Subtitles section Play video Print subtitles Good evening, ladies and gentleman. I'd to welcome you to tonight's event and uh I'd like to thank you for uh for attending. Uh my name is Brandon Allgood, I'm a UC Santa Cruz trustee and one of the co-organizers of this evenings event. Um before we begin, I wanted to say uh say some things uh real quickly to the UCSC staff that have done a lot of work to put this event together As well as QB3 for co-sponsoring it and uh allowing us to use their space here. Um tonight's, oh before I begin, uh another, I also wanna acknowledge two groups that have that have co-sponsored tonight's event, the UCSC Entrepreneurship and Business Group and the San Francisco, Bay Area Slug Attorney Network. So... [Laughter and applause] Uh welcome to those groups and thank you for your sponsorship. Um tonight's subject is one that uh I've personally been been thinking about a lot um over the last couple of um over the last couple of years uh there's been you know, we're really on the on the verge of the age of personal genomics and through the advancement of science, uh you know, we will see in the next 5 to 10 years uh new treatments for diseases and uh new, possibly and hopefully, cures for disesases. Diseases that plagued plagued humanity um but you know, I feel that through that there's an advancement of science but there also has to be an advancement of of public discussion, about not only the power of genomics but you know how how we deal with genomics as a society Um and I'm excited for the panel this evening and hopefully panels like this are are are will help advance the discussion uh in the public and so that so that you know, in a number in a number of years when geno... when you can get your genome sequenced for you know, I dont know, David will probably give the dollar, the dollar amount when he comes up but uh you know when you go to the doctor and you get your genome sequenced uh just as a matter of fact that that we also have we also have uh we also have things in place uh laws and and and what not to protect patients and to help also to help science move forward. So... uh its my pleasure, to introduce a man that uh I think needs very little introduction uh, David Haussler. Doctor Haussler is going to be kicking off this evenings event talking a little bit about some of the science behind personal genomics Uh doctor Haussler is an investigator at the Howard Hughes medical center, uh Medical institute and director at the center of Bio-medical Science and Engineering and a distinguished professor of Bio-medical Science and Engineering at UC Santa Cruz. So please join me in welcoming David Haussler. [Applause] Thanks so much Terrific, thanks thanks so much. and and and thanks to uh to Jenny for organizing this, this is a very exciting opportunity and we have a a very important subject matter here. There could be no more exciting time then now to be involved in science and especially science as it relates to medicine and other things that are very deeply affecting our lives. The fact is that 3.8 billion years ago there wasn't DNA. Since then its been pasted on from parent to offspring through all of these eons and its in your bodies right now. [Laughter] Scary? huh? The people, people had this thing about DNA like it has uh you know this special magical powers or theres aww and so forth. Its in your body and and making a lot of what you are. So what does it mean to be in the era of personal genomes? Well it was just 12 years ago that we realized a dream, we the the human race realized a dream that actually began with Bob Sinsheimer and others like him. and I'm very pleased that Bob is here in the front row [Applause] To actually read that sequence of DNA That message that was passed on for 3.8 billion years, the audacity of Bob's first proposal to actually do that caught the scientific community by surprise and that turned into the human genome project. And it, a particular source of pride for UCSC. That the results of that project, the first sequence of A's C's T's and G's 3 billion of them, From the first individual who was sequenced was posted on the internet on July 7th from the University of California, Santa Cruz. That is the first time that humanity got its glimps of this DNA message that had been pasted on for so many eons and its the first time we had a chance to really look at it and understand it. We looked at this as a representative of all of humanity because we are 99.9% identical to each other. It was essentially a universal map of humanity and our molecular heiratige. It cost an excess of 100 million dollars to produce that first sequence. as you see on this chart and that's just from chemical reactants and the machines and so forth that were used. The project itself was almost 3 billion dollars. This technology has been the most dramatically improved technology of any I'm aware of. If you see the white line here. Thats Moores law improving by a factor of 2 every 2 years. That took us from computers of the 50s to computers today. The gold line is the improvement in DNA sequencing technology from this time. What cost 12 years ago, over 100 million dollars, next year will cost 1000 dollars. Hundred, thousand times improved. a project with the Long Now Foundation with a mission to provide deep ecological enrichment through extinct species revival Yes, pretty interesting stuff will have to have another panel on that ah (laughs) She currently serves on the Board of Directors of the Personal Genome Project, which aims to sequence and make public, the complete genomes and medical records of a hundred thousand volunteers in order to enable research into personalized medicine A proud graduate of UC Berkeley Please welcome Ryan Phelan (applause) Um And ah sorry I didn't have the right order Ok and Gail Jarvik, sitting next to Ryan and me Gail is the Head of the Division of Medical Genitics and the Motulsky Chair Professor in Medicine and Professor of Genome Sciences at the University of Washington Medical Center up north In case you were wondering where it was Doctor (laughs) Doctor Jarvik I'm I'm from Kansas City, you know, you think of these things Um Doctor Jarvik specializes in the mathematical genetics of complexity um complexity inherited, sorry complexity inherited human diseases, such as Cardiovascular Disease, Dementia, and intellectual function and Cancer She is actively investigating the implementation of genomics in clinical care So this meeting of genomics with medicine which is all critical at this moment Both through her leadership in the Emerge Project, which is a nationally founded project to figure out how we should, when we should link electronic medical records to genomic data Um as well as in the National Clinical Sequencing Exploratory Research Consortium, which applies high three-put sequencing to clinical care Thank you for being with us here tonight, Gail And please welcome Gail Jarvik (applause) Ok, so, um as the panel knows, but I just want to fill in the audience What we are going to do is, I am going to pose, um, ah, a question Ah each, to each of the panelist and they're going to have the chance to respond to that so the rest of the panelist will chime in with any responses that you all might have to that question Um so there is one question specifically written for each of the panel members to bring different expertise to the table Um and then I'll have one question at the end that is posed to all of them and then it will open up to you all to have a chance ask questions Ok So that's the basic format Ok, so, um, I, my first question is to you, Gail Ah, turn around here, can't see you well Um, so Ah, so as David has mentioned, um, and as I just recalled We've seen huge progress in sequencing genomes in the last five years and so now it's a reality that the genomic data is potentially there for, to be used in medicine And this is a huge, scientific and technical feat that we've managed to do that And to do it as cheaply as we can So, what I want to ask you is where we're at in the next big challenge, which is how do we make this sequence meaningful for medical care? What at the moment is the medical value of, which you say, of genomic information and how should the medical system respond to that, um, that value in this moment? Should patients have access to their genomes, and if so in, in what form? So what, basically, what is the value of this information right now? And then the converse part of that is, as we find, well I am going to let you answer that and then I'll ask you the second one (Panel Member) (laughs) That's a good place to start What is the value right now of the genomic information? (Gail) So, really, in a current utility because it is a fast moving target So I've been a clinical geneticist for over 20 years and much has changed in that time And right now, we're just to the point where we are using whole genomes in the clinic And at University of Washington we're very lucky to have, ah, very good genomics and we are a center for clinical sequencing We have one of six national grants to apply that sequencing into clinical care So we're actually doing a randomized control trial of patients with Colon Cancer, where half of them would get usual care and half of them where doing what we call, exome sequencing, so sequencing all the coding regions of the genome But that's a partnership model And we have both things going on in the real world and the fact is there are really compelling arguments from both ends of that spectrum But you can't play both games at the same time and have to make choices So, I think this is a scenario where we don't have the right answers. Maybe we will if we discover some of these things make mistakes or bad things happen But we don't know where that's going to happen right now. First of all, I think what you're doing is from a clinical perspective. Right. I actually found my APE4 status from a cardio panel. Because they didn't think about the Alzheimer's aspects of it when they returned it. So, I got the Berkeley workout and they told me I had a APE4 variant with no genetic counseling. When I found the same thing out through my 23 and me, I had to go through a complex set of pages before they allowed me to see it because I mean, if I only had one copy but it increases my odds of Alzheimer's from 7% to 14%. And so making sure you don't do that accidentally is actually important. I fall on the general other side of it as poeple who are sick or have family members who are sick can access these technologies outside of the institution. They are going to. So, there is a massive over investment in the cordunomics facilities. So now you can buy these services. There's actually online market places that let you get PCR and sequencing from condunomic facilities that competetive bids as an outsider with no credentials. So groups of people will come together and sequence themselves if the system isn't doing research on them. Though, they will get these files and hand them to researchers and mathematicians. And a lot of bad decisions are going to get made as a result of that. But if you are not a part of the existing clinical research system anyway this is a ray of hope. It may be a false one; but, just 2,500 foundations do at least 100,000 dollars in research in the U.S. privately. I'm starting to think that giving it to academics is not the best way to spend it. Right, so Pulling people, generating data, and getting that data to mathematicians is becoming a credible alternative Who explains it to the subject? Nobody does, they come together and commission it themselves. It's outside the entire system. But is it reasonable to say that I'm going to pay 5,000 dollars And, I'm going to get a genome back to me And I'm not a geneticist. I may be a college professor in economics and I'm certainly probably not a Fireman but someone has to put it in context. "Is it reasonable?" is a different question that "Is it happening" Oh sure, It's happening! But, if you think about the broader context from my stand point as a clinician. We have people coming to clinic to have their Direct-to-Consumer genetic test explained to them because they are not adequately explained. And we have a flood of completely healthy people who are now medicalized by a choice they made. And a choice that they had the right to make. But then, you know, Is it the insurance system's burden to pay for those visits? You know, there is a lot of downstream costs of that. So, I'm not against that point. I think that you should talk about the pluses and minuses. I'm going to get to that in my question. My question whether or not if its reasonable. But, like the very thing that is reasonable about what the clinical system is doing is pushing patients to do it theselves, outside of the clynical system. And that has a significant impact of its own. I'm just going to tell a funny little story and move onto Ryan's question. Um, the machine, Um, the little machine, the sequencing machine The desktop sequencing machine that was recently made that you could buy for like $50,000. I was talking to someone who was selling those and he said he was the company was working with the company who makes the mini's. You know, that little car. (BMW) Uhhhhhhhhhh, yeah. Is it BMW? They were going to a marketing thing together where there was going to be an add where, you drove to the beach in your mini with your sequencing machine and you did your sequencing at the beach. This was within their realm of imaginaries. Okay. So, this brings me to my question to Ryan, whos been in the bussiness of figuring out what is meaningful not just medically but also from a bussiness side So, I'm going to ask you about both sides of that, and also from your consumer advocay side. So, I'm going to start with the consumer advocacy point. So start with plain trees. So you have a lot of experience working to get patient's access to information. First through this brick and mortar library. And then through to the company that you built that ended up being webMD. that was extremely popular. What has your experience been when in 2005, you moved into Genomics What was different about this information? Was there something different about this information? WebMD was enormously popular. Genomics hasn't been that popular. It's a really good question and I would say that when I was initially, and this was 20, 30 years ago thinking about helping patients getting access to medical information. It was really new terrain.