The Ultimate Paradox

I found this note in my e-mail this morning:

"My sister’s 3 sons (my nephews, ages 13, 11 and 8) were all diagnose(d) today with the same heart condition I have: Long QT Syndrome. Please pray for their peace & strength and for the wisdom of all doctors who see and test the boys.

They are facing years of tests, possible tachycardia and cardiac arrests, pacemakers, medications."

Positive congenital screening tests result in the ultimate paradox for the patients and families affected by the results:

The good news: the condition was recognized early.

The bad news: the condition was recognized early.

-Wes

Commercialism Before Evidence

It is yet another striking example of commercial interests superseding patients' best interests: the lure of "personalized medicine."

What is "personalized medicine" as defined by the business community? Is it really up-close and personal attention to your health care needs?

Of course not.

No, to the business community, "personalized medicine" is the deceptive claim that genetic testing can decide what tests you'll need or drugs to take to prevent a heart attack - with business interests telling us so.

Unfortunately, with the exception of some very well-defined and rare genetic diseases - not one shred of data exists that obtaining these heart attack-predicting genetic tests can do what they claim: prospectively predict your risk of getting a heart attack.

That's because all of the data they have obtained is based on retrospective correlational analysis rather than prospective outcomes data.

And yet that's how the headlines are construed:

"Gene Variant Is Said to Be Linked To Heart Attack and Prevention" - Wall Street Journal 22 Jan 2008

"Gene Test Can Identify Heart Disease, Spur Cholesterol Drug Use" - Bloomberg.com 22 Jan 2008

So what are these headlines about?

Well it seems another genetics company feels that they've found a gene called KIF6 (short for "kinesin-like protein family member 6") that correlates (thats the important verb here) with people who got a heart attack and lo and behold they could correlate that patients in their group that took statins did better than those who didn't. Funny how another "correlation genetics company" deCode Genetics, failed to identify the same gene! Gosh, how come? I mean, shouldn't these genetics companies be finding the same genes important to the development of heart attacks?

Or could it be that the business community has found a means to create new blockbuster gene-screening companies as varied as the galaxy? I mean, think of the potential - there are so many genes out there that the number of companies devoted to screenings will soon be just like naming a star after yourself!

But there's another troubling issue here.

It is telling when these sensationalist headlines are published before those of us who paid for journal subscriptions are leaked to the press before they are published "on-line before print." (My statements are made here before reading the publications, since they were not available for my review at the time of this writing). Here was this fine-print disclaimer from the Journal of the American College of Cardiology available to me this AM:

FOR THE MEDIA: THESE ARTICLES ARE TO BE CONSIDERED UNDER EMBARGO UNTIL OTHERWISE NOTIFIED BY ACC MEDIA STAFF. EACH ARTICLE BELOW WILL APPEAR IN AN UPCOMING PRINT ISSUE OF JACC AND WILL BE HELD TO THE STANDARD JACC EMBARGO POLICY, WHICH IS ONE WEEK PRIOR TO THE PUBLICATION DATE. IF YOU HAVE QUESTIONS REGARDING A PARTICULAR ARTICLE, PLEASE CONTACT AMY MURPHY IN THE ACC MEDIA RELATIONS OFFICE AT 202-375-6476. THANK YOU.

You see, it's important to all medical journals that they release these studies to the media before the general public or paid physician subscribers. Why? Corporate interests, of course.

I can hear the back halls of the publishing medical journals' halls now: "Hey guys, this arrangement with media we have is great! We can get the media to interpret the studies before the doctors to assure we help out those nice companies that pay for advertising in our journals! And if we leak it early enough, heck, they'll have time to interview those researchers who's work was supported by the company while really boosting our journal's impact factor! And then our advertisers will have to pay us even more! Damn, I love this business!"

It is a sick game but early leaks to the press can make or break a company eager to generate a buzz for investors.

Just look at the Transcatheter Cardiovacular Therapeutic conference held annually in Washington DC. New start-ups can show-case their wares internationally, and if received well, sky-rocket in value. If they are poorly received, die.

International medical conferences are the same way. Journals now commonly have their on-line publications held for release until the precise second a presentation concludes and shows the slide that says "This publication can be found on-line at http://www.theworldsbestjournal.com" - just so the conference advertisers can draw attendees and can get the (very) short-term buzz before the media hacks into it.

So before going out and dropping $200 into one of these companies' unproven tests promoted by the media, why not do the obvious: lose weight, eat right, spend time with your kids and put the money in an interest-bearing health savings account for when you'll really need it.

Like when you get sick.

-Wes

Image credit.

deCodeJeans4Me.com

Dear Gullible Consumer,

Thank you for allowing me to introduce my new company, deCodeJeans4Me.com, where we promise to tell you if you’re at high risk of all kinds of scary diseases as well as determine your ancestral roots, by looking at your jeans. You see, we have a patented way to predict what diseases you might contract by merely having you send us a pair of your jeans from the privacy of your own home to our fancy multi-zillion dollar laboratory. We will run over a million tests to identify small imperfections in the color and contour of your jeans that we have been carefully correlated to your jean-etic risk factor for hundreds of ailments. Using fancy machines, our well-meaning staff will determine your Every Disease Known Score (EDKS) that no one else understands but us. And once we see what your EDKS looks like, we’ll tell you, based on the world’s literature, what your chances of getting a disease might be so you can be “empowered” and “network” with other like-minded suckers souls on our fancy web site. All it will take is for you to register your name, rank, serial number, number of children, address, pant size, height, weight, your e-mail address PLUS a mere $900 (we want to undercut our competitors) and we’ll send you a pre-addressed mailer in which to place your jeans.

By the way, the federal authorities think this is a great idea, too! We’ll be sure to save your jeans in our secure warehouse so the feds can examine them carefully with a court order, especially in times of National Security breeches.

So go ahead, sign up, and send us those jeans!

Yours in blue –

-Wes

P.S. Please send jeans only. Underwear present unique biohazards that we are not yet prepared to handle.

P.P.S.: Be sure to see our competitor's website, too, for an informative link to their video to see an example of how this is done!

Photo credit.

12:30 19 Nov 2007 CST: Addendum - Oh, no! Even more competition! (Glad I still have a cheaper price...).

Genetic Testing for Atrial Fibrillation

It's "Genes Gone Wild."

Trap some Icelanders, swab their cheeks, compare their genes, and make wild predicitions about outcomes. It seems that's all you need these days to tap into the power of fear-based marketing used by genetic testing companies set to bilk gazillion dollars from gullible consumers.

And they'll likely succeed. I mean, after all, what's $200?

In July of this year, a single letter was published in the journal Nature detailing the findings of an "inverse solution" of an Icelandic and Han Chinese population that identified two specific genetic markers from gene 4q25 that suggested a correlation between these genetic markers and the presence of atrial fibrillation. That letter was authored by 19 stake-holders in deCode Genetics (including the principle author), a genetic testing company with more than a minor passing financial interest in performing such testing. They found that 35% of individuals of European descent have at least one of the genetic markers identified and that the risk of atrial fibrillation increases by 1.72 and 1.39 per copy of the gene. The association with the stronger variant was replicated in the Chinese population, where it is carried by 75% of individuals and the risk of atrial fibrillation was increased by 1.42 per copy of the gene. Doctors were even schmoozed to the potential wonders of this testing at the recent American Heart Association meeting. To be sure, it is miraculous what can discovered using their genetic debugging technique these days.

So what does this mean for you and me?

It means that they found a genetic marker that they estimate might be able to identify the development of atrial fibrillation 1.10 years earlier than those in whom the genetic marker is missing.

The deCode company would like to think that they can better target patients who would benefit from prolonged cardiac monitoring after ischemic stroke, but there are no data to support this assumption. The deCode company further believes that their genetic determinant can predict who is at greater risk in the real wide world at developing atrial fibrillation and who might benefit from being on coumadin after a stroke or transient ischemic attack, but again, there are no data to support this claim. The presence of this genetic marker does not mean you can predict if you will develop atrial fibrillation in your lifetime. It does not mean that it can predict if a cardiac monitor will be able to detect any atrial fibrilaltion earlier because you have the gene or not. In short, there are no prospective data regarding the application of the results from this genetic test as a prevention strategy for atrial fibrillation in humans.

What it will do is set you back $200.

You see, their study determined a correlation, but not causation. The two are very different. Just because there is a correlation of the presence of a genetic marker and atrial fibrillation, this correlation does not, in itself, say anything about the cause or etiology of atrial fibrillation in an individual patient.

What the marketing of these tests does do is misinform and confuse the general public as to the potential uses and pitfalls of this technology.

-Wes

18:10 CST: This just in, another late-breaking trial from the American Heart Association meeting using genetics to determine who will develop out-of-range blood thinning levels (INR's) showed a similar lack of clinical relevance.