Feds meet in DC about new genetic testing sites

Last week in a packed hearing room in Washington, DC, critics and supporters of direct-to-consumer testing debated and discussed the science and the business of genetic testing for consumers — and whether the feds should regulate, or not, the likes of 23andme, deCodeme, and Navigenics.

The committee invited me to speak as someone who has been tested on many of the genetic testing sites they are investigating. The committee had lots of questions — I’ve inserted the rough transcript below (warning: it’s long). 

 

Some observations at the meeting: there were clearly naysayers and supporters of direct-to-consumer genetic websites among the committee members, though this being Washington, my sense is that there was a leaning towards the nays who may want to regulate this fledgling industry. Everyone was polite and there was an effort by all to support the general concept of free enterprise and freedom of access for an individual to their genetic information. But the undercurrent was one of skepticism about the accuracy of the tests and the public’s ability to understand them.

I sensed as a former Washington reporter that there are issues of turf being sorted out as some geneticists and others in government and academia try to cope with “outsiders” taking the initiative in a space that has been exclusively theirs. In part this is a cultural shock that we’ve seen before for those unused to the wild and wooly ways of Silicon Valley.

Out here in Northern California, techies and denizens of Web 2.0 will jump into any new technology they think can be scaled, and can provide even a wee bit of information or service to a few dozen “early adopters”. Profits are usually secondary — at first — though the preferred mode of trying a new technology out here is through commerce: you round up investors, set up a company, create a product, get office space somewhere within the aural boundaries of Google, Oracle, or Apple, and hope that people will log on and take a look. Somewhere along the line, you also hope they will buy the product.

This ethos created the internet and much of modern computing technology, but it’s still an open question as to whether or not it can be applied to information about a person’s risk for disease, illness and death. I’m guessing that eventually most medical information for most people will be handled on the web using accepted guidelines and rules, and people will have a choice of getting the information directly, or through a genetic counselor, or a physician. The question is, how do we get the point where people are comfortable and reasonably educated, and where an acceptable infrastructure for guidelines and rules is in place? 

We’ll see what this committee in Washington has to say when they complete their report. I’m guessing they will lean towards government involvement, though possibly the most interesting outcome of the meeting last week was that the major genetic testing companies met with the Personalized Medicine Coalition – a nonprofit, independent think talk — to begin talks that might lead to voluntary guidelines and self-regulation. I think this is a smart move that might head off federal rules, and might help mitigate actions by California and New York and possibly other states to overly reign in or restrict the development of this new technology. 

Bottom line: information about genetic risk factors is very, very new in most cases and not really ready to be useful to most people, who have little or no understanding of the information, genetics, and risk factors. But these issues will be resolved. In the meantime, consumers do need to be warned and protected, but it would be best if this is done by enlightened companies overseen by government rather than by government alone, though someone will have to do it. 

With the Bush Administration a lame duck, the action over the next few months will be in states such as California and with the companies. Let’s hope they handle this delicate balance wisely between the need for consumer guidelines and in some cases protection and the need to allow innovation.

Below is the rough transcript of my remarks and the committees question (I warned you! This is really long, the questions and answers are at the end — also, this is a rough and not entirely accurate transcript. For instance, they keep calling me “Dr.”, which is not what I was actually called, and is not true). For more information on the committee and it’s members and other’s remarks at this meeting, so the SACGHS website:

Transcript:

Our next speaker is David Ewing Duncan. He’s the director of an award winning, best selling author. Dr. Duncan is also the founder of the bioagenda institute. It discusses and analyzes critical issues in life sciences. Dr. Duncan will presenting for about 20 minutes. Then the committee will have about ten minutes for questions and answers again. Thank you, Dr. Duncan. 


I want to thank you the committee for inviting me. I wanted to say briefly, add to the parade here thanking Francis. Francis is always accessible and clear in explaining things. We deeply appreciate that. Thank you for that. I have a lot to cover here in 20 minutes. I am here in morning as one consumer, a party of one, a subset of one, who is tested by all of the testing services talked about in these meetings. Not your average consumer. I am a journalist. And an author that is writing a book.For the book I’m having not only my genes tested, but also environmental impacts on the body. I will adhere that this is all noninvasive. I am also the director of a new program called the sfert for life science policy. We’re launching this fall, there’s a lot nor information about this coming out about this. In conjunction with my book the center is developing the experimental man project. It includes a website, and other activities. And the experiment is for one man to take a wide array of tests. It’s a radical concept. I started this project with a visit to my physician. Who declared me to be a healthy why male, 50 years old. I also come from a mostly healthy family that lives a long time, some of us over 90, a couple over 100. We don’t have a lot of heritable diseases. As we enter this brave new world I want to emphasize what we’re talking about. In the past we’ve focused on the ill and the unhealthy. We face a future here that is a focus on the healthy individual, which is exciting. And we’re trying to predict the future in a way that has not been done before. The committee asked me several questions. I will summarize them in groups. The first being being expectations. 

 

 


I mentioned my primary purpose was as a communicator and as a journalist. I have have curiosity.Also a future insight to my future health. Coming from a healthy family. What sort of information did you anticipate receiving? I had fairly low expectations of getting extremely useful information. And the normal consumer I’m not sure would have the access to the information that I have. I knew going into this this is an early phase of the science. Also deep down I wanted confirmation that I’m as well as I think I am. Yesterday we had a presentation about different categories of patients. I’m probably the one that likes to keep myself healthy. Also, I went into this with some expectations about what my family results might be. That was a different set of expectations. I was asking others in my family, who were also tested by the way. It did my pause a minute bringing my family into my experiment. They very hartly agreed to go along with this. The next set of questions are tests and relates. 

 

 


This is the bulk of the talk. What tests? The results. The differences. Overlapping results. A baseline of the tests that I have taken — I have tested on most of the major snip array, some copy variance, I have been tested for several dozen individual genes. Coming in the next few months I’m hoping to get my full genome sequenced. By the way, that’s plenty of information even without the full genome. I have been tested by many companies and academic labs, nonprofits. I was one of the few people around 2001, which is the Jurassic age for gene Mick testing. Very early on getting some results. I do want to emphasize some of these results and this information has been around for a while. We’ve been having this flurry of association studies coming out, this information and its attempted information has been around for a while. 

 

 


The costs of my tests, if you add it up, for me it was around $16,000. If you add my family in it’s about $20,000. I am gratified that many of the companies did this pro bono or they were covered by publications. If I get my full genome it will be perhaps $100,000. 

 

 


My mother and father and brother and my daughter have been tested. I was a little reluctant to bring my daughter into this. She insisted, there we have. I will focus on three companies, what they call the big three. Navigenics, you will hear details of these companies. From a consumer point of view there’s two or three differences in each of the companies. Navigenicss focuses on diseases. They do not do ancestorry. They do offer counseling. They’re more expensive than the other sites. These images are my results. You will get to see them in a minute. 

 

 


DeCodeMe has a few more diseases. They have incestry. DeCodeMe is also a company, it’s a publicly traded company. They do drug discovery, their scientists have come up with some of the major studies that others use. They have scientists working in their back shop. At the moment they offer no counseling. 

 

 


23andme hits the jackpot for the larger number of traits they feature. It is interesting they have a rating system they put into their large number of traits. They rate things, rate these traits whether they are preliminary or established. There’s some criticism of that. But I think it’s heading in the right direction for consumers to try to understand which of these traits has the best science. 

 

 


Two others DNA Direct which is one of the older online companies. They offer only individual tests. I’ve had one test ordered from DNA Direct. It was a different experience than the others. They have a heavy counseling area to this. I talked to the counselor two or three times. Also, they have a rich site. 

 

 


The [ Indiscernible ] institute, which is not represented here. I would recommend that the committee look into what they’re doing. They’re genome testing site will be up in the next few months. This is a nonprofit. I’m sure you all know of them for producing tissues and storing cell lines. They’re testing for free 16, 17 diseases about a hundred thousand people over the next several years. They have NIH grant money. They’re doing something interesting for those that consider doctors to be less educated in genetics, they’re starting out by testing doctors in the Philadelphia area. 

 

 


Now to the results. I will give you results for three diseases, for the three sites that the mentioned. The first two were randomly chosen. Macular degeneration, it’s an A. And B, I if you look over to the right-hand side columns, if you have a behind you can study this chart more, the critical numbers and items for consumer would be the ones in color there. This is a threat level color code, which I have added here. You can see I have threat level colors that range from green which is low risk to risk which is high risk. The second to last column tells you which company. There’s a number of different snips here for the same disease. On the far right are my lifetime, or overall risk factors that the site give. The far right is the average risk. This is interesting for a consumer. A bit head scratching. The average risk for the different sites are different. My risk factors are also a bit different. In this case it’s not a huge factor. I am low on all of them. Which is really all that I want to know. It’s worth noting there’s a bit of difference there. Another way to present the data here for diabetes type 2. 

 

 


19 different snips among the three sites for 15 different genes. My range were from yellow to red. My lifetime risks were within shouting distance of each other, about 4% apart. The average on all of the sites is around 25% for type 2. I’m below that, which is also really all I want to know. 

 

 


It’s worth noting there were four snips that overlapped. Out of them, two of them had different enough results they raised an eyebrow for me. Meaning the same snips had different risk factors associated with them on two of the sites. There were four additional snips on two out of the three sites, there were overlaps of the additional four. And 11 [ Indiscernible ] that were on one site only. 

 

 


Is the data consistent? Basically to summarize this slide I would say within acceptable parameter. Most of it was fairly consistent. The one area that was strange was to have this variance within a disease from green to red. In talking to the companies they all correlate those and use them as modifiers. That is a little confusing to present such widely ranging results. There was one exception, that is my heart attack gene markers. I don’t have heart disease in the family. I did get what I considered somewhat confusing results. 

 

 


On one side I have low risk, one high and one in the middle. For something like heart attack this is probably not the most comforting results. Or for someone like me that wants to confirm I’m healthy it’s not useful information to have. Again, you can see my color coding there. The range from yellow to orange to red. On the far right are these overall risks. And for DeCodeMe and Navigenics you have a 42% to 62%. The average is 49% according to the sites. It’s worth noting my risk factors is almost twice the average on the 23andme site. I think I noticed last night that risk factor had slightly changed. 

 

 


Why the different results? I do encourage you could talk to the companies about this. Some of the information that I gleaned as a reporter is that — and can see it as a consumer. There’s different snips used in studies. The different methods for determining risks for the different sites. You also have different methods for determining combined snips. There’s also a reliance or [ Indiscernible ] snips. That has to do with linkage disequalibrium. Not everyone in a population shares these snips. Again, I’m not a scientist. These reflections are through a person who is trying to comprehend and understand this. I hope I get it right. This is how it’s explained to me. In the end this heart attack result did leave me scratching my head. 

 

 


I did with later tests find out that I did hit the mother load of a lot of high risk hoe mow zygote snips that indicate that I have a higher risk for heart disease. 

 

 


The three generation study with my family I will go over one result, which is a bit surprising. My father and brother are hetero zygote for Alzheimer’s. I was sitting in San Francisco one morning and turned on my computer and got these results back. To see anything to do with Alzheimer social security a Alzheimer’s is a bit scary. I called my father who is 76, about to turn 77. He sort of shrugged and said I made it this far, I’m probably already. My brother equally shrugged. He seemed to be unconcerned. Hopefully that will continue. 

 

 


I want to mention the difference between a rare and a common disease for a consumer for a patient. My brother does have a rare genetic it disorder. It would have been fantastic to have a test to know this early in his life. I’m not sure, however, I discussed this with my family, if we would want to find this out in a direct to consumer sort of process. In the future maybe one will not think of that. My brother would prefer to get this through a medical professional. The sites that we’re talking about don’t offer rare diseases. 

 

 


Ancestry is fun. I encourage it for everybody. I don’t have a bitter taste. I seem to have a lower IQ. I’m at a higher risk for heroin addition. I will live to be over 100 despite my risk for heroin addiction. 

 

 


The crush of data is something also to think about here. We’re talking about a very small number. It seems like a large number. From my project we’re up in the upper hundreds now of markers. Many of these are for rare diseases and things I would have no business looking into normally. I’m trying to do everything for the project. If I printed out my chart right now it would be about 24 feet. 

 

 


The final step here, the final list of questions are reactions and thoughts. Did you alter your behavior? I’m atypical here. As a journalist and having a much deeper knowledge of the topic. I did not really alter my behavior. I did have some tests which are not yet ready. Companies that do human modeling. I did find out I have a higher risk for heart attack. I did alter my diet. There was some talk of statins. WeThe pluses, one gets a great insight into personal and societal health. You get a personal empowerment. I believe that the appearance of these companies and websites is pushing along this process much faster than it was going. It’s pushing the health industry to think more about applying this great research. Towards individuals and establishing guidelines and ethics, education and funding. Inwe need more of this. This is a fabulous discussion to be having here. Opening up new avenues for research and medical and drug development. 

 

 


A few minuses at the moment. Some of these are temporary. This is early days. Association studies are not always applicable to individuals. Disease and nondisease results are sometimes mixed on these sites. At first it’s jarring. You get used to it after a while. No standards that I can tell as a consumer that reassured me of the validity. The number at the end of the day is your risk factor. I think consumers are a bit smarter than is sometimes given credit for. If you explain to them even the fact that these risk factors may change over time people will begin to understand that and pick it up. There needs to be an educational process. Physicians really had no idea would to do with the division. There’s a potential to frighten certain people. And high costs and who will pay. 

 

 


A few thoughts and suggestions. Consumers should be free to access their information. And they will. Any attempt to harness in information or keep it away from consumers, especially with the web the way it is people who want this information will be able to get it. I love the discussion that is going on here. And would encourage that to help me and others to understand. I suggest looking into the core Ella approach. Especially the fact that they have doctors first. They’re testing doctors first. We need to establish guidelines and standards for the tests and the information. 

 

 


Kind of a good housekeeping seal of approval. I think most would like some assurance that this information is accurate. A few others here, I think it would be helpful to come up with standards. Disease markers are more important and should be handled differently than ancestry. There’s a way, I believe physicians should be involved with some of the decisions in the companies, in assessing people’s results. And also 23andme did start offering counselors, a locating system online for finding someone in your area. To conclusion, I want to go back to the beginning. Genetics is just the beginning of this process. In my book and in the project we’re also doing environment, brain and body. I have a feeling that a committee like this will be in session for many years discussing each of these developments. There’s a lot of interesting research with using brain waves as biomarkers. They will begin to play a role in preventing medicine. 

 

 


I would love to have you check our our new experimental man website. We’re just getting it going. This will download my results. We’ll have a wiki-style site. Others can participate in the portal. Various groups, companies, others who offer information about applying genetics to individuals will be able to have a link from the site. 

 

 


Finally, the book comes out in March. I hope you will pick up a copy. Thank you very much. [ Applause ] 

 

 


Thank you Dr. Duncan. Now questions? 

 

 


Thank you so much. This is fascinating. One person’s journey into the genome. Just a couple of comments and then ask you to tell this committee what it should do. This is an advisory committee to the federal government. Some of your closing slides were about people should access this information, but there should be guidelines and information. The seal of approval so to speak. And who would pay. If the guidelines for evidence-based applications of this, if we get an independent group to evaluate these technologies and then they will return don’t use them until more studies are done. Okay, that could be one recommendation from one group. And at the same time consumers are free to do whatever they want with them, you went in with your eyes open, as to the potential limitations of this technology, which is early on. If you are advocating for guidelines and information, how do you reconcile the need for guidelines with the sort of individual freedom to seek whatever you want.You come from a healthy family. I’m throwing too much stuff at you. I would love to hear what you have to say. 

 

 


I did this as a journalist. We almost didn’t do this. It seemed like a reporting gymic. I learned from that. Also a story I did for national geographic. I had several hundred levels inside of me tested. This is a fabulous way to communicate science, using a real person. I said right off I’m a bit different than most consumers. I suppose it’s always driven by a certain curiosity. In terms of the contradiction. I’m talking about in a pragmatic way it’s not that hard to go out and get this information on yourself. You can get it tested in any number of ways. You get several discs with a lot of lines of data. 

 

 


[ Captioner Transition ]

 

 


My new hat is similar for — policy at Berkeley, in terms of policy, I think one has to balance very carefully the fact that this is a new technology, I am in silicon valley, San Francisco, where I live, we see – 

 

 


The government at some level needs to step in. Things for you all to decide, in discussion with the companies. At the end of the day, as a consumer, one needs to have some sense, borne out of one of the surveys yesterday, I believe it was said accuracy is more important than the issue of privacy, which I haven’t discussed at all. Obviously I am releasing my results to the world, not as important to me, the privacy issue, I may be an idiot for doing that, but we’ll see. Maybe there are independent groups, a lot of discussion, our center, academic institutions, for creating rating systems. I think this will all naturally occur very quickly, and this committee could collect information on that and be very useful to have input from all of you and some guidance in figuring out how that will happen. I hope that answers the question. 

 

 


Scott ask next, keep things short so we can get back on time. 

 

 


Can I ask you to share, from the beginning, what experts did you consult and how did you find them? 

 

 


I started out, the whole process in 2001 with my personal physician, and my personal physician, originally, for the original project, retired. These were very knowledgeable people at UCSF, my current physician is head of ambulatory medicine, he had to go online, look up information before he was able to tell me much. When I bring in brain scans he starts rolling his eyes. The second question? 

 

 


You found some consultants, experts to help guide you when you got specific results, and how did you find them and what qualifications did they have to give you feedback on what you had come up with? 

 

 


As a journalist reporting on biotechnology for major media outlets I have access as a journalist, that’s mainly how I was able to access people. It’s my job, to go find people like Francis, other other people who can comment — these things. I have so much material, it’s piled high in my office. I also try to get a balance of opinions on this as well, which is really important. There’s obviously a lot of different opinions, and people, stakeholders, others, that need to be brought into the equation. Much of that will be in my book. 

 

 


Paul — next. 

 

 


This is very interesting, thank you. I was struck by what I perceived to be an underlying assumption I heard in your remarks, actually heard yesterday also. That is about the term health, the search for I am in good health, as if people know, agreed on what is good health everybody is seeking, these technologies offer insight into. I was think being this question of health against the backdrop of two things raised by genetics I learned from Francis. Human variation is a natural part of the human experience. We have anomalies that are a natural part of human experience, and yet we have these technology and companies that are offering the search for genetic anomalies, to identify difference, with the expectation of what? To eliminate difference? Create better health? I have [indiscernible] plasia, I consider myself in good health, yet I have a genetic anomaly. I am curious from your perspective how you see that, if you thought about some of those questions in your journey, and particularly struck by your brother who has OI, osteogenic imperfect a, had they known that 40 years ago would they have done a gene screen to potentially look for an embrio owe with OI and eliminate it, is your brother in good health or bad health? 

 

 


He’s not in fabulous health. This disease has made him disabled, unable to work. Would have been nice to know, probably more for the family than him. When I pursued this trying to figure out what was going on with him through contacts, [indiscernible] a prominent geneticists, he actually sequenced both my genes and my brother’s. It was a COL 1 A and 2 A, Francis can set us straight. 1 A 2. That made coul a collagen, on the conference call up in Seattle with Peter Biers, all very interesting, but at the moment no real effective treatment for what he has, taking drugs that slow down bone loss, but he wants a treatment. Doctor biers immediately said that’s what we are after, why we are after the tests. It’s a case, would have helped the family dynamic to know, we didn’t know what was going on with him. We were fighting — didn’t recognize it as a problem because we come from such a healthy family. It’s interesting to say what is healthy? Throughout these conversations, including yesterday, as a writer, working with words, many of the words we need to back up and define. I know I feel healthy, I know when I see it. Applied to other things too. Validity, valid, what does that mean? I thought a couple of times raising my hands yesterday, what is clinical validation, the other is usefulness. I understand that better, but as a writer and word person, maybe we could talk about Francis, putting him on the spot, he’s become a wordsmith, we will get more information on that. It’s important that we define these words in a way that everyone can understand, including the public. 

 

 


You keep defining your family as a healthy family, not withstanding your brother’s OI, and other issues, so I think health is generally relative in what is a concern, what are these technologies doing to relative assumptions about health, and unhealth, how is that related to disability and non-disability. 

 

 


There’s a philosophical component here too. I keep saying that, that’s my mantra my whole life. At 50 I consider myself — somewhat invincible, I am beginning to realize that’s not the case, but that’s my own — I put that out there because we all have different ways of viewing our health. I think — my brother’s situation, he was very healthy until a certain point. I have to stop, pinch myself, remember he’s not now, that’s a real anomaly for my family. You are catching me up on very deep-felt sensibilities about who we are, who I am. 

 

 


We have Paul, Joseph, Mike, Jim, Mara and we are going to cut it off there. 

 

 


David, thank you very much. I have a three-pronged question for you. Prong one: 

 

 



Get my pencil? 

 

 


No, it’s straight forward. As an experimental consumer, as well as experimental man, what’s your perception of the error rate of the laboratories you were enengaged with? Low, never, what’s your perception? 

 

 


There are various levels of potential accuracy or errors here. The actual raw data on the arrays, I think, anyone that knows these tests, run in the clear labs, tend to be very accurate. I have been run more than once, same ri results on one chip, with no error rate. That’s very accurate. I did have that slide, and we will do a more quantitative analysis of the sites, not only the three here, any others within our purview. I don’t have the data on that, but my swag feeling is that as I said, I think there’s a parameter in most of the results that were fairly consistent, accurate, another term we may have to define. We need to remember from a consumer point of view, any other point of view, these are moving targets. As more information comes in, something really important, to emphasize to consumers, the public, that this information is only what we know now, it will continue to change, and even the sites as I have been monitoring over the last several months, they change. Different SNPs come, my risk factors move around a little, new features are added. Again, I don’t think consumers will be overly bothered with this as long as it’s explained properly. 

 

 


Second part vert of the question, for those with increased risks, how will you monitor them, what evidence are you using for your style of monitoring? 

 

 


I don’t realm really have that many. I am monitoring the heart situation. I would love to share with you the fascinating tests I have had that did convince me with a high degree of accuracy I need to watch myself. Funny enough, with a huge algorithm I was tested on, a couple of the genes that are on the sites we are discussing had an enormous impact on steering this entire algorithm. I had ultra sound, CT scan of heart, lots of chemistry, other genetic tests, and association study SNPs, especially those on chromosome 9, had an enormous impact. We ran the algorithm as if I was hetero heterozygous instead of — the test will probably be out in a couple years. 

 

 


Are you intending to disclose the results of this test when you apply for life insurance? 

 

 


Contacted them, and someone yesterday said they tried to share this with their insurance company, I haven’t gotten much of a response. Insurance industry seems to be sitting back, trying to analyze, figure this out. I did speak to the major national actuarial group about a month ago, ask about this. They said at the moment that the association studies are not yet, don’t yet have the predictive power an actuary would need to apply. You can see there will be an enormous change. My results, I am extremely lucky, I have low risk factors for most of these disorders. If I am looking around, saying who should pay what, I no longer have the same risk factors of everyone in the room, everyone has a different risk factor. How do you determine shared risk system for insurance, determine that? If we all have different risks. That’s a challenge coming up, for how we go forward with insuring ourselves. 

 

 


We have Joseph, Mike, Jim and Mara, can we keep them to single questions, please? 

 

 


Just so you get to me, okay, my question, thank you for the presentation, appreciate that. My question is interrelated. Switch the questioning a bit, in terms of where we sit as a committee, our real concern is what it is we can recommend for the population as a whole, public health question. I will ask a public health question. In terms of use of the information, what is your expected out comes for use of what you are doing, beyond this? The other part of the question really is, whether you have one or not, what would you recommend — prevention, I noticed argument yesterday for a number of the DTC panel, a lot of added value to knowing in terms of motivating behavior. We know that’s not really the case, you yourself confirmed it wasn’t. In terms of use of information, what recommendation would you make to the population in terms of prevention, that sort of – 

 

 


We are in the interim phase here, things are in great flux. In the future, what I believe will happen here is that we will have batteries of tests, already beginning with some neonatal tests, beginning of life for some people, continue to have expanded batteries of tests earlier and earlier in life, giving some indication, I pull out my iPhone, and I believe sometime in the future we will have something called an I House, give us probabilities, possibly measure things like what’s in the environment around us, other measurements that will be factored in, do the work, tell us what’s coming up. I don’t know about live nothing living in that world. Some people will be perhaps frightened by it. When you are talking about predicting the future, essentially what we are doing, we are a long way from really doing that for most people. The rarer the disorder, obviously, as you all know, the more predictive power there is. But in terms of guidelines for preventive care, I mentioned we need to accelerate dramatically the process to Val validate, whatever that words means, some of the resources we spend on pure science, shift rapidly to applying the information to individuals, to find out what’s going on. If one comes out with a — for prostate cancer, mentioned yesterday, a consumer wants to know to make it effective, do a 1000 of those, whatever the number is in a clinical test. Find out if people with that, risk factor, get a biopsy, you come up with results that are meaningful. I am hoping that the federal government and others who have resources to apply to this will focus more on the individual now, how the science applies to the individual. Does that answer the question? 

 

 


You can have my question, I am going on talk about standards, standardization later, but you got my question. 

 

 


I appreciate that, I am save integrity saving it. 

 

 


Jim? 

 

 


Fascinating presentation. You did something right, because you look far younger than 50. I am interested in this idea of personal empowerment. It came up yesterday as one of the justifications for doing this, and doing it now. My feeling is, I want to get your take on it, that personal empowerment only follows from the prior demonstration that this is useful information. I mean there are large percentage of people in this country who find their horoscope personally empowering, but I don’t think we should be in the business of encouraging personal empowerment based on ile losery lusoryy ideas of what — right now, getting your genotype at 500 — do you think it needs to wait until we have evidence you can do something before it’s truly empowering? 

 

 


I think my story is that it’s not been particularly personally empowering. Most of this information for me has proven to be, one of the possible outcomes of this experiment, most has not been particularly useful, not designed to be particularly useful for an individual, a primary point here. I am talking more about the future. What people would like this to be. Any information a patient or consumer is interested in their health can have, understand, use on their own, is important. Of course, extremely important role for caregivers, physicians, others. In this age when consumers have so much access to information there are those as we heard yesterday, that seek it out, almost desperate to have it. I think it is incumbent on this committee, others, in positions of responsibility to figure a way to create an atmosphere where people feel that these are accurate without squelching, throwing the baby out with the bath water. There’s an ongoing experiment on how to apply the information, which is useful and exciting, three or four sites, all have different methods, the — institute, non-profit model, I know of several others out there about to start. It’s one of the delicate moments where in this transitional phase, responsible parties need to make sure there’s some accuracy, guidelines, to explain to people this is a transition period, alongside allowing the experiments to go forward in a responsible way. 

 

 


Mara? 

 

 


I am going to keep to the future-reaching simple question. The role of genetic counseling, you spoke about that on a couple of sites, throughout the initial part of your, obviously, what was the role of counseling, how did that make you feel more or less comfortable, and how do you see that playing out in the future? 

 

 


This phase where people are not used to getting results online, some are, silicon valley culture people are much more used to receiving information and it’s always interesting to come back to Washington, where I lived and worked a loping time, East Coast, we are more involved with getting our information back in — perhaps online in the San Francisco area, West Coast. I liked having the option — first, as a journalist, being able to talk to people, as a consumer, with site that’s offer genetic counseling. Of course that was reassuring. I was getting services pro bono, I don’t know if I would be willing to pay thousands of dollars for that. I may have to think about the price point that’s might effect my answer. I think having some access to somebody that you can talk to if you need to, why I mentioned in my thoughts, ideas, having given careful thought that maybe one way to deal with this is to have physicians that review these results, possibly hired by the companies, maybe independently, not sure which. Somebody watching to make sure there isn’t something a consumer misses. There may be a result they don’t fully understand that’s important medically. There needs to be a system for that. Of course, be great if all the sites had genetic counselors to call. I don’t know if that fits into some of the business plans, or perhaps it should. 

 

 


I would like to thank Mr. Bun Duncan,n, can we try to make it back by 10:00? We will take a break now. 

 

 


Thank you very much. 

 

 


APPLAUSE. 

 

 

 

 

 

I testified that as a consumer, I would like to know that the risk factors I’m being given for diseases based on my genes are as accurate as possible, 

 

 

 

 

Thank you, Dr. Manolio. Our next speaker is David Ewing Duncan. He’s the director of an award winning, best selling author. Dr. Duncan is also the founder of the bioagenda institute. It discusses and analyzes critical issues in life sciences. Dr. Duncan will presenting for about 20 minutes. Then the committee will have about ten minutes for questions and answers again. Thank you, Dr. Duncan. 


I want to thank you the committee for inviting me. I wanted to say briefly, add to the parade here thanking Francis. Francis is always accessible and clear in explaining things. We deeply appreciate that. Thank you for that. I have a lot to cover here in 20 minutes. I am here in morning as one consumer, a party of one, a subset of one, who is tested by all of the testing services talked about in these meetings. Not your average consumer. I am a journalist. And an author that is writing a book.For the book I’m having not only my genes tested, but also environmental impacts on the body. I will adhere that this is all noninvasive. I am also the director of a new program called the sfert for life science policy. We’re launching this fall, there’s a lot nor information about this coming out about this. In conjunction with my book the center is developing the experimental man project. It includes a website, and other activities. And the experiment is for one man to take a wide array of tests. It’s a radical concept. I started this project with a visit to my physician. Who declared me to be a healthy why male, 50 years old. I also come from a mostly healthy family that lives a long time, some of us over 90, a couple over 100. We don’t have a lot of heritable diseases. As we enter this brave new world I want to emphasize what we’re talking about. In the past we’ve focused on the ill and the unhealthy. We face a future here that is a focus on the healthy individual, which is exciting. And we’re trying to predict the future in a way that has not been done before. The committee asked me several questions. I will summarize them in groups. The first being being expectations. 

 

 

 


I mentioned my primary purpose was as a communicator and as a journalist. I have have curiosity.Also a future insight to my future health. Coming from a healthy family. What sort of information did you anticipate receiving? I had fairly low expectations of getting extremely useful information. And the normal consumer I’m not sure would have the access to the information that I have. I knew going into this this is an early phase of the science. Also deep down I wanted confirmation that I’m as well as I think I am. Yesterday we had a presentation about different categories of patients. I’m probably the one that likes to keep myself healthy. Also, I went into this with some expectations about what my family results might be. That was a different set of expectations. I was asking others in my family, who were also tested by the way. It did my pause a minute bringing my family into my experiment. They very hartly agreed to go along with this. The next set of questions are tests and relates. 

 

 

 


This is the bulk of the talk. What tests? The results. The differences. Overlapping results. A baseline of the tests that I have taken — I have tested on most of the major snip array, some copy variance, I have been tested for several dozen individual genes. Coming in the next few months I’m hoping to get my full genome sequenced. By the way, that’s plenty of information even without the full genome. I have been tested by many companies and academic labs, nonprofits. I was one of the few people around 2001, which is the Jurassic age for gene Mick testing. Very early on getting some results. I do want to emphasize some of these results and this information has been around for a while. We’ve been having this flurry of association studies coming out, this information and its attempted information has been around for a while. 

 

 

 


The costs of my tests, if you add it up, for me it was around $16,000. If you add my family in it’s about $20,000. I am gratified that many of the companies did this pro bono or they were covered by publications. If I get my full genome it will be perhaps $100,000. 

 

 

 


My mother and father and brother and my daughter have been tested. I was a little reluctant to bring my daughter into this. She insisted, there we have. I will focus on three companies, what they call the big three. Navigenics, you will hear details of these companies. From a consumer point of view there’s two or three differences in each of the companies. Navigenicss focuses on diseases. They do not do ancestorry. They do offer counseling. They’re more expensive than the other sites. These images are my results. You will get to see them in a minute. 

 

 

 


DeCodeMe has a few more diseases. They have incestry. DeCodeMe is also a company, it’s a publicly traded company. They do drug discovery, their scientists have come up with some of the major studies that others use. They have scientists working in their back shop. At the moment they offer no counseling. 

 

 

 


23andme hits the jackpot for the larger number of traits they feature. It is interesting they have a rating system they put into their large number of traits. They rate things, rate these traits whether they are preliminary or established. There’s some criticism of that. But I think it’s heading in the right direction for consumers to try to understand which of these traits has the best science. 

 

 

 


Two others DNA Direct which is one of the older online companies. They offer only individual tests. I’ve had one test ordered from DNA Direct. It was a different experience than the others. They have a heavy counseling area to this. I talked to the counselor two or three times. Also, they have a rich site. 

 

 

 


The [ Indiscernible ] institute, which is not represented here. I would recommend that the committee look into what they’re doing. They’re genome testing site will be up in the next few months. This is a nonprofit. I’m sure you all know of them for producing tissues and storing cell lines. They’re testing for free 16, 17 diseases about a hundred thousand people over the next several years. They have NIH grant money. They’re doing something interesting for those that consider doctors to be less educated in genetics, they’re starting out by testing doctors in the Philadelphia area. 

 

 

 


Now to the results. I will give you results for three diseases, for the three sites that the mentioned. The first two were randomly chosen. Macular degeneration, it’s an A. And B, I if you look over to the right-hand side columns, if you have a behind you can study this chart more, the critical numbers and items for consumer would be the ones in color there. This is a threat level color code, which I have added here. You can see I have threat level colors that range from green which is low risk to risk which is high risk. The second to last column tells you which company. There’s a number of different snips here for the same disease. On the far right are my lifetime, or overall risk factors that the site give. The far right is the average risk. This is interesting for a consumer. A bit head scratching. The average risk for the different sites are different. My risk factors are also a bit different. In this case it’s not a huge factor. I am low on all of them. Which is really all that I want to know. It’s worth noting there’s a bit of difference there. Another way to present the data here for diabetes type 2. 

 

 

 


19 different snips among the three sites for 15 different genes. My range were from yellow to red. My lifetime risks were within shouting distance of each other, about 4% apart. The average on all of the sites is around 25% for type 2. I’m below that, which is also really all I want to know. 

 

 

 


It’s worth noting there were four snips that overlapped. Out of them, two of them had different enough results they raised an eyebrow for me. Meaning the same snips had different risk factors associated with them on two of the sites. There were four additional snips on two out of the three sites, there were overlaps of the additional four. And 11 [ Indiscernible ] that were on one site only. 

 

 

 


Is the data consistent? Basically to summarize this slide I would say within acceptable parameter. Most of it was fairly consistent. The one area that was strange was to have this variance within a disease from green to red. In talking to the companies they all correlate those and use them as modifiers. That is a little confusing to present such widely ranging results. There was one exception, that is my heart attack gene markers. I don’t have heart disease in the family. I did get what I considered somewhat confusing results. 

 

 

 


On one side I have low risk, one high and one in the middle. For something like heart attack this is probably not the most comforting results. Or for someone like me that wants to confirm I’m healthy it’s not useful information to have. Again, you can see my color coding there. The range from yellow to orange to red. On the far right are these overall risks. And for DeCodeMe and Navigenics you have a 42% to 62%. The average is 49% according to the sites. It’s worth noting my risk factors is almost twice the average on the 23andme site. I think I noticed last night that risk factor had slightly changed. 

 

 

 


Why the different results? I do encourage you could talk to the companies about this. Some of the information that I gleaned as a reporter is that — and can see it as a consumer. There’s different snips used in studies. The different methods for determining risks for the different sites. You also have different methods for determining combined snips. There’s also a reliance or [ Indiscernible ] snips. That has to do with linkage disequalibrium. Not everyone in a population shares these snips. Again, I’m not a scientist. These reflections are through a person who is trying to comprehend and understand this. I hope I get it right. This is how it’s explained to me. In the end this heart attack result did leave me scratching my head. 

 

 

 


I did with later tests find out that I did hit the mother load of a lot of high risk hoe mow zygote snips that indicate that I have a higher risk for heart disease. 

 

 

 


The three generation study with my family I will go over one result, which is a bit surprising. My father and brother are hetero zygote for Alzheimer’s. I was sitting in San Francisco one morning and turned on my computer and got these results back. To see anything to do with Alzheimer social security a Alzheimer’s is a bit scary. I called my father who is 76, about to turn 77. He sort of shrugged and said I made it this far, I’m probably already. My brother equally shrugged. He seemed to be unconcerned. Hopefully that will continue. 

 

 

 


I want to mention the difference between a rare and a common disease for a consumer for a patient. My brother does have a rare genetic it disorder. It would have been fantastic to have a test to know this early in his life. I’m not sure, however, I discussed this with my family, if we would want to find this out in a direct to consumer sort of process. In the future maybe one will not think of that. My brother would prefer to get this through a medical professional. The sites that we’re talking about don’t offer rare diseases. 

 

 

 


Ancestry is fun. I encourage it for everybody. I don’t have a bitter taste. I seem to have a lower IQ. I’m at a higher risk for heroin addition. I will live to be over 100 despite my risk for heroin addiction. 

 

 

 


The crush of data is something also to think about here. We’re talking about a very small number. It seems like a large number. From my project we’re up in the upper hundreds now of markers. Many of these are for rare diseases and things I would have no business looking into normally. I’m trying to do everything for the project. If I printed out my chart right now it would be about 24 feet. 

 

 

 


The final step here, the final list of questions are reactions and thoughts. Did you alter your behavior? I’m atypical here. As a journalist and having a much deeper knowledge of the topic. I did not really alter my behavior. I did have some tests which are not yet ready. Companies that do human modeling. I did find out I have a higher risk for heart attack. I did alter my diet. There was some talk of statins. WeThe pluses, one gets a great insight into personal and societal health. You get a personal empowerment. I believe that the appearance of these companies and websites is pushing along this process much faster than it was going. It’s pushing the health industry to think more about applying this great research. Towards individuals and establishing guidelines and ethics, education and funding. Inwe need more of this. This is a fabulous discussion to be having here. Opening up new avenues for research and medical and drug development. 

 

 

 


A few minuses at the moment. Some of these are temporary. This is early days. Association studies are not always applicable to individuals. Disease and nondisease results are sometimes mixed on these sites. At first it’s jarring. You get used to it after a while. No standards that I can tell as a consumer that reassured me of the validity. The number at the end of the day is your risk factor. I think consumers are a bit smarter than is sometimes given credit for. If you explain to them even the fact that these risk factors may change over time people will begin to understand that and pick it up. There needs to be an educational process. Physicians really had no idea would to do with the division. There’s a potential to frighten certain people. And high costs and who will pay. 

 

 

 


A few thoughts and suggestions. Consumers should be free to access their information. And they will. Any attempt to harness in information or keep it away from consumers, especially with the web the way it is people who want this information will be able to get it. I love the discussion that is going on here. And would encourage that to help me and others to understand. I suggest looking into the core Ella approach. Especially the fact that they have doctors first. They’re testing doctors first. We need to establish guidelines and standards for the tests and the information. 

 

 

 


Kind of a good housekeeping seal of approval. I think most would like some assurance that this information is accurate. A few others here, I think it would be helpful to come up with standards. Disease markers are more important and should be handled differently than ancestry. There’s a way, I believe physicians should be involved with some of the decisions in the companies, in assessing people’s results. And also 23andme did start offering counselors, a locating system online for finding someone in your area. To conclusion, I want to go back to the beginning. Genetics is just the beginning of this process. In my book and in the project we’re also doing environment, brain and body. I have a feeling that a committee like this will be in session for many years discussing each of these developments. There’s a lot of interesting research with using brain waves as biomarkers. They will begin to play a role in preventing medicine. 

 

 

 


I would love to have you check our our new experimental man website. We’re just getting it going. This will download my results. We’ll have a wiki-style site. Others can participate in the portal. Various groups, companies, others who offer information about applying genetics to individuals will be able to have a link from the site. 

 

 

 


Finally, the book comes out in March. I hope you will pick up a copy. Thank you very much. [ Applause ] 

 

 

 


Thank you Dr. Duncan. Now questions? 

 

 

 


Thank you so much. This is fascinating. One person’s journey into the genome. Just a couple of comments and then ask you to tell this committee what it should do. This is an advisory committee to the federal government. Some of your closing slides were about people should access this information, but there should be guidelines and information. The seal of approval so to speak. And who would pay. If the guidelines for evidence-based applications of this, if we get an independent group to evaluate these technologies and then they will return don’t use them until more studies are done. Okay, that could be one recommendation from one group. And at the same time consumers are free to do whatever they want with them, you went in with your eyes open, as to the potential limitations of this technology, which is early on. If you are advocating for guidelines and information, how do you reconcile the need for guidelines with the sort of individual freedom to seek whatever you want.You come from a healthy family. I’m throwing too much stuff at you. I would love to hear what you have to say. 

 

 

 


I did this as a journalist. We almost didn’t do this. It seemed like a reporting gymic. I learned from that. Also a story I did for national geographic. I had several hundred levels inside of me tested. This is a fabulous way to communicate science, using a real person. I said right off I’m a bit different than most consumers. I suppose it’s always driven by a certain curiosity. In terms of the contradiction. I’m talking about in a pragmatic way it’s not that hard to go out and get this information on yourself. You can get it tested in any number of ways. You get several discs with a lot of lines of data. 

 

 

 


[ Captioner Transition ]

 

 

 


My new hat is similar for — policy at Berkeley, in terms of policy, I think one has to balance very carefully the fact that this is a new technology, I am in silicon valley, San Francisco, where I live, we see – 

 

 

 


The government at some level needs to step in. Things for you all to decide, in discussion with the companies. At the end of the day, as a consumer, one needs to have some sense, borne out of one of the surveys yesterday, I believe it was said accuracy is more important than the issue of privacy, which I haven’t discussed at all. Obviously I am releasing my results to the world, not as important to me, the privacy issue, I may be an idiot for doing that, but we’ll see. Maybe there are independent groups, a lot of discussion, our center, academic institutions, for creating rating systems. I think this will all naturally occur very quickly, and this committee could collect information on that and be very useful to have input from all of you and some guidance in figuring out how that will happen. I hope that answers the question. 

 

 

 


Scott ask next, keep things short so we can get back on time. 

 

 

 


Can I ask you to share, from the beginning, what experts did you consult and how did you find them? 

 

 

 


I started out, the whole process in 2001 with my personal physician, and my personal physician, originally, for the original project, retired. These were very knowledgeable people at UCSF, my current physician is head of ambulatory medicine, he had to go online, look up information before he was able to tell me much. When I bring in brain scans he starts rolling his eyes. The second question? 

 

 

 


You found some consultants, experts to help guide you when you got specific results, and how did you find them and what qualifications did they have to give you feedback on what you had come up with? 

 

 

 


As a journalist reporting on biotechnology for major media outlets I have access as a journalist, that’s mainly how I was able to access people. It’s my job, to go find people like Francis, other other people who can comment — these things. I have so much material, it’s piled high in my office. I also try to get a balance of opinions on this as well, which is really important. There’s obviously a lot of different opinions, and people, stakeholders, others, that need to be brought into the equation. Much of that will be in my book. 

 

 

 


Paul — next. 

 

 

 


This is very interesting, thank you. I was struck by what I perceived to be an underlying assumption I heard in your remarks, actually heard yesterday also. That is about the term health, the search for I am in good health, as if people know, agreed on what is good health everybody is seeking, these technologies offer insight into. I was think being this question of health against the backdrop of two things raised by genetics I learned from Francis. Human variation is a natural part of the human experience. We have anomalies that are a natural part of human experience, and yet we have these technology and companies that are offering the search for genetic anomalies, to identify difference, with the expectation of what? To eliminate difference? Create better health? I have [indiscernible] plasia, I consider myself in good health, yet I have a genetic anomaly. I am curious from your perspective how you see that, if you thought about some of those questions in your journey, and particularly struck by your brother who has OI, osteogenic imperfect a, had they known that 40 years ago would they have done a gene screen to potentially look for an embrio owe with OI and eliminate it, is your brother in good health or bad health? 

 

 

 


He’s not in fabulous health. This disease has made him disabled, unable to work. Would have been nice to know, probably more for the family than him. When I pursued this trying to figure out what was going on with him through contacts, [indiscernible] a prominent geneticists, he actually sequenced both my genes and my brother’s. It was a COL 1 A and 2 A, Francis can set us straight. 1 A 2. That made coul a collagen, on the conference call up in Seattle with Peter Biers, all very interesting, but at the moment no real effective treatment for what he has, taking drugs that slow down bone loss, but he wants a treatment. Doctor biers immediately said that’s what we are after, why we are after the tests. It’s a case, would have helped the family dynamic to know, we didn’t know what was going on with him. We were fighting — didn’t recognize it as a problem because we come from such a healthy family. It’s interesting to say what is healthy? Throughout these conversations, including yesterday, as a writer, working with words, many of the words we need to back up and define. I know I feel healthy, I know when I see it. Applied to other things too. Validity, valid, what does that mean? I thought a couple of times raising my hands yesterday, what is clinical validation, the other is usefulness. I understand that better, but as a writer and word person, maybe we could talk about Francis, putting him on the spot, he’s become a wordsmith, we will get more information on that. It’s important that we define these words in a way that everyone can understand, including the public. 

 

 

 


You keep defining your family as a healthy family, not withstanding your brother’s OI, and other issues, so I think health is generally relative in what is a concern, what are these technologies doing to relative assumptions about health, and unhealth, how is that related to disability and non-disability. 

 

 

 


There’s a philosophical component here too. I keep saying that, that’s my mantra my whole life. At 50 I consider myself — somewhat invincible, I am beginning to realize that’s not the case, but that’s my own — I put that out there because we all have different ways of viewing our health. I think — my brother’s situation, he was very healthy until a certain point. I have to stop, pinch myself, remember he’s not now, that’s a real anomaly for my family. You are catching me up on very deep-felt sensibilities about who we are, who I am. 

 

 

 


We have Paul, Joseph, Mike, Jim, Mara and we are going to cut it off there. 

 

 

 


David, thank you very much. I have a three-pronged question for you. Prong one: 

 

 

 



Get my pencil? 

 

 

 


No, it’s straight forward. As an experimental consumer, as well as experimental man, what’s your perception of the error rate of the laboratories you were enengaged with? Low, never, what’s your perception? 

 

 

 


There are various levels of potential accuracy or errors here. The actual raw data on the arrays, I think, anyone that knows these tests, run in the clear labs, tend to be very accurate. I have been run more than once, same ri results on one chip, with no error rate. That’s very accurate. I did have that slide, and we will do a more quantitative analysis of the sites, not only the three here, any others within our purview. I don’t have the data on that, but my swag feeling is that as I said, I think there’s a parameter in most of the results that were fairly consistent, accurate, another term we may have to define. We need to remember from a consumer point of view, any other point of view, these are moving targets. As more information comes in, something really important, to emphasize to consumers, the public, that this information is only what we know now, it will continue to change, and even the sites as I have been monitoring over the last several months, they change. Different SNPs come, my risk factors move around a little, new features are added. Again, I don’t think consumers will be overly bothered with this as long as it’s explained properly. 

 

 

 


Second part vert of the question, for those with increased risks, how will you monitor them, what evidence are you using for your style of monitoring? 

 

 

 


I don’t realm really have that many. I am monitoring the heart situation. I would love to share with you the fascinating tests I have had that did convince me with a high degree of accuracy I need to watch myself. Funny enough, with a huge algorithm I was tested on, a couple of the genes that are on the sites we are discussing had an enormous impact on steering this entire algorithm. I had ultra sound, CT scan of heart, lots of chemistry, other genetic tests, and association study SNPs, especially those on chromosome 9, had an enormous impact. We ran the algorithm as if I was hetero heterozygous instead of — the test will probably be out in a couple years. 

 

 

 


Are you intending to disclose the results of this test when you apply for life insurance? 

 

 

 


Contacted them, and someone yesterday said they tried to share this with their insurance company, I haven’t gotten much of a response. Insurance industry seems to be sitting back, trying to analyze, figure this out. I did speak to the major national actuarial group about a month ago, ask about this. They said at the moment that the association studies are not yet, don’t yet have the predictive power an actuary would need to apply. You can see there will be an enormous change. My results, I am extremely lucky, I have low risk factors for most of these disorders. If I am looking around, saying who should pay what, I no longer have the same risk factors of everyone in the room, everyone has a different risk factor. How do you determine shared risk system for insurance, determine that? If we all have different risks. That’s a challenge coming up, for how we go forward with insuring ourselves. 

 

 

 


We have Joseph, Mike, Jim and Mara, can we keep them to single questions, please? 

 

 

 


Just so you get to me, okay, my question, thank you for the presentation, appreciate that. My question is interrelated. Switch the questioning a bit, in terms of where we sit as a committee, our real concern is what it is we can recommend for the population as a whole, public health question. I will ask a public health question. In terms of use of the information, what is your expected out comes for use of what you are doing, beyond this? The other part of the question really is, whether you have one or not, what would you recommend — prevention, I noticed argument yesterday for a number of the DTC panel, a lot of added value to knowing in terms of motivating behavior. We know that’s not really the case, you yourself confirmed it wasn’t. In terms of use of information, what recommendation would you make to the population in terms of prevention, that sort of – 

 

 

 


We are in the interim phase here, things are in great flux. In the future, what I believe will happen here is that we will have batteries of tests, already beginning with some neonatal tests, beginning of life for some people, continue to have expanded batteries of tests earlier and earlier in life, giving some indication, I pull out my iPhone, and I believe sometime in the future we will have something called an I House, give us probabilities, possibly measure things like what’s in the environment around us, other measurements that will be factored in, do the work, tell us what’s coming up. I don’t know about live nothing living in that world. Some people will be perhaps frightened by it. When you are talking about predicting the future, essentially what we are doing, we are a long way from really doing that for most people. The rarer the disorder, obviously, as you all know, the more predictive power there is. But in terms of guidelines for preventive care, I mentioned we need to accelerate dramatically the process to Val validate, whatever that words means, some of the resources we spend on pure science, shift rapidly to applying the information to individuals, to find out what’s going on. If one comes out with a — for prostate cancer, mentioned yesterday, a consumer wants to know to make it effective, do a 1000 of those, whatever the number is in a clinical test. Find out if people with that, risk factor, get a biopsy, you come up with results that are meaningful. I am hoping that the federal government and others who have resources to apply to this will focus more on the individual now, how the science applies to the individual. Does that answer the question? 

 

 

 


You can have my question, I am going on talk about standards, standardization later, but you got my question. 

 

 

 


I appreciate that, I am save integrity saving it. 

 

 

 


Jim? 

 

 

 


Fascinating presentation. You did something right, because you look far younger than 50. I am interested in this idea of personal empowerment. It came up yesterday as one of the justifications for doing this, and doing it now. My feeling is, I want to get your take on it, that personal empowerment only follows from the prior demonstration that this is useful information. I mean there are large percentage of people in this country who find their horoscope personally empowering, but I don’t think we should be in the business of encouraging personal empowerment based on ile losery lusoryy ideas of what — right now, getting your genotype at 500 — do you think it needs to wait until we have evidence you can do something before it’s truly empowering? 

 

 

 


I think my story is that it’s not been particularly personally empowering. Most of this information for me has proven to be, one of the possible outcomes of this experiment, most has not been particularly useful, not designed to be particularly useful for an individual, a primary point here. I am talking more about the future. What people would like this to be. Any information a patient or consumer is interested in their health can have, understand, use on their own, is important. Of course, extremely important role for caregivers, physicians, others. In this age when consumers have so much access to information there are those as we heard yesterday, that seek it out, almost desperate to have it. I think it is incumbent on this committee, others, in positions of responsibility to figure a way to create an atmosphere where people feel that these are accurate without squelching, throwing the baby out with the bath water. There’s an ongoing experiment on how to apply the information, which is useful and exciting, three or four sites, all have different methods, the — institute, non-profit model, I know of several others out there about to start. It’s one of the delicate moments where in this transitional phase, responsible parties need to make sure there’s some accuracy, guidelines, to explain to people this is a transition period, alongside allowing the experiments to go forward in a responsible way. 

 

 

 


Mara? 

 

 

 


I am going to keep to the future-reaching simple question. The role of genetic counseling, you spoke about that on a couple of sites, throughout the initial part of your, obviously, what was the role of counseling, how did that make you feel more or less comfortable, and how do you see that playing out in the future? 

 

 

 


This phase where people are not used to getting results online, some are, silicon valley culture people are much more used to receiving information and it’s always interesting to come back to Washington, where I lived and worked a loping time, East Coast, we are more involved with getting our information back in — perhaps online in the San Francisco area, West Coast. I liked having the option — first, as a journalist, being able to talk to people, as a consumer, with site that’s offer genetic counseling. Of course that was reassuring. I was getting services pro bono, I don’t know if I would be willing to pay thousands of dollars for that. I may have to think about the price point that’s might effect my answer. I think having some access to somebody that you can talk to if you need to, why I mentioned in my thoughts, ideas, having given careful thought that maybe one way to deal with this is to have physicians that review these results, possibly hired by the companies, maybe independently, not sure which. Somebody watching to make sure there isn’t something a consumer misses. There may be a result they don’t fully understand that’s important medically. There needs to be a system for that. Of course, be great if all the sites had genetic counselors to call. I don’t know if that fits into some of the business plans, or perhaps it should. 

 

 

 


I would like to thank Mr. Bun Duncan,n, can we try to make it back by 10:00? We will take a break now. 

 

 

 


Thank you very much. 

 

 

 


APPLAUSE. 

 

 

 


 

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