Is it true?

Did Anne really dump Linda for Google?

Inquiring minds want to know.

I am looking forward to the next couple of weeks out of the DTC Genomics community.

IMHO, they were not that impressive at the IOM/National Academies meeting.

In fact, I came away with some significant questions which I am certaim the IOM will have as well.


First and foremost, "Tell me why you aren't practicing medicine"

No one here wants to stifle progress. But we don't think you need to break a dozen eggs before you get your omelette.

You would figure someone who had gotten a seat on the Board of the Foundation for the National Institutes of Health would have figured that one out.

Yes, that is correct.

She sits on the foundation board for the NIH!!!!

Once again I am amazed!

My Hypothesis is this.

Francis Collins has never come out abashedly against this type of testing. Why? He needs a Phenome Genome Metabolome study that can be run via the web. He is friends with Kari Stefansson, who knows how to do this. And NOW it appears Anne is on his Foundation's board. What a seriously crazy coincidence............

I do wonder what it takes to sit on that Board. My guess is that you have to have billions of dollars.

Because that is about all she has. B.S. from Yale (yeah, that and a 2.50 will get you a cup of joe), Company founded by her with her husbands money. But it is notable, that this young woman wields quite a bit of power now.

My guess, 23andme Francis and the NIH will sponsor the largest personalized medicine project to challenge the Coriell Personalized Medicine Collaborative.

Barack Obama will need a good will piece like this to erase the banter of health care and it will make everyone see how future oriented he is.

23andSergey win by getting access to the data, NIH wins by leveraging a huge tool which previously had stunted most large cohort studies, President Obama wins by changing the topic to something a little less controvesial (Unless you are an Eschatologist.....)

This will probably be announced in under a year.

The Sherpa Says: Yes 23andSergey, Drew was right, you will probably outlast all others because of your shear wealth. That doesn't make it right, or ethical, but in Washington it is what it is........

First Mari, Now Linda. Who's next?

First,

I wish Linda Avey all the best, eve though she stared me down in 2007 like I was some pariah doing awful things screwing up her plans for world domination.......

Second,
I wanted to point out that this is the second Woman CEO to "step down" to do other things in the personal genomics space.

The last was replaced by some guy named Lord.

I wonder if 23andME will get a guy named Jesus?

The public scoop From Kara Swisher Linda's email to the 23andme drones.

"I’m leaving 23andMe and have begun making plans for the creation of a foundation dedicated to the study of this disorder. The foundation will leverage the research platform we’ve built at 23andMe–the goal is to drive the formation of the world’s largest community of individuals with a family history of Alzheimer’s, empower them with their genetic information and track their brain health using state-of-the-art tools. We’ve always planned to include Alzheimer’s in our 23andWe research mission…I’m just approaching it from a new angle."

It is becoming more clear.

With Linda gone, Google can now buy 23andMe.

Maybe make it a Google App???

Interesting, but it is with Anne's email that I am most curious......

"In the weeks ahead, we will outline a strategy for the company that we believe will make genetics a routine part of health care and will lead us to making significant research discoveries."

Holy Sh!t Google has found a way to do a 20 year cohort study in less than a month! Maybe the also have found a way to brainwash physicians into performing these tests? Have they partnered with Obama to have everyone spit in a cup with their census data and get barcode tattoos with their genomes linked to a central database at flag@whitehouse.gov or maybe BRAVENEWWORLD@Whitehouse.gov?

The Sherpa Says: Buh Bye Linda.......Hey Mari, how's that video game thing going? Well, She says the magic words "Build Physician Sales Channels" Must be Navigenics sees the reality of the market.

Why DTC Genomics IS Medicine.

I think I have argued this logic several times but perhaps have not sharpened it to the level this need to be.

DTC Genomic/Genetic testing is not medicine. That is the claim.

The answer as to why not?

"It is not intended to diagnose or treat any condition."

Yes, that is the infamous vitamin line.........

Does it work with DTC Genomics? No.

Why? We need to deconstruct the word "intended"

What is Intent? Legally, I mean. It has a few definitions.

Let's look

"The determination or resolve to do a certain thing, or the state of mind with which something is done."

Make you wonder what state of mind means.....

Another definition and explanation of intent

Intent is a mental attitude with which an individual acts, and therefore it cannot ordinarily be directly proved but must be inferred from surrounding facts and circumstances. Intent refers only to the state of mind with which the act is done or omitted.

So this has all the hallmarks of building a case for intent.

Just because you say you "don't intend" doesn't mean you do not.

You have to examine the facts here to see the mental attitude of those who are doing the act.

In this case The Sherpa Vs. 23andSergey Sherpa alleges that 23andSergey's intent is to "diagnose or treat"

His facts are:

23andSergey tests human biologic samples for BRCA mutations.
Mutations in BRCA create a medical condition known as "Genetic Susceptibility to Malignancy of the Breast"
It is coded in the International Classification of Disease under the V84.01

23andSergey reports acknowledge this and report this result to their customers.

The specific language of what they test is as follows
Breast/Ovarian Cancer is one of the conditions that 23andMe analyzes. Our service includes the following information:

• Whether or not you are a carrier for several mutations linked to breast/ovarian cancer risk.
• Information on 185delAG, 5382insC and 6174delT, three of the most common among hundreds of mutations in the BRCA1 and BRCA2 genes that influence risk for Breast/Ovarian Cancer.
• Background information on Breast/Ovarian Cancer and a list of counselors, links and support groups in your area.

It goes on further to state:

"The genotyping services of 23andMe are performed in LabCorp's CLIA-registered laboratory. The results presented in Health and Traits have not been cleared or approved by the FDA but have been analytically validated according to CLIA standards."

CLIA is an acronym for: Clinical Laboratory Improvement Amendments.

These amendments apply to Clinical Laboratories ONLY.

Why would a company need CLIA to test samples if the INTENT was not to perform a clinical test.

What is a clinical laboratory? From the CLIA site: "

A laboratory is defined to be a facility that performs certain testing on human specimens in order to obtain information that can be used for the diagnosis, prevention, or treatment of any disease or impairment of a human being; or the assessment of the health of a human being; or procedures to determine, measure or otherwise describe the presence or absence of various substances or organisms in a human body (42 C.F.R. sec. 493.2.)."


And from that a clinical test is:
used to obtain information that can be used for the diagnosis, prevention, or treatment of any disease or impairment of a human being; or the assessment of the health of a human being; or procedures to determine, measure or otherwise describe the presence or absence of various substances or organisms in a human body (42 C.F.R. sec. 493.2.)."

Why would a company submit test with a CLIA facility if its INTENT was not to test clinically?

Does it make any logical sense that a company would chose to use a CLIA lab otherwise?

Maybe... But not likely. You see, CLIA does affect direct to consumer tests, just like it does physician ordered tests.

BUT, It does not affect tests which are not for clinical use. Why agree to clinical regulations, if you are indeed not providing Clinical tests?

This point demonstrates some of the "mindset" of 23andSergey. Do they defendants realize that what they are testing for has clinical consequences?

I would say so from their special insert box on the BRCA page, which reads

"This report has information that may indicate substantial odds of developing the disease. Because of the potential impact of this report, we require that you opt-in before viewing your results. It is possible to use the rest of the 23andMe service without viewing your results for this disease. In addition, no one else can see your data for this disease, including those with whom you have basic and extended sharing."

But what they don't realize is that this carrier state is classified as a medical diagnosis/condition.
V84.01-Genetic Susceptibility to Malignancy of the Breast

What is their "state of mind" about what they are doing. Do they intend to give risks about diseases?

They list prominently on their site the "conditions" they test to determine, measure or otherwise describe the presence or absence of various substances or organisms in a human body The substance in this case is DNA code.

DNA code to give risk to health by disease risk What diseases? The defendants cleverly call these "conditions" On their site they list some.

Our Traits & Conditions

• Age-related Macular Degeneration
• Breast Cancer
• Celiac Disease
• Colorectal Cancer
• Eye Color
• Heart Attack
• Multiple Sclerosis
• Obesity
• Parkinson's Disease
• Prostate Cancer
• Type 2 Diabetes

Aside from eye color, each one of these "Conditions" has an International Classification of Disease code number.

I argue that this company's and others like it have the INTENT to

1. Obtain human specimens for the purpose of quantifying and qualifying a substance in the human body "DNA"
2. Give assessment about the health of that individual by ascertaining their risk of disease through analysis of the DNA.
3. Portray that they are testing for "Diseases" as evidence by the "conditions" they test for.

In fact, upon further construction of this case it is crystal clear that 23andme is intended to diagnose, because its intent is to perform a clinical test and give information regarding that result to the customer/patient.

Because of this I recommend that this dtc company license with the medical board of each state in which it provides clinical testing.

Just saying it isn't "intended" does not make it so when the "intent and mind set" portrayed through its website is contrary to what is stated in "fine print"

The Sherpa Says: Playing doctor on TV is never dangerous, but playing it in real life while you deny you are is very, very dangerous.

Some Confusion Exists

I have a great comment string going on with Daniel MacArthur over at his blog Genetic Future

I think there is some confusion going on here and I place blame on just about everyone in this space who has a mouthpiece.......

But mainly I lay blame on the marketing teams for the Direct to Consumer Genomics companies.

These companies have an interest in making you "think" that their products have some particular health relevance.

Otherwise, no one in their right mind would waste their time with these tests.......Other than the HUGE field of ancestry buffs like Blaine Bettinger J.D. (woohoo) We need clarity here.

From Daniel- "The American College of Medical Genetics is saying "Genetic tests of individuals or families for the presence of or susceptibility to disease are medical tests."

The fine print says:

"This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen"

Meaning

"The judgement of what constitutes an inclusive test is left up to the physician"

In my opinion, there are Green tests, Yellow Tests and Red Tests. I think Ryan Phelan sized this up pretty eloquently in 2007 at a conference I spoke at with her.

Red means - Stop, does this test need analytic/clinical utility/validity? Yes, Go ahead and regulate, these are clinically validated/used clinically for a long time, tests which have a use in medicine. If this test is claiming to do so but does not, then this too should be a cause of regulation.

Yellow means - Well, this could be used but maybe hasn't yet. I think of Age Related Macular Degeneration testing. They could have clinical applicability and haven't been put to use yet. This category may also include low odds ratio common SNPs here which indicate risk FOR disease.

You should have some caution when selling/regulating these tests. The biggest problem is that with evidence evolving over time the low ORs may actually be overturned or fall into the Red category.

They key point is what the test claims to do here.

Does it claim to tell you a risk for a disease via algorithm etc.?

If yes, then it becomes a Red test.

If it says in huge disclaimers, this test DOES NOT PREDICT DISEASE RISK, in plain and clear writing on every piece of its marketing then Yellow tests stay Yellow.

Green Tests - Have absolutely nothing to do with a person's health. These tests do not need medical regulations. Ancestry could be here. Eye color/ear wax/height.

But the moment it is used for medicine or medical procedures (PGD for these things, scary but possible) it then becomes a Red test.

ACMG is talking about Red tests. It is also saying, if you as a clinician think a Yellow test is actually a Red test, then it is a Red test.

Which I agree is confusing. But ACMG is not the US or State Governments. Nor is it the UK or anywhere else's government......It is a professional organization.

My take is simple. If there is a risk for public harm, the government should protect its citizens from that harm in a reasonable manner. I emphasize, reasonable manner. What Techies in the Silicon Valley view as unreasonable regulation may very well be extremely reasonable in the view of physicians and hospitals......

There is no reason to get all crazy here. The New York Times is right, until the government or state governments step in to protect the citizens of risk, it IS Buyer Beware when it comes to genetic tests.....

In my mind, genetic tests need to prove their worth in the field of medicine. They do this by medical science and clinical science studies.

Without these, they are useless noise.

So, should you be able to buy useless noise?

Go ahead.

But the moment the noise whispers in your ear "PSSST, I can tell you your risk for diabetes for 50 dollars" Its A$$ should be regulated.

I hope that clears things up. The problem here is that you have a company selling you noise mixed with clinically valid tests. They are the first company whose A$$ should be told to hold up and split the products.

Then you have a company selling you noise all the while "inferring" it is actually predictive and useful in medicine by getting Doctors to use it in medicine should also be regulated.

Blame Marketers and Spin Men, just like "Thank You for Smoking"

The Sherpa Says: If you apply the Red, Yellow, Green interpretation scale you will soon understand why all the confusion exists. And how that confusion can be cleared up.

National Academies skeptical at Best.

If you would like to watch the IOM conference you can check out day one here
My take away from the first day.

"Do you guys (DTC) know what you are doing?"

"I wonder what kind of research and the quality you can provide?"

"I can't believe you aren't regulated already."

I think there are some really big issues here and there is some confusion.
Questions that remain to be answered..........
1. "Will these companies sell the customer/patient DNA/data?"
2. "Are these companies practicing medicine?"
3. "How do we quantify personal utility?"
4. "Will regulation really kill these companies?"
5. "What rigors and hoops will be required for these companies with research?"
6. "What will the GAO find about today's DTC companies?"

The best thing these companies have done is raise the need for answers and refined regulations.

The worst thing these companies have done is put customers/patients at risk for
1. genetic theft
2. harm via untrained physician
3. false predictions and false hopes
4. 3rd party harm

These companies should be behaving more responsibly, it is sad that they continue to market deceptively. It is also sad that they have not more carefully thought out their research aims. They clearly don't care about the chain of trust.

The Sherpa Says: I think the IOM and National Academies are skeptical at best. Which is the right attitude IMHO. DTC has a lot to prove and it hasn't done anything to do that yet.

IOM not webcast today. Why Not?

The IOM conference "Direct-to-Consumer Genetic Testing: A Cross-Academies Workshop" will not be webcast today? I wonder why not? Was it supposed to be and then submarined after Muin Khoury quoted an email I wrote him while he was presenting?

Why is there no webcast for this important conference today?

Maybe I am just a conspiracy theorist.

But I would like IOM and the National Academies to explain why the cover one day but not the second.

The second day by the way has some great topics


From the Agenda

Session 5: The Impact of DTC Genetic Tests on the Medical System

"If the medical system is no longer required to mediate genetic testing, how will the system cope with losing oversight (and reimbursement) of these services while retaining the full responsibility of caring for patients the services affect?"

Here is a little hint. Currently there is no mediation of this DTC testing, therefore you can see what is happening. Marketing hype, misinformation, inaccurate results, improper provision of the results, lack of follow up, no post services offered to BRCA mutation carriers.

Here's a mind bender, can you bill insurance legally for a ICD9 of Genetic Susceptibility to Breast Cancer from a 23andMx test for a 99245 on a HCFA form? Or is that insurance fraud?

To let these types of tests out in the wild, which we have, is only to introduce a lot of chaos which is not for the "Better" it is actually dangerous to the patient.

Now Back to the Agenda:

"Issues to Address:

Can we model the cost to the medical system of DTC genetic testing?

Reimbursement and DTC genetic testing – are insurance companies involved?
Do they have a role?

How can providers navigate DTC testing and results for patients in the clinic?

How do consumers react to DTC testing information, and what is the impact on their health behavior?"

Well, I would love to hear the explanations, but alas there is no webcast today!

Back to the Agenda

"Knowledge of DTC Genetic Testing Among the Public and Health Professionals"

I wonder if the public read the NY Times article yesterday ?

"It’s important to separate hope from hype,” Dr. Jennifer House, president of the March of Dimes, said at a recent meeting of its national communications advisory council. “Direct-to-consumer genetic testing is a buyer-beware market. Consumers need to be very, very cautious.”

Uh......haven't I been saying that for 2 years now? A little late to the sh!t party huh Dr House?

"At the moment, the reliability of most gene tests on all four criteria is questionable, Dr. Dolan said, adding that the “broad landscape of direct-to-consumer genetic testing is a slippery slope.”

You go Siobhan! Yet another one of Dr Marion's prodigies!

Yet, what Dr Khoury et.al. found is that 75% of doctors who were presented in the office with one of these DTC tests ALTERED care in some way.

What do Healthcare practitioners know about genetics? Very Little. What does the public know? Even Less. Which is why they are such an easy target to market to.

Back to the Agenda

"Cooperation or Competition – How Do Health Care and DTC Genetic Testing Coexist?"

They don't. Someone asked the guy from Pathway Genomics yesterday

"Do you think you are practicing medicine? If not, why not?"

That is the question here. Tell me Navi, 23andSergey, Pathway.........why aren't you practicing medicine?

You take a human biological sample, perform a test, run an algorithm and give a risk for disease. In what world is that not medicine?

Let me guess. "Uh we do those things, but what makes us NOT medicine is that we.....uh......
We uh...........we uh....DON'T CLAIM LEGAL RESPONSIBILITY FOR OUR ANSWERS"

The Sherpa Says: The IOM conference is going to be predictable, unless Google has dumped money into the Academies or the IOM......

NIH Draft Consensus Statement on Family History

The NIH conference on Family History came and went.

What were we left with?

A Consensus Statement.

What is the crux of it?

"The panel recognized that family history has an important role in the practice of medicine and may motivate positive lifestyle changes, enhance individual empowerment, and influence clinical interventions. The panel found that it is unclear how this information can be effectively gathered and used in the primary care setting for common diseases."


Well ladies and gentlemen. I can give you all sorts of anecdotal evidence. That being said, we are evidence driven creatures, so I suggest you give me a call and we set up studies in Primary Care practices with different family history tools.

Things such as the "SCREEN" screen versus a detailed 3 generation pedigree versus 1st generation.

It is pretty easy and inexpensive to set these studies up if you use current technologies.

What else did the panel say?

"For a systematically collected family history for common diseases to become an evidence-based tool in primary care clinical settings, substantial additional research will be needed."

I agree, it is time we develop these tools as multifactorial shotguns which hit lots of targets. This IS what DTC is arguing that there puny little scans do. Without evidence Family History champions like myself run the risk of sounding like the marketing hacks out in Silicon Valley and PR firms like NYC.

That being said there are some evidence tools where Family History helps clinical classification. I think specifically of the Reynolds Risk and how it beat the Framingham

We should attack this one precisely the same way. Start by each individual risk calculator ADD family history and see what it does.

Then do a cohort study of practices which routinely perform 3 generation pedigrees and see how the incidence of diseases like diabetes, HTN and MI shake out.

That could be done over 5-10 years. Not a long wait to get some great evidence, if you ask me.

The Sherpa Says: The evidence may be weak for Family History as a Poly-Tool. But as a clinical marker in certain diseases it is ESSENTIAL.