testing? I am glad Serge sees that too.......But now that leaves the health test as "Not for Fun" Looks like quite a change in defense of Mountain View's medical practice without doctors.....

Over the past day or so I have been engaged with one of my fiercest critics. No a critic of me per se, but a critic of my opinions in the space of Personalized Medicine.

So I was thinking about all of this hullabaloo and how Beth Israel Deaconess flipped the script by using non-clinically validated, non medical tests to teach residents about medical genetics.....

Yes, that is pretty freaking preposterous in and of itself, but I have a deeper concern.....

"Beth Israel has launched the Personalized Genomics and Next Generation Sequencing Training Program, which includes a series of lectures, discussions, and presentations, aimed at promoting a better understanding of the personalized genomics field and next-generation sequencing technologies."

Ok, so my question is. Who will be giving the lectures?

Let me put this another way.....

"NewsFlash" (This is not true, however it is just as preposterous and written to illustrate a point)

Harvard Medical School has agreed to partner with Pfizer to educate young resident physicians about pharmacology.

Residents will receive a series of lectures crafted by Pfizer to help physicians understand the complexities of pharmacology. To help the young physicians a pharmaceutical specialist employed by Pfizer will take the residents out to dinner and give lectures crafted by Pfizer.

To further enhance the training, all physicians will be given free samples of viagra/modafinil to help them understand how the medication works

"We believe that pharmacology and pharmacogenetics will be critical to the future of health care," Mark Boguski, of BIDMC's Department of Pathology and the Center for Biomedical Informatics at Harvard Medical School, said in a statement.

"Training our residents on the leading pharmaceutical services and technologies will be essential to this future."

(End Fake Story)

Do you get what I am saying yet, or are you such a blind supporter of DTC genomics to see the absolutely clear freaking conflict of interests here?

And for such a school which focuses so much on Conflicts of Interest, I am blown away that this program has not yet been shut down.....

You can email Mark Boguski at mark_boguski@hms.harvard.edu if you think this is as crazy as I do. Or maybe a phone call? 617-432-7375

The Sherpa Says: Do you see what I am getting at Mark? This is sketchy at best....

I love and hate when GenomeWeb scoops me. I love it because I know someone else is out there assessing the field. But the competitive nature in me hates to be scooped......ah well, you can't win them all.

It turns out that Good 'Ol Dr. Rob and I agree, physician education is the key to get physicians involved in clinically important PGX testing.

Not only is education key, but maybe involving them in research about it may even be better.

A survey conducted by Dr. Rob's Team at MedCo and AMA just published at ASHG says so too.

"The survey, which was conducted in 2008, found that 13 percent of doctors had either ordered or recommended pharmacogenomic tests for their patients in the preceding six months"

That is about spot on as to what I told them about how many would be ordering tests immediately.

"There is a general lack of formalized pharmacogenomics training among physicians, the survey found, with 26 percent of respondents saying that they had received some form of education in the subject either in medical school or after graduation."

I taught pharmacogenomics to Yale and Yale Affiliated residents from 2007-09. I know that the ones who have learned are now actively looking up and interested in this stuff.

"98 percent of these physicians agreed that patient genetic profiles may influence drug therapy"

Obviously, they took pharmacology, the GET pharmacogenomics. It is not a big leap here!

"It's clear that there is wide acceptance that genetic testing has a role in patient care, but the need for formal training and education among physicians is necessary to obtain greater adoption and implementation of these tests in clinical practice. -Robert Epstein MD"

Precisely Dr. Rob, Precisely. No big surprise with the survey. But a big surprise in my mailbox......

Yes, a CYP2C19 study spit kit. MedCo is studying Effient vs Plavix with CYP2C19 testing, head to head.......

BooYah!! I just spoke with the Effient people the other day. They are keen on taking this market.

Now I just happen to be working on something that all of these interested and willing physicians will need.........

The Sherpa Says: Dr. Rob, I hope you are listening........It's time to execute.

In 2007 I diagnosed a 74 year old woman with CF.

She had a positive sweat test and positive mutation with an intronic mutation as well.

I investigated this after she had bronchiectasis and no history of smoking. And a grandson with CF......... Why did I do the sweat test?
I needed to know if her bronchiectasis was due to CFTR mutations. Maybe she didn't need COPD treatment after all.

That same intellectual curiosity is found in a recent study in the NEJM. It turns out they are finding some patients who have Gaucher's also have Parkinson's Disease.

What's even more interesting is that Heterzygotes for Gaucher's are at increased risk of sporadic or familial Parkinson's disease. So one has to wonder, how many Parkinon's cases are due to GBA mutations.....

Well, this study aimed to elucidate that. First off, if the GBA mutations are higher than LRRK2, well, we my have another Ashkenazi Jewish disease.

What did these guys do?

5691 patients with Parkinson's disease (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews) were analyzed, with multivariate logistic-regression models and the Mantel–Haenszel procedure used to estimate odds ratios across centers. Ok, a reasonable method.

Now what did they find?

This finding allows for confidence in reporting the Mantel–Haenszel combined odds ratios for N370S (odds ratio, 3.96; 95% confidence interval [CI], 2.60 to 6.02) and L444P (odds ratio, 6.73; 95% CI, 4.50 to 15.42). After correcting for outliers they can confidently report a Mantel–Haenszel odds ratio of 5.43 for GBA mutations, in patients versus controls Ok, so if you have either of these mutations, you are at a pretty high risk for Parkinson's Disease. Seriously. How many of the Parkinson's cases are due to this type of carrier mutation? Overall, when screening solely for N370S and L444P, one of these two mutations was found in 15% of Ashkenazi Jewish patients as compared with 3% of Ashkenazi Jewish controls and in 3% of non–Ashkenazi Jewish patients as compared with less than 1% of non–Ashkenazi Jewish controls That's a lot of cases.

Way more than the LRRK2 mutation Familial Autosomal Dominant disease that could be counseled by pedigree alone that Serge was so hepped up about.

But if you want a breakdown of LRRK2 versus GBA you can read about it here.

Of note, there are very few papers comparing both, but there is one that disproved my hypothesis that it is likely that the LRRK2's actually are GBA mutation carriers.... But 37 Families still gives me a little hope that Serge was focused on the WRONG gene...

Back to GBA mutation carriers, this like CF now has me asking "Does anyone in your family have a genetic disease like Gaucher's" when I see some PD history.

Which highlights a significant point, if Primary Care Doctors are supposed to perform family histories, then how in the hell are they supposed to know about this?

The answer: This NEJM article? Navigenics? Who? How?

Unfortunately, most Internists will look at the article and say "Meh, another one of those genetics articles I don't understand" Will giving each doctor a FREE Navigenics test break that attitude......doubtful.

The Sherpa Says: Geneticists need to do their job and teach other doctors, not serve on DTC genomics boards.

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.

Last week I was criticized harshly about the shock and awe I used with the picture of a parasite being passed from an animal and comparing it to what needs to be done with DTC Genome Scans.

I was asked to be critical and analyze the work. And frankly, I am a little embarrassed. That doesn't mean I will take down the post. It means I will begin to state the rationale for my argument.

The premise is this, DTC Genomics has cast a shadow on the field of genetics and genomics. In not only the clinical utility but also the scientific utility, this boondoggle has screwed the field. The community had been seduced by receiving offers of "Advisorship" for "The Next Google" or whatever the pitch was.

A few smart people bit, including George Church, who I think was hurt the most. His PGP received less attention and less gravitas as it was lumped in with 23andSerge and Navigenics cocktail parties in SoHo......

I said this back in 2007 when I had coffee with Amy Harmon, prior to her Pulitzer . She asked me why I was against this DTC movement. Well, unlike then I have thought about this for a while now.

The singular reason is: "The marketing and promotion of these services has caused a tremendous amount of confusion as to what exactly is important"

????

"You don't mean your rant about how this is medicine and should be regulated as such?"

Well, that is an issue of importance. They have been playing important, just like a TV doctor would.

"You don't mean the issue where they steal your genome?" Well, again, they may be confusing what is important in the genome and making you think their 500k SNP analysis IS important.....

"You don't mean the rant about how doctors confuse Personalized Medicine with DTC Genomics?"

Again, this is an issue about what is important and what is not.

Detracting attention from that which is important is probably the biggest crime that is being committed here. What we are now going to see is a phase of skepticism drawn to the whole field of genomics. Don't believe me? Read here

"As scientists including Venter aim to usher in an era of personalized medicine based on individuals’ biological differences, companies such as 23andMe and Navigenics already offer tests that plumb people’s genetic makeup. The article’s authors said “the nascent industry” could improve predictions by developing a consensus on how to do the analyses."

So I ask, "Is the nascent industry personalized medicine? Or is it 23andME and Navigenics?"

By lumping Personalized Medicine with these companies, you begin to take on their traits......

"Google-Backed DNA testers Don't always agree"

Ok, so now personalized medicine is Google Backed and the results are sketchy at best.......

Do you see what I mean?

Don't believe me? Read This
The Journal? Personalized Medicine. the Article? DTC Genomics......

I hope you see what I am getting at. Still having a hard time?

Take David Agus' MD Quote

"Make preventative genomic medicine part of your practice"

Meaning: Use Navigenics DTC Genomics test and you will be practicing "preventative genomic medicine" The new Marketing Word for "Personalized Medicine"

So, there ya go. They want to be personalized medicine, yet disclaim any use of the test for personalized medicine.

This huge circus is one of the biggest distractions to ever befall Personalized Medicine, especially as the story of the epigenome begins to unfold.

We have to ask ourselves
1. "What was gained by supporting these companies?"
2. "What did these companies do to advance personalized medicine?"
3. "What researcher gained greater attention or funding because of the DTC Genomic Buzz?"
4. "What percentage of physicians gained greater appreciation of genomic medicine?"

IMHO, these companies have mad a mockery of personalized medicine and the research that is going on in the space

The Sherpa Says: Hopefully that will explain why I feel that these companies are parasites playing off of our name.....