 Dr. Saul, for the American Academy of Pediatrics. Thank you so much. It's a real pleasure to be here. When I turned on the news this morning and saw the Today Show and the anchor from Dallas was trying to talk to Matt Lauer about what was going on, they said we all have. And I felt very much at home. It's a real pleasure to present some of the work from the American Academy. And I'm here really as a member of a team, an incredible team that's working on I think some very exciting stuff. So on behalf of the American Academy of Pediatrics, the Committee on Genetics and the Genetics and Primary Care Institute, let me get going here. The initiatives in genetics within the American Academy of Pediatrics are the Committee on Genetics, which is a policy reviewing and setting arm of the academy. There's a section on genetics and birth defects, which is really the advocacy. And what can we do to help Pediatric Geneticist Group? There's a division of children with special needs and it's set up the Genetics and Primary Care Institute, which I'll talk about in a minute. And the American Academy of Pediatrics is now embarked on a specific epigenetics training initiative that I'll mention also. The Genetics and Primary Care Institute is a cooperative agreement between the AAP and HRSA and Maternal Child Health Bureau, Genetic Services Branch. It's a three-year project started in 2011 and through May of 2014, so we're a little over halfway through it. The vision of this project was to improve primary care provider knowledge and provision of genetic medicine, recognizing that this is a significant hurdle. As we've already talked about today, we can talk about a variety of things, but how do we get this out to the field, out of academic centers, where people are providing primary care? And that's one of our primary goals. American Academy of Pediatrics has over 60,000 members nationwide. The three goals of the GPTI. One was to utilize quality improvement science to develop a change package for the improvement, excuse me, improved provision of genetic-related services. And this is, the American Academy of Pediatrics has this incredible network called QUIN Network, Quality Improvement Innovation Network. They have over 300 pediatric practices around the country that have told the academy, when something new and different is coming up that we think will make a difference in children's care, we want to be a part of it. So those practices then, as these projects then come down the pike, are solicited to participate in these projects. I happen to be a subject matter expert in one of those on the Act Sheets for the American College of Medical Genetics and Genomics, and we're now starting one for genetics and primary care. It's exciting to see what's happening with those people, and actually I'm going to give you some of the results of a survey that a good number of those QUIN providers participated in that I think will be useful for you to, in terms of trying to understand the obstacles that we deal with. Goal two was to set up a technical assistance center to address systems and policies, and one component of that was a colloquium on genetics, literacy and primary care, and I'm going to show you some of the results from that. And then goal three was the easy one to embed the practice of genetic medicine into the future primary care workforce. Obviously not the easy one, but it's the one that works now is just starting to get going after we've sort of got goals one and two off the ground, so we're going to be working hard on this one. And as I said, we have significant partners, not just within the Academy of Pediatrics, but we have significant partners in this room, in this endeavor. So we sent out a survey to the over the 80, excuse me, over 300 members of the QUIN project, and 88 respondents. So about 29%. We think that was pretty good. And we're going to be doing a periodic survey of AAP fellows in late 2013. The needs assessment in February of 2012 was really done because, okay, if we're going to be setting up this QUIN project in terms of what needs to be done in terms of getting genetics into primary care medicine, what's sort of established a baseline of what are the needs? This is a reasonably unscientific survey. It was sent out to a group of more motivated individuals, but I think still gives you useful information. So there were the 88 providers, 29%. It was an online 39%, excuse me, online 43 survey. Taking a family history is important, 100%. I gather a three generation family history, less than a third. How do you usually collect a family health history from your patients? I usually ask a question like, do any diseases run in your family? And you can see the other things. Some had a standard checklist. Some asked specific health questions about specific family members. And there was a couple who fessed up and said, I don't get a family history. When they did inquire about the health of family members, over 90% inquired about the siblings, parents, and grandparents. But only half asked about aunts or uncles, less than that about nieces and nephews, and around that, excuse me, less than a third about cousins. And the information that was least likely to be collected was about age of the family members in terms of the problems they were affected with, consanguinity, and ethnic background, things which we might consider important for certain disease problems that we're looking into. Now this is a very interesting slide, 86% order three or less genetic tests per year. And again, we consider this to be a fairly motivated group of pediatricians. 13% discuss with patients their risks, benefits, and limitations of the test in question. Less than five, excuse me, they refer less than five patients a year to a geneticist. But of that group, 90% have access to a genetic professional, and 75% have genetic professionals within 30 miles. Now you can look at that one way or the other. That says 25% don't have a genetic professional within 30 miles, and might consider that to be a geographic obstacle. 83% feel like they have a system in place for genetic referrals. That again, that's self... And there was moderate to low awareness of national resources, but overwhelmingly, they had not been utilized or perceived as useful. Excuse me, of the 12 national genetic resources that were asked on the survey, less than 50% were of the act sheets that were previously mentioned in terms of the newborn screening project. About half said that they felt competent in providing genetic medicine. Now, what's interesting is you might think, well, that was because they trained more recently, or the number of tests they ordered was somehow correlated, did not. 30, excuse me, of the 65%, of 63% of the respondents with an EHR, 65% reported ability to easily and efficiently capture the information as fair to poor. So two-thirds say, it ain't working. Now, a very interesting slide. What would you incentivize you to more effectively integrate genetic-based medicine into your practice? Increased understanding of genetics, which I think translates to education. CME in genetics. Reimbursement was up there. A more comprehensive medical home. And again, we're trying to integrate this whole concept of genetics in primary care medicine into a more aggressive medical home model within four pediatricians. Now, again, this was a select survey. One could argue these results are skewed since this group was more motivated and knowledgeable. Yet in general, they provided reported few interactions with genetic patients. At least those they referred or ordered testing on had wide variability and expressed some discomfort in genetic medicine. Acknowledging a need for the increased awareness, understanding, and the education sources that they need. Associated with that, just recently, we've looked at some stakeholder interviews. We've identified seven, we've conducted seven in-depth interviews with key project stakeholders and experts to look at, again, the barriers that need to be addressed. Again, this sampling was just our perception of folks who felt like we needed to talk to, so they were identified within the American Academy of Pediatrics. Extensive interviews over the phone, lasting close to an hour. Covering a wide variety of topics. What do these people think need to be done? What are the barriers? What can we do? And what are the actionable items going forward? The reports. PCPs lack knowledge and comfort with genetics. They lack a fundamental knowledge about what things mean and what to do. And uncertain of where to turn for for specialty help. As a pediatric geneticist, this is sort of disconcerting because I don't perceive this when I deal with other pediatric specialists. I don't perceive this when I deal with pediatric endocrinologists. I don't perceive this when I deal with pediatric nephrologists. Now, I might not feel as comfortable, because of this barrier with a moat and a drawbridge and a portcullis keeping me out of the castle. No time to incorporate into practice. Lack of education is a concern. Low accessibility of genetic counselors and specialties. Again, this is from the stakeholder interviews. Lack of involvement of PCPs in genetic projects and initiatives. Lack of knowledge of what is reimbursed. I don't know what tests are covered and which ones are not. Some of these tests run into the hundreds, even thousands of dollars. And I don't know what I should order and what I shouldn't, what it's going to cost the family and all that stuff. And again, as a pediatric geneticist I understand some of this and maybe it's because genetics has sort of evolved in my lifetime and some of the other specialties were already there. I don't know everything that's going to be covered but I don't feel that it's this standoffish. So what were the key competencies? Understanding of what tests are needed, understanding of when, understanding the significance, what to do when tests come back negative. That's always the big bugaboo. Just because they're normal doesn't mean that rules things out, which is what a lot of families think. Okay, we're good. That was negative. To refer how to communicate and how to coordinate this complex care. So what are they, what was from the stakeholders then what was suggested in terms of moving genetics in primary care forward, increasing provider education and training. And again, that gets much to the three goals of the Genetics in Primary Care Institute. Evidence to support genetics in primary care is important and does impact outcomes for families, better ways to collect and store family history, improve care coordination, increasing genetics information on board examinations, which we got into a little bit this morning in terms of certification and incorporating genetics into continuing medical education. The impact of low genetic literacy according to the stakeholders was that the problems with a good number of pediatricians prefer not to manage newborn screening issues and some of those are certainly very manageable in coordination with a genetic specialist where sometimes they would just rather take a hands off approach. Providers are not aware of their role in testing or treatment advances with regard to molecular genetic testing. Now what's interesting this slide is to remind me when I pulled my own pediatric genetic colleagues and say what do you think the barriers are this is my shorthand for basically saying they're the same things that the primary care providers say and they're not different but sometimes I think we look at the solutions differently and we have a tough time maintaining the context of what's out there in primary care. So one of the roles of the genetics in primary care institute was establishing a colloquium which was held in October of this past year was looking at genetic literacy in primary care and trying to look at how we can be looking at the knowledge base and awareness of genetic literacy in the medical home. We developed an overarching consensus statement which we have copies of here somewhere I think which can be distributed which you're going to but it is embargoed that I will go with you here. It will melt as soon as you walk out the door. We had speakers and content experts from around and some of the folks from this room and looking at the issues of family history looking at genomics, genetic literacy epigenetics in primary care and genetics and invited guests from a wide range of partners and to try to make sure we had a reasonable consensus about the issues that we were doing. This is a very lively discussion over a day and a half in tropical Chicago and we will spend a little bit of time going through this consensus statement with you because I think this is sort of a blueprint for us in terms of going forward blueprint for us I think maybe it's something that this group would like to look at also in terms of how we would recommend going forward in some of the ways. The purpose of that one and a half day meeting in Chicago was not to all get together and have all the answers. The purpose of that meeting was to try to set forth a blueprint going forward that we could recommend and we basically then had four things and let me just skip through here. One, define how pediatric primary care provider should use genetics and genomics in practice. Two, define, develop and provide the tools and resources then that are needed to integrate genetics and genomics into primary care. Three, integrate genetics and genomics into primary care training in all levels. And then four, provide an evidence base for optimal integration in genetics and genomics into primary care and the more research-oriented component of this. So let me go back through these then. In terms of primary care providers, recognizing that primary care providers are already using genetics and genomics in some ways maybe they don't even know it and so what's needed is an evolutionary process, not a revolutionary change. And this was a big, to me this was a big deal coming out of the meeting. We used the term genetic revolution and I think in many ways we've turned off our colleagues it's it sounds more than I can get my arms around. And so we're basically just asking them to evolve using a lot of things they're already doing. A lot of them are getting family history information. Maybe they're not getting that gold standard three-generation pedigree that we think they do but they are already getting it. Approach primary care using the framework of a medical home model that genetics and genomics can augment and strengthen this. It's not separate. It's all part of the same thing. And emphasize the development of competencies as Bruce was talking about. Not knowledge, but competencies that have, and many of which have already been incorporated into training, but just need to be tweaked. Okay and then looking at the tools and resources, emphasizing the relative values of targeted family histories. Oftentimes if a physician only has that 10-minute interview with somebody, he or she is not going to be able to get the three-generation pedigree but they can at least get targeted information that might be very pertinent to that child's care and potentially other family members. Providing the tools to do that. Encouraging the point of care support tools that are out there for genetics and genomics. Creating those tools for the use in interpretation. Providing patient and family education and support tools that are culturally sensitive and literacy and language appropriate. And then facilitating access for families to family support and advocacy. A strong component that needs to be integrated into primary care, not just what genetics geneticists provide when they see families. And in many ways pediatricians and primary care physicians are hard wired for a lot of this family support and advocacy and we should provide the appropriate tools to help them from a genetic standpoint. Integrate genetics and genomics into primary care training. This is the educational component then. Identifying the fundamental concepts that do need to be learned and integrated but then trying to incorporate genetics into genomics into the competencies. Recognizing the genetics and genomics educational efforts must span the entire educational curriculum and Bruce showed you the genetics vector from pre-professional to the CME and MOC. And I like the diagram that Tom Naska had earlier about going up except that seems to be a loop that I continually drop down to the bottom of and then need to work my way back up. And then looking at what we're going to do in a critical way developing the identifying the gaps filling some of those gaps looking at what we did did we really fill the gaps as we said we had hoped to and then look at what infrastructure is really needed to facilitate the filling the gaps and the research components for this. So that was the colloquium which we think was a reasonable blueprint and a lot of those things will be picked up by the genetics and primary care institute. This will be published the colloquium the papers and the consensus statement will hopefully be published within the next two to four months. We're working on the manuscripts now will be an electronic supplement to pediatrics we hope and we hope it will be of some benefit to the genetics community and the primary care community. One of the other things we're doing the genetics and primary care as I said they're setting up a technical assistance center the website will be up geneticsandprimarycare.org should be up within a week or two. We did have educational webinars we had a series of 10 and I think I'd address that in the next slide that we thought were quite good and were very helpful but we are going to be taking more information out of that and going forward looking at whatever vetted tools and strategies that are out there and trying to again use the strength of the American Academy of Pediatrics in terms of rolling this into the tools for primary care providers we have a significant partner with Nitchbeg in terms of developing a family history tool for pediatric providers that is sort of a next iteration of a similar tool that's been set up for prenatal care providers but it's different so we're excited about that and that's currently in development with a very short timeline and a lot of members around the table here are parts of that group and then looking at residency training initiatives. The educational webinars we had a series of 10 we didn't have thousands unfortunately meeting with us but we had they were well received done on a very short notice there were two to three hundred folks it was not CME we purposely set it up if you will without CME just a half hour and they are archived on the website right now if you're interested the organization for the 10 talks was developed from a manual which I'll show you in just a minute and fact sheets are now being developed from these webinars that will be posted to the genetics and primary care website that we hope again will be of some benefit to primary care providers that want more additional information could this be a template for collaborative efforts with other professional societies and other educational efforts I'd like to think so but time will tell again the AAP's newest strategic planning priority is genetics genomics and epigenetics AAP has what are called mega issues every usually every year but sometimes they will skip a year they've been on early brain and childhood development they've been on childhood obesity primary care the current one I think is going to be on the next one I think is going to be on anesthetic use in children so they identify what they consider to be a mega issue spend about 6 to 12 months reviewing the aspects and then putting the appropriate time energy and money and resources into figuring out how this can be brought to the next level of primary care in some way it was actually called just epigenetics we've argued that it really what you're really talking about is integrating more genetics more genomics and epigenetics into into primary care medicine there's a CME conference that's been funded called dive into the gene pool integrating genetics and genomics into your primary care practice and that will be in August a two day conference for primary care providers I just realized one slide was missing and let me just mention that briefly the as part of this as part of the instructions I was asked to look up what the certifying bodies are doing in terms of genetics and I looked up on the American Board of Pediatrics website and under the certifying examination what's asked for in terms of genetics and Roman numeral 7 tells me what needs to be done but it's basically the deficiency in my mind is it's knowledge it's specifically knowledge based and it's recognize dot dot dot dot dot or understand dot dot dot dot about list of about 40 or 50 different things I think we need to work much harder on that in terms of integrating trying to change that and if you look up the past RRC requirements for pediatrics in terms of genetics to my mind they are woefully inadequate and need a lot of help but as Mira said as everyone says if we put more genetics out in nephrology and this and that I think the point is it can be integrated without making it a false choice the committee on genetics is putting out a new manual medical genetics and pediatric practice which will hopefully be available in spring of 2013 I was hog tied to be the editor and those of you familiar with the red book in pediatrics for infectious disease please don't think this will be anything similar to that it's our first iteration it's our first shot at this and we hope it's of some benefit to primary care pediatrics which is our audience and a companion mobile app is also developing using a lot of the tables and algorithms from this book the committee on genetics is working on various policy statements or it's recently published various policy statements you see here Down syndrome, Fragilex, Prater-Willi and is working on policy statements on ethical issues for genetic testing which actually is I think is almost published that's a collaborative effort with the American College of Medical Genetics and Genomics which I should applaud both organizations it's unbelievable the machinations that had to go through for that but it looks like it's going to be a great statement that both organizations can share looking at the clinical genetic evaluation of child with intellectual disability or developmental delay, Marfan syndrome prenatal screening and diagnosis so we're always looking at things that we need to be adding the section on genetics and birth defects is the folks that are sort of self-identified geneticists within the AAP takes care of educational program at the AAP's annual conference in the fall looks at genetic related topics in the AAP newsletter supports genetics related content in a variety of AAP publications and also now has a listserv for sharing content and open forum discussion group which has really taken off substantially okay I think I it was a great talk Bob I just actually have one comment and one question the comment is that I heard now two talks in a row that people weren't giving CME for these webinars or these short things because it's too difficult I'm sorry that Murray left but full disclosure I said on the board of the ACCME so if people want to drop me an email about exactly why it's difficult I'm happy to pass that along because it really shouldn't be we need to from the ACCME side make this easier but the question for you Bob is the residency training initiatives that you had listed are those at specific programs is a template being developed or something that's all in our project advisory committee meeting in December we started discussing putting spaghetti on the wall we haven't sorted it into meatballs yet all right Heidi actually just drawing on Mira's comment you know I've observed that same comment about it being challenging to deal with CME you know administrative issues and I Harvard has had a program over the last few years to develop CME modules in genetics and genomics and I wrote one on cardiomyopathy a few years ago and it was reasonably straightforward and then the next one in hearing loss and Usher syndrome a lot more rules have been put into place before you could put one of these on and they came back to us and said you have to do this very extensive analysis of you know, practice gaps and basically the end result was it took two and a half years for me to get this module to do all of this sort of administrative work after we'd already written the CME module itself and you know I basically at the end of the process I'm never going to write another one of these things again but at the same time it's not to say that the work they asked us to do was not important you know identifying practice gaps is important as you think about implementing CME programs but I guess the question is what's the right combination of people to deal with these because I didn't feel like I was an expert in identifying practice gaps but maybe I was an expert in genetic basis of hearing loss and so how can we better support an infrastructure to get the expertise of individuals in specialties but support them in perhaps the research administrative process for dealing with identifying practice gaps and that sort of thing and I don't know if Mira can also comment on how to just make this easier because you know at that point I was done with those sorts of things to answer that I know it's difficult any new knowledge is an automatic gap you just have to be able to say that and verbalize that but new technology, new knowledge is an automatic practice gap so I think sometimes we get caught up with a lot of the logistics but it shouldn't be as hard as it is we can figure it out okay we have Bruce, Deborah, Mark and Gene, so Bruce Bob I wonder if a specific issue came up in your survey and that is that pediatricians for all of their professed lack of familiarity with genetics in fact have been using genetics as you pointed out but one of the pitfalls is that it has changed a lot in the past few years and for example many children they may follow who had genetics evaluations that did not result in a diagnosis or for that matter had a diagnosis that was untreatable now in fact may be faced with the possibility of either achieving a diagnosis or instituting a treatment that didn't exist a couple of years back but it's a moving target and I wonder if there was a cognizance of the paradigms they were used to no longer apply and some of the same children that had been the subject of evaluations actually should be the subject of repeat evaluations now that wasn't specifically asked in that survey I think that's something when we do the survey in the fall to the AAP membership definitely needs to be looked at and that's a significant point that we need to be sure we're integrating into our educational component of the GPCI you're right I mean people just say well they saw them three or five years ago they didn't say anything that was helpful let's forget it great Deborah so I there is one statement that you made which absolutely rang true with what happened in the College of American Pathologists is that genetics is not a revolution it's an evolution our knowledge and understanding of the information that can be applied to clinical practice is going to evolve over time and we found that to be a statement that we need to emphasize over and over and over again with pathologists so they don't just get scared and are like a deer in the headlight so that rang very true and we have this was sort of brought forward in the meeting because we have a very strong pediatrician who sort of is very involved with genetics but again he just practices pediatrics day in day out and he was quite offended with the term revolution he said we're already doing this let's make sure we understand what we're talking about here great we had Mark and Jean and Wolfgang did you have your hand up as well or no did you have your hand up as well yes okay and Wolfgang so Mark you're off already so obviously the GCPI has done a great job of doing a needs assessment as we've heard about I'm interested Bob if you can provide some perspective in terms of how you think AAP as a whole will take what was developed from the needs assessment and actually translate that into product beyond what the GCPI itself has done to really make sure that we close that a great question and the answer is I don't know they don't know but the I think the fact that they've identified the strategic planning initiative and something going that almost will essentially follow essentially 2013-2014 if GCPI goes away how it will be integrated into genetics I think would be something that they would take on because again in the strategic planning and issues that they do they devote a significant amount of resources that is people and money to keep these things going so it's really a question of sustainability then beyond the specific target right Gene thank you so much for sharing the resources that are coming available and I just wanted to share with all of you as you create these resources and have webinars or power points or even website links that those kind of things can be shared through outreach on G2C2 and have greater opportunity to reach out to various health care providers so take the opportunity to look at G2C2 and see if that might be something appropriate for your resources to list thank you and Gene for those who may not know what G2C2 is if there's anyone maybe just one sentence on what it is and where it's found yeah G2C2 is the genetics genomics competency center that Dr. Green referred to in his opening remarks and if you even just plug G2C2 into your browser it'll pop up it's a learning repository that's been created for primarily educators but also now the practicing discipline members so take the opportunity to look at that I'd be glad to talk about it more thank you I just wanted to re-emphasize the point you brought up about the gap of knowledge I think for those who are in the implementation and the teaching of genomics it is really also essential to bring this back otherwise information falls only one way I'm more coming from the functional genomics side and I know how much ambiguity is in the data and actually also how many results are false or later proven false so it's a very important function that I think everybody here should implement as well and you had it formalized there that the gap of knowledge should be identified for those who teach and implement and then bring it back to the community it's not a one way flow and one of the things again the pediatricians that we've talked to through this process have said pediatricians at least are used to dealing with ambiguous data and trying to help parents deal with that we just need to make them more comfortable from the genetic standpoint all right thank you very much so next