Placeholder Image

字幕列表 影片播放

  • 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.

  • I mean patient education used to be a brochure and a doctors office if you were lucky

  • On about five topics, What is diabetes? What is heart disease?

  • Some of the older people in this audience are shaking their head

  • and there was a very patriarchal attitude then that patients should not have information about