Paradigm Shifts.....

I am busily preparing for the Coriell ICOB meeting in Philadelphia coming up shortly. We are set to examine a whole host of new SNPs and their relevance to disease. I also am ramping up our practices in Connecticut and New York City. Traditionally a consult service, Helix Health of Connecticut is going to really put its money where its mouth is...we are taking on a full time role in management of patients.

We certainly are excited about this move. We initially didn't want physicians in our communities to think we would want to "steal" their patients....which has never been our aim....but now after multiple requests by our consulted patients we will begin seeing full time primary care patients in our clinics starting in January of 2009.

Call now to start an intake, we are already filling up quickly.....

We will carry out the usual intakes and genomic consultations, but this time we will also be doing the full time quarterbacking. Sniffles, Chest Pain and Depression all deserve Personalized Medicine, don't you think?

Our team is committed to this and stand ready to serve.

We will be carrying out some amazing projects which I will share with you shortly.

We believe our communities are ready for this care, we hope the government catches on before it's too late......

Real Doctors, Performing Real Personalized Medicine and Genomics.........

To Your Health,

-Steve

Oprah's Community against 23andMe

When Public Relations Backfires

Genes provide Minimal Benefit!!!! Seriously Oprah!

Genotype Score in Addition to Common Risk Factors for Prediction of Type 2 Diabetes......

That's right, the New England Journal of Medicine has 2 publications in the Journal this week. What's the take away?

Paper One: Conclusions A genotype score based on 18 risk alleles predicted new cases of diabetes in the community but provided only a slightly better prediction of risk than knowledge of common risk factors alone. The C-statistic was 0.900 versus 0.901......some on....can we even call that better? The nearer the C statistic to 1, the better the predictive value of the test...so can we really say it is worth it???

Paper Two: Conclusions As compared with clinical risk factors alone, common genetic variants associated with the risk of diabetes had a small effect on the ability to predict the future development of type 2 diabetes. The value of genetic factors increased with an increasing duration of follow-up. In this study they use the area under the ROC, where the change is 0.74 to 0.75....again lackluster results...

You tell me? I just gave a lecture to several residents in Internal Medicine......I asked what the barriers where to taking a family history. One pragmatic resident said "So let's say I get the family history. What will I do clinically different?"

These articles in the New England Journal of Medicine make me pose the same question.......

What do I do with this only slightly, increased ability to pick up disease risk?

The answer? No one knows......Is it worth spending thousands of dollars on a test that doesn't dramatically improve detection of predisease risk?

I am not so sure.....

The bigger question is, are predisposition SNPs what we should be studying instead of rare copy number variants????

The Sherpa Says: With stats like this, DTC companies will be dead and so will the microarray business.....Will we achieve personalized medicine with such disappointing results???? Yes, but not via DTC...or via Oprah.

Not Intended to Diagnose or Treat

Andrew at ThinkGene comments on something that I have not been able to effectively explain.

We trust health assets like “medical advice” to exist. That is, we trust that public medical information describes reality such that it may be applied to measurably improve health. This is a challenge because medical advice, especially preventative medical advice like genomics, is a trust asset: an abstract idea with value applied to the indefinite future.

This is a very precise explanation. We pay for medical advice.......which may include diagnosis or treatment.......We trust trained health professionals to give that advice. We trust that they are capable of giving that advice......Why?

Well, we have a licensing system in this country that helps us assure that quality. In addition to that licensing we have things such as Board Certification or eligibility which also let us know that the practitioner has a certain set of skills, verified by a specialty.

These hurdles are required. Why? They are required to help establish "trust" in the system...

Andrew goes on to say

However, that trust is under attack, and as the immediately profitable but eventually catastrophic erosion of the term “insurance” now jeopardizes the financial industry, the meaning of term “medical advice” is now being eroded by greedy companies.

This system had been under attack for a very long time.....It had appeared that things such as "Alternative Healthcare" or "Nutriceuticals" had carved their own niche and it was Understood by the lay public that this system existed "Outside of the trusted practice of medicine" Thus the DIETARY SUPPLEMENT HEALTH AND EDUCATION ACT OF 1994 opening the field wide open for alternative care.....Prior to this the FDA regulated nutritional supplements.

The public knew that these systems existed in parallel tracks and that the quality of care by alternative systems would likely need to be "backed up" by standard medical care....a very small few, swore off western medicine, but these were the patients who would often present to an Emergency room with some "Morning Report" type case of undiagnosed diabetes, heart disease or cancer. Morning Report cases are often tales of very bad diagnoses (Bad for the patient, incredibly instructive for the resident)

But what is happening now is the replacement and possible erosion of the trust in medical advice. Why? Science or perhaps PseudoScience has evolved. Reporters relying on press release have adopted "Newly Published Results in Nature Science" as the Truth......Despite this not always being the case....even Russ Altman commented on this the other day.

The public is now understanding that Genomics is part of healthcare.....and with good reason, it IS healthcare. But the layperson doesn't have such a nuanced view and can't understand limitations of Non-Medical Medical Advice when it comes to genomics.

I Repeat "But the layperson doesn't have such a nuanced view and can't understand limitations of Non-Medical Medical Advice when it comes to genomics."

A gene is a gene, and to convince them of otherwise takes quite a bit of effort. The string of though goes something like this: "Genes are medicine, thus a genetic test is medicine.....and genetic advice, must be medical advice....

Thus, I implicitly trust the genomic testing advice....which in disclaimer is not for "Diagnosis or Treatment"

Andrew has reported on precisely this confusing thing on a DTC genomic website and press release. It can be easily viewed as confusing when a company tells you "Helps the patient make informed personal health decisions" Despite Andrew highlighting the "state of the art medical advice and services" he should have high lit "Helps the patient make informed personal health decisions"

This is the crux of this argument. When a patient usually wants advice about personal health where do they normally go?

The Doctor....Despite WebMD being the first link for Medical Advice on google, we eventually end up at the doctor's office...BTW the web tools for genetics in medicine are woeful, with over 1/3 having wrong answers or misinformation...

So what is personal health? In my opinion it is the realm of medicine. Health can be viewed in many ways, but protecting health and restoring health has always been viewed as a medical trait. Ever heard of preventative medicine?????

So Andrew is correct, the line is getting awfully blurry. When companies start making claims which blur that line while hiding under the legal nomenclature "This Service is not intended to Diagnose or Treat" it can be very confusing for the public....and with fantastic PR and being named as the invention of the year, we can be certain that the public is starting to lose sight of that line.....

But I say, isn't this what these companies want anyways? They want to replace modern care with "Wiki-Style" care.....I think we have seen that already...

This may or may not be a good thing.....Personally I think it is a horrible thing, but the scientist in me accepts the null hypothesis "There is no relationship"

So when would it be a bad thing? If the replacement of current medical advice takes place without the same licensing and regulatory guidelines that exist in current medical advice, then we may see a true erosion of trust in Medical Advice, which when it happens will lead us right back to where we began, with skilled professionals giving us the trusted advice we sought in the first place....

The Sherpa Says: "Genetic/Medicinal Advice" could be placed back in the dark ages if we start allowing it to be sold without the stringent regulations or to be able to jump the turnstyle through legal jargon and avoid regulations that are placed on it currently. This is one of those dangerous shortcuts that the Sherpa avoids.....you won't jump start the system by cutting the climbers off at the knees simply because you don't have enough crampons to climb the mountain....

Francis Agrees with the Kid!

First, Hat Tip to Mr Weber, a longtime reader of my blog. Thanks to him for bringing this to my attention.

Do you remember how I said that genetic counselors lack the clinical training to integrate services such as pharmacogenomics and cardiogenetics?

Nearly got my disinvited from NSGC's Christmas Party

Well, I also said that the slack could be filled by Physician's Assistants and Nurse Practitioners. Which probably only fired up the NSGC more.....

It turns out someone......Francis Collins agrees with me.

In the spring (Yes I missed this) NHGRI hosted “Physician Assistant Competencies for Genomic Medicine: Where We Are Today and How to Prepare for the Future.”

Collins and the other speakers noted the emphasis in PA training on patient education and taking family histories and PAs' ability to spend the time with patients needed to obtain a detailed family history.

"The current system puts physicians in a difficult position," Collins said. "There's too much emphasis on procedures, and not enough on personal interaction. Therefore, the heavy lifting will have to be done by PAs and nurse practitioners." He described the PA profession as a possible "fulcrum" for the integration of genomics into health care.

So Mike, if you read this....give me a call. Sorry I missed yours......

The Sherpa Says: We need PAs and NPs to do the heavy lifting in obtaining family histories and helping to carry out genomic medicine. Why? Most CGCs wouldn't get that a poor reaction to wellbutrin could be due to a cytochrome p450 2D6 polymorpism. Or that a Reynold's Risk score is altered when identifying family members with heart attacks.....They could learn, but it would likely take another 2 years of training an already overburdened field......

When family history falls short v.1 and the Wall Street Journal

Andrew at ThinkGene asks a very valid question.....

When does family history fall short?

I outlined it in my last post but I figure now might be a good time to review one of the instances when family history falls short.....

But first I want to clarify. When I say family history, I mean at least a 3 generation examination performed by a trained healthcare professional.......not a meeting over Thanksgiving Dinner.....

Those four scenarios I mention include

1. Rare chromosomal anomalies that occur in less that 1% of the population
2. Rare monogenic disease
3. Congenital Anomalies
4. Severe Trauma

Today let's focus on Rare Monogenic Disease. Why? In the Wall Street Journal today, there is an article about a man who is stricken with EOAD.....Early Onset Alzheimer's Disease.....

From the article

"Now 51 years old, Mr. Kammerer, like many Alzheimer's patients, had no history of the disease in his family."

This is a common thing I hear about Alzheimer and yes, even early onset Alzheimer Disease....

Why is this important? Well, we have very little in the way of prevention for AD, we have pretty poor therapies as well. So naturally we would like to know what's coming, and avoid or at least plan for the train wreck....

When I was speaking at the American Geriatric Society meeting in CT earlier this year, I went over APOE e4 testing and Early Onset Alzheimer Disease too.....we covered in some broad strokes, but also cleared up a lot of misconception by physicians...

Yes....but first some good Stats:

1. Family History of AD increases risk of AD lifetime by 250-500%.....so if you have a baseline pop risk of 7-10% this would be 25-50% lifetime risk....

2. Genetic testing identifies 40-80% of EOAD, depending on the study you read

3. EOAD is about 5-10% of Alzheimer Disease

4. 60% of those who have EOAD have a family history.....meaning FamHx misses 40%

But for this important caveat......

Although most individuals diagnosed with EOAD have an affected parent, the family history may appear to be negative because of failure to recognize the disorder in family members, early death of the parent before the onset of symptoms, or reduced penetrance.

So do you guys understand why I say a family history should be done by a trained pro? You can miss things like this, especially if you don't ask about ages of death or other causes......

I ask if anyone has died in a car crash when I take family histories.....not many people do that....but it can be a predictor of seizure disorder, sudden cardiac death, Alzheimer disease, stroke....you have to know what to look for......

So what I found most interesting about this story.....the take away point was not there......even if there was no "family history"......where is the story about genetic testing to identify risk in the children.....that would make for a great discussion or follow up......Is it ethical to test children for this risk? The American College of Medical Genetics would say, "No"

So what do you think???

Does Mr Kammerer have no family history? Does he carry a gene mutation? These are Bayesian questions that need to be answered......we know his pretest for having a family history is 60%...... we also know his likelihood of having a mutation in one of the 3 genes for EOAD (PSEN1, PSEN2, BAPP) is approximately 40% (Low end estimate).....

So do you think he should have seen a healthcare professional to offer genetic testing?

I would say yes. This is one of the times when a rudimentary collected family history may fail us, but perhaps a professionally collected one would show something...

So would a SNP testing identify this risk???? Not most of the Chips.....More importantly, do you really want to get those results in your "home office?"

The Sherpa Says: This genetic testing business is confusing. Not exactly what I would say could be sent out into the world without some training wheels......Not to be "paternalistic" but what if this SNP was on the CHIP.....soon we will have really cheap whole genome analysis and IT WILL be on that.....we have to have a serious discussion of how we can create tools to help us.....not replace us....before the public gets hurt.

Sleep on it.......Nawhhh

That's the advice I get......often.....Sometimes I take it, sometimes I don't........

My friend has pointed this out several times.......In fact in my last post, my generalizations lead some people who I wasn't even talking about to get upset. I am sorry about that. But it is no big surprise, the Sherpa has managed to piss off enough people to play out Carly Simon's song...........

You know the one......

You're so vain, you probably think this song is about you

You're so vain, I'll bet you think this song is about you

Dont you? dont you?

But in this case it is a blog post......and the unnamed source is revealed........a little company on the outskirts......To be clear.......it is not about a man......and it is not about someone named Hsu or a company named 23andMe. It is about a company whose marketing tools include fooling the consumer into thinking family history catches less than a SNP scan........I will do what Carly Simon did.....indicate that a letter in the answer is "E"

But I am right and maintain, properly gathered family history has been studied for decades.....GWAS/SNP testing......less than 5 years......

This is why you can't algorithm out genetic counselors, someone needs to track down and verify these histories, and with the geneticists too busy to think straight, someone needs to do it.......until now....it turns out there are many people working on creating social networking of family medical histories.......brilliant idea.....it would absolutely remove the burden of healthcare workers actually doing it....if each patient enters their own history and links to other family members......we then have a self-report of medical history tree.....which is way more accurate than self reported family history....This is the type of thinking that will lead to earlier diagnosis.....through a well studied mechanism.....You may be too late for that one, but let me give you another.....

Rather than invest all that time working on algorithms to pump out reports on barely valid data, we should have more people in silicon valley working on real tools to move personalized medicine forward......yeah I said it.......want to save healthcare? Find a way to auto medical code thus removing billions of dollars spent of healthcare coders each year. What's a coder? Let me explain..........

To get paid by insurance a doctor has to tell the company 4 things.

1. Who the patient is.....the policy number

2. Who the Doctor is.....the National Provider Identification number

3. What the patient has.......the International Statistical Classification of Diseases and Related Health Problems Number (ICD-9)

4. What was done on or to or for the patient...the Current Procedural Terminology Code

With these four things in hand an insurer can approve or reject a claim......pay what is asked or pay what the insurer thinks is fair......

What's the problem? People go to school to learn how to do coding for doctors....why? If coded right, the doctor can collect more money....If coded wrong the doctor makes less......

Doctor's hate menial tasks like this, so they spend their hard earned money on coders, but I am about to let the Valley in on a secret......sorry coders, but your days are numbered....

Coders make between 35 and 50 k per year. Not a lot per person, but if you come up with a program to do the coding, you could save a doctor that much per year.......you could end up saving a hopsital, which often has 10 of these guys on staff 500,000k per year....

There are currently a little under 100,000 of these people at work in the healthcare system.....100,000 at 50,000 USD each.....do you see where I am getting......that is precisely 5 billion dollars A YEAR!!!!!

Betcha not many people know that!!! This could be a 2.5 billion dollar a year company, instantaneously, not ever needing to create a market......Like DTC genetic testing has to do....

I have tech compatriots who say that the DTC genetic testing is the kernel of thought that tech feels is just the start of the healthcare revolution......

I think, man.....why didn't they put Navi or 23andMe's millions into a coding company......

That would be the start of the true healthcare revolution.

....Here's a hint, We ARE an expert society, we outsource things to experts, when we can, we try to replace experts, but that rarely can happen. Instead we should focusing on automating menial tasks....like coding...This empowerment movement would come quicker and the billions in GDP would come sloughing off if we can do one thing.....find a way to remove everyone from healthcare that doesn't talk directly to a patient for the purpose of diagnosing and treating them........If you do that, the GDP spent on healthcare would drop to 8% guaranteed. Here's a hint, don't pick on a field of experts first....all you will get is push back. Which is why ASHG has opened another front on DTC.....

Go take the tech money and pick on the operators, administrators, human relations, custodial, marketing, public relations, coders and everyone else that spawned from providers not wanting to do it......rather than decide to push slightly scientific tests on a scientific field that demands the highest levels of accuracy......Early diagnosis happens more often when a doctor has the time to spend with a patient. Not from a panel of SNPs......most of the time....

The Sherpa Says: True, empowerment can be a good thing....but if you empower healthcare practitioners with a 5 billion dollar bonus for spending 5 more minutes with each patient instead of worrying about coding, then we really could realize personalized medicine.........