High Expectations for the Progress of Genomic Medicine Did Not Pan Out — Is It Time to Reallocate Research Funding?

© 2011 Peter Free

 

02 April 2011

 

 

In biology, quick insights and fixes generally don’t go very far toward building a medical utopia

 

The scientific consensus today is that early expectations for medical miracles derived from exploration of the human genome did not come to fruition.

 

The problem is that (a) biological and disease causation are usually too complexly multi-factorial and (b), even when not, easily identified genes, gene complexes, or epigenetic control mechanisms seem to affect small and difficult to detect proportions of the human population.

 

We have no problem identifying bits of genetic code.  But figuring out what and how much they mean in regard to disease risk — and for whom — has been much more difficult than optimists anticipated.

 

James Evans and colleagues wrote:

 

The numerous genetic variants that mediate disease risk typically confer woefully low relative risks . . . and are thus meager in their predictive power.

 

[S]tudies demonstrate that even combining dozens of risk markers provides little clinically meaningful information. In the public health realm, the prospect of effectively stratifying populations as high or low risk, thereby guiding screening, is equally dismal.

 

For common diseases, by definition, we are all at high levels of absolute risk. In this setting, defining precise relative risk on the basis of individuals' genetic information is less meaningful; interventions that lower risk will be useful to everyone, regardless of their relative risk.

 

And for rare diseases, shifting an individual's risk from an already low level may not be very clinically meaningful. For example, the lifetime risk for an individual in the United States to develop Crohn's disease is about 1/1000. How helpful is it for clinicians and patients if that risk shifts to 1/500 or 1/2000?

 

© 2011 James P. Evans, Eric M. Meslin, Theresa M. Marteau and Timothy Caulfield, Deflating the Genomic Bubble, Science  331(6019): 861-862 (18 February 2011) (paragraph split, footnotes omitted)

 

 

So why do people keep inflating the coming wonders of genomic investigation?

 

Evans et al. are as realistic as I am in regard to the grip money has on medical entrepreneurship, research, and academia.

 

Research grants, jobs, and glory depend on a certain amount sensationalizing.  Commercialization, by socially accepted practice, almost always exaggerates claimed benefits.  Short-term profit and research thinking characterize a system in which private and public resources are directed by the pressure for “quick payoffs.”

 

 

Any hope in genomics and drugs?

 

Yes.  To the degree that genomic exploration uncovers disease mechanics, we are a step ahead.  But designing drugs or alternative ways to treat these disorders will take decades.

 

What people generally don’t recognize is that seeing what is wrong is different than knowing (a) how it got to be that way, (b) theoretically how to reverse it, and (c) translating theory into workable and effective practice.

 

 

Evans' article implies that genomic research squanders money with functionally little practical benefit to show for it — behavioral research may be a more productive use for some of these funds

 

The obvious is often motivationally unappealing, simply because it is easily available and lacks glamor.

 

Evans points out that most of the disease burden in developed nations comes from being sedentary, smoking, eating and drinking too much.

 

If we invested in research that showed us how to keep people active, smokeless, un-obese, and sober — we would more significantly reduce overall disease burden, than genomics could do in the medium-term future.

 

He concludes that the fact that we spend greatly more on genomics than on behavioral research, regarding common life-style originated diseases, is backwards public health and medical prioritization.

 

 

Cynically, however

 

If everybody stayed healthy, what would happen to the medically-related economy?

 

I doubt that the Evans team’s sensible insight is going to affect policy.

 

Sick people, especially a high volume of self-made sick people, are good for capitalism — especially in the United States, which doesn’t manufacture proportionately much of anything useful anymore.