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....

Genetic Test or Family History? Which Matters More?

I would say that when used in combination a 3 generation family history and appropriate genetic testing are probably the best tools we have to identify risk for and diagnose genetically linked disease.

So what matters more to patients? What risk means more? The results of a genetic test OR their family history. Hsien Lei touches on this briefly at Eye on DNA, but the interpretation she provides is not exactly what the article said or studied.....What article? Well the one I am about to tell you about...

Published in the Archives of Pediatrics and Adolescent Medicine this week an article entitled:

"Parents’ Concern About Their Own and Their Children’s Genetic Disease Risk"

The article sought to study:
To evaluate the effect of the genetic risk information source (family history vs genetic test results) on parents’ concern about their own and their children’s genetic disease risk.

In lay terms, which mattered more and carried more weight when "assessing" risk by a parent....family history OR genetic testing.....

Hsien interprets this Family History of Disease Scares Parents More Than Genetic Test Results .... I wouldn't say scares......I would say concerns.....or means more to them.....

Fear was not studied in this analysis......Concern was....

The Method:

Parents first received a vignette about their hypothetical genetic risk, randomized as either a family history assessment or genetic test results. Next, parents received a vignette about their youngest child’s hypothetical genetic risk, similarly randomized.

The Vignettes:

Imagine that you have family members with a disease that causes severe symptoms in adults. Having this “family history” means that (you/your youngest child) has a 30% chance of developing this disease. A 30% chance means that 3 out of 10 people will develop the disease.
“How concerned are you that (you/your child) might develop this disease?”

AND

Imagine that (you/your youngest child)gets a genetic test result that says he/she has a 30% chance of developing a disease with severe symptoms in adults. A 30% chance means that 3 out of 10 people will develop the disease. “How concerned are you that (you/your child) might develop this disease?”

So this clearly is a high risk gene 30% likelihood is about what the risk is for Ovarian Cancer carrying a BRCA gene mutation. "Roughly" for my CGC readers who like ranges......

The Results:

Parents were more likely (twice as likely) to be concerned about their own disease risk when
the risk estimate came from a family history assessment vs a genetic test result (odds ratio, 1.96; 95% confidence interval, 1.44-2.68).

But here's where it gets interesting.......Patients perceive the risk of their child's as the same as their own.....clearly not a mendelian concept or even a genetic concept......Even more interesting was the fact that despite this being the case 73% of the time, the other 27% actually were concerned that their child's risk was HIGHER than their risk......

Ah.....you have to love denial!!!!!

Conclusion:

Positive family history of disease generated greater concern about parents’ own risk of inherited
disease than did genetic test results.

The Sherpa's Conclusion? People don't know what the hell they are doing when analyzing genetic risk. Nor do they know what the hell they are doing analyzing multifactorial disease risk in pedigrees....

So I ask you....."Should we expect them to?" Isn't this the exact reason why we have geneticists and genetic counselors? Our job is to interpret family histories and genetic test results....in the doctors' case they interpret full medical history, perform physical examination and review of systems and evaluate other lab values oh, and medication history too.......

Why should we expect patients to know or understand these concepts? Oh, I know why.....because we are trying to thrust onto themselves the diagnostic and interpretive responsibilities in some crazy screwed up way to save costs for the American Healthcare system.....By doing non-clinically valid DTC testing which will be pushed down our throats by Time magazine and the PR firms of the silicon valley DTC firms.....

Or at least that's what some one in this field told me......Personally, if you want to save healthcare costs....fire the coders, HR departments, compliance people, essentially fire everyone who doesn't lay their hands on a patient or handle their lab specimens.........That's where the fat is.....it is NOT in direct care.....

The Sherpa Says: Pedigree analysis, Bayesian Interpretation, Molecular Biology and Genetics are not taught in high school...why In the hell should we think everyone will be able to use DTC testing, which doesn't even throw family history into the mix......Silly....real silly......Stick with your Sherpa.....don't try to climb mountains on your own.....

Burrill Report....deCoded

Consumers are worried about developing genetic based diseases, but remain reluctant to use genetic tests that will provide early warning signs.





That is the lead statement in the executive summary from the Burrill and Company Personalized Medicine and Wellness report issued last week. Many may ask "What's this report have to do with me?" many have even doubted the validity of the report in favor of the blogosphere......In the arena of Genomic Medicine, I would say the blogosphere is pretty one sided.....IN fact, that is why the Sherpa is popular. Until I started blogging, this place was pretty much a mutual admiration society. Further proven by the backlash I received when I said that governmental regulation was coming and then came.


So let's go back to the poll.....


Second Line

Companies need to make the case for the benefits of testing, allay privacy concerns, and would be wise to work through doctors.


We have known this in Medical Genetics for a very long time. If you have counseled anyone, you know these concerns to be true.....


Only one in five consumers said it was very likely (5 percent) or likely (15 percent) that they would get a test in the next few years to measure their genetic risk for certain diseases.


This is a point of contention between Daniel and Me.......He says 20%......I say 5%....


Why? Only the very likely will get the test. It is just like a referral to see another doctor.....if you aren't feeling ill, only the very likely will ever go see that specialist.....It is called the attrition rate and is commonly understood in medical care......only 20% of your "presymptomatic ill" ever go see the referral.


So, I remain certain, the market for these tests is 5%

Just 4 percent of those surveyed said they have ever had a genetic test to determine their risk for a particular disease, but two-thirds of those who did so because it was recommended by a doctor.


My guess is that these patients received BRCA testing. What this doesn't say is who ordered the test and was it done DTC versus through a physician. Did the other one third "Ask" a physician for the test? The most likely reason a physician orders a genetic test? You Guessed it "Patient Request"


I don't believe all of this self reported survey (Physicians never like to look out of the loop) but the most likely reason to test is pretty strong.


Factors associated with ordering or referring included practice location in the Northeast [odds ratio (OR), 2.30; 95% CI, 1.46-3.63%],


feeling qualified to recommend CSTs(cancer susceptibility tests ) (OR, 1.96; 95% CI = 1.41-2.72),


receiving CST advertising materials (OR, 1.97; 95% CI, 1.40-2.78%),


and most notably, having patients who asked whether they can or should get tested (OR, 5.52; 95% CI, 3.97-7.67%).


It Trumps Feeling Qualified!!!! Even Myriad knows this!


So with this in mind, let's go back to the Burrill Report.


What About GINA????

only just over a quarter of respondents (28 percent) said the passage of GINA made it significantly more likely (7 percent) or somewhat more likely (21 percent) that they would undergo genetic testing. A total of 68 percent said the passage of the law would have no effect on their decision to get a genetic test.


Remember the rule of attrition......that to me states only 7 percent feel more likely to test.....But the physician recommendation may alter that a little bit....not alot, but a little. We saw a spike at Helix Health of Connecticut....so I know this must be influencing some....


SO Who did the report?

The survey, conducted through ChangeWave’s proprietary network between May 27 and May 30, 2008, is based upon responses from 550 consumers.


AND THE NETWORK CONSISTS OF?????

Nearly 3 out of every 5 members have advanced degrees and 93 percent have at least a four-year bachelor’s degree. This is a proprietary network of more than 15,000 highly qualified business, technology, and medical professionals in leading companies of select industries—credentialed experts who spend their everyday lives working on the frontline of technological change.


IS THERE MORE TO COME?????


These results represent the first part of a three-pronged benchmark personalized medicine and wellness survey that is being undertaken by Burrill & Company. Companion surveys of physicians and industry professionals will be joined with this study for the final report, which will be made available this summer.

I found this article in 2007 by David Ewing Duncan very useful. The Quote from Lee Hood and then from David Altshuler both physicians.....

David asked Lee who has met with Google and has long been a maverick bridging the worlds of biology and I.T., "do Web entrepreneurs truly understand the limitations and pitfalls of this science?"

“They absolutely do not,” Hood says. “The heart of predictive medicine is in getting clinical validation and working out the fundamental biological systems—how genes and proteins and other elements interact. I don’t think that most of the Web 2.0 crowd entirely gets this.”

The he asked David what value do you see?

Critics also see little value in testing healthy people for a wide range of possible diseases. “We don’t take an M.R.I. for everything, and I don’t order every test for every person,” says Harvard geneticist and physician David Altshuler, a key figure in the Human Genome Project. “Those who do are scamming people. It’s the idea that just knowing something is useful—well, maybe, maybe not.”

I wonder what the physicians poll will show????

The Sherpa Says:


The writing is on the wall....Despite what the blogosphere says.....if these guys have 15000 members, why poll just a paltry 550? Because all they needed for an effective sampling WAS 550....We are not talking about a study to establish linkage here ladies and gentlemen...we are talking polling....much like political polling they only need a good sample....unlike(No offense) the skewed sample in the blogosphere. To Industry I say, get to know your doctors. There is a reason why Myriad is so successful......

Updates from the Burrill Conference

Lo and Behold, the Sherpa goes looking for some updates, Epidemix and Wired deliver. My favorite line from Wired is

"Early medical testing and treatment could save patients and healthcare providers a ton of money, but nobody wants to pay for unproven and often expensive new lab work. FDA approval is not required for laboratory tests, but it is an indicator that products are actually beneficial to doctors and patients."

The best lines from Epidemix are

We’ll see about that - but there were three telling stats that came up during the day. Together, they make quite the case for personalized medicine.

1) Half of all prescriptions don’t work for the patients. Most drugs have an efficacy between 20 and 80 percent, averaging around 50 percent. Meaning that they only have their intended effect half the time. That might be awesome in baseball, but it’s hardly reassuring in medicine.

2) Chemotherapy is effective - defined as remission - in just 5 to 10 percent of breast and colon cancer cases. This is likewise startling (the stat comes from Randall Scott of Genomic Health). And factor in the fact that chemo costs about $30,000 per patient per year, and there’s a massively inefficient treatment module out there.

3) Six weeks - that’s how long it takes, give or take, for a physician to determine whether a given antidepressant is working for a patient. And given that only half of drugs work, that’s a rather long time for a patient to go effectively without a treatment for their depression or mental illness. (This from Wolfgang Sadee, chair of the pharmacology department at Ohio State).

But what is most exciting about the conference is the attention that was purported to be spent on predicition, prevention and personalization. This is what the essence of personalized medicine is.

Personalization includes face to face care and the ability to ask questions. Not questionnaires that give you incorrect guidance. No amount of computer work can give you the face to face communication. Here is an example of preposterous questionnaire results.

If I was a 40 year old woman with no first generation history of breast cancer, but had a more distant relative with breast cancer after 50, HH's position and that of the literature is that you probably shouldn't have BRCA testing as the likelihood is very low.You may ask why and spend time with us going over why we think so. But in a questionnaire the answers are often yes or no. Much like the one I just filled out. Don't believe me? Try it yourself

Direct sequencing is probably not the best "test" to detect and prevent breast cancer, a mammo is. And it certainly is tricky how this info comes up first, rather than the next screen where it says this test may not be appropriate for you. A questionnaire is only as good as the answers they provide....

The Sherpa Says: In the scramble to make money off of genetics the consumer should make sure they get what they pay for. If the cost is cheap, it probably means the same for the service....... I hope the public can understand that. Thanks to Wired and Epidemix for the great posts. I look forward to hearing the rest of the conference tid bits! Oh, and shame on those little questionnaire writers.....Did you really think someone with genetics training wouldn't pick up on that?