Genomics: Sharpening the Cutting Edge of Medicine


March 20, 2013

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Editor's Note:
At the Future of Genomic Medicine conference in March 2013, leading experts in genomic research and clinical application discussed the expanding influence of genomics on the practice of medicine. Medscape asked Eric J. Topol, MD, Editor-in-Chief of Medscape and Director of the Scripps Translational Science Institute, to share his insights on what the future will bring.

What most excites you about the future of genomics and the future of medicine?

The future of medicine is the future of genomics; they're tied together. It's about digital medicine; it's about being very precise with respect to diagnosis, therapy, and, for the first time, prevention. Knowing so much, like a Google map of each human being, and genomics being a big part of it, sets us up for a whole new opportunity as compared to the waste, mistakes, and issues that we have to confront in medicine today.

What are the biggest obstacles to progress?

Our problem is that we shoot ourselves in the feet. That is, the medical community is resistant to change; it doesn't see the extraordinary opportunity to embrace genomics and digital medicine to the extent that I hope it will. And there's a knowledge gap. Genomics is really a new field. At [the Future of Genomic Medicine] conference, we have an immersion in genomics, but there aren't many of these conferences around the country that focus on applied genomics and how it will change medical practice. We need to get that out there and get rid of that chasm of knowledge of issues. It's not going to be an improvement in reimbursement, but it's going to help the whole health system by making it so much more precise and individualized.

Which innovations, either currently available or in development, will have the biggest impact on medicine in the near future?

Sequencing for sick people in the sphere of genomics is a really big deal. For cancer, it's being able to sequence not just DNA but RNA, and perhaps even other "-omics" to establish the right therapy. In the past year, there were 12 new FDA-approved therapies for cancer; of those, 11 had a price of greater than $100,000 per treatment. We can sequence -- and in multiple ways define -- the biology of each individual for a very tiny fraction of the cost of the drug to make sure that the drugs that we're giving are the right ones, and then we get the desired outcome.

That's a big change in the way we practice one part of medicine. But another is the unknown diseases, which we've emphasized a lot in this program, whereby we sequence someone who has gone through the odyssey of the million-dollar-plus workup at multiple medical centers. Now we can sequence them upfront and find out what it is that's causing the illness.

When we have someone defined at a genomic level with an unknown disease, now we have that person sequenced fully. The opportunity to get to the answer quickly, to define the root cause mutation or variant in the genome, could be a whole new way to establish the path for an undiagnosed illness, long before it goes through this odyssey and extraordinary expense, as well as the morbidity of someone having to endure a very serious illness without knowing what it's from.