“State of Science part 2”

James P. Evans, M.D., Ph.D.

* Clinical Professor and Bryson Distinguished Professor of Genetics and Medicine
Department of Genetics, University of North Carolina, School of Medicine


“Okay. So Bruce and I will have to talk offline about whose field has more potential to fundamentally undermine Western civilization.

It’s a real privilege to be here. Thank you very much. Before I launch into DNA sequencing and what it’s good for, I think it’s probably appropriate to get everybody up to speed on really what DNA is and why sequencing might be of potential interest.”

“What you are essentially doing is instead of carrying out that reaction in a single test tube you’ve got a grid here with about 10 million tiny wells and you have those sequencing reactions going on in each well at the same time. Thereby, you can, using very sophisticated computer analysis, assemble huge amounts of DNA information.

This accelerating technology and the plummeting cost has only one corollary that I’m aware of and that’s consumer electronics. The geeks in the room will recognize this as the very first PC. It was brought out in 1977. It’s the Tandy Commodore PET 2001. It cost about $3,000 in those days. Of course, our smart phones now have about eight million times the memory of that original PC. Gene sequencing has gone in the same direction. You saw a similar plot that Francis showed you. It’s even beating Moore’s Law now in the last few years.”

DNA is deceptively simple. It really has only two jobs in the living organism. It serves as a store of information ensuring that our information is passed to each new cell upon division and likewise passed to the next generation and it directs the synthesis of proteins which are vital to carrying out all of the functions of a living organism.”

“These kinds of studies will undoubtedly shed light on the genetic underpinnings of every disease imaginable and they will ultimately transform medical science. It’s extremely important as we think about application to remember that medical science is not the same thing as medical practice.

The fundamental challenges that we face as we begin to apply it oftentimes boil down to this simple fact: medical science certainly is the indispensable foundation of medical practice but it’s far more complex. There are far more variables. Individual values matter and they differ between people.

Theory alone is insufficient to guide practice. We can’t just think something is a good idea and implement it in our patients. We need evidence. The timeline for translation is long and successful translation into practice is not guaranteed by scientific understanding. This is most heartbreakingly demonstrated in my mind by the case of sickle cell anemia. ”

“It’s also far more expensive and the stakes are much higher in medical practice because we can do active harm to people. Where does the clinical promise of genomics lie? I would say that it’s not in simply assessing risk.”

“When one starts to look at a powerful technology like whole genome sequencing and what are its uses, we oftentimes hear the adage, hear it derided, justifiably sometimes, as when you have a hammer, everything looks like a nail. That is certainly true.

We shouldn’t indiscriminately wield this hammer of next generation sequencing. The proper question then is what’s the right nail for sequencing technology? I think there are two nails that are ready to be hit by this technology. ”


“A quick question. I think I might be in the position of agreeing with my MGH colleague that you will bring down Western civilization quicker. That’s coming from the background of a physician and also a microbiologist, which is informational precision.

All of the issues that you both described, I guess I’m seduced by the simple language of DNA in terms of all the imponderables that come from seducing three billion bases understood.

A lot of the very exciting technologies that you showed us I think are probably a bit more difficult to categorize. How do you deal with that knowing that both fields must interact with each other? They already do.

How can one find commonality between the more — I would wager, maybe this is provocative — the more precise information that comes from the identification of the linear sequence of nucleotides versus all of the wonderful functional and anatomical data that you show from neuroimaging?”


“I think the only way to tackle that is through cross-disciplinary dialogue which there is not much of right now. I think we really need to foster ways of figuring out how genetics informs neuroimaging which is probably the direction it will go.

I think part of the problem is we speak different languages so it means we have to bring people together to do that. I don’t think there are easy answers.”

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