 Welcome back to the afternoon session. I'm Mark Geyer. I'm the director of the division of extramural research at NHGRI. And I'm going to take over moderating this afternoon so that Eric can relax, which is an oxymoron, if I ever heard one. I'm going to just continue with the approach that Eric began and invite our panel members up and introduce Sharon Terry, the president and CEO of the Genetic Alliance, who's going to moderate the panel discussion. Thanks very much, Mark. And thanks to the planning committee for a really wonderful day so far. And I think the afternoon will be equally wonderful. The brilliance of the planning committee, you all can take your seats. It's such that they were wise enough to know that the people and the various forms of association with their own genomes needed to be part of this symposium as well. And I come to this because I have two children with a recessive disease called pseudosanthomaelasticum. I'm a college chaplain by trade, but now very much in this world and very happy to be part of it. I am also very much in association with all the information we watched this morning and waiting, just like much of the public, for the kinds of solutions, therapies, tests, et cetera, that we hope to see. My brother died of glioblastoma multiforme, so I was happy to see that as an early entry into the various programs. And then I'm very good friends with Progeria Foundation and several of the others that we've mentioned so far. I'm also a person who did 23andMe almost as soon as it was available and more recently enrolled in ClinSeq, which we're gonna hear a little bit about today. So I'm very interested in our own genome and what we can do with the information. I'd comment that I think collecting samples as we go, that certainly was mentioned several times this morning and said to be very difficult will be just like many of the other things we thought are going to be very difficult, and that is it won't be once we allow the right systems to be put in place, including the involvement of citizen scientists, people who understand that they need to be involved and by that I really mean all of us, that every one of us, especially through social networks, will begin to understand the importance of being available for science in various ways. Today we're going to hear from a number of individuals who have had their genomes sequenced and who have a great deal of interest in understanding this on an individual basis, and we're gonna ask them to answer two questions in a very brief introduction that they're gonna give us, then we're gonna ask them to ask each other questions, and then we're gonna invite you to ask them questions. So this particular panel which lasts about one hour is gonna be a little more interactive than some of the other sessions, so you should be ready to ask these individuals anything you want. I'm also gonna dispense with formal introductions and just give you their names and affiliation, and I'm also gonna give you the order in which they're going to appear, although they're here already. So first we're gonna hear from Dr. Steven Sherry of the National Library of Medicine, then we're gonna hear from Rick DelSantro from who's a ClinSeq participant. We are also gonna then hear from Misha Angrist from Duke University, and then finally from Dr. James Watson from the Cold Spring Harbor Laboratory. Again, each of them will take about five minutes to introduce themselves, and then we'll move into some conversation amongst them and then some questions from you. So Steve, if you could begin. Thank you, Sharon. So I guess I would like to say, I'm excited about the promise of biology and genomics, and I've done this professionally for about 10 years, 13 years at NCBI where I've helped develop variation resources, DBSNP and DBGAP being primary among them, and so I've had a scientific relationship with genomic information for my whole professional career and have watched with curiosity about how the consumer reagents are being developed and what this could mean to me personally. I have not participated in a medical research study before, but this year, 23andMe put the genome typing kits on sale for Christmas, and so I bought them for my family and thought that this would be something neat to give my parents as a Christmas present, they have everything, and so what do you give them? Now it's going to be an obsessive set of questions about their drug sensitivity to statins and to all sorts of things. I haven't received my results yet, so unlike others on this distinguished panel, I don't have a lot to say about how this has changed my thinking. I can maybe speak briefly to why I decided to do this site from the trivial curiosity. In developing these catalogs, these resources at NCBI were very concerned about the relationship we have to participants in medical research studies. Their volunteer spirit, their trust is essential to the relationship in scientific research, and so we're trying to ensure that the resources we develop at the Library of Medicine are responsive to their needs as well as to the needs of the research community. What we imagine is that going forward, genomics are going to be more available to consumers, and but it won't be every consumer that's coming forward to look for information. Most likely there's going to be a key person in each family who took biology in college or knows some genetics and will be the person that is the authority in a family relationship to go to person to say, interpret my genetic tests. In my personal experience, my parents have come to me and said, you know, my father has a degenerative brain condition. What does this mean? You know, they're a test, and so I'm looking at OMIM now, not as a theoretical researcher making sure the information's complete but trying to interpret the data personally for my own family members. And so I'm thinking that the more I can become engaged with 23 and me and these other information providers that are digesting information, that it will help us inform our design decisions and the resources and the information structures we provide at the library because we're trying to serve everybody, taxpayers included with the research community. It's kind of my over, I'll stop there. Great, thanks very much, Rick. Well, I come at it from a completely different angle. I'm not a scientist, I'm just a layman. My story's kind of interesting. I bought into the myth that if I was physically active, if I ate properly, if I kept my cholesterol in check and had low triglycerides, and you know, I was on the road to success. And having had a mother who died at age 69 during her third open heart surgery, having had a grandfather who died of heart disease as well, who was one of the first 100 people to get open heart surgery, I was always sensitive to that. And a few years back, I had a sister at the time, was I believe 48 years old, and she started to feel not right, so she went in and she saw a doctor who sent her over to see a cardiologist. Long story short, she turned out that she had three blockages. Two of them, they stented, one they did not, and she strongly encouraged the family to go get checked. Now I come from a large family, there's eight children. Interesting note, my sister's cholesterol level, combined cholesterol level was about 104, and remains there today without taking statins because her body doesn't do well with them. So anyway, on that, I went to see my doctor who, again, I'd seen for years just a regular practitioner who put me on a treadmill with an EKG machine, which basically was only gonna tell me, I guess, if I was about ready to keel over from a heart attack. So I checked out fine and went home, and I had a brother at the time who was 38, cholesterol level roughly 150, low triglycerides, physically active, and he went in and got a nuclear stress test. They didn't like what they saw. Did a catheterization, he went in for emergency double bi-surgery at the age of 38. So I panicked, went, saw a cardiologist, and he walked into the room and looked at my file and said, what are you doing here? And I said, look, just let me tell you my story, and if you really want me to leave after that, I'll just leave. So I told him, and he thought it was interesting, and told me to go get a heart scan done, in which I did, and came back and said that my calcification was through the roof. So at that point in time, I went through a number of tests. He said the only way we'll really know what's going on is if we do the catheterization. That's the only way you'll get any peace of mind. So I did. And fortunately for me, none of my blockages were severe enough that they needed to stent them. And as I was lying there in recovery for, I think you had to lie on your back for four or five hours, someone came over to me and said, you're doing a study over at NIH with ClinSeq, and you might be interested in this, and you might be a good person, a good candidate to go over there. So I called and called, and somebody finally called me back, and I said, yeah, I'll participate. Well, they were busy doing research, you know? A lot of DNA out there, you know? So anyway, I went in and told them my family history, and they were a little giddy about the whole thing, to be honest with you, as I was going through and telling them what had gone on and what was going on. And so they did a bunch of tests that day, and about a month or so later, I got a phone call, and I really didn't understand, but I could tell that they were excited about something. And they said, you know, we think we've come across something pretty interesting here, and I, okay, great. And they said, do you think your entire family would be willing to participate in a study? I said, sure, but they're not all here local. They're like, oh, don't worry about it, you know? Just see if they'll come in and they'll participate. So, you know, I got in touch with all of them and said, would you guys be game? Go in for a study. They're doing a study on, you know, heart disease and your DNA, and, yeah, okay, they'll go. And so I think from there, it's sort of his blossom, is the best way I can put it. This study has gone layers and layers now, and in fact, I was just talking to Dr. Besicker before I came in, and they've done some, you know, family history, and they've traced ancestry back to Italy, and I think he's gonna be going over there to make a trip, and they've now tested extended family cousins and things of that nature, and I personally have been fully sequenced, so I went through that, had no idea what it was. They said, wow, do you know what that is? I'm like, no, I have no clue what that means. So I didn't talk to Watson, I don't mean to, you know, I just, you know, sorry about that, I'm a layman, right? I'm just a guy. So anyway, they said, you know, as we go through the sequencing, we may come across things that we find do you want to know about them? And I thought to myself, yeah, I think I do. So they said, great, so I got a call one day right before Christmas, and they said, you know, can you come in, and we found something, and we want to talk to you about it, and I'm like, oh, okay, well, when do you want me to come in? Well, no, I'm leaving for the holidays, and oh, well then, the doctor's away for a week after that, and so it'll have to be like mid-January, and I'm like, oh, well, can you give me an idea of what you found? No, we're not allowed to do that. Oh, this'll be a good Christmas, right? So anyway, it turned out they found a condition called the HNPP, which, during the sequencing, and if you don't know what HNPP is, that's okay, because I didn't know either. But basically, I get numbness. I get sporadic stages of numbness throughout my body. It's been going on since I was about 20 years old. I had no idea what caused it. Nobody else could tell me what caused it candidly, and parts of my body could go numb for days or weeks or even months, and then ultimately, it would go away, and so I got to learn a lot more about that, and subsequently also got to learn some of the things that I potentially, I am a carrier for. Most of them seem to be obscure, so nothing really to worry about, but I've been asked before, how has this changed me? How has this impacted me? What does this mean? And it's really been interesting, because I did the study not necessarily for myself, maybe not even for my children, but for my children's children, because I thought there would be a point in time when you're born and there you have it, your blueprint's right in front of you, and you know what to do, and I liken it to using a GPS, right? So you're going down the road and you're gonna run into traffic, and your GPS is gonna tell you to take a turn the other way. There's nothing you can do. You're getting from point A to point B, but along the way, there might be better ways to go. There might be better things for us to do to prevent things or avoid certain situations, and so from my standpoint, I wanna know. I know that there's a lot of people out there that I talk to that probably say, look, I don't wanna know what's going on, but for me, it's been important to know. It's been very eye-opening. I will say this, the energy and the excitement of everybody on the staff at the Klinsey Study has been amazing. It's really, you're just very excited about the work that they do, and from my perspective, that's pretty neat. So hopefully, that's a good background. Probably took over five minutes, but that's my story, so thanks. That's a tough act to follow. So I got involved in this. I'm not gonna talk about clinical utility or even personal utility, but maybe existential utility. I spent from the age of 25 to 35 or so in a human genetics lab. I was a board-eligible genetic counselor, and then I studied a birth defect, and we actually found some Mendelian mutations. We were not a CLIA-certified lab. We could not give results back to those patients and families. Eventually, we became a CLIA-certified lab, but that sort of disconnect from the people we were studying always sort of stuck in my craw. And so many years later, I opened up Scientific American because there was a story in there called Genomes for All, written by a guy named George Church at Harvard. And I read that article, and I felt like here was a guy who was articulating many of the things that I had felt that the time had come to sort of start thinking about how do we put this technology out into the world? At what point do we start sequencing healthy people, like the gentlemen to my right? And so that sort of started this odyssey of me enrolling in George Church's personal genome project and getting my genome sequenced and living with it and making it public and thinking about the implications of it and spending a lot of hours in front of Excel spreadsheets and learning a lot about next-generation sequencing technology. And so here I am. It was now, I think, almost five years ago when the founder of 454, a new company of high throughput DNA sequencing, came to my office, he told for me and said he wanted to... They had this instrument that would be able to sequence me at a reasonable cost. Then would I be the first person to be sequenced? And so I said, yes, right away. I didn't, and I said, you might as well make it public. But I don't want to know anything about the apolipoprotein-E, because I had a grandmother who died of Alzheimer's in late 90s, no, mid-90s, and it was pretty awful. So I didn't want to know anything about it. Then really didn't think about it. Then two years passed and they called me up and said you were half-sequenced. And we're working with the Houston Genome Center, Gibson, and George Wenslock was the key. And then with time, I went down to Houston and there was publicity for the Genome Center for the Baylor College of Medicine. And they told me I was heterozygous for a lot of bad genes. They said I had a variant of the breast cancer, Brekwan. But I didn't know what that meant and I don't think they did either. But they told me I was homozygous for something like a terrible disease, a DNA repair, like Calvin's disease. I mean, you just don't reach my age if you had that. So I just didn't think about it. But I did think that if I didn't know which variant I had in the breast cancer gene, so I thought I should tell my nieces because it is an awful gene. If you've got the Jewish variant and we're not Jewish, I didn't think I should have it. But I wanted to find out. But before calling them, I called Mary Claire King and my sequence is on the web. So she looked up and called me back, said you have a harmless Irish variant. How she knows that it's a harmless Irish variant, but so I didn't think about it again, didn't call my nieces and so didn't think much about it. And then someone called me up and deleted or let me know that you haven't deleted enough from your sequence. My haphazard, we really can tell what your apolipoprotein is. Do you want to know? Of course I didn't want to know. And I couldn't tell them don't publish it and they don't. But then the story is more complicated. Then something actually useful happened. An article appeared from Craig Ventures Lab which compared his sequence with mine with regard to the p-450s, the enzymes which metabolize drugs. And Craig was fine, but I had a very slow metabolizing form of two p-6 something. The one which not only metabolizes beta blockers but anti-psychomics. So it's an important one. And I had been put on beta blockers and they had put me to sleep and I had to go off them. And then suddenly I had the explanation that instead of taking one every day I should maybe take one a week, which I'm now doing and it controls my blood pressure. So that was extremely useful fact, which I wouldn't have known without it. It was also the question came up where someone said, well, in getting yourself sequenced you're gonna know something about your children. Do you have the right to invade their practicing? Okay, no, no, I mean that's the sort of thing that these bioethicists have nothing better to do with the thing about. And so, but it turned out my son I have a son who's schizophrenic and he had been given anti-psychotics after he had hit the doctor who was a Freudian. And I would have had any Freudian too. But anyways, he hit the doctor. A really miserable fat little man. And Chestnut Lodge is gone now but it was a place outside of what he did. And, but he went into neuro-leptic ligament syndrome and almost died. And I think we now have the expiration. He didn't metabolize the drugs. And so, it's a very useful fact. He doesn't want his DNA sequence but I know I was homozygous, so he's heterosegous. And it turns out probably the, some psychiatrists are really measuring this now before they give out their psychotic to schizophrenic people. So it's quite important. And if I was younger and living on an academic salary, I would certainly start a company to do just the cytochromes. Because no one who goes to a doctor's office for blood pressure should be given a drug without knowing whether you metabolize them. I mean, some people are, I'm a slow metabolizer. Some are super fast, they never work. So it would probably be cost effective for the big health insurers to do it. So, I think, you know, and then the only other thing is after, you know, remark I never intended to make, Kerry Steffensen announced in the London Times that I was, he had looked at my genome and I was 16% black and 4%, 6% Asian. And it didn't go with the pedigrees of my family. And he never published how he concluded I was 16% black and 6% Asian. Probably, you know, if the Asian probably means that, you know, one of the Watson's in Tennessee consorted with an Indian woman. And, but I just have no interest in it. So, you know, I could have followed it up and I haven't sent my DNA to 23 and me, which could give me really quite a good ancestry. But I'm afraid, you know, I live with the myth that I'm only English, Scotch and Irish, no Welsh. And, so I don't want it to serve, you know, it's a myth and why destroy my myth. They might discover I had German blood or something, you know, I wouldn't have wanted it. So, you know, that's where I am. I'm remarkably uncurious. And, but what I have been surprised is, you know, people really haven't looked at my sequence and written about me that they found out something. So, there seems to be a total lack of interest in me as far as I can tell as far as, you know, people giving me good or bad. Then it turns out the Alzheimer's is interesting. The one thing that 4-5-4 can't do is count P's, you know. And it turns out that the Able of a protein E, the key to it, the work of Alan Rosas, is adjacent to it is a gene called Tom D. And it's standing for the outer might of condryal membrane, it's a pore. And people have either a long or a, depending, it's very closely linked to the April. So, the three has its own Polly Tom T polymorphisms. And there's a long sequence of about 50 which is very bad prognostic for Alzheimer's. If you had that long sequence and you're three, you're gonna, no, probably 80% chance you get Alzheimer's. If you have the short one, you're pretty safe. And so, those would have never been measured. And you'd have to go back to Sanger's sequence to do it or Pacific Biosciences could do it. Craig having released his entire sequence and it would be interesting looking him up to look at his Tom T. And if I were Craig, I wouldn't look out. Because he's 60, you know, he's getting old. And yeah, people do, you know, bad for with the long Tom T means you've got a chance of Alzheimer's in your 60s. Thanks, Jim. No, anyway, so that's the story. So, but I think just to come back to the general point, I think DNA sequences would be known. I don't think the average person should really ever look at them. And I don't even think the average doctor can look at them. There's gonna have to be consultants that the doctor says, what's the message from the genome that I should, I can better treat my patient. And then the doctor has to show sense. I'm not telling you that you found out that you're gonna die of Huntington's disease. Because, you know, that's not good news. So, there's gotta be old fashioned medicine of common sense by which you only tell people things which are useful. And don't tell things which just are another reason for worry. I don't see any way to regulate it. It just depends on, I wouldn't want to regulate it. And it's complicated enough. I don't know how you can even get a certificate that you know you're competent to look at a genome and predict someone's future. Right, thanks, Jim. Okay, well, that's good. So, I think you keyed up a really good question. One that's very interesting one's been debated since genomes were available to those of us who are lay public and even those of us who are scientists but working in various fields. And that is the who should know what when and who should be telling who what. And I think of even there's a new tool up by 5 a.m. solutions called SNPTips. And essentially you download your 23 and me sequence and it flags every SNP you read about in any article and you can click on it and it shows you your variance. So, more and more there's tools that make it very much available to each of us to look at these things. And I wondered if some of you would comment on what do you think you should know? Who do you think should be telling you what you know or don't know? And also the kind of common perception at least among the scientific community that none of this is ready for what they say is prime time. I just talked to my parents last night about this and thinking about today and asking them what they hope to know when we do get our results back in a few weeks. And they're very interested in the pharmacodynamic set of cytochrome results and their sensitivity to drugs. They're in their 70s and they're starting to look at statins and other issues and want to know when findings come out about drug sensitivities or dosing is it relevant to them? And I think it's a great kind of personal use. And so they're I think looking for either their doctor to interpret the results or a professional that would be referred to a qualified professional. I don't think that that occupation is really fleshed out yet. And so the web is going to do that for them. It's going to be these web services 23 and me themselves. It's a monthly subscription model where as new findings are published you can go reinterpret your genome or like what you mentioned. And so I think there's a question about how accurate are they or do they oversimplify? That's the risk that I'm wondering about. I would be very afraid to trust the web for something that's fairly important. I called Mary Claire King. I was lucky because she knew all the variants in Brack What or those that myriad would let her know about. But I think we're going to have to have some experts that you just don't believe that this database is perfect. I mean, the decisions are too important. And in the sense of a second opinion, now I was lucky and knew that the person who probably knew Brack What and as well as anyone in the world and how you get this advice. But I do think there's going to eventually have to be human beings that you trust that they know all the polymorphisms and their doctors and they don't want to practice but they sort of specialize. And all the genes of your immune system or they really know about arthritis. You get help from them. So I think there's got to be sort of specialties of people that you can call just that it's on the web and who's put it there and how has the FDA certified it and that they have, I wouldn't, the data is so old that you wouldn't want to use it. So again, you know, the whole thing will favor people who are rich and can get good advice and with time it will percolate down. I don't see much way to change the situation. Can I ask if you see a difference between a physician that orders a test, returns it, doesn't know how to interpret it and hands it to the patient and the company that does it for profit and just returns it to the patient? I think if you're responsible, because if you give it to Eric, he can interpret it but most people won't know what it means. It's just too complicated. That's been my parents' experience in the diagnostic tests in this brain disorder. It was ordered, the genetic test came back, the physician said, I don't know how to interpret this and handed it to my father. Yeah, so I think, you know, with time there will be virtually whether you call it a medical specialty or something and a lot of people who don't like to deal with human beings, you know, are autistic people, they can be in charge of the significance of the data and they never have to talk to the poor person who's sick. You know, I mean, I'm really looking, this is the first time in human history when these informatics people who are on social have, we have a real need and they have jobs. If we open the data. What? Yeah, so you're saying this is a public works program? No, no, no, no, no, I think you gotta eventually, someone's gotta pay for someone to look into the genome. I asked George Church, I said, what does my genome mean? And he said, well, someone, you have to give me money. It costs money to examine someone's genome. And not in considerable sum. I mean, probably together your genome and I can easily see 10 or 20,000 dollars expected just to have someone look at it. And, you know, in a sense the cost will go up, we'll have to go up and down because there's gonna be so many more regions we can look because we have some experience that that's how amorphisms mean something. And we can have this all on an NIH web, but I think for something, you know, before you're scared shitless of learning something, you should get a second opinion. That's all I'm trying to say. What are your thoughts on that? Well, so in quote unquote preparation for this, I went on SNPEDA last night because all of my data are there. This was a website that was essentially started by two guys in their basement that links out to the literature, all of the GWAS and Genetic Association literature. And so I have, I don't know, nine or 10,000 annotated genotypes there. And it makes some subjective evaluation. These seem to be the most interesting SNPs and it's based on allele frequency and severity of condition, et cetera. And so I looked at the top of the list. I said, I wonder what my most interesting SNP is. And it says, you are male. Yeah. Which we now know is important after this morning. I thought they nailed that. And then it was followed by some other sort of phenotypically obvious, if not flattering things like seven X risk of male pattern baldness. And that sort of stuff. And so we can say that's frivolous and we don't need to know that and what's the point. But I guess I see that as sort of an educational tool that yes, I know I'm going bald. But here's an opportunity to maybe understand why and to look at any of these biochemical pathways that have been discussed so eloquently here today. And to just get an insight into perhaps at some superficial level, how this affects me. Good luck. Yeah. I've got time. Yeah, I sort of, I think I'm kind of a mischievous camp here on this one. Again, I mean, when I did the testing, it was really about my children and their children. So if there was something that I found, there was something that they could find that potentially could impact them or would impact them, is there something that could be done to prevent it or keep them from going down a slippery slope with things. So, but it's been interesting and it's been interesting to at least try to understand things and why they're happening to me and even just this is the one condition. But I think in listening to Dr. Watson, it becomes evident that there are much more critical issues that you could find that I think would be of concern. And I would be, it's sort of like my general practitioner just putting me on a treadmill with an EKG machine saying here, you have no heart disease. I don't fault the guy, but about the same token I probably could have found out years ago that maybe I could have done something to prevent it. So my other thing, if I could ask a question of, I want to ask Dr. Sherry and two things. One, you got the test for, you said for Christmas, Valentine's Day is Monday, what do you got in preparation for that? No, what was it, was it your parents that inspired this? I mean, did you want to learn more about what could cause this, you know, the brain issue and what was it that really, and what are you hoping to find mostly? So the brain issue's a hereditary generative condition and my father got tested for it last summer and that was, got me thinking about it, but there has been a 12 year enterprise NIH and the Genome Institute has led about finding these catalogs of variants that Eric mentioned this morning so nicely. And, you know, one of our tasks that NCB has been maintaining that catalog, trying to relate it to disease. And so, you know, I've worked it. I'm one of those bioinformaticists, the social types that sit in this computer room and try to put out accurate data. And I've always wondered personally, you know, what would it mean to me? You know, I don't have any, you know, personal knowledge of disorders that are coming up. There's not a lot of hereditary disease that I think I'm facing. So it wasn't that curiosity, it was more of how would I, one is, you know, I see all of these people that volunteer and put their genotypes into public scientific repositories. You know, and in working with that data, I should have that same level of commitment to the enterprise. And so it was a personal decision, I would put these data out, just because it's asking no more of anyone else than I would expect of myself. And the care I take in operating the database and making sure that, you know, all the consent is followed, you know, I want to understand that process from the participant side. And that's what I was saying. I've never been in a study, so this is a consumer driven approach to that. And I think, as Sharon is saying, there's gonna be more of that. People are very interested. The price was right, you know, at Christmas. And it wasn't like, you know, my big parents were particularly sick or anything. I was just like, you know, they have everything. But what's something you could give them would be knowledge of themselves. And in what we're finding is that it's starting a lot of conversations in our family about science, about, you know, how these studies are funded and what we're learning. And that's turned into discussion moments that I think are much broader than just the health question. It's about how public research really is relevant to American lives. And so I'm finding that as a hook. You know, they don't understand what I do. They haven't understood since graduate school. Now it's relevant. So I think that could be a broader opportunity for a lot of Americans. Great. How about from the audience, we wanna leave some time for you to ask questions. There's two microphones. Well, that was great. I was thinking of asking the panelists, except Dr. Watson, if they are interested in getting the sequence. So that will tell us about the technology that has been used in the past versus new versus the effect of aging. Do you like to get re-sequenced? So I'm probably, you know, 80% of people my age don't can't hear. So. I agree with you. So the question is. You like to get re-sequenced. No. I don't want you to know that. No, I mean, the only thing would be to sequence these Tom sequences and they, they next to Apple. And, you know, but I, no, I don't. I mean, they did a pretty good job. And so anything which, you know, it turned out to Cowden's thing. That was in Monroe. They said, we looked at your sequence, you're one base pair off from the bad one. So I never, you know, I was never at risk. And, but I try and not be a worrier. And so I try and avoid information which will worry me. So that's why, you know, whereas, and I wanted to make campuses, these cytochromes are really quite important in medical treatment. That's information which probably we should, and I can't say anyway, except small companies doing it. That the average, that'll reach the average person past enough. You know, but you should deal with cardiologists, you know, as a world, but, you know, who would pay for the information and so on. But in my case, it was important because beta blockers really do control. You know, partly they work for blood pressure. And, you know, as I learned, 80% of people above ADF really, blood pressure to the point where you have to control it. So, you know, yeah. A short question to Del Santron on clinical sequence participant. Did this genome gene that has been found for arterial calcification has got any similarity with the peripheral arterial calcification gene that has been decently sequenced by Dr. Gull and his group in the rare genetic disease? I think it was CD73, if I could recall. You had one question, do you? Yeah. Yeah. Go ahead Rick, you can. The answer is I just don't know. I apologize. I'm Bert Gold, I'm at National Cancer Institute. I must say, Dr. Watson, that I saw you the first time when I was seven years old and there's no question in my mind that if you want another career that you could always do stand-up comedy. You are absolutely as good as Jerry Seinfeld. Okay. My question is for Dr. Watson. I've had the great honor to look at his DNA in the region of the Duffy locus and so I'm aware that you are at least a Duffy heterozygote which would suggest that like the rest of us you have some origin from Africa but perhaps yours is a bit more recent than some of the rest of us. At some level yet I hear you kind of disavowing or not being certain of that or identifying with Scottish or Irish ancestry more. So I'm wondering what you think. Do you think it was a DNA mistake or what are your thoughts? Kerry Steffensen has a reason to dislike me. I have reasons to dislike him. I called him a leech once at a meeting. You know, he's- Affectionately. No. I like the locus. No, he's Icelandic about six foot age and height and he's Craig Venter-like. I mean, there's a strong personality and he's done, like Craig, he's done some good things. I'm not trying to say that he's not. But you don't publish in the New York Times without at least any reason why he thinks it did cause me to look at a few ancestors, but pictures, I mean, you know. So very good reasons for where you get- I know it's sort of irrelevant. I'm just, I'm telling jokes because I don't frankly give a damn. Next question. So I wonder if I could ask the panel for their thoughts on where they think this kind of data is gonna be stored going forward. Given the fact that there's probably gonna be multiple vendors, multiple companies, multiple technologies being able to sequence your DNA. You could have multiple copies of your own sequence. How are you gonna be able to keep track of this? Are you gonna be able to- Are consumers gonna handle it themselves? Are they gonna have to be some central repository that's trusted that can keep track of it for them? There's a lot of open issues there. I'm just curious what your comments are on that. I think they'll treat it like music downloads. I think it'll be personal libraries or there will be private companies that step into that market. I don't think it needs to be centralized for any reasons other than efficiency or convenience for individuals. I don't think it's appropriate in a government database because it's not research, it's not funded for that. I know that what I'm having done and what others have done are gonna be in company databases. They may get sold and then that goes to some new company and that's all in the informed consent. I plan on keeping a personal copy of it. I'll download it and consolidate it that way. Is that your experience? I think it'll, for most people, it'll probably live in the cloud and some people who are more worried about privacy will insist that it live on their nightstand or whatever and not in a public or remote location. I just thought Apple was building an app for that. I didn't. You can tell he's an entrepreneur. Yeah. Yeah. Hi there. I'm Layla, I'm a genetic counseling student here. And so I wanted to just point out, I guess, something that I think you all maybe have in common, which is that when you decided to do this, you had a lot of, you had relationships, first of all, with the people who were doing it to you for some, you know, to some extent and you had a lot of control over what you did and didn't see and who did it and sort of how the process unfolded. And I guess I wanted to know, whether you think that's an early adopter's prerogative or do you think everybody has the right to that? And if so, it's the latter. Like, how would you scale that up once this is more common? Sorry, very wordy, but. Rick, do you wanna try that one first? Well, yeah, I mean, for me it was sort of, I'll be honest, I didn't know what was going on. I mean, and so, you know, to look at the, and get access to the information, I'm just happy to share it with whomever. I would love to, you know, whenever I, I mean, I haven't actually seen any of the data, right? I just get the results. So I haven't actually looked at what it looks like yet. So I'm sure if I asked, I could. But for me it's just, I'm happy to share it. I'm happy it's out there. I personally didn't have to pay for it. It was paid for as part of the study. So I'm very fortunate in that, because my understanding is it's fairly expensive to do, you know, full sequencing. So I mean, I think that's the best answer I could give you. I think it's an excellent question. I think we are privileged as early adopters that we got a lot of hand-holding. And then of course, the more people do it, that becomes a difficult thing to scale. How do you provide flesh and blood genetic counseling for everyone? And so this, I think to some extent, gives rise to the 23 and me's of the world. And even the Personal Genome Project, there is a move away from sort of these intimate interactions with the neighborhood medical geneticist and more toward software, because I don't know how else you can scale up. Just add one point, because this is where I'm at in the process and trying to decide how open to make the results. And my parents are very concerned about ensuring that I can see their data, but right now it's just our immediate family. We want a clear way to share these with our extended families, other people get tested. And then once you've seen the results, open it to the world. I don't think I'm ready to, you know, having no idea what's coming to say it's out there, like personal genomes. I believe you make the commitment upfront, right? It's a part of the consent. So I think that on the consumer model, it'll be more incremental. And to have that clearly provided and architected, I think it's essential for the ethics of this as it reaches the later doctors. So as you just mentioned, you'd be open to the possibility of sharing these data with the world. Would you share your genetic information with insurance companies? This may be a little bit early on in the process to ask this, but as somebody who's gone through this, you know, would you want your insurance companies to know about this? If not, where do they stand in this? I think, you know, if I were, you know, running one of these big projects, I would, you know, sequence only people who are about 70 years old. No, the reason is that you have their entire past medical history, rather than going, you know, the other way. And on the whole, people are retired, you know, they're not worried about necessarily putting the information publicly. I think unless we have some phenotypes correlated with genotypes, it's going to be hard to interpret it. So if we emphasize too much secrecy, so I'm trying to get it, I didn't worry in part because of my age, you know. The world couldn't do, you know, I wasn't gonna, they weren't gonna find I had a gene for Huntington's disease. You know, I don't know if I had it. So, I think it's important that a lot of people realize that they're more likely to benefit, like I benefited by looking on the side of Chrome, so I could help my son. And that, you know, you could discover your carrier for cystic fibrosis, and therefore your children should look at it. So, I think we could, I wouldn't worry about secrecy, you know, for the most part. I think it's overblown. Other thoughts on the insurance issue? Well, I mean, with the exception of Jim's APOE locus, our genomes are both public, so insurance companies don't have to ask us. Yeah, but they don't have the Tom T. They really don't have the data they need to interpret. You have to really go back and now look at it, and then you can make really pretty scary predictions. Instead of, you know, you have to three it's 50%, now if it's three long, 80%. So, you know, so I think it's one that you really have to, I would advise people not to learn it, or you know, not to have it released, because, you know. So there's no benefit. Do you think that the insurance companies would do anything with the information if they had it? Well, right now they're prohibited by law of using it. I think this wonderful law that Francis got through, I think you can't be discriminated against. In health insurance and employment. Right? Yeah, I think that's the least of our worries, frankly. No. I would just add that I think there's a difference between sharing my genetic information and the phenotypic information, and that was my mom's one concern on some of the 23andMe surveys what they collect phenotypically, and I'll just say, it's actually really objected to bra size being asked. I think the other point to make is that this can cut both ways. So if I know that I'm homozygous for ApoE4, and I have not shared that information with anyone, there's nothing to stop me from loading up on long-term care insurance. So. Right. So we're gonna take the last two questions, and we're gonna ask the panel to be very brief so that we can get back on time, and I think we're over here. Ahmet Kaplan in IDDK. Do you think sequencing the genome for everyone is something, is the right decision to do and telling them what they might have in terms of SNPs or possible genetic disease development? Because for example, telling them that you have this disease, once they have this disease, is different from telling them you might be developing Alzheimer or dementia in 20 years from now, knowing that it is only a prediction, not a certainty, because again, it's other factors besides genetics, fact, environmental factor, and others, and maybe some people, they will not be able to take the news well and they might lose it. Like, if I knew I'm going to lose my hair, I might take a million picture before I lost it. So do you think that's a suitable thing to do for everyone, even if it came at a reasonable price, that everyone can do the genetic sequencing? Rick, you look like you. Yeah, that's a great question. The answer that I'd come down on is no, it's not. It's not for everyone, and I think that there needs to be some filtering. I think Dr. Watson said it earlier of exactly what you do tell people, right? Because I think that could be, look, there are people that are worriers. Dr. Watson is not one. He avoids the worry. That's good. That's why he's, what are you, 73 now? But my, but I guess that's the point. I think that would deal okay with the information, and there are people that would not deal well with it, and certainly from the standpoint of if it was something really catastrophic, would you want to know that, I mean, that changes the way that I think you look and react to life every day, and that probably wouldn't be healthy, but if there was something that you could control, right, that you knew that would be important to you, those things are the kind of things that I'd like to know about it. Like you said, if I was going to have a Huntington's disease, I don't know that I'd want to know that necessarily. No, I sued the doctor who would tell me that. Yeah. For, you know, unnecessarily messing up my future life. Yeah, because there's no guarantee you'll get it. I mean, I think you've got to have some common sense. What if someone wants to know? Well, if they want to know, sure, you know. Yeah, yeah. Sort of a legal question. They do it, but I mean, they take a big risk. But, you know, finally, you're saying that you can tell me if I'm going to get Huntington's disease. The chance that you're getting it is so low that it's not, but the Alzheimer's disease is more real. Sort of a legal question. There's considerable discussion in the academic and regular press about patenting of various sequences in the genome. If we knew Dr. Watson's specific genome that gave him the humor capability, could, what do you feel about being able to patent that and reserve it for just me? Or I'll sell it. I'd be rich. No, I got fired from being here for opposing patenting. So, I mean, I've had a long view of this thing that they're just, they setback genetic. That's all I'm trying to say. All right, well, Misha, did you have a last word on that? Well, as probably most in this audience know, Judge Sweet in New York last year ruled against myriad genetics, some of their patents on the BRCA genes and that decision's now being appealed. I think most of these patents are set to expire this decade anyway. I expect gene patenting for monogenic diseases will probably die of natural causes. Maybe that's wishful thinking. Great. Well, we've heard from a variety of individuals who have learned about their sequence in a variety of ways, from a variety of different processes. I think 10 years ago, we wouldn't have been able to have this panel. So, in a sense, we've come a very far way. And this morning when I listened to Eric, give us a charge for a million genomes or give it to other Eric. I think we have not yet begun to explore what it means to do that in a social context. If we had said 10 years ago, would we be able to sell books in every attic and basement across the world to each other? We would have said that's crazy. And we do it today quite easily. So I think we're gonna also find that as these needs arise and as individuals themselves step forward to be partners with NIH, with Wellcome Trust, with other entities around the world, that we are gonna be able to solve these problems together. And we're really going to be able to build hope and not hype. So I wanna ask you to all join me in thanking the panel.