 We're going to shift gears a little bit now as you can see and I, as I mentioned earlier this morning, we're going to have a panel discussion. I'd like to invite the panelists to come up here and be seated. You know, the rationale for putting a panel discussion at this point in time for the next hour or 50 minutes is really, A, that we didn't think anybody could sit through 15 or 20 presentations of international greatness no matter how great they are for an entire day. And secondly, we want to use this panel as a means to begin to project where we want to be tomorrow. So we don't want to wait until tomorrow to come to our conclusions. We really want to begin the dialogue right now about where we might possibly want to be at the end of the day tomorrow. And I really want to engage the audience in this too. These are leaders just like yourselves in genomic medicine, and they're going to make some statements, but certainly we want to hear your opinions and reaction to what they have to say. So what I've asked them to do in preparation for this is each one of them will have a few minutes to both introduce themselves, their stakeholder perspective, what that is, what do they do for a living, what kinds of organizations are they involved in. And then to really begin to think about what from their perspective also synthesizing a little bit of what they've heard over the last several hours would be the sweet spot of where an international group such as this could begin to move and advance the field. It's not meant to be the conclusive statement, but it's really meant to be the building, the foundational statements upon which we hope this meeting will use this dialogue to do something constructive by the end of the day tomorrow. No particular order, but I'm happy to start with Irene who, Norsted, who's to my right, and we'll just go across this way if that's okay with everybody. So thank you very much, and thank you for inviting me to this very interesting meeting. So I come from the European Commission, and for those of you who do not know the European Commission is the executive arm of the European Union, which represents 28 countries and about 400 million citizens. So what's important to state here is that healthcare is actually a national responsibility, so that is not the competency of the European Union. However, what we can do is that we support, of course, the development of an evolution of healthcare through our European research program, and also the European Commission is the regulator for the market when it comes to therapies and diagnostics and other aspects. So these are the points where I come from, and we have over the last years looked into personalized medicine. We've organized a number of workshops, conferences, and so we have sort of a research agenda that we have followed over the last years to try to address all the different aspects of personalized medicine from the basic omics generation all the way up to the uptake in healthcare, including health technology assessments, methodologies, et cetera, because we believe that it's important for us as a research funder to go across the whole innovation cycle and to make sure that we can create a pipeline for new products to come through and to reach the patients. So our major tool for funding are sort of multi-annual programs. They go over a seven-year basis, and this is where I think Europe differs from any other countries and regions, is that we actually have a stable research funding for a seven-year period, and our new period starts actually this year, 2014, where we will have about seven billion euros for research funding, and also what's kind of unique with what we do is that we fund sort of research collaborations, not only between European partners, but also international partners. So our general philosophy is that we have three partners from European countries, our European member states, and in addition, we can have associated countries, or they can be included, or we can have anybody from the rest of the world can participate in what we do. So we believe that what we do could actually really stimulate and also bring together what we have discussed today in projects that we can fund. We have also collaborated together with our colleagues in health and consumer protection, and we have recently published a report called The Use of Omics in Personalized Medicine, where we start to go through a little bit the snapshot of where we are and all the different aspects that concerns the development and implementation of personalized medicine. So we are looking at the different aspects from a research point of view, but also from the regulatory side and also from the uptake side, as I can give you the web link so you can download this report to have a look at that. There are currently a number of regulatory pieces which are on discussion by the European Member States and the European Parliament that will be hugely important for the future of this area. One of them is concerns data protection, and the other one concerns the regulation of in vitro diagnostic devices. So coming back to that, I'm very pleased to say that the first call to our new program is already open, and we have included a number of topics which I think can be very relevant for this grouping. One of them is, for example, that we will support piloting of rolling out personalized medicine into the healthcare and also looking at the economic aspects of that. The deadline for that particular topic will be in October, so there is still time to put together consortia, and as I said, we're open for participants from across the world. Another area that we have seen is really a value of death in this area is biomarker validation, and there we would like to do a major push into this area. When we come to the key issues for global cooperation, I would also like to draw the attention to the number of already ongoing international corporations that we have that we shouldn't sort of kick off something new in addition, but also to build on what we already have. We already have the international cancer genome consortium, international human epigenome consortium, and in particular international rare disease research consortia, which are already working, for example, on important issues such as standards for sequencing. We also have work going on on ontologies, et cetera, and I hope that could be sort of put into the picture because from my perspective, I think very much of the cooperation as far as we see is very much how do we ensure that we can jointly benefit from the work that we do so that we work on a very solid basis of the data that is generated, a standardization of preanalytical procedures of genetic testing. We have, Eurogene test was already mentioned today, but also to look at that in more global context. Also standards electronic health records, of course, interoperability of data sharing, et cetera. An area that we have looked a little bit on and we find hugely important is the use of statistics. Unfortunately, there are a lot of publications which are published, which are not using appropriate statistical methods and therefore their interpretations are actually not valid. Unfortunately, they may raise hopes in patients that something new is in pipeline and when you go a bit further down the route of validating, actually it proved not to be true. Coming to that, I'm also coming back on standards. Again, about standards, about validation of markers, I think is something which is very important that we start to look at at the global scale. So we really know what we are talking about. Thank you very much. Before going on, I just wanted to ask you one clarifying question. You mentioned a number of consortia that are ongoing. Are any of them focused on implementation of genomics or are they more discovery of genomics? Or are you aware of any that are actually focused on the implementation? The one that goes further, I would say, is the rare diseases, but it's not looking at the really implementation, but it's really paving the way for the implementation in healthcare as well, I would say. Otherwise, it's very much data generation, but we know that it's the important stepping stone and unless the data generation is done in the correct way, it's going to be useless for the implementation as such. Hi, I'm Kevin Moses and I think I provide what Jeff was suggesting should be relief from unrelieved excellence in genetic medicine. My background is not in this field, so I'll do a very brief introduction to myself and then tell you something about the welcome trust that I work for and then what, how we work in this field. So I myself was originally an old fashioned geneticist and then worked in molecular biology and development for about 25 years in the U.S. coming through postdoc and faculty positions and ultimately working for Hughes for a few years helping to found Genelia Farm, which is in neuroscience, but a couple years ago I moved back to the U.K. where I'm now director of science funding at the welcome trust. So the welcome trust is a large charity in the U.S. view. It would be a foundation. It sits on an endowment that was left behind by a pharmaceutical company Burroughs Welcome that about 20 years ago was unwound and became a more normally established foundation with an endowment that generates income that the trust spends. At this point we spend roughly in U.S. terms a billion dollars a year on grants and about 20 percent of that goes to genetics and genomics. We fund mostly in the U.K. We fund about 20 percent outside the U.K. in low and middle income countries with major centers in South Africa, in Kenya, in Malawi, in Thailand, and in Vietnam. We are focused all across biomedicine beyond genetics and genomics. In terms of genetics and genomics the largest single investment we make is in the welcome trust Sanger Institute which sits at Pinkston and I won't go into too much detail because I'll make Tim Hubbard giggle because I'm sure he knows much more about it than I do. Also here with me sitting at the back is Michael Dunn who is the head of our Department of Genetics and Genomic Sciences. So the main as I said the largest investment we make is in the Sanger Institute which is of the order of about 150 million dollars a year playing with the exchange rate in my mind in round numbers. But in addition there's a welcome trust center for human genetics in Oxford which is a smaller but very excellent operation based on originally statisticians and other people. There's also a number of individual grants to people such as Shankar Balasupramanian who was instrumental in next gen sequencing and others. So we have quite a long history in genomics and genetic technologies and in addition but the thing I should say overall is that we are primarily a research funder. We are not implementing healthcare so our goal is to produce discoveries that lead to improvements in human and animal health but we are not ourselves implementers. As I said we have a fairly long history in genetics and genomics, shorter history in healthcare records and essentially human phenotyping and when we come to comments later in the discussion perhaps I mean to my mind this is the harder area of the topic of this meeting is how the human phenotyping and the health records can be brought to standardization and the quality that then allows the bioinformatics to work into the sequence. So to me that's the largest issue I'm sure this is an obvious thought that has occurred to everybody else here before me. That's what I have to say about our introduction. So I'm Victor Zau. I'm the Chancellor for Health Affairs at Duke University but also that CEO that you talked to and that in this case in the health system and I'm a champion of this area as you can see Jeff is I appointed Jeff as the Director of Center for Personalized and Precision Medicine. Now I'm a physician scientist in fact I worked in this field. Irvinda and I go back a long way I see we have read pirates many people I know in this room in working this area but more recently particularly looking at how to champion develop this area and more in the international arena. Within Duke as you know we have the Institute of Genome Science and Policy we have the Statement Metabolic Center we have Center for Human Genetic Variation of David Goldstein many others but my involvement in this area working alongside with a number of people in this room actually is beginning to think about the broader picture and hopefully in this conversation we'll have a chance to pursue this. So one is because I'm very interested with Jeff and I back when we were in Boston in the pre-competitive space and this is probably clearly relevant for the research part of this and the last few years I've chaired the Global Agenda Council for the World Economic Forum at Davos on the topic of position health and personalized medicine and John Wong who's here from Singapore is my vice chair and Jeff's been a great great colleague in this area. So we tackle this area mainly because the World Economic Forum is an interesting place. You know there are many scientific opportunities you know if we I'm going to talk a little about data sharing in Global Alliance many others between academics and there are indeed data sharing opportunities between industry as well or just starting but I think as a collective issue about how to pull together health insurance data academic data you know industry data and research data there's been a very difficult issue to begin with. The World Economic Forum is assembly of people who are CEOs of industry, a farmer about technology but also a CEO of insurance payers Aetna, Sygna, many others are there all health systems like me deliverers and also state ministers ministers of health and this became a really good forum to say is this a really important issue and of course in the concept of economy and health is a big issue and so the promise of genomic and personalized medicine an impact in society and its impact on economy obviously in addition to health is something that's attracted their attention. So what we decide to tackle and we have a the agenda council includes Francis Collins Peggy Hamburg many other people that you know Charles Sawyers etc. is to ask the question what are the things that we can uniquely utilize this forum for the leadership of companies and health system to all agree to go forward in addition to scientists agreeing among themselves and so we actually talk on three different arena what is making the case for personalized and position medicine and here we're doing a modeling is kind of a mathematical or economic modeling to say that if you realize the potential of say reducing diabetes by a certain number or in this case we're looking at BRCA etc. what is the economic impact it's really very impressive we are Dana Goldman who's the head of the Sanger apartment the Schaefer Institute and use USC doing this analysis second work stream is looking at how to enhance the science and here we quickly converge at data sharing I think Dan Roden said earlier about you know the paradox you need large data sets to get the data so if you don't data share you're never going to be able to kind of get the information so we quickly converge to the sharing and the question we're asking is how do we do it differently and and we had many conversations including the recent one in Abu Dhabi and a call yesterday which Francis and others on it where we are converging is to creation of an idea of in fact a metadata the repository kind of like an eBay concept and Jeff can tell you more about this but the safety of policy box where people can put their stuff there you can look at it but for any transaction you still own it but you in fact you can figure out a way to share it and to have incentive in sharing this and I'm sure that we can discuss a little bit more but it's still very early I just want to hasten to point out now I'm getting a little bit ahead of myself in tearing about this the third area is Peggy Hamburg least is the question of harmonization of regulatory and payment issues very important issue in fact I'm part of the IOM round table and I hear them you know on genomic applied to health and of course this is always a conversation and so we are now doing a landscape internationally to look at across all different countries landscape issues about regulatory issues and potentially payment issues so that's where we're pulling together and I think in the steering committee conversation there could be a lot that one can think about how you guys can work together in this the other area I'm involved with and I appreciate Dr. Fadge your comment is in fact I'm afraid I'm the person responsible for the genome cata together Elza Huni and Lot Aradazi we're the three senior policy advisors to Her Highness Shekhar Moser and in fact she charged me with pulling together the whole idea of personalized medicine cata which resulted in this declaration of genome cata with the idea of sequencing every cata read and of course they're building and they get a a health delivery system with electron health record Baobang IT so this is going to be a very exciting project going forward and I thought Tim Hubbard's presentation was particularly intriguing to me of how you organize this and how one actually takes on such a you know sizable project so again there's an opportunity to think about learning from each other and certainly I value I have a team of people with Hal Jacob one of my students David Goldstein and and Jeff Ginsberg who helped me with at least the initial planning of this working along with the cata foundation and their people so auto I want to just read you one thing we did a survey when we began this initiative in the in the World Economic Forum and asked the leaders in industry scientists that are what are the barriers in terms of personalized medicine and I'll just read the numbers to you technical barrier lack of infrastructure to facilitate data exchange privacy issues how to ensure security and privacy absence of well-defined stands for data elements and data collection data is a competitive advantage for owners so what is in fact you know the barriers for sharing and of course the lack of incentive for sharing and of course the issue is that the data sharing is constrained to a country on a small network within the country there are many legal issues clearly that there are things that we should talk about in this context when we have international opportunity to say how can we address these things together moving forward so that that's my introduction so I think Kevin said that his background was far from from this this topic and I won't even tell you how far my background is from this physiologist from the Kelley Institute in Stockholm but I'm here from my perspective for this panel for this discussion is from for that from that of representing a funding agency so my name is Mats Ullvendahl I'm setting a Swedish research council in Stockholm where I'm responsible for medicine health as as secretary general in Sweden research funding is very much based on a bottom up approach which means that it's actually very hard to have centralized programs or thematic programs addressing topics like like no big medicine essentially the only way that we can get something in a thematic way or a strategic way is to get the government to say that this is an important topic and they're extremely reluctant to do so which is very too much of a pleasure of the scientific community which really likes the bottom up approach but it makes it difficult for the international collaboration focusing on specific topics that this doesn't mean that we don't have a lot of research actions or efforts going on with personalized medicine or you know what medicine but it's not coordinated in any way there was a recent report by the European Science Foundation which stated that or concluded that that for for taking you know what medicine or personalized medicine a step forward there were national efforts needed and I think that's extremely important that we get the nations or the countries to work together especially in both countries the healthcare system is based on on the funding and the directives of the governments we have some experience in Europe using an instrument a funding instrument called joint programming which is between the different countries in Europe this is very powerful or could be a very powerful instrument where we work together to address major societal challenges however the experience we have with this working together is that it takes a lot of time and it takes a lot of requires a lot of commitment from from the different countries in order to make this something more than than talk and I think it's very important for the discussion we'll have now and tomorrow that that we go beyond the talking and to set up objectives which actually can be addressed and we could be accounted for if we're going to take this a step forward and to implement I think I read that So well good afternoon you've heard a number of sort of major themes that my colleagues here have said and I'm really going to emphasize sort of one major theme but before that let me give you where I come from so you know I've spent the first third of my life in India growing up in India in a place like Calcutta and and then I've spent the remaining two thirds in the U.S. they're two very very different worlds it's always impressed me that the kind of genetics that we do in one part of the world is often not translated even when it might be in other parts of the world that I still visit and this in some sense is personal because it affects you know sometimes me when I'm traveling being exposed to the Indian healthcare system is a trip in and of itself but it affects many of my close relatives now I actually have to say I've been remarkably impressed I thought I'd come to this meeting I came fairly jaded in thinking I was going to roll my eyes but it is it's really impressive to see how much progress has been made from not only the experience of single gene and rare disorders that many of you have commented on but what's really forthcoming so my other perspective is really primarily on the nature of evidence we are going to accept and what we will consider to be causal and a basis for action and this comes in two ways you know most of us as researchers have in our lives gone out and designed and collected a sample I can say that almost all of my work unlike Kevin has been on the human as a species so we've gone out designed, collected often at great pains as Victor would know in many you know samples but I think we are very rapidly moving to a very very different model I don't think we're going to do very much of that we will do that in the context of clinical trials but much of the research that we're going to do are going to be through these large collections be the national collections or the Vandible system or Israel and how we extract meaning from this data or the kinds of biases there may be or the kinds of evidence we would require I think is actually very different I think Irene brought up the question of statistical significance but it's not only meaning statistical significance what will we consider as evidence that this gene slash variant is involved in a particular phenotype what we call actionable so we are now relying very much on the evidence that's been collected over the last 30, 40, 50 years and I think we need to spend a lot of effort on the epidemiology of these systems what it tells us what are the nature of the patients and I don't think we should take it for granted that this is a simple and solved problem and the reason why it's an important problem that extra dimension is often when we've done studies you know we've done a study for example say in the UK and done a replication other you know sort of ethnic diversity of populations but just from what's been presented today let alone what's to come after this session and tomorrow we have a huge, huge diversity of political systems economic and social systems healthcare systems I like Rob Califf's sort of you know quotation that somebody gave that whatever these systems are there are also questions of genetic diversity I mean I think this is the first time you really have an opportunity to figure out what gene and environmental interaction actually might be I don't think many of I don't think I'm sure I'd like to see data that a particular variant has the same effect throughout the globe and I think these kinds of information is going to become very important so how we design studies in the face of all of this kind of interactions some of which are biologics some of which are not I think is an extremely important part and questions of design and analysis I think are foremost and I'm going to so questions of data sharing that's been brought up I think is absolutely crucial I'm going to leave you just with you know one maybe which is a personal plea that I think Jeff or Terry Minovio today morning brought up the issue that I think Jeff did that in trying to do genomic medicine we should not increase the cost but rather try to be within and my other plea is we shouldn't in fact increase health disparities either that some group get at the expense of others so perhaps one of the outcomes that could come from this meeting is perhaps series of case scenarios or examples many of the examples that at least I heard of today where genetic or genomic medicine is you know taking place are individual examples that people have chosen given their circumstance and their interests and medical needs but it may also be helpful to have one or a few examples that cuts across many nations and systems to get some common experience good afternoon my name is Anne Colby and first of all could I please acknowledge the wisdom of the traditional people on whose lands we are privileged to meet today and I understand there was a recent landmark decision made in Maryland about that congratulations to the state of Maryland I'd also like to thank Jeff and the team for hosting this meeting which I do think is a landmark meeting and thank you for inviting New Zealand I'm a bit of a Philistine in this room and perhaps you might start to throw tomatoes at me I'm a policy maker I am not a researcher and I'm not a geneticist I'm a vocationally registered pediatric surgeon I continue to practice I'm a previous president of the Royal Australasian College of Surgeons so I've worked on both sides of the Tasman south of the equator I've held a lot of senior and management roles in healthcare I have been a director a member of the Board of the New Zealand Pharmaceutical Management Agency which purchases pharmaceuticals for the New Zealand publicly funded system I currently chair a brand new business in New Zealand with my six member business board that board is responsible for prioritizing the country's vote health spend and for us for 4.3 million people that's 14 billion dollars we operate under an accountability of reasonableness framework we are required to operate across four domains which are clinical safety and effectiveness ethical and societal issues including legal and legislative issues economic issues and feasibility of adoption which includes infrastructure workforce finance budget impact and affordability our minister requires us to be able to implement advice is cheap action is quite expensive and difficult to accomplish in complex systems he requires us to do that in a flatline funding budget so we need to be able to understand how to move the money around the purpose to get measurable and I underlined the word measurable value for money for New Zealand citizens which means we have to be able to define the enhanced outcomes across health and disability that our citizens will see and we need to be able to touch the dark green dollars that are invested to achieve those outcomes in a flatline funding budget we currently spend about just under eight percent of GDP on healthcare in New Zealand and healthcare in New Zealand has a very significant negative impact on GNP we have been charged with improving health's input into GDP and reducing its negative impact on GNP as I sit here I've heard some very interesting words all of which as a person who chairs a board responsible for a very new business that's trying to learn how to crawl in quite a complicated world have been very positive from my point of view I have heard the word international cooperation used a great deal I have had heard the word used about transferability and generalizability of information and systems from one context to another and I think that's a really important issue that we should consider as a group I've heard the words about planning and some of you have spoken very eloquently about end-to-end planning from basic research through to actual implementation and delivery and measurement of that and the quality improvement cycle that tweaks our systems as we go forward and I guess I've heard about thinking about the whole of the system in trying to pull this together in some coordinated way if I may indulge you with one very short story before I finish to I guess highlight the difficulties that one small nation faces when I was the director of FAMAC we decided to list a lot of as a third line treatment for non-small cell cancer of the lung not based on genetic testing sensible commercial strategy was then subsequently to split the market by listing Jaqvitinib as first line treatment targeted by genetic testing FAMAC did that with our knowledge in the National Health Committee and then we had to set about implementing the IGFR testing regime for New Zealand and trying to decide did we have the right pathologists and you need two types of pathologists to do this where did it sit in the model of care for stage three and four lung cancer how did you collect the specimens what sort of specimens who was going to collect them what patient populations would be managed and we know exactly how many patients we have with this disease in any one year would we send the tests overseas or would we ask I love the term homebrew them how many labs would we ask to do them what would be the turnaround times now when you run the economic modeling over that you get vast variation and the vast variation is heavily fed by what the mutation rate is in your local population we don't know the mutation rate and the RCTs were largely done in Asia and we're not quite sure how to transfer that so we have no idea whether this test is cost effective now put that beside the cutting edge research in respiratory medicine that's been done in lung cancer in New Zealand which shows us that in our own environment we have one of the worst records in the world of diagnosing people with stage one and two disease why is that and one might well say perhaps we should move the money from TKIs it's a top spend for FAMAC in the public system and put it into trying to identify the patients much earlier and maybe there are I'm not a geneticist maybe there are some things that you can all help us with that would improve that system of care so the thing that I have been asked to do by the government is to get proper end-to-end models of care and decide which technologies best get value for money when applied to that model of care and quite frankly we need all the help we can get from many of you who sit in this room who understand the science and how we can best apply it but your research is only as good as how we get to apply it to the patients that we're responsible and privileged to treat every day Thanks all of you at this point and really a tremendous diversity of experiences and opinions on where this field can and should go I want to encourage you to react to one another's statements if you wish but also the audience to begin to ask some provocative questions that will get us down on the road Mark? Yeah, so Mark Williams Geisinger I also want to I love that story because it's something that we deal with all the time which is where's the best allocation of resources and in some sense I have a certain amount of embarrassment getting out of bed every morning as a genomic medicine person and saying gosh we got to go to it because I know that if we put the same amount of money into truly improving our systems of care we could have a much larger impact probably in a very short period of time and so I think we have to recognize that we have that dilemma so the question or the point that you made that I think is really relevant and I'd like to hear the group talk about because I think it's something that is critically important for all of us that are in the space of research and implementation is that it's not only about developing evidence but it's developing the right kind of evidence to answer the questions that are really important for the healthcare system and while we've had some attempts within the Genomic Medicine Working Group to engage with stakeholders from the payer community and from government healthcare systems and other representatives I don't think that we have clearly identified a way to match the questions that are going to be of most importance to the research and implementation that we want to do so I'd be really interested in hearing ideas about how we might be able to do that I'll start if you want because it was a question that our minister the Honourable Tony Ryle asked me when he set up the NHC so and admittedly this is easier to do in in a confined system like New Zealand where most of the resources publicly funded so what the NHC management and scientific team has started to do is to build a program budget across the whole of healthcare and that program budget is currently based on disease states big picture disease states like cardiovascular disease so we now understand what we spend in secondary care what we spend in farms what we spend in diagnostics and we can clump it up by disease states and then we can explode those disease states and say what do we spend on lung cancer what do we spend on chronic obstructive pulmonary disease someone and we can put that on a grid chart someone showed a beautiful grid chart today of disease versus survival as I remember which is a similar thing and that starts to give you and I'd love to put those two things together that starts to give you a little bit of a roadmap saying here are your problem areas so let's invest in that and that also starts to give information to industry and information to researchers about how we develop things that hopefully slowly we can pull being fit for purpose into business as usual which is the aim of an overarching health technology assessment agency that has responsibility for a notional budget so that's our embryonic start to answering your questions thanks is anybody else want to address that and I want to comment I'll make is that it seems like what you're recommending is we start with what some might call is the unmet medical need which is where actually industry also is motivated to fill that gap with therapeutics but I would say the genomics community doesn't necessarily function that way it's been more built from the bottom up of the base of research that we've all used and experienced but we haven't said to policymakers like yourself or health system CEOs like Victor what's really causing you the most what's causing you to lose sleep at night that we can potentially address using these new technologies and work from that problem back to what science is needed to address those problems is that a reasonable way to frame your answer a little bit more so this question of the economics of the way you're presenting it it sounds a bit like companion diagnostics in terms of economic analysis now of course that's for cancer but a lot of these things if it's germline then the genomics england strategy of course is red disease and cancers as particular areas but if you can get the infrastructure in place and you do the whole genome and you store it then that's a one-off cost and then everything else all the subsequent use of algorithms to check that for any future thing through the lifetime is essentially almost free and it's instant there's no waiting around for a diagnostic decision either and so the economics changes completely you can't really you've got to sum the economic impact across a person's life and all the possible diseases and the hope is of course that that will turn out to be much cheaper than all these different tests but it changes these business models which are based around diagnostic testing I'd like to just follow up on Irene's comment about taking advantage of existing structures I'm the chair of the executive committee of ERDIC and ERDIC in particular has come up a few times already in discussions today there are several people in the room who are also involved with ERDIC and I thought with permission I just take a it's the international rare disease research consortium there clearly is some overlapping there are overlapping discussions within ERDIC and some of what we're talking about today at least in the rare disease space so I thought I would just take a minute to explain what that organization is ERDIC has two central goals which is to catalyze development of diagnostics for essentially all rare diseases but also to develop 200 new therapies for rare disease by the end of the decade so it's clearly about translational research it's not just the discovery research consortium by therapies we don't mean things that work in a mouse we mean FDA or EMA approved new treatments there are three scientific committees one deals with diagnostics one deals with therapeutics but there also is an interdisciplinary committee that deals with ethical legal social economic issues that pertain to genetic testing and clinical axiom sequencing et cetera et cetera and these are some discussions that appeared in a lot of people's talks ERDIC involves over 30 funders collectively they've pledged well over a billion dollars toward the research goals of the organization many of them are public sector funders but many of them are also private sector funders there are two big funders Shawner and Jen's on here both members and there are several biotech companies active in that area who are also active in ERDIC ERDIC also involves patient organizations again which points out this is about translational research this is about helping people with disease and finally I just want to say there's a lot of overlap between ERDIC and the global alliance both organizations are dealing with facilitating standardization of data harmonization of data facilitating data transfer dealing with streamlining consent procedures and the like to facilitate better data transfer and there are people individual scientists who are actually active in both organizations at the same time so I just wanted to I thought since Erin keeps coming up I thought it would be appropriate to say a bit more about it and I can answer questions about it as the meeting progresses Thanks does anybody like to make a comment about ERDIC Irene? Yeah I could add on to that that also in the context of ERDIC we have started to support what we would call clinical bioinformatics where we put together the sequencing data together with the clinical data as sort of an embryo to build further on as well into that sphere Hi I have two comments or questions one regarding the everybody says data sharing and you know large databases etc being involved in quite a lot of these consortia activities the issue of harmonization of data coming from different places is a major major major issue it's not simply just that we have the freedom that everybody you know will just take his data set and put it in a common domain it really is very hard and especially if groups come from different backgrounds okay and we ran into very funny situations when people were trying to analyze databases that they were not familiar with okay so you know in nutrition and this and that they differed so much around the world that really I mean it's an easy statement to share data but you know I believe that just sharing the genetic test result is hard enough to get harmonization there and there the rules are clear but to to share follow-up data with follow-up methods and then the whole we're collecting background data could be a disaster I mean again we're trying to work on minimal databases in a variety of consortia get correct other Simba but it's quite painful so I'm just warning from you know using this term very often but the other issues that I really want to to see yes please come on you're on stage not me so so um you're an extremely smart gentleman but um but but so I would say that at least from the point of view of epidemiology and including in genetics I think there is now quite a bit of evidence as to what harmonization takes it's not perfect but I think many of the reasons why the credible results for any of these GWS results has come from fairly difficult you know harmonization method so I I think I would say that the prescription is to improve the criteria for harmonization of phenotypes you have to do this otherwise I think just standardizing sequence level data is going to be in so far and maybe prospectively try to put some ground rules as what data to collect well well that's why I you know I wasn't giving strong suggestions that one of the things is to do one maybe a few projects that cuts across various sources just to see where the actual problems lie okay so my second question in a sense is to the same thing ah sorry I want to also let some of the other panelists respond as well Victor and then Kevin well I you know I don't think we're naive about this anybody who walks into this knows the long list of problems so I think really the issue is as you said what we can do about this and you have to put on the table for such discussion right and obviously I hope that through the efforts in terms of these trying to put the data together you begin to develop those harmonization standards importantly I was very interested in listening to Tim Hubbard because you know for for getting a phenotype what you put in electronic health record this is going to be really interesting aside from introoperability is the information they can derive from it and you've done a lot of analysis how difficult this so we're not naive about this by all means but it is the big issue to tackle isn't it so the second question I want to throw back again is with these four different organizations do you have to harmonize the ethics and consenting rules did they all have the same consenting systems because I can imagine this is also going to be a major effort yeah pretty much so well in Israel by chance we have a national genetics IRB committee so every individual IRB committee of any institute has to be approved the the decision of it has to be approved by a national group which we think is a pain but but maybe bring some more harmonization of that side of things but that question is really in a sense a little more practical we were historically in the field of screening etc because it always required huge groups to be studied on a population base what developed in the 70s was a whole line of demonstration projects now a lot of people here have raised the issue of getting evidence and then the hardship of getting evidence in a field where you're actually working on individualized results okay and it's really very tough and and and hard to the question is do you see any agencies and the people here from the you know NIH and from the EU and all that do you see any way for demonstration projects to be fundable on these issues because usually if you I mean these are projects that scientific organs don't like so I will start on that one so we actually have a call open where we invite actually for pilot projects in rolling out genomic medicine or personalized medicine into the healthcare to actually build the evidence we have in Europe a couple of models and I think the best model we have for time being is in France since the French National Cancer Institute I don't know Professor Sarota is going to present that tomorrow yes yes he is which I think at least at European level is by far the best model that we have that you have a pan national molecular testing for all cancer patients and the system set up with pathologies etc I don't want to go ahead but I think that's that's really fantastic there are also other we have heard Estonia there I know there are activities going on in the Czech Republic and also at regional levels you have hospitals in Germany for example who are implementing sort of this at the local level so to say so I think what we also would need is a much better mapping of all the different pilots going on but we are definitely willing to go in and fund pilots and also including health insurers and the whole sort of system because I think that's one of the very important points in driving this area forward is actually to work with the payers in to getting the right questions answered when you set up those pilots otherwise that would be a waste of money as well so we really need to think carefully when we go forward into those areas I wanted to also to make the comment about the importance of ontologies and again coming to the area of rare diseases a lot of work has been done in terms of harmonizing ontologies and I think that's something that before we go in to talk about harmonization of electronic health records et cetera we should think about the ontology side of that and to to harmonize that before we go in to start to share because otherwise again it's going to be a lost opportunity if we can't understand what we mean between the different regions and different groupings that can be publicly available I wanted to build off of the same topic of data sharing we've been working in creating centralized resources for data sharing and one of the barriers that we've come across is international laws prohibiting patient data going outside of different countries and we've hit this in a number of places so I wonder if anybody you know either on the panel or in the audience that is in a country where where laws prohibit you know sharing data outside the boundaries of the country and how you see that going forward will that continue to be a barrier or there are ways to get around this how can we all you know work towards true international data sharing anybody who on the panel I can just mention at European level we have a new data protection regulation on the table for discussion and agreement by the member states it's not an easy piece to discuss about and the European parliament has been very restrictive in terms of research use the commission we are very much trying to defend the point of to protect the use for research and we hope that the member states are going to help us to to go into that but it's really in the hands of the member states for time being and we hope that we will have a positive outcome as for the rest of the world I hope other panelists can I don't think I don't think that you're going to get around these barriers and the reasonable alternative is is to not move it around but federate the querying over it and I think that that is technically difficult but potentially feasible and that would not break privacy but would still allow aggregate data you know to be extracted but that's a technical thing and then maybe the global alliance can implement that kind of technical infrastructure that's kind of what's being discussed now that would fit in nicely but that with that construct as well yeah just one comment to this huge problem of data sharing I think the whole spirit of this meeting is and there might be an answer it's pilots if you go for pilots you can keep it small and thereby use it as a test ground so I think it's very important to today and tomorrow to choose the right pilots if we could only do one which one would it be if we can do five which ones would it be so we don't do pilots just because some of us happened to be able to do them and we look for the lost key under the lamp just because the lamp is there thank you nice point does anybody want to react to that well I think pilots are very good and I think that's a very good idea but I think also it has to be discussed why do the pilots I mean since my background is not in the field I can allow myself to to ask a stupid question here and implementation which is the title of this panel discussion is that the research or scientific problem or is it a political problem and look at from a national point of view and as a funding agency I see it's quite much as a political problem if we're going to implement genomic medicine we have to demonstrate that it's it's a cost benefit into doing it and we also have to discuss the ethical problems which are related to this before that has been solved I don't think any nation will promote genomic medicine in and put money on that well demonstrate cost benefit but also expose the political landscapes that challenge them so I don't see them as a you know there's a science in us in a policy piece to this do you want to react to that I would say we talk a lot about cost benefit in terms of economic value but we shouldn't forget the patient benefits as well because that's I mean it may be more expensive but the patient outcomes may be far far better than what we had before Patrick yeah it's one in the spirit of an international collaboration I think well one thing that we definitely need is some sort of a standard I said or reference samples that people agree on that could be sequence in different laboratories and cross compare the results from one and another and it's certainly for some of the cancer genome sequencing there's actually tremendous variations in the sequencing quality so I think one one thing that would be useful as I think maybe for this community to decide on the sort of set like 10 genomes or certain tumor genomes to spike in controls how we can call different types of allele frequencies confidently in different centers all over the world because I really don't think that there is that sort of reference samples that can be uniformly distributed towards all of these labs that want to do pretty much the same sort of technology so I'm just one I'm just throwing that out to see if I mean that could be one basis or one of these pilots for implementation there are a number of efforts already underway to create reference samples that are being distributed in the U.S. for laboratories so we would like to know about those and then we could actually maybe the point though is that it shouldn't be just U.S. centric given the amount of diversity we've even heard about today and we undoubtedly will hear about more across these different nations so cancer genomes are a somewhat different problem meaning in the sense of how much sequencing you need to discover at what level Dr. Mishra and then Dr. Amrila Me? Yes Well the actually every one of us we know that what is important all of us we may know that delivery of affordable healthcare so I was thinking from that point of view along with the other issues and the delivery models are of course they vary from place to place country to country I was thinking actually what could be the future model it could be for certain diseases a model is different for certain diseases the model could be different maybe unless we come out with such kind of some kind of a white paper recommendations it is extremely important how we deliver such things thank you