the Candid Conversations series is a collaboration between Scientifi c American’s Custom Media Division and its selected sponsors YOUR HUMAN GENOME THE GENE SEERS: Q&A WITH GREG LUCIER & JONATHAN ROTHBERG OF DNA & THE DAWN OF DIGITAL MEDICINE MEDIA DIRECTOR: JEREMY ABBATE ART DIRECTOR & ILLUSTRATOR: JOELLE BOLT Q&A WITH GREG LUCIER & and it’s what allows you to have a camera caught up somewhere around 2014, and help a doctor to access and interpret ge- in there. We made a chip that saw chem- then the progress and cost of sequencing netic information with more expertise. THE JONATHAN ROTHBERG istry instead of light! That was the key will progress along with all other costs The other reason is because the more se- “aha!” moment. that are driven by Moore’s Law. quencing we do of individuals and the GENE erhaps the most exciting frontier in medicine today We’re leveraging that trillion dollar more we correlate gene sequences with is the emerging fi eld of personal genomics: the use investment over the past 40 years in Q: As you know, one of the concerns of- their medical records, the more we of detailed knowledge about a patient’s individual those chips, and the same supply chain, ten voiced is that sequencing technology know. If I sequence one person, I don’t SEERS: genetics as a guide to better prevention and treat- and of course, the same Moore’s Law. may start pumping out genomic informa- know anything. But if I sequence ment. Much of what makes it possible are the rapid That’s why it was inevitable that we’d tion faster than we know what to do with it. 100,000 people with cancer—or with improvements in the sequencing technologies that get the cost for sequencing a whole hu- That we’ll be wallowing in sequence data cardiovascular disease or with autism— determine the precise arrangement of paired nucle- man genome in a couple of hours down that we can’t interpret intelligently, and and I have their medical records and I otide bases in someone’s DNA that defi nes his or her genome. to $1,000. And that’s why we selected that this will prove counterproductive to understand how they respond, I could PBetween 1990 and 2003, the U.S. federal government spent Gordon Moore himself [co-founder of people’s health or well being. You seem to know all about complex diseases. roughly $3 billion to produce a fi nal draft of the fi rst human ge- Intel, for whom Moore’s Law is named] be more optimistic. Recently, I raised that same problem nome (and to amass a wealth of research fi ndings vital to mak- to be the fi rst person to be completely se- you did to a group of 16 computer scien- ing sense of it). quenced with the technology, which we rothBerg: I’m optimistic for two reasons. tists at Carnegie-Mellon who contributed This year, the price for sequencing a genome will fall to just published in Nature last year. One, Life Technologies in particular is three of the modules to Watson’s memory, $1,000 with Life Technologies’ new Ion Proton technology. putting a huge amount of work into it. and they told me that I shouldn’t worry Medical policy planners have long considered the $1,000 Q: So, as with Moore’s Law in computing, We have a new effort with Carnegie-Mellon about it. They felt reasonably confi dent price tag to be a crucial threshold because it puts the cost of se- should we expect to see the cost of sequenc- quencing a genome roughly on a par with that of an MRI ing continue to drop? scan—which greatly improves the chances that insurers might reimburse for it. rothBerg: Absolutely. It’s something I “One in fi ve cancer drugs is effective To get their perspectives on personal genomics, we spoke have to fi ght constantly, but people keep with Greg Lucier, the CEO and chairman of Life Technologies, saying that DNA sequencing is going today. That is just not an acceptable rate.” and Jonathan Rothberg, the CEO of the company’s sequencing faster than Moore’s Law. That’s an illu- division, Ion Torrent Systems. This conversation is edited from sion. With the switch to new, CMOS- several interviews and discussions that took place in the days based methods, we’re just catching up to University to develop better artifi cial in- there was enough progress going on in surrounding the Digital Health Summit at the 2012 Consumer what 40 years of accumulated Moore’s telligence agents, like Siri [on Apple’s using unstructured data to apply it to Electronics Show (CES), where Life Technologies debuted its Law has done for progress in electronics. iPhone] or Watson [IBM’s Jeopardy! genomic information and to mine for new Ion Proton sequencer. We estimate that we’ll probably be fully game–playing computer], that would relevant answers in pathology reports, radiology reports, and so on. The tools could interact with physicians to help them along the way. THE CONVERSATIONALISTS: whole new level of information that cord. We’ll be tracking patients and look- Q: You’ve mentioned that in applying our Jonathan Rothberg is the CEO of the doctors can use to make decisions with ing for correlations between their genes newfound genomic information to specifi c Ion Torrent division of Life Technologies their patients. and their illnesses and how well they re- problems, cancer is low-hanging fruit. Greg Lucier is the Chairman and CEO The ability to read the molecules in sponded to treatments. Other patients What makes cancer so well-suited to be a of LifeTechnologies our body as digital information certainly and their doctors will be able to see ano- target? falls into this interesting, more general nymized forms of that data and benefi t arena of monitoring the body digitally. from what it helps to explain. So in this luCIer: Cancer is a disease of the DNA. It Q: It’s interesting that Life Technologies Genomics just takes that to the nth degree, digital era, I’m very encouraged that col- is a bit ironic that we haven’t been read- has chosen to make this momentous an- the next level. We’re becoming more and laborative medicine driven by genetic in- ing the DNA until now. But here we have nouncement about reaching the $1,000 more engaged in our own wellness, and formation will lead us even faster to ways a tool that will help us to see the very genome here at the beginning of the CES, electronics is enabling that. We saw many to improve patients’ outcomes. thing that’s causing the disease, and in where people would traditionally expect other applications here at CES today for the future the physician can match up to fi nd out about new TVs, computers or physiological monitoring, EKGs, and rothBerg: First, I agree with Greg that the specifi c defects in the DNA with the appliances —not about cutting-edge bio- things of that nature. So it’s a very excit- this digital genetic information will be right therapeutic to help an individual medical technology. What’s the signifi - ing vector for this CES, and I think you’re part of your medical record that also con- patient with a particular malignancy. cance of doing it here and now? going to see it grow quite demonstrably tains the digital information from your One in fi ve cancer drugs is effective in the future. CAT scans, your MRIs, pathology re- today. That is just not an acceptable rate. luCIer: If you look back in history, most In the past seven years we’ve learned ports, and so on. So partly we’re here be- And cancer progresses; time matters. revolutions happened when a tool was more about the origins of disease at a ge- cause your genome sequence is going to Having an accurate ability to read the created to make them happen. I think netic level than we did in the previous 30. be part of your electronic medical record. DNA and to select the right therapeutic that’s what this announcement about the But for genetics to really have an impact Second, in our sequencing technology, in a timely fashion could make a world of $1,000 genome is today in terms of put- on health, we’re going to have to enter we leveraged the same CMOS technolo- difference. ting us on the path to genomic medicine. into an era of collaborative medicine in gy that enables essentially all the devices You can’t believe the groundswell of It allows this to happen in a very fast, which patients get sequenced and it be- that you see on the show fl oor. You have a referrals I get, people calling me constant- economical way and will bring about a comes part of their electronic medical re- chip in your cell phone that sees light, ly: “I have a brother” or “I have a cousin, cc2 a sponsored collaboration with a sponsored collaboration with cc3 2 1 Growing DNA takes up Micro- 3 nucleotide machined wells Ion-sensitive layer + Hydrogen ion H is released Proprietary ion sensor THE INSIDE STORY OF A SEQUENCING CHIP nventors don’t always recall exactly how or when they unimpressed response was, “Sure would be more lucrative to 1. the life technologies’ chip-based technique sequences genomes in a had the “eureka!” moments that led them to their read minds.” massively parallel way.