 y cwestiwn yr ylloc Rhexa'r llai'r ystod eich tro o'n ei wneud, mae'r argyrchan ni cofnod eich maen nhw'n ddefnyddio'r gael'r llai'r adroddau edrychiadau sydd yn ei wneud ei hun wrth eich clinicaeth. Mae'r gosig yn y tawch sydd wedi'ch ei gweithio eich sgwrdd ymlaen o'r Fally. Mae'r llai'r tawl hwnnw, ac ar hyn o'r llai, y lle痴ach i'ch gael'i'n ddechrau, a'u wneud oherwydd neud y taethau o'r gwleidiau. Mae'r cwestiynau o edrych yn y cynllun yn ddod o'r syniadau sydd y dyfodol. Mae'r cwestiynau o ddynamiadau cyfnodd, cyfnodd i ddweud y cyfnodd. Yn ymgyrch yn ddod. Mae'r cyfnodd yn ddod o'r cyfnodd y ddyn ni'n ddod o'r cyfnodd a'r cyfnodd o'r cyfnodd, a'r cyfnodd yn ddod o'r cyfnodd y dyfodol. Mae'r cyfnodd i'r hynny ddim yn eich adeiladau iawn i ddim yn ddod o'r cyfnodd, ac rwy'n meddwl, mae'r cyfnodd yn ymhynghau cyd-af i'r cyfnodd. Yn ymhynghau cyffredig o'r cyfnodd yn ei ddyn ni'n ddod o'r cyfnodd gyfan arferyfanumphau gyda chi, fyddai'r cyfnodd o'r cyfnodd sydd yn ymhynghau cyffredig, smells. What could be added that would allow this to move more quickly? One thought, I was just throwing random thoughts on the table. But you know you all, or an HDR-funded research who helps identify hunches, things that you think may be true based on maybe small studies laboratory, things like the Clipkicker grilled example. Folks like us have access to data and patients, but we are not in the thick of the kinds of ddechrau'r cwestiynau y dyfodol ychydig. Rydyn ni'n gweithio hynny o'r ddweud y maen nhw o'r Cansr Unweddau sydd o gallu cael ei wneud eu gweithio mewn mynd amserau sydd o bwysig o'r cyfnwyr p53 a os i'r cyfnodd a'r gweithio'r cyfnodd o gweithio'r cyfnodd panerfyniadau. Er fuddwch yn gweithio cyfnodd o'r cyfnodd a oedd yn cyfnodd ac mae'n cyfnodd cyfnodd gan y cyfnodd yn y dda i'r tyn i'r llyfr. those kinds of questions that you may have you know just hunches about we could quickly do some large-scale Automated retrospect of relatively inexpensive studies not definitive, but at least to give you a sense It is it is it really kind of playing out in the real world. We would love to have a flow of questions if that was some some way of thinking about that so so I'd compare that with what happened with the human genome where the genome was freely available and so everybody downloaded it and played around with it and had hunches and ideas in the middle of the night and just coded them up and experimented with them. And that's where it's difficult to do it right now with you're talking about going and surveying over patient records and associ gun data because all the ethics get in the way. So some of the systems being built in Scotland and the Ukraine in England. The idea is least to lower those barriers but there will still be barriers. Pierdoedd oedd byddwch a gwahanol a gwahanol yn your онаeth fel pob wahanol ar y peidiwr. Rwyb ur ad�oddyrfa. Rwyf â cynnghaormol ystafell a'ch unig ysgrif. Tywy bydd angenught ar medder w instructions. Yn y gweithio at y nesaf, mae'r aflygiad y gallwn seats yn excavio Wrongen, a'r cryf gan bobl i gael, ac eich tynnau mwd yn diolch rhan containassedigeth, pan mae unrhyw o erbyn sefydlu argyn �d Enw oherwydd yn llwyllfa ar y們raedd cywir. It needs to be much more of a programme activity that's much more systematic. We also actually need to, I think, one of the things that has puzzled for quite some time, as an epidemiologist, one of the things that's certainly happened in the UK is that we had this kind of brain drain out of epidemiology going into bioinformatics. You know, you guys thought that's where the fun was, it's not. So seriously, I mean, it's been very difficult, we've had a real skills shortage and one of the things that we need to actually start to do is actually bring the epidemiologists and the biostatisticians together with the bioinformatics people, we have a lot to learn from each other. Our clinical data is dirty, it's messy. It requires a lot of understanding about epidemiological issues like biases and confounding and so forth to make sense of it and analyse it properly. But for our scalability, we badly need to learn a lot more, I think, from a lot of the large-scale data approaches that have happened in genetics. I think that's a really important point, I just want to leap on to this since it relates directly to the strategic plan and the strategic planning meeting because I think we heard exactly that same opinion stated from several people in that meeting that these are groups that we need to somehow aggregate and figure out the methodologies that could then be promoted to a group like a medco or someone. So, you know, this relates to what we talked about yesterday about developing the Swedish methodologies that we think have a certain amount of validity and robustness within the clinical environment. So this seems to me to be something that we need to really flag as a takeaway to say, can we really make this happen or is there a role that NHG or ICANN play in terms of making this happen? Thank you, Tim. I have a request to make because one of the issues that there is is every time there's a loss of data and invariably that loss is within inside the clinical process, we the research end get not the blame but the pressure comes on us. In the 17 years that I've been involved in this area, as far as I'm aware, there has never been a loss of data from a research enterprise, but we really get hit in the neck every time there is a loss because we have the big data sets, you have the data of millions of people, whereas hospitals have the data of hundreds of people or thousands of people. And so it has to become, I think, and one of the most interesting things from presentation three or four presentations ago was in terms of integrating with the EHR has got round one of the major problems which is the medical legal issues of when you integrate something who accepts the responsibility for it. Now, by getting the patient to consent for that, it neatly gets around the problem. And what we have to do is get the millions and billions of patients all sticking the box and saying, we understand the value of this, just get on and do more. And they have to saturate the .000 go on zeros per cent of people who are the do-gooders that try and say you can't touch this data because you're released something out there and someone will be identified. That is just not the way it is. So I think one of the things, go from this meeting and multiply, ensure that everyone in your hospital starts talking and just using that effect to get patients to say do more of it please. So I heard rumour rumblings from over here. So does that mean that there has been a case of researchers releasing data? Yes, unfortunately at our Heart, Lung and Blood Institute. We lost a laptop that had MRI data on it that had patient names and I believe social security numbers including a member of the Hill staff. So it was a very high profile and very embarrassing case. So my comment relates to the UK where we wouldn't... Well we have strict rules, we don't put data on laptops at all. Exactly. We have those rules too. And if somebody does it, they get sucked. Remember the UK did manage to lose the bank records of half the entire population of two DVDs, not in the medical area. No, it is an issue. I think the one thing that you're doing and that perhaps if you can do more, if I understand what ClinVar is supposed to do, it can be an extraordinarily important resource because in our work we have SNPs and we have these genetic variants on our watch list and saying when do these rise to the point that we begin to integrate this with family history. But you go and you ask people from Harvard, you go different sources, you get different answers about whether these have gotten to that level. And if ClinVar can step up sort of to be like an NCCN of that where you can go to one source and say look, this is now past the threshold and we can incorporate that, that I think would be being the trusted agent in other words. I just want to clarify one thing I said about the patient report because I realized it created a little controversy. An institution can decide that when a patient signs on that report has to go to a clinician. Those are institutional decisions. We as the developers didn't want to have that as a default. We want the institution to make those decisions. We didn't want a default because who knows where that report would go. We want to make sure that report only goes to people who are authorized to see it. So there is institutional control over that. But ClinVar I think is a great idea if it can rise to that level. Just a warning, you know, remember that of course there's population effects. So if you get a variant in ClinVar, you know, it may work for some parts of the population but not others. Steve Cherry wants to say. Yeah, I think to follow on that point I think ClinVar is exactly imagined to be that, to serve that aggregating function and on your point it really needs I think a careful consideration on the data model for the epidemiological properties and the quality of the evidence to facilitate this translation from tier 2 to tier 3 or up and down. I mean there's an aggregation, convening function of data but we want to be able to present the assertions or the evidence in an efficient way as well as the conclusions that go up to the decision support tools. So one of the things that we've been quite interested in is trying to interface with people here on having common data models, say for things like drug exposures and so forth and just making sure that we actually all use the same approach wherever it's possible or at least map to them. That's a really important point, you know, if you want to get everybody, you want to multiply this effect it's having common data models and standards and maybe funders only supporting people who use the same models, things like that. Maybe problems about SNOMED because it's commercial, getting buying SNOMED into the public domain, these are practical things. A technical workshop on this might be an efficient next step as a recommendation. SNOMED is public, you can use it for the US. But there's problems about redistribution. If you want to make a global system, NCBI can't just stick it up in NCBI because it's not licensed for that. We did get permission from the science of genetics. Ultimately, there's lots of them. Is everything's a genetic disease? I wanted to follow up on this issue about ClinVar because I think there's a philosophical issue here that we really need to deal with. At what point does ClinVar have to give up its role in curating this data? The difference between standardization of nomenclature, standardization of data entry, quality control, making sure that if two different people report a mutation that they're using the same base pair and the same amino acid, that's the sort of thing I think ClinVar can be very good at. I think ClinVar can also be very good at putting in, for example, so-and-so thinks that this has the following validity, whereas so-and-so thinks it doesn't. But now the next step, which is being able to pull that information out and turn it into usable information, that I think requires curation and how are we going to do that? Because I think that my general experience dealing with gene clinics, dealing with OMIM, dealing with a variety of other such databases is that we're not very good at supporting long-term curation efforts. And if we're talking about some sort of partnership that's going to require money, I think that's an area where we really need to focus. Did you get that, Eric? You're a buddy. So I wanted to, I guess, amplify and comment on two of the themes that I've heard here, and these both, again, come out of the NHLBI workshop we had a few months ago, so I think I'm speaking not just for myself but for many others. One is to build on the comment about not losing data, and I would argue, and I think we discussed this at the meeting, again, with the NHLBI workshop, that it's not just getting more people to participate, but it also refers to any data that is generated in a laboratory test. And there was general consensus that we never want something to be lost and erased just because it was deemed not clinically valid, not to have clinical utility, not actionable, whatever. The data still needs to be maintained, preserved, annotated, kept available because it may become relevant in the future. And I think this very importantly tags on to what Bob said emphatically and clearly yesterday that as a clinician we just need to know the creatininess for, or the variant is such and such, and sometimes we have no clue what it means, and sometimes we already know about it and we're non-plus. Sometimes it shows improvements, sometimes it shows worsening, but before you just say all clinicians are stupid and do scary things, collect some data and find out if that's just anecdotal or if it's really the case. That was only point one. Point two that comes out of the workshop from a few months ago was, again, a thought that there needs to be some basic clinical decision support rules, algorithm suggestions, guidelines, but the idea was that smart, highly motivated, opinionated people are not going to reach consensus on every single one of these things. So the idea probably needs to be to come up with a basic set of what we think is good guidelines overall, but allow at some level, and here's a role where I think NHG or I can fund research or facilitate doing this, allow variability at the regional, local, hospital system-based level to say, okay, we're going to take this basic guideline and we're going to modify it in such and such a way based on whatever hopefully evidence-based situational decision support changes we need to implement here. But where they disagree is that where there's a real disagreement because maybe our experience with multiple opinionated curators is that in cases where there actually is something to agree about, they will converge. Yeah, but that's a low-hanging fruit. Yes, but is Howard calling it out? And is everybody in the room who's a clinician knows that patients come into our office every day and their question isn't, when should I come back because there's agreement on a rule? Their question is, I'm here today with a problem, what should I do? And those of us in clinical medicine have to answer it. So it doesn't help to have a guideline that says there isn't enough data yet. And my view of this is that the disagreements are the opportunities to really frame what is the question that we need to answer because that's basically we're arguing about belief as opposed to truth, if you will. And so if you could incorporate that in the process and say, okay, this one looks very promising, but there's this disagreement, this is where we could use. And I wouldn't necessarily put it all in an HGRI obviously because I think the other ICs have a role. And I think there's also a role for trans NIH efforts like what is now I think called the Health Delivery System Research Network, the formerly HMO Research Network that's funded through the Common Fund. These are the types of things that can be forwarded to them and say, look, who's interested in taking on this problem and look for ways to kind of facilitate this and then also develop partnerships with groups like Roberts that are in the private sector to say, this is a question we think you're very well positioned to answer because this is something that we can do out of a claims data set as opposed to a clinical data set. So it's a matter of looking at all those sorts of things. And the second thing I just want to say in response to Howard is no one says that physicians are dumb, but what they do say is that if you measure any clinical process, there is unexplained clinical variability around that process, which means we do things differently and we don't know why we do it. I just wanted to pick up on something that I think it was Dr. Calange who was talking about yesterday and the work of EGAP, it's been really thorough because it needs to be because evaluating clinical utility is a thorough business. But by definition, that's also meant that it's been rather slow and you haven't had that much. So what I wanted to know is, are there any international initiatives in it? So for example, within the UK, my understanding is that NICE are being tasked with the responsibility of evaluating the utility and approval of potential genetic tests. So have you any relations with NICE or other equivalent bodies internationally? And should that happen to accelerate this? I absolutely think it should happen. We don't, so I'll just start there. The PON seems to be a formidable barrier between us and you, but NICE would be a natural collaboration because the methodology is actually very similar. There are other international activities, but they're not genomic specific. And the grade methodology, which is more international and not quite adopted completely by either the UK or the US, is another strategy, but it's different. And so while there's a great overlap between EGAP and NICE activities, trying to figure out how to rope in the rest of the European Union and Canada, who are great affection autos, is something we're all still wrestling with. So I guess we heard by a couple of speakers today that any solution to genome-based medicine is going to have to be scalable. And I'd just like to suggest sort of a related but different concept that any solution is also going to have to be a highly accessible one in that in our country we really have such a lack of continuity of care that it doesn't matter whether individual medical centers or healthcare systems have access to the same data, genomic data, vis-a-vis scalability, if different medical systems have different patients, genomic data, of course there's an accessibility issue. So maybe obvious to many in this room, but clearly this data needs to be somewhere in the cloud or in the patient's domain or on a chip implanted within the patient or something along those lines. So in addition to scalability, accessibility is also an important part to the solution. And yeah, I mean there's a lot of efforts on health information exchanges, so I think it goes along those lines. Just wanted to comment on what NHRI specifically can do in recognizing that everyone's budget is getting cut and I mean, you know, the dots moving that way but obviously getting to like the $1,000 genome is the priority compared to some of these efforts. I just wanted to ask that NHRI coordinate with some other agencies that are specifically funding tens of millions of dollars in the space. So for example AHRQ, there's a meeting I'm going to go to early next week that's going to be discussing, I think it was $10, $15 million they spent exactly on this topic of translating nationally and there's the Office of the National Coordinator for Health IT. So it's called ONC if you're not familiar, I mean they spend, you know, at this point, I think it's gone into the billions into the space but they're spending tens, hundreds of millions of dollars in the Office of the National Coordinator for Health IT, ONC. So and the Department of Defense just spent like $10 million on trying to develop this kind of capability. The Veterans Health Administration is spending hundreds of millions of dollars on building a next generation EHR system called the VEVA. So there's a lot of folks working in the space, whether it's by for building systems or whether it's putting together grants contracts to get this work done and I think if you can get in touch with the right folks and get personalized medicine, genomic medicine, family history based medicine incorporated into some of these projects then for very little money or no money I think you can get some of these ideas advanced. So for example AHRQ there's John White who heads up a lot of this and ONC just got Jacob Ryder who was the Chief Medical Informatics Officer at Allscripts, one of the EHR vendors who just started as the Head of Dysun Support for ONC and there are people who are very interested in the space and I think if you can connect with the right people this can be advanced along with all these other efforts that are specifically targeting the space. Okay, so that seems to be maybe a good place to stop and go out and try and interact with all these groups that are developing things that might be also sources of money. Excuse me for a moment. I'd like to just make an announcement. Jackie and I are in the process of making taxi arrangements to the