 Our next speaker, sorry, our next speaker is Amy Harmon from the New York Times and she will be talking about the public place in personal genomics. Thank you for the introduction and thank you all for being here for this historic event which is also known as my first PowerPoint presentation. I'm a writer. I don't do PowerPoint. So we'll see how it goes. Please be patient. It's an experiment. You guys are used to those, right? Experiments. Talking to scientists. So, okay. I'm going to talk about the public place in personal genomics. So naturally my first slide is of two women in a nail salon getting a pedicure. So if you're wondering why, this is a picture of, oh I know, I have to do, this is also my first use of one of these things. This is a picture of Deb Lindner on the right and her mother Joan and they are getting a pedicure because Deb has inherited Joan's BRCA1 mutation and this is how she wanted to spend the afternoon the day before she went to get prophylaxis mastectomy. I'm going to come back to Deb in her story which I think illuminates both the virtues of the work you do and some of the challenges we all have going forward. But first I want to back up for a minute and address a question that may be in some of your minds since it definitely was in mine as I was preparing for this talk and that is why am I here? Okay. Let's see. This is my first. What do I do? Oh, do I have the wrong one? Okay. The PC one, not the Mac one. See, I'm learning. Okay. So this is a list of some of the speakers at this event, many of whom you've already heard from. I took this from an email that Eric sent around as he was organizing it a few months ago. So you can see if you read down the list that one of these things is not like the other as they say on Sesame Street. So here we have like, you know, the MD, PhD, MD, PhD, MD, PhD, JD. So Eric referred to them this morning as some of the great minds and genomics. And here I am, a lowly newspaper reporter. And not even a real science reporter. I have a BA in American culture. I work for the national staff of the New York Times, not the Science Times, although I am an avid reader of the Science Times. When I write about the social impact of science, which I like to do, I really rely on people like you to explain the science part. I thought of a couple of reasons why I might have been invited. One reason I thought was maybe I was invited because other reporters, like my colleague Nicholas Wade, have written somewhat critically about the genome's anniversary. A decade later, genetic map used few new cures he wrote, and that was one of two parts. And so maybe, NHGRI was looking for a journalist who seemed like she might be a bit more sympathetic to its cause. I didn't actually ask Eric that, but it crossed my mind. I thought that maybe there was a sense of obligation to give a nod to the ethical and social and legal issues on the program, although in my somewhat limited experience at scientific conferences, the LC session often seems like the cue to head to the bar. So, you know, no, I mean, not that it should be. And with all due respect to Amy, this presentation was great, and we should all, and I'm gratified to see you all here, but I just thought maybe that was something they needed to do by inviting me. Also, I thought maybe they just wanted me to write something about this 50-new strategic plan, so maybe some good press could help them. But then I thought, then I thought, don't be such a cynical reporter. I thought, okay, I'll take Eric at his word. Maybe they really want what he called in his email a community perspective. That was what I was asked to provide. Maybe they want to see what an average reporter like me has learned about the impact of their work on average Americans, because these scientists are often their labs working really hard, and they just don't get to see that for themselves very much. So I thought, all right, maybe, maybe I could make a genuine contribution here. Okay, geneticists. Okay, PhDs and MDs and MD-PhDs. I don't have any fancy microarray slides or sequence strings or molecular pathway charts to show you, but I am going to show you some pictures of the people whose lives your work has touched, because I have been privileged to spend time with some of them, and you really have had a profound personal impact that deserves to be recognized on this anniversary. I'm going to show you some of these pictures, like this one of Samantha Napier and Tegan Lane, who are not related but share a deletion on the short arm of their 16th chromosome that was only deciphered a few years ago with technology that grew out of the Human Genome Project. I'm going to show you these pictures, and then I am going to respectfully suggest that you need to get out of your labs and talk to people more yourself. Not just the people who you've directly impacted, but those who you might impact, pretty much means all of us, I think. Because I have to tell you that there was another question in my mind as I was pondering the invitation to come here today, and that is, why bother? As much as I was personally honored to be asked, this is not my job. The New York Times does not pay me to learn PowerPoint so I can try to communicate with scientists. They pay me to write stories, and they are calling me during the breaks and asking, what have I done for them lately? But there was sort of a selfish, pragmatic reason for me to do this because the kind of stories I like to write depend on a public that is not totally alienated from science and scientists. And I really worry that if this decade does not bring more meaningful and compelling communications between you and the public, that you jeopardize the future of this important work and also the future source of my favorite kind of stories. So I'm here. I'm here both to tell you about some of the personal genomics that I've come across, the personal genomic stories that I've come across, and to try to coax you to tell your own to a broader audience. Many of the speakers here today have outlined a huge amount of scientific work that needs to be done, but I would argue that communicating about this work to your friends and neighbors and local high school students and local journalists should be an equal priority. And maybe, maybe that is why I really was invited, because you knew I'd have something to say along these lines, in which case I'm happy to oblige. So let me go back a minute to these girls, Tagan and Samantha. They live on the opposite ends of Kentucky. A genetic counselor who saw both of them put their parents in touch, and this picture was taken when the two families met at an amusement park in the middle of the state, because even though there is no treatment for Samantha and Tagan's disorder, which includes digestive problems, learning difficulties, head-banging behavior, their parents felt they shared something important. It's like meeting family, Samantha's older sister said on this day, three years ago last summer. The mothers are still in touch and email frequently. What is so striking to me, what draws me to write about this stuff again and again, is how intimately genomics research affects individuals and families. Deb Lindner and her mother, from the pedicure slide, not from this slide, I should really have note to self for future PowerPoint presentations, the slides in a better order, Deb Lindner and her mother really argued over whether she should get that mastectomy. Deb was 33, she had a boyfriend, but she was not married, and her mother felt it was too drastic a measure to take at that time. And Deb told her mother, her mother who was a breast cancer survivor who Deb had watched go through brutal chemotherapy when Deb was a teenager, she said, I have this amazing gift of knowing my risk. You don't know what you would have done if you had the same gift as me. It's intense stuff. Deb refers to having a BRCA1 mutation as a great sorter of men. She had a boyfriend when she got her surgery, but they broke up soon after. He ended up telling her he couldn't deal with it. Now she has a husband who told her after she gave him a certain New York Times article to read after their second date that he thought she was the coolest person he had ever met because of what she had done. So this is Katie Moser, who I met shortly after she tested positive for the mutation that causes Huntington's disease at age 24. Now historically most people at risk of Huntington's have chosen not to get tested because if you're positive you're facing a really, really terrible fate. And for anyone who doesn't know, Huntington's symptoms typically start at middle age and you gradually lose your ability to walk, talk, move, eat, think. Katie is one of a growing number of young people at risk of Huntington's who are deciding to get tested. In large part I think because of the beginning of a more enlightened view of genetics in our society. We now have a law that prohibits discrimination based on genetic information. There is a lessening of stigma. And Katie went through a very tough time for a while after testing positive and I was with her during that time, but she said she never regretted it. She wanted to know and now she's working tirelessly to raise money for research for a cure before she gets sick. And she's also right now in the middle of doing pre-implantation genetic diagnosis so that she can have a child who will not be at risk of Huntington's. So people take genomics personally. Sometimes for very good reasons as we've talked about. Sometimes I think also for sort of irrational reasons. I think it's hard for some people to distinguish between the more innocuous things you can learn from your genetics and the more profound ones. But for whatever reason, our DNA is bound up in our identity. People tend to regard it as the very essence of who they are. And this slide is just a slide that shows, there's one recent study that says Americans are concerned about the privacy of their genetic information. It's nothing new. Kathy Hudson of the NIH has been measuring this and talking about this for years. But I really think that it is in this personal nature of DNA that your challenge lies because the stakes of not communicating the significance of your work are getting higher. This is Carletta Tlusi. She is a council member of the Havasupae Indian tribe. She lived at the bottom of the Grand Canyon, which I got to visit with a helicopter when they were in the middle sort of on the cusp of a settlement that they received from Arizona State University of several hundred thousand dollars last year. It was a long drawn out story, but a genetics researcher at ASU in the early 90s took blood samples for what the tribe understood to be diabetes research and later found out that she had branched into research on their geographic origins and other diseases that they said that they would never have agreed to had they been asked. Havasupae and many other Native American tribes have refused to participate in genetics research for many years. Now, some scientists I've talked to here that have a Havasupae story and they kind of dismiss it as a unique case. They say, well, that was a long time ago. It was a single researcher dealing with an uneducated population at the bottom of the Grand Canyon and also the whole concept of informed consent was sort of in its genesis, informed consent for genetic research hasn't been sort of fully formed yet. But here is a picture of a mother in Texas and this was just last year and she found out that the standard heel prick of blood taken from her newborn that she was told was taken just to make sure that her daughter was healthy was stored in the state database and was being used for different kinds of disease research. And this is what she said when I interviewed her last year. Her name is Andrea Bellino. She's a legal aid lawyer. She said, the irony is if you had asked me I probably would have consented. I would love for there to be a cure for breast cancer which runs in my family. I would love for there to be a cure for diabetes. The way they went about it just made me distrustful. And so she was instrumental in this lawsuit against the state health agency and all of these blood spots that were being used were in the state of AIDS for its millions of them were just destroyed. So, you know, you guys want a one million genomes project. One million genomes. That is huge, right? And you want a budget to support it. And I was glad to see a line in the new strategic plan being introduced today that notes the importance of public education in this massive effort. I cut and pasted it here. Not having the PowerPoint skills to actually take the PDF file and put it in the slide. But I have to say that my editor would not approve of this use of passive tense. Education programs are needed. This is from the nature. So it's spelled in this like English way because it's from the nature article. But education programs are needed to promote lifelong public understanding and awareness of the role of genomics and human health in other areas. Okay, that sounds good. That sounds good. But I have to tell you, in case you haven't noticed, you guys are busy. It is hard to get you on the phone. Your funding depends on publishing papers and not on talking to people like me or on educating friends and neighbors and high school students about personal genomics. So I just want to take this opportunity to really pose the question, how will that public education happen? Who will do it? Is it possible that the NHGRI could require it as part of its grants to investigators? It's just a question, but there's no incentive for you. It's just frustrating to me because every time I talk to a scientist, I am aware that I'm taking his or her a very valuable time. And it just seems like if you really believe in it, they should be paid to do it somehow. You should have to do it. So anyway, since so much of your energy does go into publishing papers and so much of your career depends on it, I wonder also if you might do more in this decade to publish those papers in journals where average citizens could actually read them without paying $15, $30, sometimes $50 for each one. Now, I don't know if anyone in this room has ever run into a screen like this because you all have institutional subscriptions to all of these major journals and you probably just, you can sort of surf them like I surf the web, but I, the Times has fallen on some hard times of late and I don't have a subscription to all of these journals. Maybe Nicholas Wade does. So I run into this all the time. How do I get access? Well, I have to pay. This article, I don't know if you can see, it's called Making Data Maximally Available. So, and this is what happens to my readers, right? So I try to be conscientious and I put links to your papers in my stories. My stories, as I said, I'm not really a science writer. I try to write these human stories, but I want people to be able to get more information about the science. So I put in the links and we're also, you know, there's a big push to do that at the Times. We want people to, you know, we want to be as open as possible. We want people to be linked to other information, but that's what they get. That's what they get. Now, I understand that these science and nature and self traditionally be considered the prestigious places to publish and your jobs and your tenure and your grants depend on publishing in the most prestigious places. I get it. But if you care about communicating your results to the public, as well as to each other, I don't really see how you can justify it. And I think that Harold Varmus, who I was here today, he may not be here now, former NIH director, now NCI director, had that in mind when he co-founded the Open Access Journal, Public Library of Science. And there are other journals, too, that allow taxpayers to read about the results of the research that they are paying for without paying again. So, you know, again, you invited me, so I think I'm allowed to make these suggestions. But I just think it would be nice if scientists would take advantage of these Open Access Journals and it would be nice NIH leaders who control their funding if you would give them an incentive to do that. Okay, I just want to reiterate the title of this paper, Making Data Maximally Available. Okay, so switching gears slightly here. One of the most riveting personal impacts of genomics research that I have had the privilege of reporting on over the last couple of years is the testing of a molecularly targeted drug for melanoma, which you heard a little bit about from Linda Chin already. The drug still doesn't have a name. It was developed by a small biotech company called Plexicon and acquired by Roche, a pharmaceutical company. It grew out of the discovery that the BRAF gene is mutated in half of melanoma tumors, which in turn grew directly out of the Human Genome Project. And this drug Phase 3 randomized trial was just stopped a few weeks ago because the drug had proven to extend lives beyond the standard chemotherapy, which honestly wasn't that hard since the standard chemotherapy doesn't do anything. So this is Kerry Adams, a young woman in Oklahoma City who was diagnosed with metastatic melanoma, which is typically fatal within nine months. When her tumor tested positive for the BRAF mutation, she joined a clinical trial for the Plexicon drug, and I'm just going to try to do this, which is another PowerPoint thing that I've sort of... Oops, that I may have failed that, but how do I get... How do I... I'm going to try to play a one-minute video for you. Yes. Thank you. Okay. Take the other mouse. Go to the bottom of the screen. Oh, it's not really... It's being weird. Okay. Okay. We'll see if I can play you this video. Maybe make it bigger. Oh, no, play. Oh, there's no sound. The first few times this just took me, you know, 30 minutes to take them all. By the time she began taking the drug a year later, Roche had reworked the formula. She was given a more potent dose. And for two months, Ms. Adams took 28 pills daily. Then she went to her doctor for the first CAT scan results. And he comes in and he says, okay, I think I've got some really good news for you. And I was like, okay, what is it? You know, like, just so excited. You know, he said that the scans showed a significant shrinkage in the size of all of the lesions. You know, he said, I think we found the right drug for you. I think, you know, that we can look at this long term. She was not alone. Across the country, the Phase 1 PLX 4032 patients were responding. Would the responder shared in common with the... You can watch that video on the time to site. I just wanted to give you a little quick flavor. We made this, it ran in conjunction with some of the stories that I wrote on this clinical trial. And now I have to do this. Ideally I would integrate the video into the PowerPoint. I realize that. So I'm learning. Next time. Oh no, now we're at the beginning. Okay, we're going to go through these slides. So these are just a couple more people, pictures of people. Because I'm trying to show you pictures of people on the trial. So that's Kerry. That's Randy Williams. He is a construction worker in Arkansas. This is Mark Bunting, an airline pilot in near Salt Lake City and his family. So this BRAF story doesn't have a really happy ending, at least not yet. It's after an average about seven months patients relapse. But the hope is that that is a model that people responded and that the right people responded to the right drug and that it's rational and that this model can be replicated. And researchers are using the tumor samples of several, including Mark, several samples from patients who have relapsed to try to look at them and understand what's the new driver. And if they can figure that out, then maybe they can find a similar drug that can hopefully block it in a similar way. And the first two papers were actually already, I mean, talking about Linda mentioned, you know, how quickly this is happening compared to how it happened in the past. But so the papers on the resistance mechanism, or potential resistance mechanism were published in nature in December. So that work is moving along. Of course, since they were published in nature, the patients themselves, if they are alive and their families can't actually read the papers without registering and paying for them. So I can't help pointing that out. But I am these stories. I wrote a series of five stories on this clinical trial over the course of a year. And I really, I must just, you guys all do acknowledgment screens, so I just want to say that I am grateful to many of the MDs, PhDs and MD-PhDs who spent a lot of time with me explaining the finer points of cancer genetics and making it possible for me to try to convey the impact of this bit of genomics research to the readers of the times. Okay. Now, we're back to this. And I just, I wanted to just point out that I'm actually here on this slide. You can't really, you see my elbow? So I was forced to get a pedicure too that day in order to really do my job as a reporter. And I was with Deb the day before her. And that stuck to me in the day of it. And now Deb and I do panels together. Sometimes we speak on this issue. And she often reminds me that only 30,000 of an estimated 250,000 women who carry the BRCA1 and 2 mutations have actually been tested for them. Many don't know they're at risk. And I just, if that's the case for this sort of extraordinarily well-known risk genes, risk genes, it seems like there's clearly a long way to go to educate the public about personal genomics. And just as a final note, I sometimes hear that scientists think that they can't talk to the public because they don't know how. But you all have stories. I've heard some great ones today. I think you underestimate yourselves on that front. You're passionate and excited about what you're doing and only you can inspire that passion in the public. And if I could learn to make a PowerPoint presentation to talk to you elite scientists, I am quite sure that you can learn to talk to regular people. I'll do better next time, and maybe you will too.