Saturday, August 14, 2010

Putting Francis Collins on the run

In its Aug 12 issue, Nature evaluates how Francis Collins, who has taken on the mantle of hyperbolist-in-chief for turning medicine into genetics, has done in his first year as director of NIH.  Of course, he's had his genome tested for risks (3 times! Replication is always good).  And of course he's credited direct to consumer risk services as showing the way to personalized medicine.

What he's reported to have found is that he's at elevated risk for adult-onset diabetes.  So he's hit the exercise trail (though he's still riding his famous motorcycle to the office instead of walking or running) and he's lost 11 kilos, watched his diet, and remarkably, hasn't come down with diabetes during the year.

That this is proclaimed as a success for genotype-based medicine is a travesty of the truth.  And here are several reasons for saying so:

First, Francis is 60 years old and not diabetic. The population risk for diabetes by his age is something around 10%, and he doesn't have it, which is actual data not a statistical prediction.  Whether the risk estimated for his genotype is above average or not, at his age such information is largely useless.

Second, given his age and that he's escaped so far,  if he ever does get diabetes it can hardly be called premature or due to some special risk. 

Third, his health regimen was apparently not based on any clinical finding like a glucose tolerance test, so it can't be called therapeutic--it's not personalized 'genomic medicine'.   If it was based on a clinical test it was personalized medicine, to be sure, but the same kind that's been the job of medicine since Hippocrates.

Fourth, and above all, if you're overweight, or have diabetes in your family, or don't get enough exercise, then watching diet and getting exercise is a great  preventive thing to do regardless of any genotype information.  It doesn't have to be 'personalized'.  Why?  Most diabetes cannot be predicted by genetic risk at all, or not by identified genes, as the GWAS results have very clearly and repeatedly shown.  In fact, the low predictive power of specific genetic variants is actually one of the more positive real findings of GWAS!

You don't need genotyping to do what he's done, and his experience gives no support for genetically personalized medicine (it doesn't say personalized genomic medicine is useless, either, of course).

Personalized medicine has its place, as we have said before.  Its place has to do with those who really do have identifiable genetic risk and some reason to suspect that.  We discussed that yesterday, in the context of genetic counseling, the legitimate medical use of genotypic data.


occamseraser said...

One word -- Biologos (Biobogus?)
Revealed wisdom is FC's MO. Nothing he says or does should surprise anyone anymore ... sadly.

Ken Weiss said...

It's an interesting comment. I don't know Francis well enough to know the degree to which his faith in genetics is just faith, or reflects a deeper reasoned belief about why genetics is the way to go.

He's done genetic research for decades and was involved in some clear and important successes (CF and Neurofibromatosis and perhaps others that unlike diabetes really are genetic in most if not all cases), and that may have reinforced the feeling that genes told the tale and would yield the clinical answers.

He has, of course, worked in diabetes genetics for years, and that may have simply committed him to his point of view. And, once in an administrator's role, it's part of the job to lobby--that's now the American way--so his advocacy is not surprising, even if it needs to be resisted where it's off-base.

Of course nobody would dismiss genes as important in health. And it's possible that his religion has given him a more deterministic view of the world. One can't deny his belief in doing something for human health, and this could be reinforced by his religious beliefs, too.

But perhaps as you say, when someone is vulnerable to received wisdom in the religious sense, it's also no surprise that s/he would be that way in other areas.

occamseraser said...

Your perspective is more informed (and kinder) than my own, thanks.

Any idea as to FC's official position on "evolutionary medicine"? How about "alternative med"?

oe said...

Sorry for being lazy.
Among other interestinf stuff, found this:

any recent report cards on FC at NIH?

Anne Buchanan said...

The Nature story we link to in this post is a recent report card. They give him high marks. You may have something else in mind, however.

No clue about Collin's postion, official or otherwise, on evolutionary medicine but as head of NIH he also oversees the National Center for Alternative and Complementary Medicine. He has said he'll apply the "comparative effectiveness" effort ($400M of Recovery Act money dedicated to finding the most effective treatments to different diseases) to alternative as well as conventional therapies.

Ken Weiss said...

I have no scoop on what people think of Francis inside or outside the beltway. Pinker is right to be concerned about someone with his expressed kinds of beliefs in a science job. But that is largely because if the particular virulence of our current national 'debate' (culture war, really) about the religion vs science.

Francis has clearly and publicly said that religious people should be careful in citing biblical statements of worldly facts, because science will show them to be wrong when they're wrong. Such as young earth and so on.

Still, we've had similar religious believers in all sorts of jobs (including the Presidency recently!). They may disturb those who differ with them, and Pinker's unease in this case is understandable.

But the real issue is, or should be, whether someone as influential as he is has a sufficiently sophisticated understanding of a subject (and in the case of genetics and disease, that means of evolution and how it actually works as a population process, not just of fancy sequence technology gear nor of simplistic causal determinism).

If his epistemology is shallow, then lots of money is being committed (and biobanks do it long-term) in a direction that is not a justifiable priority.

I happen to think that we've known for many years, and it's been widely published, why strong genetic determinism--that as a general statement individual or identifiable small sets of genes strongly and reliably predict the kinds of disease phenotypes that are at issue--is a wrong interpretation of the nature of genomes and what they do.

We'll be posting on this issue in an indirect way next week, relating notions (accurate or not) to assumptions about determinism.

That has nothing to do with religion. And I see no reason to think Francis would urge funding for research to support religious doctrine, etc.But if genetic determinism holds for diseases that everyone might wish to get rid of, one can't just dismiss it for other areas--like race, social behavior, and much else that relates to the distribution of opportunity in our society. Genetic determinism is dangerous to society and needs to be handled properly and carefully.

That, to me, is the greater issue, because I think things are far less deterministic in the ways relevant here.

In addition, when funds are committed to support the professoriate and various other vested industries, funds secured with misleading and grand promises about peoples' health benefits, then I'll seem like a libertarian in saying that this is a misappropriation of public funds. If those whose taxes pay for it have no reasonable likelihood of health benefit, they should not be taxed or at least should have a more honest understanding of the research situation.

There are, for example, plenty of ways that would demonstrably reduce burdens of many diseases far more than genetically based approaches, even if every claim about genetic involvement were true. Francis' exercise routine exemplifies that. Prevention should trump investigation of weak causation when public money is involved.

However, though it would not further the interests of the communities now gaining the benefit of Collins' views, we could be pouring funds much more into the understanding and treatment of diseases, of which there are many, that are truly genetic.

So, I think Pinker is being dragged into the culture wars, maybe enjoying the chance to seem self-righteous, but religion here is largely a red herring when the more serious issues about the science itself are not being given the attention they should.

Anne Buchanan said...

If you search MT for Collins, you'll find what we wrote when he was appointed to head NIH. As now, we were more concerned then with his genetic determinism than with his religious beliefs.

Ken Weiss said...

As to Anne's point that Francis gets high marks, it's no surprise as he's a master bureaucrat. But given his history it is absolutely fair to wonder or be skeptical about whether he can or will truly put momentum behind things very far beyond 'personalized genetic medicine' or evaluate their 'effectiveness' objectively.

Alan Packer said...

Your ongoing crusade against genetic determinism in the realm of complex disease is usually a helpful corrective to the hype, but in this case I think you're being unfair both to Collins and to the author of the Nature piece. You say "that this is proclaimed as a success for genotype-based medicine is a travesty of the truth". But nowhere in the piece is Collins making such a claim. And neither does the journalist who wrote the piece. All Collins says is that his training and weight loss have "helped me a lot in terms of being able to take on the intensity of the job". Maybe Collins really does believe that his genome scans have saved him from type 2 diabetes, but you wouldn't know that from anything that's written in this article.

Ken Weiss said...

I agree with the literal things you say, but when someone such as Francis Collins, a genetic medicine advocate if there ever was one, talks about all these things and having his genotype done, and his consequent new regimen, the implication is there and I think that implication would be clear to him, and to the reporter.

It's not much different than having a sports hero like Tiger Woods on a Wheaties box, clearly suggesting that eating Wheaties will make you successful at.....well, maybe Tiger Woods is a bad example. But you know what I mean!

We live in an advertising age. Anyway, this is of course a matter of judgment and we are all free to have our own.