 Thanks. Great. You'll see the mystery about that volume adjustment in a minute. So how many of you took family histories on November 24th Thanksgiving Day, a.k.a. Family History Day? One. That's what I thought. So I've been asked by the committee to talk about family history implementation program I think maybe for obvious reasons. It's not done seldomly. It's not done often and it's often not done well. So to quote a famous leader of ours, Charis-Ang, it's the best kept secret in healthcare, family history. By the way, I presented some of this in June at the June meeting and I was out of the room when this agenda item was put on the list so I assumed there was a method to the organizing committee's strategy here to have me come back and I'll talk about a somewhat expanded view of this project. I think everybody in the room understands the obvious opportunity in capturing good family history information and using it effectively in clinical medicine. We've been working on a project that we call the Geno-Medical Connection. Since about 2004, actually this project was conceived around 2000 or so and it took several years to convince the Department of Defense to fund it and this was obviously before we had fancy machines to jude genome sequencing and limited genotyping. So family history has been one of the projects that our group has been focused on for quite some time. I show this slide mainly to illustrate the fact that we can get a lot more done in terms of implementing genetics, genomics and things like family history outside of the university affiliated practices and this is Central North Carolina, Greensboro, somewhat known for the furniture business and near high point and so on has been where we've been working with the Cone Health System on a family history project and we've been working with other non-university affiliated practices in implementation and dissemination of genomic related strategies. So this takes place in Guilford County, it's about 40 miles west of Duke University. Our goal has been to recruit individuals from well visits, from two high volume primary care practices with a goal of enrolling 1500 patients in this family history study with a focus on education, integration to practice and outcomes measures. I think it's clear that family history has got a number of, to take an accurate family history has got a number of significant impediments to it in the context of a very brief primary care visit. Oftentimes the patients are not coming with the right information in hand. Even if they have the information, the clinicians are often confused about what that information really means and how to synthesize it into some recommendations and that has been discussed by several of you already. How this data gets into health records is a little bit obscure and also how to mobilize a family history driven health plan is equally challenging and our premise has been that if we can use electronic media, internet based tool to have patients prepare their family history information pre-visit and have this synthesized and integrated into a clinical decision support tool that enables the physician-patient interaction at the visit to really be focused on what needs to be done whether it's nothing, genetic counseling or genetic testing might be a preferable way to practice. And we've developed a web-based family history tool we call METRI that can be accessed through the internet as I've mentioned. When we were developing this tool almost 10 years ago these were some of the guiding principles about ease of use, ability to actually use published guidelines for risk ratification that we get the patient reports to be understandable by both the patients and the clinician and that they drive a discussion at the visit around the meaning of the family history information and we've incorporated as you can see a multidisciplinary team to implement this. So our developed family history tool and platform can capture data on 48 different diseases. We've been piloting this study in four different diseases that you see here, three cancers as well as one in vascular disease and thrombosis and the report that are generated are for both the patient and the provider. We've used a number of sources that I won't go into detail here that are used and updated to develop the informatics and clinical decision support algorithms. This is an example of the report that the physician sees, so it very clearly states what the recommended actions are, why those actions are being recommended and what other attributes of the patient might be considered as well as the sources of information that were used to generate those recommendations. The patient also sees a report that really as I said encourages them to have a dialogue about whatever risk information has been conveyed to them with their physician and try to come to a decision about what should be done. This particular family history software has some attributes that we believe are at least different than some of the others that have been made available through either the CDC, the Surgeon General or the VA. So you can see that this particular software allows for patient entry, does also name relatives in the family, has decision support and as we're illustrating in this project can be integrated into the clinical workflow. So this could be one report that would be generated that would be a more traditional family history tree but what our clinicians have told us is they don't like that, they don't understand it. They really want to see a tabular report such as what you see here. We began this project in earnest around 2006. We really want to understand the ability of patients to understand the information in such a report. So we did a number of pilot surveys and cognitive assessments of the language with the patient community and we also test drove it with genetic counselors so that we could understand how that information might be integrated as well as how it was received in the reporting. We also have got a team that has been frequently looking at clinical guidelines in the target areas and updating the clinical decision support algorithms to be concurrent with current recommendations for genetic counseling or genetic testing and this is an implementation science program so we're really trying to measure outcomes best as we can at both the patient provider and at the systems level. The first part of this that we've done the most work on is the process, really figuring out how it integrates into patient, into the clinician's workflow in the clinician environment as well as the patient and physician satisfaction. Does it influence patient behaviors? Is it a valid tool and does it kind of be also shown to have an, can be shown to have an effect on outcomes to generate clinical utility and the like. Also from an implementation science component, this is just a snapshot of some of the types of data that we're trying to capture both at the patient level, the provider level as well as the clinic level and this is done in an iterative way to ensure that we can achieve something close to seamless integration with the appropriate workflow environment in which the tool has been placed. These are some of our early data on patient acceptance of such a protocol and you can see by far and away most patients are extremely satisfied with using such a tool in the context of clinical care. They're not threatened by the use of the internet or computers. They found that most of the software that we've ended up using has been very acceptable. Surprisingly the provider community which in our early focus groups was somewhat resistant about having this sort of inserted into their environment has been unbelievably supportive. They now believe that family history is incredibly important. They believe it's improved their practice, made their practice easier. They're recommending it to their peers and when this project ends they're not sure what they're going to do without a funded program to continue the use of it in their program. So this was very different than what we expected. In the first half of the cohort as you can see more than expected number of referrals for genetic counseling and some for genetic testing but we're having these data reviewed by a completely blinded group of genetic counselors to assess the clinical validity. So far these appear to be highly valid results with a sensitivity and specificity of greater than 90% but we need more data. And I thought given the fact, if I can figure out how to do this, that this was around Thanksgiving and I wanted to show you a patient and provider perspective. We had a new station, this is not going to work, okay, never mind but we did have a really poignant interview with patients that were using this and how profound effect it is of this knowledge that they had which was empowering in terms of their behaviors that I wish I could show you. In addition to which the providers were saying how wonderful it was as the surveys indicate to have this as a robust tool within their environment as well. So I'm sorry you couldn't see the video clip but as this summary indicates we've enrolled about 1,000 patients, I think I've said most of this but one of the things we're trying to achieve is also not just how do we integrate this information into the clinical environment but what's the model for capturing the information, delivering the risk information and you can imagine that this could be a prototype for some of the other ways that we not just use family history but use other types of risk information such as genetic risk information. So in the future and areas that I think we should be talking about perhaps in the breakout session later on areas for collaboration is the incorporation of additional risk information to the platform whether it's new diseases that we're currently not studying or new types of risk information such as genetic and genomic testing. Because this has been a DOD study we're very keen to implement this and so is the DOD into the military healthcare system which is one of the impetus for the DOD funding was to create a model that they could actually use more broadly to broaden the decision support. We think that the use of wireless technology to capture this information beyond just using a home-based computer screen is going to be incredibly important and the use of text messaging to set up reminders. So I think with that I'll just stop and take some questions and certainly those of you who are interested in family history can join us in the breakout session. I just also want to mention that Mark Williams and Karis have both been doing family history projects maybe several implementation projects such as this. You may want to add some comments to what I've said but go ahead. Hi, Umberto Villegas from Marshfield. Very, very interesting stuff, couple of questions. I'm one of those people that inherit that OCD so I get a family history for my patients. When I see them updated it becomes a challenge and seems like everybody updates it because nobody else reads somebody else's family history. I take it there's like a central repository that gets updated and then everybody shares it and then the other question is on patients whose first degree relatives were consented, they did not consent but they get their care at Duke. How was that information entered if at all in their medical rate? So on the first question we have an aspirational goal to do what you just said which to have a centrally hosted information repository for the family history but that is predicated on having an electronic medical record that can support that and that just doesn't exist today but is something that we hope will be available in the future and I would just say also our view of this tool, this software is that it should be centrally hosted and accessible to any practices that wish to use it so we're trying to move in that direction and we can talk about more of that later. Your second question was about the use of gathering information from... We're not linking that at this point but again it's a topic of discussion and we hope to do that but again it's right now this is a research protocol patients are consenting so we haven't gone out to consent the other members of a family. I've got an additional point to embarrass and then ask a question following that. We are at Intermountain have developed a family history data mark where the representation of the pedigree structure of course will remain set and is updatable but we're using a primary collection tool much as Jeff has described that would be deployed in primary care clinics. We also recognize that within specialty encounters throughout the system components of family history are collected that are relevant to that specialty so we've been exploring modules specific for cancer that would collect more intensive cancer data but it would all go back to this family history data mark and so over time you have an updated and enhanced family history for a much broader range of diseases that not only hopefully will prevent the patient from having to answer the questions over and over and over again but will also allow exploration of other associations that perhaps were not immediately a parent or not known. The other thing that I would potentially add for your moving forward bullet points also relates I think to a bit to Umberto's question which is the idea of exploring social networking between families to allow family histories to be shared. Now granted there are part of that research agenda would have to be exploring what's allowable under current privacy regulations and under what circumstances it could be done but we've certainly had a lot of patients who have been extremely and this may be a Utah specific phenomena but they're they're used to sharing genealogic information from family family and they don't find it upsetting to think about sharing health information along that same sort of a model and you can imagine this type of a distributed collection of family history where if it all be captured you know within a family data family history data mark and would be available to multiple family members could rapidly increase the speed at which this type of information could be collected and used so I would like to explicitly add that to the research agenda. I think well first of all clearly social networking is a component of how you actually get this information in the first place but it's not on the as sophisticated a platform is probably the one you're envisioning but and I would also guess that social networking as a as a as a healthcare tool is worth worthy of discussion but how do you deal with the myriad of privacy and and policy issues that have to go along with that is is probably a formidable agenda but I'm not saying that should stop us but we should really consider those aspects thanks mark you may not be familiar with the various levels of billing codes when you see patients if one admits a family history one cannot bill as at a level five for a new patient one doesn't review the family history one can't review at a level five for an existing patient so there's four there's an implicit value that CMS has assigned to taking or reviewing a family history it's $28 for a new patient and is $26 per visit for an existing patient so it's an interesting policy opportunity to try and talk about the cost of taking and reviewing a family history is is already accepted by CMS and then try and benchmark that against other genomic interventions that we may choose to do yeah thanks for making it right now I was gonna say the same thing except it also is just illustrative of the thorny complexity of our reimbursement system and how it plays into this entire area of risk assessment Jeff this is Mike Murray from Brigham we've been involved in several family history projects and you've broken through in one area where we just can't which is the support of the primary care providers and I think going forward that's gonna be essential since patients have routinely told us stories such as the one patient who was enthusiastic shared his family history and his primary care doc said everybody dies of something and then put the family history aside so do you have any more granular feedback on why your primary care providers are interested and enthused about this a couple of points first of all this goes to this the discussion we had earlier about institutional leadership so Tim Rice is the CEO of the cone health system and as I said it's not a filler it's a community-based health system that has a far-reaching cashman area and Tim is very interested in having his community-based system being known for its advances in genetics and genomics so it's a very top-down environment where a visionary CEO is at least in this area has encouraged his community base docs to at least put their toe in the water and see how it feels and having done so I think they became adopters over the course of the first six months of this project hearing the feedback from their patients and seeing how much more effective and efficient at least they felt they were being in the care of these patients was huge so they so our goal is to have these docs to be spokespeople and ambassadors for the rest of the community and even to bring it back to Duke which is not it's not currently happening at places like like Duke for probably the similar types of reasons that you experience it at partners Jeff I might just just ask in terms of integration with the medical record we just any from from Vanderbilt did this nice summary of the five initial emerged sites looking at completeness of data and you know 80 to 90 percent complete from medical for medications and that and it was like 20 percent complete for family history and only two of the sites even could tell us how complete it was for family history out of the out of the five and I understand that Serner is putting in a family history module could you comment on how we can get that done so first of all there's there may be others that are more familiar with EMR integration family history than I am this system this group of practices does not currently have an integrated EMR but they're moving in that direction at Duke we're working with Epic and that is one of the one of the topics with our CIO and the Epic integration team as to how do we move this into a centralized resource such as an EMR so do others have experience with Serner or with other EMRs in which had there has been success well I know the mark you probably have but that's good there are a couple of ways to skin this cat I mean one is the ideal situation would be to use the the EMR but of course the challenge that we have in the EMR world right now at least the vendor based community is it's all being driven off of meaningful use so there's a group of us that have signed a letter that has gone to the advisory committee for meaningful use of the Office of the National Coordinator for Health ID to say you need to move family history up from the phase three implementation to phase two implementation which would actually get it on the radar screens of the vendor community in the next year as opposed to three years from now it is on the roadmap but it's down the road so meaningful use will drive integration of family history into electronic health records whether the level of functionality will be anything that would be useful is not clear to me the second thing that we can use perhaps to get around this however is through patient portals or patient-controlled medical records where there's much more innovation space and that if the data model is developed that is compatible with the electronic health record and data warehouse storage capacity that information could be inputted you know in a way that wouldn't necessarily have to involve interaction with the electronic health record and messages to the clinician could be filtered back into the workflow without having to have family history represented as a true component of the electronic health record so there's some opportunities to innovate around that potential roadblock yeah I'm glad you brought that up actually one of the pilot projects we're running right now is use of the patient portal to to capture the information and then this centralized the the information goes to a centralized server that hosts the clinical decision support tool for family history and then flips a report outside of the EHR back to the doc which is not perfect but it works and Dan before you comment I'd like to ask Greg Fero who's been involved in NHGRI's family history efforts for quite some time too so yeah I just sort of extend Mark's comments a little bit we had initiated the in conjunction with the US Surgeon General then it was Surgeon General Karamona the my family health portrait family history tool and part of our efforts over the last several years have been to drive development of family history data standards and adoption of those data standards in the context of electronic health records so currently there exists what's called a core minimum data set for what EHR and PHR systems should be able to capture the minimum about family history and their HL7 data standards for movement of that information around HIT systems the extent to which that has been adopted has been very variable commercial vendors many of them already had some basic functionality around family history data capture largely unstructured and when it was structured not structured in ways that other EHR systems could readily grab on to that being said I think Cerner is an example of a group that's looking at the HL7 model and has adopted it I know Epic has worked with it there are some one-off examples I believe at UVA in the Harvard Partners system with Jennifer Haas's project that have looked at integration of structured family history data I think something to consider for this group is family history is viewed a little bit like genomic data in that there's a little chicken and egg phenomenon going on here with the vendor community which is show me the benefit to the patients get provider demand up and we'll build the functionality in the data structure that's necessary and I think family history is an interesting proxy for a number of issues interoperability of data is key for family history as it is for genomic data issues around consent and data sharing are important to consider version control which was already brought up earlier it's a good proxy any easy proxy for people to wrap their brains around about so who's going to control annotations to the individual patients genome in the medical record figuring out through family history first might be a way to go so anyway there's there's lots of lots going on in that community and the meaningful use issue is a very interesting one of that of course I think would be a much bigger driver than the twenty six dollars that CMS currently is willing to pay for family history collection and data interpretation thanks for Dan nothing I'm about to say should be viewed as as excessively negative but do you have data on how many people have such small kindreds that they're not used that the family the effort that goes into the family history is not useful it was question one and the other question is as I listen to the outcomes part you know we're taught in medical school that the family history is important but beyond that why it's important and where we should focus our efforts is not such a big emphasis and it seems to me that the big payoff in your project so far has been to identify people who may have family cancer syndromes and so whether there is some value in focusing the family history on parts where we have I hate to say the word action ability and and not worrying about whether you know great-grandmother had something that you don't actually know how to characterize you died of cancer or something or died of a heart disease or died of old age or whatever so is there a way to focus the family history and bring it into the 21st century in terms of the kinds of information that we're looking at so we don't we do have data although I don't have the the data for you on the uninformative family history pedigrees that we've captured but we they're there I'm sure and I I think you're right I think we need to I think the the meat of this project is going to come several years down the line not just in in in understanding who has at risk for familial cancer syndromes but have any of their screening tests been informative and actually prevented something that or or earlier detect detected something earlier than otherwise would be I should say and I didn't mention this before that a review of these particular practices for the years pre preceding this project showed zero referrals to genetic counselors by any of them so presumably there was a there were a number of important familial syndromes missed up until now and presumably we will be able to have data in the in the ensuing years on the value of capturing that information so a bit obviously from Utah I can't comment on the small kindred question that you raised Dan but if we set that aside for a set of answers and one of the things that really surprised me was how frequently this is being used in behavioral health that when they have a patient who comes in who's having some issues around depression or that sort of thing they're taking family histories around depression bipolar disorder to determine which medication should be used how long should treatment be maintained if it's a child is this conduct disorder versus attention deficit disorder very innovative ways that intuitively makes sense but for which of course we have no data on whether or not that's appropriate or not so the clinicians that are actively using family history are doing some very innovative things with it and I think we one of the things we should be doing is exploring more of tell us what you're doing and then we can use tools to enhance that and I think that will also help with the issue that Michael raised about buying it so I was responding to Dan's comment about how people use this information what I tell our medical students is that first of all if you go to a cocktail party and you talk to somebody very often the opening for conversation is something about the other person's family so it's the way for the physician to get to know the person and their family a little bit that's a side value but it when it comes down to doing the pedigree there's two challenges one is to get all the information and then how to separate the wheat from the chaff and that's why I think getting it in tabular form we ought to avoid that it's the pedigree that actually allows you to say well it's great that granny had you know whatever but that's irrelevant to this problem at hand today it just can't get you just can't get there based on the pedigree so I would urge us to remember genetic principles so the 21st century model of the family history I think there won't be an insignificant family history because there's going to be a flip here where we've been using family history forever to as a proxy for genetics and now with genomics we're going to be using it as a context for genomics so when we're thinking about the whole genome sequencing we're not thinking about it doing it on any patients at this point unless family members are involved so so putting those novel variants into context but kind of the transition between what we're doing now and then is where we're at on that but we do need to move on so we have Debbie Marugu and Dave and then that'll be it okay I was just going to bring up the context of I think family history is is really important and I agree that focusing on sequencing of families is extremely important right at this juncture but I think we need to think about how we're going to get at the novel mutations that occur every generation in our in our population and how they contribute to disease right I mean this is an important question they are genetic if they arise they will be passed on I mean can we begin to address that if we more systematically study family so is are you saying that the somewhat of an interim holy grail is to link family history with genomic sequencing information so they're all in the same space that we can begin to look at how generational sequence how how how genomes are changing over generations and also what is happening phenotypically I mean I don't know when I think here believes that family history trumps or is a substitute for sequencing or vice versa that the two pieces of information need to go hand-in-hand which is what I think you're at least it doesn't mean that doesn't mean right so I mean we need to be able to look at different models for how DNA can impact disease Morgan man I come from Ohio State I'm kind of spinning on a couple of different things here I think part of this is excuse me it's not just genetics though it's learned behavior it's learned behavior of how you eat how you exercise you get that from your family get that from your parents you get that from your social networks and family history can get that information too and so if we get beyond just looking at the genetic information there's a lot of other things that are in there I mean people get heart attacks and their 50s or 60s but it could be just as easily from their diet as it is from their genetics and so in addition to getting the genetic information they'll learn behavior portions still gonna be there even after we have sequencing information available so my my comment to that is just as there are a myriad of family history tools that some of which we've seen here today there is an equal number of not more of health risk assessment tools that beckon the clinician to try to capture lifestyle information behavioral information diet and so on that could be integrated into this as well to create a more complete picture of what's going on with the individual and their family and physicians generally don't have the time to capture that information on their own I just like to say this is an absolutely critical issue as we go to paperless awards which we're all reaching right now it's just not easy to record to obtain and record a pedigree on the warts and we need to come up with some easy effective and electronic way to do this so please join the breakout group this afternoon David thanks