No more 23andMe blog posts. The Sherpa has achieved his goals.

I am absolutely done talking about 23andMe.

Yes, you have heard correctly.

That doesn't mean I will stop watching what they are doing.

It means that I have coerced them into doing what's right. For now.

From the very beginning 23andMe had potential, heck Dr. Jeremiah Mahoney told me they came up to Yale to see them.

They must have not liked what Yale said, because they went further up the line and partnered with George Church.

Well, they def. didn't like what I had to say.

I had even conjectured about DTCG and what this landscape may look like and even warn about the shortcomings,
I had been pointing all of you to SACGHS to watch where this regulatory environment may go. The environment was heated with these companies going in.

So I knew I had to pay attention to what they were doing, especially the Google Backed company.....

First when these companies launch

1. I immediately point out 23andMe isn't using a CLIA certified lab which gives me grave concern over the seriousness with which they are doing testing. A-la Garage lab versus proper human sample processing.

2. I complain on Daniel MacArthur's blog about the obvious rookie blunder this company with no healthcare experience in leadership makes

Then 23andMe uses a CLIA certified lab

Second, I tell you that the states who have serious laws against DTC will shut down these companies quickly

Then they shut 'em down for a bit. And I gloat


Third

1. I complain that FDA needs to get their act together and in 2009 23andMe began doing absolute truly clinical testing with BRCA testing.

2. I point out the SACGHS feels the same way too and also complains to the FDA

3. I point out that 23andMe has no clinical clue what they are doing with PGx

Guess what? The FDA finally rules for regulation.

Lastly,

1. I complain about this research revolution akin to Tuskegee or other non IRB approved "research"

2. I point out that Google has off shore servers to hold this data free of US regulation.

3. I say that they are coercing subjects and offering discounts that wouldn't fly in an IRB

Today, they announce they have obtained IRB approval.

But I have my doubts as they have flaunted loopholes in laws And seem to point that out again today, or at least their blogger does.....

"our research technically does not require IRB review."

So I guess I will have to keep posting until these guys stop skirting lines..............Nevermind

The Sherpa Says: Yes, why keep it up if they did what I asked? Because they will do it again, even if it takes an act of Congress. Why do I ask? To protect the patient and consumer from mega corporations whose interest is anything but patient empowerment.

Ok, Spam Botted! Prasugrel PLUS 2C19 PM has better outcome.

Alright, so I just found out that I posted a spam bot post. Not from a nice student named Ashley.

Instead what I will post is a subgroup analysis of TRITON TIMI 38. The subgroup analysis? 2C19 PMs and Prasugrel.

Great clinical question-Did the PMs (poor metabolizers) on Prasugrel fare better than the PMs on Plavix.

The obvious answer:
Duh, of course yes.

But Always we need some science and statistics here.

Individuals with a CYP2C19 reduced-metabolizer genotype were estimated to have a substantial reduction in the risk of the composite primary outcome (cardiovascular death, myocardial infarction or stroke) with prasugrel compared to clopidogrel (relative risk 0.57; 95% confidence interval [CI], 0.39 to 0.83).

Ok, so we should screen for PMs? Probably.

What about every other result?

What about the EMs?

For CYP2C19 extensive-metabolizers (EM) ( approximately 70% of the population), however, the composite outcome risks with prasugrel and clopidogrel were not substantially different (relative risk 0.98; 95% CI, 0.80 to 1.20).

The Sherpa Says: We should AT LEAST be identifying the PMs and placing them on Prasugrel. This subgroup analysis shows increased risk while on Plavix. Primum Non Nocere.

Answer to GenomicsLawyer's Question. What the FDA will do with DTCG.

Dan Vorhaus JD on his blog says "The path of least resistance may be to simply agree with the FDA....The viability will depend on how the FDA intends to categorize the specific product...."

I agree, these companies have big choices to make. If it is any indication, Counsyl (full of smart people) and now, Pathway Genomics (full of smart people) have both decided to go the route of Medical test.

Perhaps it is because they think the burden will cost less to investors than fighting the "Man"

Well, in guessing what the FDA will do, it is always best to see what they have done to a "similar" product. In this case, they have a great product that is very similar. That would be the FDA's approval of AmpliChip.

A friend of mine in Canada argues about the holes in this platform, but unfortunately it is the only FDA approved platform.

You can read the letter for the FDA approval here

This was cleared in 2005! I wonder if the DTCG companies ever looked at AmpliChip as a model before?

In the letter it is clear, microarray technology used for drug metabolism prediction is considered a Class II medical device. The letter indicated that this applied not only to AmpliChip, but also to similar devices.

It also does not waive premarket submission.

Both of these are very important points in how the DTCG groups evaluate their future business models and potential market.

The Sherpa Says: Why Conjecture? Just look at what the FDA decided for AmpliChip. It will be a similar template.

I am glad we can all put this behind us. FDA rules on DTCG.

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.

The Sherpa Says: If we work together, we can deliver the best preventative and personalized care in the world!

Cellulite On Your Bod? Blame your genes! Or market 'em!

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?

DTC Genomics adjusts for regulations. 23andCGC?

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......

5 Days after the Quake Critique

I want to know, when everyone got all upset with my review of the Quake paper and bashed me on this blog. Why?

Why did no one post on the Viewpoint put out in The Lancet exactly 5 days after my review?

What did my review say? You can read my analysis of the Quake Paper here.

I will keep this brief, as I will be speaking precisely on this topic on Thursday at the Consumer Genomics Conference.

Maybe no one read the viewpoint?

Today I was able to read the

"Challenges in the clinical application of whole genome sequencing" Viewpoint from Ormond et.al.

It echoes every single thing I have been saying for the last 2 years. Not that any of this is news for those of us in "the know" But it is confirmation that people who include a DIRECT Advisor to 23andMe agree with my stance.

However, there are some things in the paper that I disagree with.

1. "The author assumes that because of the rapidity of cost decline with WGS (whole genome sequencing), that it will be used more and more in Medicine."

I disagree.

Payors, Clinical validity and Exposure to malpractice risk will determine the uptake in the clinic

2. "Reduced sequencing costs seem likely to cause a rise in WGS"

I disagree.

Perhaps in research this will be the case, but for customers, who are now staring down the barrel of an FDA investigation, House of Reps investigation, they may think twice. No matter what Oprah has to say.

3. "even if that information averaged only 3 min per disorder, this process would take more than 5 hours of direct patient contact, after many hours of background research"

I disagree.

The average time per disorder would be at least twice that, meaning ten hours of direct patient care. Which on my clock is about 4000 USD, at least.

4. "As academics, we often assume that information is good and more information is better. but more information can sometimes be counterproductive"

I agree whole heartedly.

I know many excellent academicians who say "Garbage in, Garbage out" or "Information is just that, but Noise is Garbage"

The Sherpa Says: We need to bite things off a piece at a time. That is the problem with whole genomes. People will need to be revealed information in a staged fashion WITH SKILLED CLINICIANS. Nice to see Russ B Altman MD et.al., advisor to 23andMe agree with what I have been saying over the last 3 years now.