Friday's Doctor using clinically unvalidated tests...

Dr Turrisi,

An otherwise fine doctor, I am certain, has decided to use a clinically unvalidated tool in his practice. It is known as the Navigenics Health Compass. You can find him here. Or here on Vitals.com

Like I said before. I will highlight each and every one of these doctors who are using a clinically unvalidated tool to treat patients. Since Navigenics has decided to put it on the record. I will as well. Dr. Turrisi is one of 31 physicians in the MDVIP network who are using this test. Or at least claim to be.

Dr Turrisi is a Pulmonlogist and an Internist. He went to medical school in 1978. I wonder how much has changed in the field of genetics since then?

The Sherpa Says: MDVIP consists of 280 primary care physicians who serve more than 100,000 patients nationwide. I wonder why 10% are using this test? I know why 90% are not. What would you do clinically with different results? Could you do something differently based on the results?

An Easy Way to Find Overconfident and Dangerous Physicians.

I always wonderd who would admit to using the cliniclaly unvalidated SNP chips into their medical practice as if it were standard practice, without having any training at all in genetics.

Do you remember my blog post 2 years ago entitled "Beware Physicians Bearing Genetic Tests"

Basically I state that if you have not had any training interpreting genetic testing, you are likely to make a hash of it. This is especially true with the highly probabilistic and non-clinically validated SNP scans.

So just when I wonder who in their right mind would admit to using this as a clinical tool without any validation......Navigenics makes it easy to find the krazies!!! From the site.

"Find a physician"

A growing number of doctors have collaborated with Navigenics to integrate genetic testing into their medical practices. Through these relationships, Navigenics’ genetic testing services are available through affiliated physicians to help patients understand their genetic risk factors for disease and work with their doctors to develop individualized prevention plans."

The site then goes on further....

Navigenics does not endorse any particular physician or attest to their ability.

That is about the smartest thing I heard out of their mouth all day. Obviously, who are you to attest to their ability. But One thing is for sure. These doctors are certainly overconfident, by using non clinically validated tools in their clinical care.....Sheesh.....

I can imagine a Malpractice lawyer now.......

Lawyer- "Why did you suggest a cath in this patient with no risk factors?"

Doctor-He has a genetic predisposition in 9p21.3"

Lawyer-"Predisposition? Says Who?"

Doctor-"Navigenics"

Lawyer-"Is Navigenics a medical professional organization with criteria and guidelines?"

Doctor-silence

Lawyer-"Was a cath clinically validated as a means to prevent a heart attack in this patient with 9p21.3 SNP changes?"

Doctor-silence

Lawyer-"Why did you subject your patient to a risky procedure because of nonclinically validated test results???"

If I were an MDVIP patient, I would leave this organization and run for the hills. If they are willing to let a clinically unvalidated tool into their doctors offices, this speaks volumes of their lack of clinical judgement. Who would pay for that kind of care???? Who would deliver that care? 31 doctors according to the site.......31 of hundreds of thousands.....My question to these guys, what would they do clinically different with Navigenics Tests? Would they do anything different? If they are, I would love to hear their testimonials of how they use this test in their practice.

Let's ask one of them.

Does anyone have the contact information for him?

The Sherpa Says: Like I said, Beware Doctors Bearing Genetic Tests.....Now we have a list of the Krazies, Thanks Navigenics! Here's one of 'em I plan on profiling each and everyone of these......Until MDVIP comes to their clinical senses.

Lots to recap today.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

In My Inbox........

I think maybe the government of Germany has been receiving the same emails as myself. You see, in case you missed it, Germany is banning Direct To Consumer testing of DNA. This is something that I have been covering for almost 2 years now.....not the Germany thing but the whole regulation of what could be construed to be the practice of medicine.

Why do I think Angie Merkel has been getting the same emails as me? Well, take a look at my inbox-

"There is a new comment on the post "How to Fake a DNA Test".http://www.eyeondna.com/2008/04/13/how-to-fake-a-dna-test/

Author: Scooter Jones Comment:If someone wants to fake a DNA test would it work if he put someone elses saliva, sperm or blood in his mouth prior to being tested.?"

A while back I said that people could potentially "fake" a DNA test, planting DNA at a crime scene, etc.

It turns out 'Ol Scooter is trying to figure out whether Sperm, Blood or Spit is the best way to go......Too Bad he doesn't know that it's awfully tough to "spit" sperm or blood into a vacutainer tube.......

Maybe he could just bid on one of those Whoel Genome Scans that KNOME is offering.........too late :(

These DTC companies better hurry up before the US does the same thing as Germany's law

"Under the law, genetic tests can only be carried out by a doctor and require the full consent of all parties involved.

In addition it prohibits the use of genetic testing for indications of a predisposition to illnesses that appear only later in life, such as breast cancer or diseases of the nervous system."

The Sherpa Says: With guys like Scooter out there, it makes a lot of sense to follow Germany's line. These days we seem to be pro-regulation anyways......... I think I hear Agent Smith at the door now.....

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

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

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

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

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

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

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

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

"That may be a good thing"

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

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

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

Swine Flu Concerns

From Wikipedia

Several complete genome sequences for U.S. flu cases were rapidly made available through the Global Initiative on Sharing Avian Influenza Data (GISAID).[104][105] Preliminary genetic characterization found that the hemagglutinin (HA) gene was similar to that of swine flu viruses present in U.S. pigs since 1999, but the neuraminidase (NA) and matrix protein (M) genes resembled versions present in European swine flu isolates. The six genes from American swine flu are themselves mixtures of swine flu, bird flu, and human flu viruses.[106][107] While viruses with this genetic makeup had not previously been found to be circulating in humans or pigs, there is no formal national surveillance system to determine what viruses are circulating in pigs in the U.S.[108] The seasonal influenza strain H1N1 vaccine is thought to be unlikely to provide protection.[109]

However, this type of H1N1 Influenza can be treated with Oseltamavir and Relenza. By the this time next week Helix Health of Connecticut will have an adequate stockpile for its patients and employees. We are prepared. Are you?

The Sherpa Says: This genetic "Mongrel" is spreading rapidly and my guess is that the United States Government may be ready. But the towns and states may not be as ready. You can be ready by washing your hands, staying home when you are sick, covering your mouth when you cough and keeping people home who can't do those things. If you have fevers, go to your doctor or to the Emergency Room. But remember, those at highest risk have had contact with those from or returning from Mexico.

Why Family History Matters

I am often asked by my patients why I take such an extensive family history. They also often ask, why their other doctors have never done so before.

The short reason, you very rarely find anything you that aren't looking for. True there are incedentalomas of CT scans that end up saving someone's life. But those are the rare cases.......True, there are some doctors who are so busy that they order a zillion tests in a shotgun approach because they are too busy to think through a case, let alone take a 10 minute family history.

But I am not one of those doctors.

Just yesterday patient comes in with increased thirst and increased urination......this case was classical diabetes. But I also decided to take a family history.......

It turns out he has early onset cancers in the family. A stomach and an ovarian. 2 very rare cancers which most doctors would not have caught. Why? No one teaches you about Lynch Syndrome in Internal Medicine residency. More importantly, they wouldn't have had the time to work out the pedigree if they were double booked seeing 20 patients a day.

So in addition to the diabetes work up this patient is getting, he is also getting a cancer genetics evaluation by myself. Something I am very good at. Something I teach my residents about everyday. Why? Because I know they won't get this stuff anywhere else.

So when I see a blog post from a DTC company that says Family History isn't enough, I laugh. Compared to the testing that this company is offering, Family History IS everything and more than a 2500 USD test could offer.

"Navigenics assesses genetic risk for many common health conditions, including Alzheimer’s disease, breast cancer, type 2 diabetes, prostate cancer and heart attack."

As you can see from the links...genetic testing here just isn't that useful.....Which is why it is a shady practice to misrepresent it as USEFUL.

Family History as well as a good physical exam with our current risk algorithms does a far better job than a non-clinically validated SNP scan that costs 2500 USD does......

The clinical ramifications of this man's family history make SNP scan testing foolish, but Tumor sample and Germline testing the STANDARD OF CARE. No SNP scan would lead me to do either of those tests.........But the right family history? You bet your bippee.....

In a world where Comparative Effectiveness Research is taking place, we will soon see the SNP scan placed in a lower level of test and probably not be in the clinicians armamentarium.......unless of course the results (good, bad or useless) can get patients to do something that a good relationship with a doctor has not been able to do......i.e. quit smoking, lose weight, etc.

The Sherpa Says: I am sick and tired of journalists hired as "Health Writers" hyping a false product to improve sales.....This is a crappy thing to do to vulnerable people reading your swill....