Sorry so long away

I haven't been blogging for sometime lately, this is for several reasons. The biggest of which is personal. I apologize to my readers, but we have had some family health issues.

When I come back, and I will, I am going to bring you some very exciting updates and also be posting on things VERY, VERY relevant to the Personalized Medicine Revolution taking place.

But until then, Family First. I hope you all understand.

Keep Climbing,
-The Sherpa

This Just In. 23andMe to go to GPs. I love my readers!!

That's correct. 23andSergey are going to offer GPs deep discounted SNP scans to General Practitioners in England.

As she is interviewed by The Times!!!

This comes just DAYS after I said that their market is in England, NOT the United States.....

"After listening closely to Timothy Aitman of the Imperial College of London, it seems to me that the market for DTC is not in the United States.

It is in Jolly 'Ol England. "

One of my readers sent this to me today and I laughed and laughed.

Why?

I am filling out an abstract that I will present to the GAPPNET meeting in Michigan.

It is about media response and attitudinal change to these companies correlated to my blog posts......

So what does Jolly 'Ol Anne and Bloody Sergey plan to do for Londoners????

"Ms Wojcicki said that it would be especially important for companies like hers to work with doctors to interpret genomic information, as the costs of DNA sequencing fall further. It is widely predicted that it will be possible to sequence anybody’s entire genome for less than £1,000 within a year or two, to reveal genetic variations that influence disease risk and response to drugs."

Ahhh, now you want to work with doctors Eh? Maybe listening to Mari Baker a little???? Physician distribution centers......

OMG, Dietrich, did you tell them our plan????

Well, count me in. As long as you come on bended knee. I will hear what you have to say. But then you have to hear what I am to say as well........

I have been getting CPMC data, this is no different, except the lack of IRB, the potential of bankruptcy sales of my data, the pootential of google linking this data to my gmail account etc.

The Sherpa Says: After trying to replace doctors with algorithms and getting bashed up against a brick wall, I would be more than happy to help you do this the right way.....Unless of course, you eat pain for breakfast!!!!!

Tell Me, How do you feel now? Sherpa's RX

One thing is for sure. In a recent poll of members of the AMA, granted a pretty skewed poll as tons of AMA members cut up their cards this year........random sample of 6000 physicians from the American Medical Association (AMA) Physician Masterfile, which includes current data on all U.S. physicians.

Excluded were, residents and doctors in US territories. From this data in the New England Journal of Medicine, Keyhani et al found some interesting things. The biggest of these is that a majority of physicians are for a governmental option WITH private options.

Not a surprise, this is what ALREADY EXISTS.

From the study......

"Survey respondents were asked to indicate which of three options for expanding health insurance coverage they would most strongly support:
1. public and private options, providing people younger than 65 years of age the choice of enrolling in a new public health insurance plan (like Medicare) or in private plans

2. private options only, providing people with tax credits or subsidies, if they have low income, to buy private insurance coverage, without creating a new public plan.

3. a public option only, eliminating private insurance and covering everyone through a single public plan like Medicare.

We also assessed the level of physician support for a proposal that would enable adults between the ages of 55 and 64 years to buy into the current Medicare program — a strategy that the Senate Finance Committee has proposed."

But what pisses me off about the article is how it is written....take a listen....

"Physicians in every census region showed majority support for a public option, with percentages in favor ranging from 58.9% in the South to 69.7% in the Northeast. Practice owners were less likely than nonowners to support a public option (59.7% vs. 67.1%, P<0.001),>majority still supported it."

No caveats for the fact that DOCTORS ONLY SUPPORT A PUBLIC OPTION IFF there exists a private industry as well.

What these jokers don't say is precisely that point. Which is why, the press will publish "A majority of doctors support a Public Plan" which may sound like they support single payer.....

They don't. In fact, 3 times as many support a private only plan than a public only plan!!!!

They do acknowledge limitations

"Some limitations of our study deserve comment. First, our response rate was 43.2%, which is modest, though typical of the most recent national physician surveys and surveys in general.

There were no significant differences between survey respondents and nonrespondents in important characteristics, such as specialty, practice location, and practice type.

Second, physicians’ opinions about strategies for expanding health insurance coverage may have evolved during the period of data collection, given the intensive press coverage of the issues."

But in the end, they never, ever mention the fact that a near THIRD of physicians support a private ONLY system and that this number is 3 times the physicians who support a government ONLY plan like Canada or the UK. Thus placing those progressives who demand such, clearly outside of the mainstream of most physicians.....

The only true way to save costs is to start using science and personalized medicine. You will not save costs by covering more people. In fact, I argue that there is no science which truly extols the benefit of enhanced coverage. What should be enhanced is catastrophic coverage.

What bankrupts people? Catastrophe, not a URI.

If you want to nationalize/universalize coverage, stick with catastrophic care. That would make sure everyone was covered when HUGE bills hit.

I am certain this plan would be extremely useful. Enroll everyone in this system and pay out when catastrophe strikes. It works for life insurance. Leave the small time players alone and focus on hospitalization costs, etc.

Continue funding HPSA and increase the loan repayment to 300k over 3 years rather than 85 over 3 years. Watch the doctors come then.......

Give tax subsidies for people who pay for URIs etc or traditional health insurance, which now should cost less as the government/taxpayer absorbs the catastrophic costs.........

That should keep everyone covered and help out with the uninsured. We all know that the major cost to hopsitals is the "self pay" patient with disseminated echinococcus or HIV or esophageal cancer or heart attack.

As for the government and medicare, if you just had a huge boost in revenue by new people coming on board for catastrophic care (To be read as, not pay out for most, and pay out later for some) you could help that insolvency thingy........

The Sherpa Says: Personalized Medicine is a key, rational thinking is the LOCK! I know, my wife just had an ER visit, the hospital charged 6168.00 USD, the insurance paid 800 USD. If she didn't have an insurer protecting her from gouging, she would have had to pay 6168.00 USD. I see it both ways....

Adrienne Carlson's Personalized Medicine.

Why Personalized Medicine?

There’s no doubt that mankind is advancing in leaps and bounds in all spheres, and when it comes to medicine, advancement is absolutely imperative if we are too keep ahead of the new diseases that are constantly plaguing us. If we consider it on a deeper level, personalized medicine is something that would benefit each of us, if we had the wherewithal to pay for the expense that it entails. In essence, it boils down to analyzing our gene sequence and deciding on the best treatment that our bodies are likely to respond to.

Personalized medicine will pave the way for the more effective treatment of diseases like diabetes and coronary issues, illnesses that are based on hereditary factors and our gene sequence. If we were to explain it in layman’s terms, it’s like going to an exclusive tailor and getting a suit custom-made for your size and shape without having to resort to buying one off the shelf, one that is often ill-fitting either over the shoulders or around the waist and hips. We don’t have too much control or say in what we buy directly from the store – the closest we can get to control is to buy a size that we think is right for us, one that does not really fit the way we would like it to.

Personalized medicine is good because it is preventive in nature; it helps prevent hereditary conditions rather than try to maintain and cure them after they manifest in our bodies. While it may be expensive initially, if personalized medicine advances through continued research, the healthcare industry will be able to save a huge amount of dollars in money spent on treating diabetes and other hereditary diseases that cripple and even kill.

Some forms of personalized medicine are already here to stay – drugs that attempt to change your genetic predisposition to certain diseases are already on the market and come with warning tags that are supposed to prevent other people, those without these genetic markers, from taking them.

It’s a nascent field, one that holds much promise, and if allowed to grow, will prove to be a boon to mankind.

By-line:

This guest article was written by Adrienne Carlson, who regularly writes on the topic of nurse practitioner schools . Adrienne welcomes your comments and questions at her email address: adrienne.carlson1@gmail.com

The Sherpa Says: Be kind, she is a nice lady.

Crazy Night of Emails to Government

So I was up watching President Obama deliver his speech with his usual eloquence and charisma when I began really paying attention to him. Not just his looks or his mannerisms, but instead to the words he was saying.

Why? Because what he was saying may have an impact on

1. My patients
2. My future as a physician
3. My family

I began to realize, OMG this issue can either affect every person, or just those who don't have insurance.

Most people who have insurance don't want it taken away. Most people who don't have insurance are young people, those who don't care about their health or those who can't afford it.

Why are people freaking out at town halls, because they could be affected negatively and are scared of this. Should they be? Well, maybe.

Medicare for example has a fee schedule for each state, you can look at CT here It is traditionally the lowest PAYOR OF ALL!!!

I am sick of hearing "Medicare is a popular program"

What is the alternative for someone greater than 65? Free or pay out the nose for medical insurance? I am SURE that this is why the program is popular.

Let me tell you a little secret. You mess up and miscode for an Insurer, you get audited and pay them back.

You mess up and miscode for the Government Plan, you have effectively committed a felony that could ruin your career forever.

Make sense? Not really.

Ask the doctors who do the coding if Medicare is popular. They will vehemently say no. Doctors everywhere are dropping Medicare because it

1. Doesn't pay enough
2. Exposes you to legal risk
3. Can punish you for not doing what they say

Corporate Insurance does Number 1 and Number 3. But they do not put you into number 2.

Why should we be felons? Any other governmental plan is likely to have the same statutes..

But, I did like the speech. I just hope he can back up the words.

But the answer here is simple. Someone takes other people's money and then takes some for themselves and their administration, then they pay for other people's healthcare.

Take less for administration. My guess is most of what is done could be automated by technology.

I got so fired up I emailed, Jim Himes, My congressman, from Greenwich.

I was in such a frenzy that I decided to comment on the Human Genetic Commission at the British Department of Public Health. This too was a diatribe. So I wish the UK all the best.

Why the UK? Timothy Allistar made me do it. After watching him brief the National Academies I began to say, here is a really smart guy, who thinks DTC Genomics is Not medicine.

I needed to get my point across. Now granted I am no Muin Khoury, but I wonder if Muin has commented on the site....

So I took this as my task as well. Needless to say, I am extremely exhausted. My points for DTC Genomics you have heard.

My Points to Jim Himes are as follows.

1. If you want to cover the uncovered, make it mandatory and give subisidies (Nice job Obama)
2. If you want insurances to stop being profit centers, create a NON Governmental Not For Profit like a Mutual of Omaha, etc. Fast track credentialing for them, but don't subsidize.
3. Don't cut payments to physicians, they already are getting killed by your lack of pay raise
4. You have to focus on a few things at a time. Play your hand wisely, or we won't vote for you again.

The Sherpa Says: True, no genetics today, other than the UK commentary (HT David)

The problem with nonclinicians.......

There is a huge set of people involved in the clinical DTC genomics game who are arguing that what they do is not medicine. Some of these people aren't even employees for these companies.

There is a fantastic comment string over at Daniel MacArthur's Blog Genetic Future.

Basically, from what I gather, Sigmund who is assume is a PhD Geneticist is telling me about clinical value and utility. He also is scolding me for using SNPs for the BRCA genes as clinical tests

"The fact that you see 23andme snps as valid for confirming a BRCA1 or 2 mutation status is, frankly, disgraceful."

What he doesn't know is that the DNA are not really SNPs per se.....they are mutations

i4000377, i4000378, and i4000379

5382insC

185delAG

6174delT

Look familiar?

These the Ashkenazi BRCA1/2 Founder mutations which are often tested for FIRST in people of Ashkenazi Jewish Ancestry....... PRIOR to Full SEQUENCING.

These 23andMe Mutations are precisely at the heart of what I argue is a silicon valley company trying to practice medicine without a medical license.

But the problem with Non-Clinicians is that they don't know clinical medicine, so how could they argue that something IS NOT clinical medicine?

Does that make any sense to you. Maybe if they could say, "Yes, I know clinical medicine by studying for 12 years" But if they do that, then they become clinicians in some regards......

But in usual Gene Sherpa fashion, I quickly disqualify people who do not know clinical medicine from arguing once they demonstrate their lack of knowledge in the clinical space.


@Sigmund,
Are you serious? The standard of care for ASHKENAZI jewish people with a high likelihood of carrying a BRCA mutation is to start with these SNPs.

You sir are officially disqualified from learned discourse in the clinical realm. Rather than address my questions about what you define a clinical test to be, you try to play straw man by stating something I did not argue all the while not answering the question.....

You are wrong. I am correct. This IS a clinical test, used ALL the time via a CLIA certified lab. Whether it be Myriad or Yale.

They check for the same biological sample and the presence of the same DNA......

I am an excellent clinician and don't need to defend myself to someone who obviously doesn't know the clinical standards of care in cancer genetics.....

God Speed in your quest to endanger the public.

-Steve
www.thegenesherpa.blogspot.com

So if you want to watch a fiery debate about who is doing medicine tune in to Daniel's Blog

Re-Reviewing the National Academies

After listening closely to Timothy Aitman of the Imperial College of London, it seems to me that the market for DTC is not in the United States.

It is in Jolly 'Ol England.

Timothy seems to be very Pro-DTC and Dr. Khoury(CDC), Dr. Ganz (UCLA) and Dr Korn (HARVARD) seem to firmly believe that regulations are needed and that they should be treated as one in the same with "Any other Clinical Laboratory that is offering similar services"

Frederick Anderson asks, "How far does this go? Does this go to the interpretation or the testing? Or Both?"

It seems to me that this panel is Pro-Regulation.

Timothy BTW is just a presenter, not a member.

My guess, National Academies will conclude that the regulation of these companies currently is not up to par. In fact, they may conclude it is an area in dire need of further regulation. What will that mean?

The business models of these companies will shift towards research focus. OR, they will start medical practices. Which is sad that they run away from regulation as opposed to actually sacking up, taking the charge and doing it the best they can. Ah, such is the fickle problem with Venture Capital......why take that risk of regulations with other people's money. Understandable.

The Sherpa Says: I will cover the Alzheimers stuff later. It is not as exciting as you may think.....

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.