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Genes, John Wayne and Population Health

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On the final day of TEDMED this year was unveiled Ozzy Osbourne's genome. There, for all to see, was the metal-rocking Prince of Darkness rendered in genetic code. And the question his lovely wife Sharon wanted the unveiling to answer was how could this man have survived this long, considering the decades of abuse his body had endured?

For one part of the TEDMED audience, this was an important question. Not because they had partied as hard and as long as Osbourne had, but because the essence of her question--what information is there in my genome to help me live longer and healthier--is compelling to many of us.

The unveiling did not reveal much. Highlights included finding out that Osborne was descended from Neanderthals and that he has several nonfunctioning genes for detecting odors. The total cost for sequencing Osborne's genome and the resulting knowledge? $40,000.

For another part of the audience, this was an important problem. With a high price tag, its emphasis on the individual and the near-term potential to increase disparities in medical care, this focus may be holding us back from achieving the kinds of gains we want in overall health for our population. Or, as Stanford's B.J. Fogg framed it so simply and eloquently from the audience at TEDMED, perhaps it's time to start asking: "What is the smallest thing we can do to help the biggest number of people fastest, opposed to what is the most remarkable thing we can do to help one person sometime in 10 years?"

We have tendency to polarize in our public discourse, and it's easy to do so on this issue. On the one hand, there is the vision of personalized medicine, that is, a customized "blueprint" for care based upon our individual and unique makeup. This vision taps into our ethos of individualism and it fits neatly with our current model of medical care. Think John Wayne in scrubs. On the other hand, as a nation struggling with waves of diabetes, obesity and heart disease, we can improve the health of a lot of people with population-level interventions. It's efficient.

There's another path, one that assumes and embraces a dynamic tension between the drive to personalized medicine and our national interest in population health. Yes, our exploration of our genomes will produce knowledge that enables targeted, personalized care. But aggregated, it can also produce knowledge that will advance our understanding of population-level health problems and present new opportunities to address them.

You could see the seeds of this in Craig Venter's talk at TEDMED when he mapped-out the future of care as a convergence of genetics, microbes and the environment in which people live. At the Robert Wood Johnson Foundation's Pioneer Portfolio, which supports ideas that have the potential to leapfrog over existing approaches to health and health care, we're exploring much of this intersection through a grant we've awarded to Kaiser Permanente. We're supporting their Research Program on Genes, the Environment, and Health, an effort to create a massive database that twines together genetic, environmental, lifestyle and healthcare information. Such a database will provide researchers an unprecedented ability to determine which genes, environmental factors, lifestyles and habits are linked with specific diseases and health conditions affecting millions of Americans.

We need to recognize that while many of the forces driving our exploration of the genome are, frankly, self-centered, the exploration can produce knowledge that can be focused at the population level.