 Good morning, everyone. We are really delighted to have you all here. I hope everybody was able to get in without any difficulty. And I want to just cover a few logistics before we get started today. The first is if you could please turn off your cell phones. Remember this will be starting at 8.30. We're going to be doing this as a live webinar, so people will be able to hear you on your cell phone from everywhere. So please turn off your cell phones. In addition, because we will be doing this with a webinar, when you have a question there's microphone in the back, or use the microphone for the faculty champions that are sitting at the table, please press the button. The red light will turn on. Please make sure you use the microphones whenever you have a question or part of the discussion, and then when you're done just push the button to turn the microphone off. A couple additional issues. We will be accepting questions from the webinar participants, so in addition to you all who are our priority group, if there's time then we'll be also having our speakers answer questions that will be coming through the computer system. And then Eileen Castiglia on the side there is our conference coordinator extraordinaire, and if you have any questions about logistics, please feel free to talk with Eileen. The restrooms are back down the corridor and turn left as if you're going back to the elevator, and so hopefully that'll take care of most of the logistics of anything. Is there any sort of logistic question that people have before we get started? Well, good. All right, so I want to first start out with introducing the person who's sort of the co-chair with this with me, who's Dr. Jean Jenkins here at the front. We tried to get around the room to introduce ourselves to everybody, but we may have missed a few people as you've come in. And Jeannie is an extraordinary traveler in addition to everything else, so hence our little travel pictures, and then of course I'm Kathy Kelzone. And so we have been working together to move forward genetic and genomic competency for all nurses, and clearly we see that the faculty is sort of that vital role of all of this of preparing the new nurses that are coming into the fold. So what do we mean by faculty champion? We're calling you faculty champions, and what exactly is that? We think of that as people who are really passionate for a new idea, and within your school are going to be able to lead and teach others, and are going to be able to put the energy into this initiative to move some of this forward for your school. That's one of the reasons why this was a competitive application, and one of the reasons why we're really looking at that year-long commitment. This is not the kind of thing that you can go home and be done with overnight. They're like the gatekeeper, the person that people can go to within the school, and we know that champions who are effective are able to accelerate how long it would take to take an innovation and move it into either practice or education, and that's why we've chosen to sort of take that approach. So why do we want to do that? It's that acceleration. I think when Dr. Gutmacher comes to speak to us this morning to deliver our keynote address, it's a testament to how rapidly this is moving out and can move into practice, and so we need to be able to respond to that. Nurses are in every setting. I certainly don't need to tell you all of that and are being confronted with that every day, and so as a consequence, we need to be able to think about how quickly we can respond to these issues. So who are the people who are here today? We appreciate everyone completing the survey. It's very helpful for us in terms of planning our year's worth of activities. We are really going to be relying on you to guide us on how we move forward and what we're going to do, and clearly we think that understanding what your needs are and being able to respond to what you need to move this forward within your school is going to be the most effective approach, and so we wanted to know whether you thought that this was important and clearly most people think that this is important, and that the majority of you are at a point where you're going to be adopting curriculum changes within the next six months. There are some people who are, goodness me, going to do it in less than 30 days, and there are a few people who have actually done this already, and so that's a good compliment because you are a group that would be working together and would be able to learn from each other's experiences, but you're all pretty much in the same boat, not any one group standing out above the others. Most people feel that there is our changes that they can make to their curriculum to make room for genetics and genomics, and part of what we're going to do today is to actually cover some of that, and from some of our faculty exemplars that we have brought in here to share their expertise with you. We were really interested in seeing what are the barriers, because those are the kinds of things that we're going to try to help address, and so clearly there are four things that stood out, and one is NCLEX. We are unlikely to influence that process. That is not a high enough priority, and we certainly appreciate that. There are a wide variety of priorities of what do we teach our students and how do we do that, and how do we balance what's really the most important, and we appreciate that, and so we're looking at strategies that can help you do this so that it's not so burdensome, and the curriculum is two-fold. We know that already, and that's why we've brought in people to guide some of this to assist you in how you could think about doing this a little differently, and that the faculty are not knowledgeable. We were not surprised by that, but it is a good validation of what we thought is that people don't feel they have a command of that material. This program today is not going to give you all of that information. Our intent is to set a platform of which to build over the next year, and to provide you with a framework of strategies that you can use to move this forward, and we know that none of us are genetic and genomic experts, and I'm always afraid if I go over and start talking to the scientists, I might get some science on my shoes, so, you know, we're going to be all working together to figure out, you know, what exactly is it that people need to know? We don't feel that you need to be genetic and genomic experts, but what exactly is it that you need to know to be able to effectively teach your students? We did ask you what was it that you had done so far, and informal chats and discussions seems to be the most predominant thing. There are a number of people who haven't done anything, and we're delighted actually with that because that's one of the strategies that we're really interested in giving you ideas and resources and materials and support throughout the year of things that you could do. So we're actually pleased that our application process worked and we got a good group of people that haven't done everything they needed to do. So what are the expectations? Gene Jenkins will cover all of that in detail, far more detail as we go throughout the day and towards the end of the day, but I'll just give you a framework of what we're really expecting from you over the next year. This is a year long commitment. We will have periods in which we will be doing some survey work and trying to keep them as short as possible, using the same online survey methodology to gain some information about what kinds of things we can best do to help you. We will have periodic conference calls. We will be relying on you to guide the frequency and structure of those. We will likely do some of that through an online technology where you can log in and be able to see documents or resources or anything that we decide to use those conference calls for. We will be asking you to submit brief quarterly reports of what kinds of things you've done. We want to be able to see whether this is effective. If it isn't effective, there's no reason to continue it. If it is something that's working and the schools have found it valuable and your colleagues have found it valuable and helpful, then it's something we would like to potentially obtain more funds to get. And then at the end, we will have another meeting like this, which will actually be less of us talking at you and more of you talking at us next year, September of 2010. And then we will sort of wrap up with another survey. The kinds of things we're looking at from you are things like really taking the time to evaluate your curriculum, to share your expertise with your colleagues at the table, and begin to interface with some of our faculty exemplars of people who have done this, some of whom are here. And in addition, we're working on setting up additional resources of people who you can engage with. We want you to share the things that you've done, share resources you have. By no means do we have all of the resources or answers here. We're expecting everyone to be able to contribute to this. And to also provide us with input about opportunities that we haven't considered of things that would be useful to you to move things forward. So where are all of you in terms of your knowledge? I certainly had a few emails from some people of expressing a little bit of concern about this. And I think we're where we all expected that people are either in the low to moderate category of how much they know about genetics and genomics. Some people are saying, well, not very much at all. And there are a few people saying they have quite a bit of knowledge. So I think the majority of people were they expected, not knowing everything, feeling they have a little bit of a handle, but not enough. And the only thing that I would challenge you to say is that, you know, I certainly, when I started in genetics, remembered through the cobwebs in my brain, something about Gregor Mendel and his peas. And but I would actually challenge you to think about the fact that you probably are either, a, no more than you think you do, or b, teaching more than you think you are. Because I've actually never met a nurse who doesn't understand sickle cell and recessive transmission. And that is genetics. You may not think of it as genetics when you're evaluating your curriculum. But in actual fact, it is, right? And so we want you to begin to think about what are things that you may be doing that are actually teaching some of this material that you may not actually appreciate? And what actually is it do you know? You probably know more than you think you do. And so we, you know, just like you to sort of think about that as you go through the day. So what are we going to do today? We are not going to be able to give you genetics 101 in one day. That's not possible. And that's not our intent. Our intent is to set a platform for work that we're going to continue throughout the year. We will give you an overview of some of what's going on in genetics and genomics that has clinical relevance. And the acting director of the National Human Genome Research Institute is doing that lecture for us, Dr. Guttmacher. And I think that's a testament to how important it is that the director of the genome institute would come and speak to this forum that how important it is for educators to translate this to their students and move this forward. We will be talking a little bit about the competencies which you all received a copy of with your syllabus when you checked in this morning. And if you haven't, there are more copies in the back with Eileen. And we'll talk a little bit about the baccalaureate essentials, which are some of the content that was integrated into that came from the competencies. We have wonderful experts who are going to talk to you about strategies to evaluate your curriculum and models for curriculum integration. What works for one school is not going to work for others. And to give you a flavor of that, we have people sitting at the table who graduate 10 entry-level nursing students per year and schools at the table that graduate more than 300 nursing students per year at the entry level. So we have... Hi, I'm Trish Brennan. I'm from San Romero Merit University, which is in Oakland, California, outside of San Francisco. And we have four campuses throughout the state. So we actually graduate quite a few entry-level nursing students. I'm new to the faculty and I had the opportunity to present a genetics lecture to the faculty in the spring. And again, everyone was very excited but had no idea how relevant it would be to any of their classes. So I, too, am looking for some strategies from the experts, the people that have done this before. But I'm also looking to help develop relationships with you because I think this year is going to be a trajectory where we'll learn from each other and hopefully be successful as a group. Hi, I'm Pat Henry. I'm from Indiana University South Bend. I need two things. I need buy-in from the faculty and I need more knowledge. And I'm hoping today to find out how much is enough. I mean, exactly how far do we need to go? But anyway, that's... I'm Luanne Martin. I'm from Lawrence, Kansas. I teach for Baker University School of Nursing. It's a small Methodist school in northeastern Kansas. And I teach pathophysiology. So I probably have the bulk right now of genetics in our curriculum. I know as it comes up and especially clinically that they address those issues. But we are in the middle of curriculum revision based on the new essentials and have a visit in 2010. So faculty are, yes, resistive, but no they have to. And so they're willing. But we need some direction and leadership. So that's why I'm here. Hello, my name is Mary Brakey. I'm from the University of Maine School of Nursing in Orano. And I would... I do teach some genetics in my oncology content. But it is not a major threat in the curriculum at this time. But as you said earlier that we do teach sickle cell. And so maybe we teach more than we really think. But we've had some major threats lately such pain management, terminal illness. And so this is one more thread. And I would need to know how to integrate it without making everyone all discouraged about doing it in a high workload. So some maybe moderate formulas for integrating the content would be good. I'm Mary Diaz. And I'm from the University of Texas, Span American. And I, in the faculty where I work, there is a lot of resistance to change period. So I believe that I need help with strategies and maybe a model that could be something that could be introduced. And so that I wouldn't have the resistance from the faculty that seems to exist. We're just kind of comfortable, you know, where we are. So that's difficult to get things changed. Good morning. I'm Tara O'Brien. I'm from the University of North Carolina at Charlotte. I need strategies and resources. I feel that our faculty that they're actually excited about me being here today and having the opportunity to learn about genetics and genomics. But they need me to be the resource for them to figure out how they can integrate this information into our curriculum. Hi, I'm Elizabeth Chismark. I go by Lisa. And I am new faculty at Clemson University. Clemson University has totally embraced genomics and genetics into their curriculum. And in the spring of 2011, this year's freshman catalog will be taking a mandatory healthcare genetics course. So I need help in how we're going to form that class. What is the best method best method for delivering that information within this class and textbook evaluation and how we're going to work that in. Good morning. I'm Kim Sebasic. I'm from the University of Scranton in Scranton, Pennsylvania. My, we're not anywhere in the world where you are. I'm here interested to learn about how to integrate curriculum changes. Possibly more of model suggestions where we can put in pieces of genetics or genomics. As previously mentioned, I'm sure it's happening, but I don't know that the awareness is associated with that. So I think that's my primary piece at this point. Good morning. I'm Diane Van A. I'm from Indiana University at Indianapolis Campus. And we consist of Indiana University, the quarter schools are Bloomington, Indianapolis and Columbus. So our challenge will be things that when we go to implement genetics and integrate it in the curriculum, we might be looked at from the other schools as well as how will we would be doing it and how will they do it. We will try to share some resources. There's been some talk of initially integrating it, but also then developing a separate course that I would develop, something that would maybe be leveled across degrees from one credit hour to more of a graduate. So trying to figure out the levels, what the generalist needs, what the master's preparedness needs, is something that hopefully we can you know figure out a little bit better too. So we have a lot of needs. I'm Jenny Malloy. I'm faculty undergrad in the undergraduate college of nursing at University of South Florida. And I was, I teach women's health. I'm lead faculty for women's health and so I'm the only one that lectures on genetics right now or thinks that they lecture on genetics and genomics. So I got invited to attend the National Functional Genomics Summit last year and I'm going to be going back again this year. It's in October in San Quay. And so therefore I became the expert in genetics genomics. I'm on the curriculum committee, so I wrote a curriculum. I did a concept map for how we can integrate genetics into our curriculum. Currently I believe that we're probably, in order to textbook, I have a need resources. I can't really find a nice nursing textbook. I found a medical textbook. What the textbook rep said was that's way too hard for your nursing students. That's for doctors. So I said well how about you let me look at it anyway and I think maybe we can, maybe we can work with that. So I need, we need textbooks. I need to get the faculty on board. We, we haven't, we, we as in, I'm the only one that's really talking about it but we don't have a, we haven't thought about doing a course. I know that's maybe one of the options but I think it's easier since most colleges of nursing are so content heavy anyway to thread it through the curriculum. So that's, that's what I'm working on. I've written an objective, an outcome space objective for all the courses so that we can meet the essentials. I'm Karen Witt and I am from George Washington University and we're in a perfect position right now to integrate genetics in our curriculum because our program is brand new because we just started our BSN program this fall. So I'm in the process of, of developing many of the courses that will be coming up and fortunately we didn't know about this meeting and, and so we, some of the information would have been applicable to our first courses that are being taught now but since then I've been trying to give some of the faculty information to put in their courses as we go along. I think what I need the most right now is resources to make the information applicable to the clinical setting and really practical for the faculty and the students to understand this material and how to apply it to their patient care and that's what I'm looking for in this and then I'd also want resources to be able to teach the faculty to be more knowledgeable in this area. I'm Barbara Owens, can you hear me? Works, okay. I'm from University of Texas, Health Science Center, is that better? Okay, I'm short, I'm down here and we are rolling out a new curriculum so likewise from the two people before me and I am on the the chair of the traditional track. We also have the accelerated track which I just found out as I was walking over here this morning they expect me there at nine o'clock tomorrow morning to tell them things. I don't even know what but I guess to share this so I'll try to get home at one and be there at nine. So anyway, we have used the ACN Essentials and Threaded Genomics through the curriculum but we definitely are, we are right in the phase of strategies and resources to apply so ditto from what both of those people thank you. I'm Chris Kurtz, I'm from Valparaiso University in Valparaiso, Indiana. We have minimal genetics and genomics content, every instructor I think is kind of doing their own thing. We've done none of those things in terms of talking about them having workshops, brown bag, lunch is nothing and I've heard some positive comments from faculty, oh I'm so excited you're doing this that'll be great, you know a great thing to add so I don't anticipate a ton of resistance but we really need knowledge. I think we just don't really know what is important to include and the best ways to do that. Hi, I'm Phyllis Moore from Bloomfield College, Bloomfield, New Jersey and I feel that we're almost in the same position that Chris is. I think that there's openness, willingness on the part of faculty and appreciation of the Essentials expectation and very little knowledge as to what needs to get into the curriculum. I think once we can get a handle on the what we can probably figure out the how but the what to me is somewhat of a mystery so we need clear outcomes that we will achieve within the program or the students will achieve within the program and then I think resources materials to help us integrate into the curriculum. Hi, I'm Kathleen Shedlock. I'm from Upstate Medical University in New York which is really in the middle of New York State but if you live in New York State anything north of the Tappan Zee is Upstate New York but I am relatively new to the faculty. I have some experience in genomics having been a medical liaison for Oncotype DX so I think that the faculty is you know very willing and understanding the importance of integrating this into the curriculum but I think what I need to bring back to them is a sense of what you know in terms of there's so much information so understanding what are the key things in terms of our curriculum and then how to do that I think that you know is it integrating it as threads or separate courses or both so that's I think what the faculty is you know really eager to have some guidance about. I'm going to be a bad person here and then I'm the timekeeper for the day so I need to move you just a little bit quicker so that we can get to Dr. Gutmacher and maybe we'll have the opportunity to have you guys talk a little bit more at the break perhaps. I'm sorry go ahead. I'm Wendy Blakely I am from Capitol University at Columbus uh Columbus Ohio and I'm new this year so I'm on the steep end of the learning curve there just learning what the faculty resources and expertise is there but I get the sense that they are certainly accepting of the fact that it's an important thing to include in the curriculum and they're fine with me teaching it that's kind of one of the reasons I that they probably hired me but I think there's more anxiety if they have to teach it so kind of helping other faculty they have to integrate it into their course courses and also if what if it takes away from what they're currently teaching I think that's probably also anxiety so knowing it's essentially what we do need to include and what's most important and increasing faculty comfort level. I'm Barbara White I'm the Dean for Nursing at Colorado Christian University and we don't have a program yet I don't have students I don't have faculty we are going through the state board approval process we've designed our curriculum with our health care partners and of course their emphasis is cues and data from day one and so our new curriculum will have that as a thread we do plan to have a course in genetics in genomics for pre-nursing students and then to integrate it so I need resources and hopefully I'll be able to be a champion for the faculty that I don't have yet. Thank you. My name's Cary Merkel I'm with the University of Arizona in Tucson and I am most interested in strategies to integrate genetics into a program that is just jam packed with content. Hi I'm sister Kathy Burton I'm from Montmarty College in Yankton, South Dakota and that is exactly what I was going to say just strategies our curriculum just seems so busy already so how can we integrate this in I'm kind of streamlined it so. Hi I'm Kathy McGuinn I'm director of special projects at the American Association of the Colleges of Nursing so one of my very special projects was working on the baccalaureate essentials so I'm delighted to be here with you this morning and learn all about what you're going to do. We recognize that there's a real urgent need for faculty development related to this area and I had the pleasure of working with Kathy and Jean for about four years now so we've had a good time trying to get to this point and we're looking forward to today. Thank you wonderful well welcome again to the National Institutes of Health and we hope that this will be a productive year so I'll just make a couple comments for webinar participants because we'll get going with our program and that is that we will be prioritizing questions from the audience from our faculty champions in the room but we will accept questions from webinar participants the chat box will be on the corner of your screen and you just need to type in your question and then if time allows we will be able to give it to our speaker. So our first speaker is Dr. Ellen Gutmacher and we are delighted with his busy schedule that he could find the time to come and speak to you. He is received his AB degree from Harvard College and his MD from Harvard Medical School. Dr. Gutmacher was the director of the Vermont Regional Genetic Center at the University of Vermont where he started their cancer genetics familial cancer program their newborn screening program and worked with their intensive care unit and an NIH supported initiative and their first statewide initiative on the ethical legal and social implications of genetics and genomics. Dr. Gutmacher is joined the NIH here and worked with the National Human Genome Research Institute initially as the senior clinical advisor to the director and currently is the acting director of the National Human Genome Research Institute and so we are delighted that he was able to join us today. Thanks very much it's a real pleasure to be here with you and I'd like I guess on behalf of the National Human Genome Research Institute to welcome you to NIH. We're so happy you're doing this this year essentially what my talks I think really going to be about in some ways is we did the easy stuff that is sequencing the human genome you've got the hard work in front of you which is changing curricula which is obviously much much more difficult to do and much more complex etc etc it was very interesting to hear the short intros around the table what you want to get out of here what you some of the challenges you face and I don't think they're surprising. Maverick I was a little surprised by some of you that seem to think that you have some you know some folks out there who are glad you're here and looking forward to this etc because any kind of change of curriculum is difficult I think this kind of change is particularly daunting because I think maybe in recent years we've entered an era where people can get the idea well yeah this genetics genomic stuff somehow it's important which is different from a few years ago when people just sort of said go away why are you bothering us but most people still don't realize well why is it important how might actually use this in day-to-day health care and I'm going to try to give you a little bit of a window into is what are some of the cutting-edge research things are going on in genetics and genomics but particularly what might that look like in terms of health care where are we going to this why is it important how might we actually use it in a way to change the way we interact with patients so I'm going to contrast I'm going to create a little bit of an artificial construct but I think an important sort of teaching one the difference between what I'm going to call genetic health care and genomic health care because I'm going to use the term genetics pretty consistently I hope as opposed to genomics I'm going to use genetics to refer to single genes and what they do so I'm a medical geneticist by training as well as a pediatrician so basically what I did for many years in terms of seeing patients was to see people with single gene disorders so-called Mendelian disorders of whom there are many since you know this is the NIH supposed to be Ariadite and quote the literature to you I did bring you something from the literature this is from my years when I was a clinician in Vermont you'll see it from my favorite journal the weekly world news creature captured live in Vermont bat with the human face he's smart as a whip says stunned scientists this is the way many people think about genetics and health care that genetics refers usually to the child with the the undiagnosed kind of combination of funny physical findings and you refer that kid to someone like me the medical geneticist sort of Sherlock Holmes with the stethoscope and we see the child we do of course a family history as well as a history of physical etc and then send the child back to their primary care provider with some kind of a triple epon on this whatever it is eponym name and tell them about the four other cases in the world's literature and that's been kind of the use of genetics and health care to a lot of people now of course for families and individuals who have a single gene disorder the genetic nature of their health is incredibly important but there aren't that many kids and families out there genomic health care is very different and that's why it becomes so important to get it into curricula because genomic health care refers to our entire human genome all of those genes we have all those 20,000 21,000 genes we all have how they interact together and very importantly how they interact with non-genetic factors and environmental factors to basically create health and disease it's much more complex but it gets to the care of patients every day because genomic health care tells us things for instance about these disorders these are the 10 leading causes of death in the U.S. for 2004 every year it's pretty much the same number 10 sometimes changes but but it's pretty much the same and what I would say is in common for all of these is that for years we've known gee genetics plays some kind of a role if you have a family history you have an increased risk of developing the disorder yourself but that was about all we were able to say in recent years though that has changed dramatically we're an era where we're going from being able to say just well gee if there's a family history of this be concerned to actually being beginning to identify the specific genetic factor that's responsible for that increased risk and based upon that make interventions it's actually going to change the health and well-being of our patients the one on that list that gets a question mark rather than just being listed is injury because many people would say well gee what does genetics have with injury injury is a kind of fluke thing etc of course injury is not a fluke thing at all it doesn't deserve a question mark though many people would say gee that can't be genetic I would argue that every disease injury etc we know genetics plays a role just a role it doesn't predict completely what's going to happen but it plays a role even with injury in fact there's a genetic factor that's been identified a long time ago and some of you seen me use this slide before and make this point this may be the first time just about that I've made this point to this kind of room because usually what I say is in fact there's been a genetic fact that has been identified a long time ago that on curfew physical examination you can with a fair degree of certainty in most populations make the diagnosis of whether somebody has this genetic variant which if they have it places them at a much greater risk for developing injury and in fact dying from it that genetic factor I usually say well I'm going to tell several of you in the room just looking around the room that you have this variant and I'm going to do that without a proper informed consent etc and that genetic variant of course is something known as the Y chromosome in this room I would appear to be the only one who is at increased risk for dying of injury because if you have the Y chromosome as my wife says it does nothing much help before you but it does make you a male in doing that it makes you at much higher risk for dying of injury not perhaps that social cultural though I'd ask you to tell me about some culture where this is not the truth so it gets only a question mark but there are other biological factors having nothing with the X or Y chromosome that people are beginning to show actually do increase one's risk of developing injury and even dying from the things that may have something to do with so-called thrill seeking behaviors and other kinds of things can have to do with injury again that may have nothing with one's gender but the other point that talking about injury I think makes which is an important one we usually think about genetic factors as risk factors for developing a disease and they play a huge role there depends upon the disease how large but they play a role but they also play a very important role in how we react to the disease or the injury once we develop it in fact even for injury if you get a couple of different people with the same injury the question of who goes on to develop ARDS and needs to be becomes respirator dependent for instance versus somebody else who seems to skate through pretty much unscathed by the same injury well there are lots of things that can affect that underlying medical status all kinds of things but one of them and again there's more and more data about this that one of the things that can affect is in fact your individual genetic make-up how you respond to whether it's injury or the drugs we use to treat diseases whatever genetics has a lot to do with disease response as well as disease causation genomic health care of course is built on this foundation of the human genome project since I come from the NHGRI I have to use this slide it's in my contract I have to brag about the fact the human genome project was your typical international governmental project that ended ahead of schedule and under budget which may just show that we report planning things but we take a lot of pride in those two facts and that also interestingly from the early days of the genome project earmarked three to five percent of its funding it's been five percent for many years looking at the so-called LC issues the ethical, legal and social implications of genomics that's been very important to I think both the basic research but also very clearly important to its health care applications our institute continues to devote five percent of all of our funding to look at these kinds of things the human genome project did some other things produced the human genome sequence that's what it gets most attention for of course it spawned this new field of genomics it spurred new technologies and I think importantly now gives us some new tools to be able to use in health care it also just in terms of research made some important points it showed that you could have sort of large sort of top-down managed science no biological sciences and that could still be worthwhile there was a history of that in physics and some other areas of science but in the biomedical sciences there wasn't much of a history matter of fact there really wasn't any of saying big projects were important it was all about hypothesis driven science there's no hypothesis to the human genome project unless the hypothesis was we hypothesize that we can sequence the human genome most people in fact out of that we would be able to do that but I think we've established that while still much biological research needs to be hypothesis driven sometimes projects that develop resources that can empower hypothesis driven resource projects are very important the other thing which the genome project did and I think if people look back a hundred or 200 years from now what was the contribution of the genome project this is going to be its largest contribution it's not going to be that we sequence the human genome eventually that would have been done anyway it would have taken a lot longer it would have been much more disjointed but it would have happened eventually the big thing I think we helped do was a cardinal principle the genome project was that every 24 hours all of the data it was generating was put up on a computer server anybody else who had a computer and paid their electrical bill could download that data every 24 hours and that continues to be a fundamental aspect I think of the field of genomics the idea that data does not belong to the principal investigator it belongs to society particularly data that's generated based on federal funding belongs to society and while we need to come up with good ways to recognize the contributions of the principal investigators the researchers who develop the data in fact it doesn't exist for their use it exists for society use and the more people we can get to see the data and use it as quickly as possible the quicker science will advance and therefore health will so it's interesting just the contextual kind of things some of the things that we'll be talking about today and you all will be dealing with over the next year we'll seem kind of space-agey to some people they'll say oh yeah it's never going to get here etc it's an interesting contextual thing to realize that it was only 50 years the lifetime of some of us in this room that we went from the first description of the double helix of DNA in 1953 to the complete sequencing of the human genome in 2003 and if there's anything we know about science healthcare etc it is that each year they move more quickly than the year before so some of the things that we'll talk about that might sound like the kind of futuristic well they may be a little futuristic but they're clearly going to be around in the lives of many of the folks in this room and clearly of the younger patients we take care of they will be I think that what's happened with genetic and genomic technologies is the same thing that's happened with any kind of new technology going all the way back to railroads the invention of the telegraph other kinds of things people have tended to weigh overestimate the immediate impact and expect well gee you sequenced the human genome April the 14th 2003 why wasn't everybody healthier on April the 15th 2003 so really overestimated what's going to happen immediately but have underestimated as is traditionally the case the middle and long-term impact of these things it really do change the way you say anything about computers etc this is a semantic point but I think an important one you'll hear people talk about we are in the post-genome era if there's anything we know about genome eras it is that we were in the pre-genome era until April the 14th 2003 when it was announced that the genome had been sequenced so for now in the post-genome era that would argue that the genome era itself was essentially April the 14th 2003 if you weren't paying attention that day you were too busy or something you missed an complete era apparently in the history of humanity you did not we are just now at the beginning of the genome era and the students that you teach they will in some ways be the first generation to really figure out these tools to apply them to healthcare etc so one of the pictures I'm going to make to you is and it's probably true of any kind of learning you need to give obviously the students who work with a framework some basic concepts but you basically need to engage them to really want to be lifelong learners if there's any area in healthcare that that's going to be necessary this is it because I really do A believe it's going to revolutionize healthcare but think B we don't know that much yet we know some of the basics we know some of the framework but if we go much beyond that we're going to teach things that are going to be outmoded very quickly so I think most of what you need to do is to teach again some basic essentials and the framework and some real appreciation of how folks will use this in their careers we faced a sort of a challenge as an institute we were founded basically to lead the federal effort in sequencing the human genome so as the sequencing came near to an end we sort of had to think about well gee what's next what are you going to do next which caused us some people said what you should do is you should be the first federal bureaucracy that said you were founded to do something you did it so just have a big party go home and you know that's it so we had a big party we decided not to go home because we realized it was the beginning of the genome we were in and now it gets pretty exciting so now what we're starting thinking about is let's understand the way that the genome plays a role in all of these diseases and lots of other ones as well well so we thought about doing that the sort of frightening part of that was to look at this graph and this was done in 2002 the same time that we were coming to the end of the genome project and the good news in this graph is if you look at the pink line because you get to use the numbers over here you can see that these are so-called human-men dealing traits basically single gene disorders things like sickle cell disease cystic fibrosis etc and it looks pretty good we there by 2002 there were about 1700 such disorders for which the gene involved had been identified so that seemed pretty good well it's not so good when you realize there are five or six thousand of those disorders so in fact even there we hadn't found the genes involved in most of them but what was really depressing because if you think back on that slide about the leading causes of mortality the same thing if you did morbidity in the United States or worldwide they're not single gene disorders they're so-called common complex disorders where genes play a role but multiple genes are involved lots of environmental factors for those unfortunately we have to use a scale over here in the blue so for those we had only 30 and of course there are scores of such disorders there were only 30 for which we knew the genes involved and it gets even worse than that because that is in all different species in any species so that includes mice, rats, apes whatever you might look at for humans it was down here in single figures so despite the fact that there were scores of common disorders that affect patients and us we weren't doing very well the reason was that people were using a so-called candidate gene approach we would try to guess I think maybe this gene is involved in this disease let's see whether there are variants of this gene and people who have the disease versus those who don't well the human genome is much more complex in our ability to figure it out so we weren't getting very far we thought well let's use an agnostic approach what about if we looked across the whole genome if you took a thousand people with the disease and a thousand without the disease and see where does the genome vary between those with the disease and those without we focus on that part of the genome that varied and there we find the genes involved seemed like a reasonable idea so we took a piece of paper out an envelope actually just the back of an envelope in 2002 just as the genome was coming the genome sequence was coming to a close we said well you know we can take these thousand cases thousand controls the NIH has been great at collecting those cases and lots of things like the Framingham heart study and stuff for decades so those are out there already but you know what we could do is if we looked at the whole genome well we could sequence their entire genome but back in 2002 it caused some place around maybe two billion dollars to sequence a genome so that wouldn't make sense do that two thousand times but we thought well there are these things called single nucleotide polymorphisms places in the genome where there tend to be variation there are about 10 million of those across the human genome places where there's a variation in whether you have an A, a C, a T or a G in your DNA at that specific site so we could just look at those maybe to as a sort of map of the genome contrast those so if we took those 10 million common snips thousand cases thousand controls genotype the DNA at all those snips that is figure out whether it's an A, C, T or G there that adds up to doing 20 billion genotypes in 2002 it caused 50 cents for one place in the genome to figure out whether somebody had an A, C, a T or a G so if you do the math it's 10 billion dollars to do that study for one disease the NIH budget in those days was I don't know some like 24 billion dollars it was going to be pretty difficult for us to go to all the other institutes at the NIH and say why don't you give us about half of your budget for this year we'll do this study and there's maybe I don't know five percent chance that what happened to do with a disease it's actually of interest to your institute so we thought well that's not going to win friends and influence people so we put the envelope back in the desk and we didn't forget about it but we didn't tell anybody about our kind of strange thinking but then something nice happened called the International HapMap Project this was a large project that again the National Human Genome Research Institute led which was an international effort to look at really variation in the genome and it told us lots of things about variation in the genome one of the things that told us about variation in the genome is that it made very clear what I'm fond of saying all of us who live in Washington DC already knew which is that we have not evolved very far as a species that we're a very young species and because we're so young and haven't evolved very far we tend to inherit our genome in large chunks so it turns out that among those 10 million SNPs there are some of them that if you can tell me for sure if somebody's got an A there rather than the usual T I can tell you with pretty good accuracy maybe for a thousand base pairs on either side of that A exactly their complete genome sequence for that block so that's a nice shortcut that we got through the HAPMAP project that allows us to say then instead of doing those 10 million SNPs we could just look at about 500,000 of them for some studies a little bit more for some a little bit less we could do again do these thousand cases thousand controls the same kind of thing but now instead of having to 20 billion genotypes you only have to do 1 billion so we just knocked our price down to only 5% of what it was before but the other nice thing that happened because of new technology driven partly by that HAPMAP project the price of doing a genotype in that five years as I'm fond some people heard me say this yesterday I apologize for saying it to you again it's the only thing the only expense or money related thing that's dropped more quickly this decade than your IRA the price of this went from 50 cents in five years to a 12th of a penny and it's continued to go down since I've stopped making remaking this slide after I had to keep knocking this down and down and down so by 2007 the price of doing this so-called genome-wide association study looking across the whole genome had gone from 10 billion dollars to 800,000 dollars still not something you're going to do out of your pretzel money or something but something for the NIH which by that point had a budget maybe 27 billion dollars you could go to institutes and say do you want to find the genes involved in atherosclerosis do you want to find the genes involved in autism do you want to find the genes name your common disease well that seemed to be a pretty wise investment to a lot of institutes and what happened this is the first of the so-called genome-wide association studies or GWAS as we call them that came out in 2005 actually even before the the HAPMAP was finished but using the HAPMAP the international HAPMAP we called the HAPMAP for short using HAPMAP data it's a group that looked at age-related macular degeneration which is the first or second leading cause of severe vision loss in the U.S. and having done that they found eventually three different genes that in fact are very much involved in the causation of AMD now AMD is a disease and nobody thought it was particularly genetic before that that is family history well we knew it raised your risk but most people nobody said well it's a genetic disorder but clearly genes play a large role because together actually using the three most common genes it's over 50% of the attributable risk of the disorder is due to the variants in those genes common variants amongst the population now a lot of people say well that's great but these genome-wide association studies allow you to look for people with these common variants and tell them that they have an increased risk for developing this disorder very powerful part of healthcare in particular in terms of prevention and that kind of thing early diagnosis what's even more powerful and this is the thing about genetics and genomics a lot of people I think don't appreciate fully and that is that this tells us something about the underlying biology of the disease almost nobody thought that amd was an inflammatory process but all three of these genes are involved in inflammatory pathways so this is a huge hint that this is at its root at least partly an inflammatory process and in fact what you might try to do to treat amd is use something called anti-inflammatory so we certainly got a bunch of those around you could even think about maybe prevention if somebody has variations in these genes that puts them at a much increased risk for developing amd the first thing you should do is tell them not to smoke because in fact smoking is far and away the largest environmental factor in amd but the second thing you could begin to think about g maybe if we started anti-inflammatories before you develop the disease it would prevent it or at least put off when you would develop it and there are now some trials ongoing to see if that approach might be helpful this is you know should I be using a microphone particularly for those in the webinar is are you hearing me okay okay so this is a map of all of our chromosomes here and this is showing the first finding in 2005 for amd but things progress pretty quickly from there so this is 2006 we added a few more first quarter of 2007 by the middle of 2007 genome wide association studies had found on various chromosomes these things and all kinds that's pretty small down here but all kinds of different disease its colors coded were showing up on different chromosomes different genes being involved by the third quarter by the end of 2007 we were beginning to find genes involved in lots of different disorders here we go through 2008 so by the end of 2008 by the end of 2008 we had to change the slide we were showing this on we used to have a different one which is even more visually appealing but we ran out of room on the slide so we couldn't use that anymore this is the first quarter of this year and this is where we stood as of a couple of months ago so from 2005 when we had one to the middle of 2009 we now have 439 well actually by now we have over 450 published genome wide association studies with p values less than five times 10 to the minus eighth pretty good p values so these are things we believe are real so we now have 439 genes some of them repeat so it's maybe not 439 genes but 439s that various times that various genes have been implicated in what we think is a believable way as being involved in one or more of these specific dozens of diseases listed down at the bottom of the slide so now if you go back to that slide we had before you'd have to put this huge sudden increase to sort of exponential growth now instead of being down here in single figures we're up in triple figures it's actually well up there now in terms of the number of diseases for which we know genes that are involved common diseases huge change now has that meant anything different in healthcare of patients for a few patients actually it already has but it's only a few 10 years from now it's going to have huge impact so what else is going on in genomics a small sampling of things this is the journal Nature had every December at the end of its year issues as you know sort of spotlights what does it think the big advances in science were that year well interestingly and this is not just about biological sciences this is about you know sciences in general etc etc etc they talked about personal genomics going mainstream as being the major event of 2008 and they cite various kinds of things that includes these kinds of things if you don't want to read nature and you read Time Magazine instead what was their number one invention of 2008 the retail DNA test as some of you know there is now direct to consumer testing you can there are various purveyors of this Navigenics 23andMe and others for about 399 dollars they will if you send in a cheek swab they will analyze that for basically you get a report back of a lot of these single nucleotide polymorphisms variants and they were purported to tell you various things about your health status it's a long long discussion about how worthwhile the information you get actually is but you'll get a fair bit of information my favorite of these services is this one dating DNA whereby if you swab inside your cheek and send it off they promise to tell you who would be a good mate for you I haven't checked this site out recently both because the NIH blocks one from going to this site and that's so that means I can't do it from work and at home my wife won't let me so between the two I have no access to this site I can't tell you whether it's still up there or not this clearly moves in the area of beyond anything that has any scientific basis but it's a what if you want to sell snake oil in the wild west of this century as opposed to the last go into DNA I would definitely advise you to do that now part of your job and part of your students job is going to be to help patients distinguish from the snake oil from the testing that actually will be incredibly value potentially life-saving for them that's an important mission so if you don't like time if you don't like nature science magazine which again deals with all kinds of different parts of science and stuff where it's top breakthroughs for 2008 well genomics didn't do as well as it did in 2007 when genome-wide association studies were the cover story for this issue of science but in 2008 we still got two out of the top 10 number 10 was sequencing benanza that is improvements in sequencing technology to be able to sequence genomes and I'll talk about that and then the other one was cancer genetics cancer genomics understanding the genes involved in cancer and I'll say something about that which was number three on their hit parade there's been a project that we in the last couple of years both our institute and the national cancer institute here at the NIH have co-led co-funded called the cancer genome atlas and originally it was a pilot project to look at three different types of tumor and to really be able to figure out what are the genetic changes in cancer I mean cancer of all the diseases we deal with is in some ways the most quote unquote genetic because every cancer of course every individual cancer is the genetic apparatus of a cell somehow gone awry well let's catalog the variations that are responsible for cancer because then we'll be able to attack cancer in a much more effective fashion the first publication that came out of this what we call TCGA the cancer genome atlas it's not quite an accident the initials are the same as the four initials were geneticists and genomes to pretty nerdy bunch so we took this as like a great thing to come up with these four initials you know that were the four bases of the of the human genome TCGNA I think that was Francis Collins contribution to TCGA was late at night Francis does things like this came up with that name anyway the first publication was about genes involved in glioblastoma multiforme which many of you will know of course is a common and to this day devastating brain cancer is the one that Senator Kennedy recently died from and this tells us something about the basic biology of glioblastoma we've never known before is already beginning in some centers to change in some ways the people provide glioblastoma care and this is something that was just published a year ago this has gone from a pilot of just looking at three cancers has just been recently announced so I hope it's been announced I think it's been announced if not I'm announcing it now that it's going from a pilot trying to think if we I don't know what you're anyway well I am announcing it now if I that it's going from a pilot to looking at 20 to 25 tumors over the next few years and what we'll be doing is sequencing both the cancer and normal tissue from a couple of hundred people with each of those 20 to 25 cancers to really get a good catalog about what are the common and what are their rare variants in the cancer A cancer B cancer C etc and eventually we would hope to get to all human cancers thank you so what else is going on in terms of technology this thing about the thousand dollar genome we've been talking about this for years you'll remember I said well just a few years ago it cost maybe two billion dollars to sequence a genome by 2014 probably sooner than that we think now it'll cost a thousand dollars to sequence a genome if you can sequence someone's genome for a thousand dollars and since the genome besides for cancers is pretty static it doesn't change during someone's lifetime is it'll be a simple thing in healthcare to sequence everyone's genome have that as part of by then who knows maybe we'll have electronic health records it'll be part of their electronic health record and available as we then understand what all the variants mean it'll be just there easily to pull up when you think about does somebody have this diagnosis from another diagnosis well let's look what their variants are because if that makes them more likely to have A and B maybe we should think much more likely of A as their diagnosis in terms of picking out what drugs we'd use to treat it et cetera because the cost of sequencing keeps going down this is Moore's law that everyone brags about in computers it's a logarithmic scale here keeps going down well the cost of sequencing genomes is going down it's way faster than Moore's law it's one today it's one fourteen thousandth of what it was ten years ago when we think their price is going to continue to go down so that gives us a chance to think a little bit about genomic healthcare unfortunately I've used up most of my time to talk about the other things but let me quickly just run through this so how is the genomics we're going to change healthcare where the first thing is we talked about with AMD the idea of changing our basic understanding of the biology of diseases and of health and to talk more and more about defining disease not by its symptoms but by its causation which makes it much easier if I say everybody who wheezes has asthma and I try to treat them all the same way it's going to fail a lot of times because these are very different diseases asthma just means that you're wheezing that's the end stage of it it's not the disease it's the symptom that we're labeling if you think instead about what's the biology that caused the disease it makes it much more effective to treat it and certainly preventing it's hard to prevent a symptom you need to prevent the disease and it's going to do other kinds of things the idea of once we know about what someone's genetic predilections for disease or we might change screening for them for instance how often should someone have colonoscopy what age should that start what depends who they are biologically one size well it's a bad figure of speech for that one size does not fit all for colonoscopy you need to really think about it what age who should have it the same thing for mammography and other kinds of screening that are very effective today but could be much more effective where they targeted more specifically to individuals the idea of dealing with people's lifestyles in a very individualized way sure nobody should smoke but that's even more important for some people than others specific parts of diet will be more important some people it doesn't matter how much cream they they have and you don't never get atherosclerotic other people that's incredibly important to avoid cream in their diet for instance the idea of using pre-symptomatic medical therapies for you know we talked about AMD somebody who's not even symptomatic yet if you have enough of a biological likelihood of developing disease treated before it even starts maybe treated with new drugs that are aimed simply at that one genetic lich that they have one way or the other to prevent that from really demonstrating itself this gets a whole idea of pharmacogenomics coming up with new drugs et cetera it's interesting if you look at the human genome these 20 little bit over 20,000 genes that we have if you look at all the genes that we have and all the proteins they make if you took all the drugs we know today over the counter under the counter street corner drugs any drug you want to talk about in the world what percentage of the genome do you think we have drugs targeted against do you think we have a drug targeted at all of the genes and the proteins they make or just three quarters of them or whatever so here's your first the quiz of the course or whatever think about that come up with an answer it's 2.5 percent only 500 of our 20,000 genes now it may be that a large part of our genome is quote unquote not a drugable that there will never come up with good drugs to target them but even you will say well yeah let's guess that's half of the genome that's not drugable that would still mean that we've only occupied five percent of the biological space that we might occupy with drugs so the idea of coming up with completely new drugs that's our whole area called chemical genomics that's doing that this is a publication from 2008 in which chemical genomics this idea of looking at large collections like hundreds of thousands of small molecules and being able to interrogate over a day or two these candidates basically against specific diseases was used for schistosomiasis to be able to come with some new lead compounds or schistosomiasis which I can tell you in animal testing are quite promising and again genomics was the key to doing that we're starting now at the NIH something called the Therapeutics for Rare Neglected Disease Program Congress has given us an extra 24 million dollars this year to start a program to use those kinds of techniques to come up with new drugs particularly for rare diseases and neglected diseases that means basically diseases which are rare enough or strike people who are poor enough that traditional pharmaceutical companies have not been interested in doing all of the upfront development so we're going to try to use upfront biological development through NIH centers etc and then be able to hand them off to drug companies that can then go through the production phase etc long story but an important project you'll hear more about oh this is to advertise I had to take Francis's name off of this because once you got a point of the NIH director it became a conflict of interest for him to be involved but I and another guy who works at the National Human Genome Research Institute are going to be doing editing a series of articles that are going to appear the New England Journal starting in January I believe January February of next year there will be 13 to 15 articles about gee how can you actually use genomics in health care today not what does it mean 15 years from now but how might you use it today you might find that of help already though those of you who don't know this I think I'm allowed to advertise that volume since I have no financial or other stake in it and didn't even write it some of the people here did but it's a very useful resource again that's particularly some of you were saying needing resources particularly aimed at nursing well there's one for you in terms of thinking about roles for nurses in the genome era you'll be able to do a much better job of this than I can particularly after a year you will be you should be thinking about these kinds of things because there are multiple roles for nurses here and I would argue and I suspect you would agree and maybe even argue more forcefully than I would that there's some of these that nurses are particularly as a profession if you can throw one you know blanket thing over a whole profession are particularly well positioned to do a lot of this plays along with some of the principles some of the ethos some of the teaching focuses of nursing in terms of being patient advocates of speaking for patients of educating patients besides lots and lots of research we need to understand how to use this stuff within health care systems so it's just another very long lecture if we're ever going to use it well that needs to be thought up by people who are actually taking care of patients so let me close by giving you what might sound like a hypothetical story but I think it's pretty reasonable actually it's the story of Betty who completes something called the Surgeon General's Family History Tool is that something they'll hear about at some point or it's a web-based it's a web-based resource for people collecting family history information that we think is pretty nice pretty easy to use for lay people that patients can actually enter their own information organized or anyway so Betty completes this thing at the age of 18 she learns that she had three uncles who died of early heart disease she consults her health care team who say well gee by 2019 we can sequence your genome for probably by then for maybe a few hundred dollars so let's do that she says yeah but what about genetic discrimination if I found out these variations might I lose my job or have health insurers discriminate against me say no don't worry about that this federal legislation that protects you against that by 2019 very fully we have partial protection already so that happens Betty's found to have five genetic variants that well-validated studies have conclusively shown increase for risk of early heart attack by three fold working with her health care team she designs a program of prevention that's based on diet exercise and some specific medication that's targeted to her genetic makeup she does well until the age of 75 when she develops some left arm pain she assumes is due to a gardening she's a very active gardener at 75 because of her good health but her primary care provider knowing about her genome sequence and this family history of these three dead uncles says aha pretty typical presentation of a woman with an MI and so correctly diagnosis that she's having acute MI looks at her genome sequence figures out exactly which drugs will she metabolize in a way that will be most effective and she does find is surviving well into the 22nd century so that's what your students will be doing if you go back and do a good job of teaching them if you don't here's what happens to Betty okay so Betty never even hears about the Surgeon General's family history initiative her primary care team is way too busy filling out insurance forms to ever ask about her family history so nobody knows about these dead uncles they're still just as dead but nobody knows about it Betty's offered genome sequencing but her brother's lost his long-term care insurance because it turns out there's no good comprehensive legislation to prevent that so she says and this is not worth why should I don't have any particular family history I'm not going to bother with this I could lose my long-term care insurance or something so she eats a typically unhealthy diet she gains weight she develops hypertension while tests predict which drug would be most effective for her hypertension had been proposed they've never been done because people never got interested in that kind of research so they're not reimbursed and since they're not reimbursed nobody's using those so instead Betty uses another drug for hypertension she develops a hypersensitive reaction and she quickly and wisely stops her treatment so after 10 years of uncontrolled hypertension this Betty develops her left arm pan at age 45 not 75 her primary care team unaware of her high risk because they don't know about the dead uncles they don't have her genome sequence and so on assume it's musculoskeletal and prescribe bed rest so she gets her bed rest and returns to ER the next morning in a cardiogenic shock the absence of a genome sequence prevents anybody from really coming up with a particularly optimal therapy for her so she dies in the emergency room so Betty is in your hands if you do good work this year Betty will live well into well past 100 and be forever grateful to you if not she's dead in the ER at the age of 45 so that's the future and we welcome you're helping us navigate the future and I'd like to come back to someone who said something I think earlier about the partnership that's going to be formed around this table and with a lot of the people and the periphery of the table as well and that's what this is really about I think the real promise of what you're doing is a longitudinal nature of it and we really are for looking for developing relationships among the people here among the institutions too the NHRI clearly is very interested you know our mandate is to do things with genomics that includes applying it to health care lots of other institutes at NIH certainly NCI but lots of other institutes are very interested in that as well so we look forward to ways that we can partner together to do that so I didn't go over too much but I did some do we have time for questions or do we need to hook me off the stage okay okay in that case I won't leave it you're welcome sir our next speaker we're really delighted that Dr. Julie Eger was able to join us from Clemson University she received her BSN from the University of Kansas her MN from Wichita State University a PhD in microbiology from Clemson University and a post master certificate as a GNT also from Clemson University Dr. Egerd has previously taught at a number of universities including Texas Women's University Tulsa University Loretta Heights College Denver Colorado University of Utah and currently she's an associate professor and healthcare genetics doctoral program coordinator at Clemson University quite a mouthful but there's really no one that we could think of who's better able to speak to you know what do you really need to know about basic genetics and genomics as a faculty member so thank you Kathy I appreciate that introduction I tell everyone I'm nationally known because I've lived everywhere and worked everywhere I it is a pleasure and an honor to be invited to talk today and I guess the other issue that I was concerned about is I have 45 minutes to talk about what we need to know about genetics and genomics and I thought oh my goodness let's see a spell no so this is going to be just simply what do nursing faculty really need to know and so this is my interpretation so the first thing I want to say is the slides are really adapted from the cancer genomics PowerPoint presentation that is on the NCI website now I did that not because I was lazy but because I thought you know those are excellent slides and they're also available to all of us for free and they really are a good option for teaching our students and so that was another reason my objectives identify basic genetic and genomic concepts for what nursing faculty really need to know describe basic pharmacogenetic genomic concepts for what nursing faculty really need to know and then finally suggest application of basic concepts in classroom and clinical settings based on the AACN essentials of baccalaureate education for clinical practice and listening to you all earlier this morning I am going to add a few things as I talk but still try and meet my 45 minute deadline so I'll be looking at gene for the high sign and red flag okay so first of all it is important to be able and share with our students exactly what is the human genome and we know they're all going to know we know what that is but I think that it's important that we review with them very simply just talking about the human cell what the basics are in the cell what the responsibilities of different organelles are that the chromosomes are in the nucleus how many chromosomes there are etc and then again to reinforce that the organelles are in the cytoplasm another basic concept one that we all know DNA is thymine adenine guining cytosine making certain that we talk about purines and pyrimidines and how they line up together so that they can indeed form that double helix the basic concept of the central dogma and that is so important so that students recognize remember understand that we start with DNA move to mRNA that from the mRNA we're going to have triplets and the codons which give us the message for amino acids which are going to give us the proteins that are so important and give us direction for everything that's going to happen in the body and so when we think about that a little later I'll give us guidelines for exactly why we need to know that information and then the karyotype specifically here again we have the 22 autosomes and the 23rd chromosomes which are the sex chromosomes we know and I always like to share this with the students because they always seem to think they don't know this information that we know the chromosome has a short arm and a long arm and that the centromere is in the middle so we know the short arm is called the p chromosome and the reason for that probably many of us remember in this room is because it's petite and I thought wow they were so smart to use p for petite and obviously it's a French word so what does q stand for well what is the q name for long in the French language well it turns out it's not for anything it's because q follows p so I think again things like that also help our students remember and as we talk about mitosis and meiosis later we'll reinforce that so what are the implications for this information some might be from the essential nine now one thing I want to point out is that a lot of things that I'm saying are from the essentials seven and nine but in my opinion probably lots of this information could go into all of it my task was to talk about basic concepts but you think about societal implications ethical implications communication there's so much there that is not what I'm saying or talking about but it does have applications so communicate effectively we need to be able to communicate with our professional colleagues and so it's important that we help the students understand what is the chromosomal GPS for disorders that we talk about in class or that we find in the clinical setting so one example everyone knows is the BRCA one gene we know that it's on the 17 17th chromosome it's on the Q arm so that's the long arm at position 21 and so it helps again the students be able to start talking about and communicating what does all this mean the other point as it moves out from the chromosome excuse me centromere so you can see that the numbers get larger the further away from the centromere so then what are the keepers of the code again this is an NCI slide it's really pretty colorful it talks about the go part which is at the promoter side it's the five prime end moving down to the three prime end which is the stop we notice that there are splice sites exons and introns and I don't know about you all but my students always have trouble with so is it an exon or is it the entron so in my simple mind exon is a gas means go so our genes need to go and give us information so that will stay in the entrons will leave so exon is going to help us with the genetic message so then that's going to give us the MRNA we're going to have non-coding regions the importance with non-coding regions is that some of those will come and go depending on which protein that we want and that's another piece of important information to share with our students remember I talked about the nucleus versus the cytoplasm and that the reason that's important we remember the ribosomes are in the cytoplasm so obviously we're going to have the DNA message moving via MRNA into the cytoplasm we see the triplets and let me see if I can we see this message that will become the triplet codons and this will then give us the amino acid message read as the three triplets and so this is the RNA processing before translation and again we see the DNA axon introns we get rid of the introns have our axons and then we translate down to the protein so here again is our triplet code spelling for the amino acid the first one the go is AUG and it always spells go and it's here but it also spells methionine and I decided I like the DNA alphabet because it has three letter words and not four letter words and so that's another thing that's important to help our students remember so we have three letter word that is a go message and then we continue on with our different amino acid triplets to help us grow our protein and then the stop message will be these three so then we move on and the thing that's important to remember is that many amino acids have many spellings some only have one some have many so why is that important well obviously if you have this one has the start message also tyrosine has two tryptophan has one if you misspell tryptophan you're not going to get the correct amino acid therefore there's a high probability that we'll have a dysfunctional or nonfunctional protein so these are just examples of some of the amino acids and why we need to have the correct triplet spelling the other thing is if we would help our students learn talk about this this position means that it's pretty easily exchanged and still have no problem and you can see here's a guining here's an adenine here's a cytosine here's a thymine so the third position doesn't create as many problems as the first and second okay so then that moves us when we think about the triplets and the DNA and the adenine cytosine guining thymine message if we have one single nucleotide if we have one thymine or one cytosine if we have one nucleotide that is not correct then that is called a single nucleotide because it's only one that has been changed a single nucleotide polymorphism now it turns out that these are considered frequent meaning that there's more than they occur more than 1% of the population they occur in more than 1% of the population so a SNP is going to be something that occurs commonly if you will a mutation occurs less commonly so let's talk about that just a little bit more if we have a SNP or a mutation again it's going to be one nucleotide one letter so if our normal protein gives us the message that the big red dog ran out that's our normal protein if we have one letter change a single nucleotide polymorphism it could be that it gives us a missense and in this situation it says the big red dog ran out well it's not a red dog but it is a rad dog and while it's not the same message we still get what's going to be happening the dog's going to be running out if we have lots of the letters deleted then we're going to have something that is a nonsense mutation and we just get a message that says the big red so we're going to have a protein that does not work it could be that we have a deletion a frameshift deletion so we lose one and everything shifts down the red dog what does that mean who knows or frameshift insertion and we have it going the other way and people don't know again what does that mean so it's a protein that is not working okay so when we think once again about polymorphism I've told you that polymorphisms occur in more than one percent of the population so you guys if you look around the room look at the person next to you we know that we're 99.1 percent the same 99.1 percent the same and so the things that make us different are our polymorphisms okay and those are very common and many of them and then mutations are considered very rare so when you think about an example to help us communicate this with our student and Kathy and I've talked about this before we both came up with the same example and I've never heard her and she's never heard me talk so anyway the best example for me was cakes we have a cake recipe and we know what the ingredients are and we'll say that the most common type of cake the wild type of cake is chocolate okay so the most common type of cake is chocolate and we would also call that wild type because it's the most common type I think that that's an interesting name too wild type it's like people that have brown hair that's the most common type of hair color but wouldn't you think blondes are more wild than brunettes so anyway wild type so we have our chocolate cake well then we realize that if we change our recipe just a little bit we can have strawberry cake well that's still a good cake tastes good we can have lemon cake red velvet cake wedding cake I'm not certain what all those others are but they're still cake and they taste really really good so it's just a change in the recipe then at some point the recipe changes and we get something that we don't want and we don't expect and in this situation it's a cookie and someone says well there's nothing wrong with a cookie well I didn't want a cookie and so in this situation it would be a mutation because it's not wanted typically a mutation is not going to be working appropriately it would be a dysfunctional or a non-functional protein okay so then to move a little further a mutation is a change in the normal base pair sequence it's commonly used to define DNA sequence changes that alter protein function where we've already said that and reinforced it so how would we use this information in the nursing education setting well first of all it might help us identify and describe disease or disorders that are affected by these abnormal proteins or the abnormal genes oncology is a good example it might help us discuss biomarkers that identify dysfunctional proteins or it might help us identify new treatments so again in the clinical setting as we assign patients it would be something that we could talk with them with the students about and say okay how does genetics impact this particular patient so then when we think about mutations even more a little deeper we know that they're somatic and there are germline mutations and somatic mutation well let's start with germline germline means that it's present in the egg or this firm germline it seems to me that that would be bacterial induced since it's germline but indeed we know that it's ova or sperm these are heritable and they cause in this situation cancer family syndromes but it can also cause other family syndromes so it affects all cells in the offspring all the cells are affected in germline mutations the other example is somatic somatic occurs after birth at some time after birth at some time and it is not in all the cells so it's not heritable it's only a few of the cells and it's called a somatic mutation for an example sporadic breast cancer so examples of somatic mutations could be normal lung cell and then we see something that causes a mutation or a change and it accumulates more and more DNA mutations and problems until we see a lung cancer cell develop so again this is one cell that develops into a cancer another example is diabetes you would have a normal cell and one theory of diabetes is that it's virally induced and so it could be that in that cell we would then have some changes mutations and it would create a diabetes islet cell with non-functioning protein so essentials seven and nine then talk about identifying patients with germline versus somatic disorders in all clinical settings so it could be OB it could be med surge it could be geriatrics as a GNP I see people not using genetics and gerry perhaps we could use it to assess dysmorphisms they always when I was in clinical talked about funny looking kids and in reality are there um changes that might mean that there's something going on with this patient that is genetic and so that could be important and then discuss the patient implication patient education implications mitosis and somatic so we know that mitosis is associated with somatic mutations again because it's only one cell not all cells and then we see myosis or me which would be germline becoming me osis and germline mutations nursing education implications for this again could be it follows essentials seven and nine family and patient education regarding prevention and screening of germline mutations so being able to talk with the families and the patient about what does this mean for the patient but what does this mean for my grand children one thing we also always talk about is that with all the changes like doctor Guttmacher was describing this morning probably in the next 20 years when we all fly somewhere they'll just give us our DNA sequences we get on the airplane and we won't be going through some of these changes perhaps who knows um explanation about medications for prevention or customized therapy especially we're seeing this happening in oncology and i'll talk about pharmacogenetics in just a second de novo mutations no family history of hereditary cancer prior to this or no family history of any disease that we're seeing in offspring and then we see new mutations in the germ cell implications include the essentials using family history if there's a to see if there is a de novo looking at some of the lab technology for example sky chromosomes I think I love to see these because this shows how the chromosomes are not all the same there are large delusions insertions translocations and therefore we see different changes this is an example of translocation of the genes and so again this would be important to be able to describe with students genotype versus phenotype what's in the gene versus what is manifested in the patient essentials talk about with the students in the clinical setting again or with case studies what is genotypic versus phenotypic in what we're seeing utilize assessment skills to again identify the dysmorphisms you could even play a didactic game of who am I and give them a situation and then have them figure out what disorder is this and then you could take it on further and have them talk about well what would you look for diagnostically what would you want to see is there what would you see for treatments what would nursing interventions be patient advocacy related to the fact that some of these populations are different because of changes that we see defining alleles alternate form of a gene and allele is an alternate form for example different hair color gives us a different allele and allele is a gene but it's a different form so if you have blonde hair brown hair red hair those are all alleles and one is always in charge if there's a mutation then someone else if you will another allele gets in charge so sometimes you can have diseases that are from the same allele from the same gene but a different locus a different GPS if you will on the gene and then you have a different phenotype so it's a same allele different locus and different phenotype you can have a disease that has a different locus has a different allele but it's the same phenotype and the best example of this is breast cancer our phenotype is manifestation of a breast lump a different locus because there are two different chromosome two different loci on two different alleles penetrance is basically if we can see it is it there things that affect penetrance could be important talking about genes that might modify DNA damage repair mechanisms carcinogens that might affect penetrance hormones like estrogen age as we get older we see people have more cancer diagnoses epigenetics is part of this what we know about epigenetics is that it tends to occur more frequently with cytosine and guining and cytosine and guining tend to be close to the promoter at the very beginning of the gene so cytosine and guining we might see clusters of that and so what happens is if you eat lots of McDonald's hamburgers or do other unhealthy things it could be that we start seeing methylation of the cytosine and guining so then what happens is that as we start transcription we're here but the methylation forms in a way like a bridge so it skips what we typically would see transcribed and goes from here to here okay so when they talk about the DNA does not change with epigenetics it's because it skipped all right so because of these methyl groups and they actually kind of form like a bridge so again what kinds of things would help with epigenetics in the classroom setting talking about nutrition diet exercise because those can actually help kick the methyl groups off so I've said that to prevent certain multifactorial diseases carrier frequency is another concept being able to look at prevalence in a population including founder effect again good examples might be Ashkenazi Jewish populations and then talking about autosomal dominant and perhaps in the classroom setting you don't always have to do all of this from scratch every time which is what I think a lot of faculty feel like they have to do remember back this is an example of autosomal dominant this is an example of recessive this is an example of x-linked and then when they're in the clinical setting be able to again talk about why they think it's which one and then again utilizing the pedigree pedigree also known as family history now personally I like Tigger and his family history but in reality that's not really going to give me very good information about my family or my patients and so a complete family history is much better you want to use at least three generations we know that squares are males it's easy to remember that because all males are square and women are well-rounded right? I'm in a fantasy world but anyway so then make certain that we can communicate symbols obviously this means that our person in this family is deceased and what we would really like to see is a D for deceased and then the year they were died and from what disease we can see that these two have a partnership and that they had three children one female and two males and then here we see that there's a carrier male and then married to a female and then we have these two children and these two have a marriage or partnership and we have one child and then that person had one child also so the other thing is we've designated generation one, two, three and four and then we've also designated that this is the maternal side paternal side and theoretically this would be M1, M2 of the first generation so that they could communicate what is going on with which individual also this could be that they are affected with the disease so this person could be a carrier this one is affected and probably we would see something happen here but remember this is my fantasy world so everyone as well okay so and later on they'll be talking about the Surgeon General's site which is a site that students can use to begin to develop their family history communicate the symbols and make certain they're utilized in all clinical settings I frequently have students that have said to me well Dr. Eggert we learn how to do pedigrees in every single class but we have never used them in clinical and they really were wondering why that was and so we did a little it's not easy and probably the best approach would be if you're in med surgeon you're working with a patient maybe you need to just start out with heart disease or start out with cancer or start out with one type of systemic disease or one disease but the point is we did a little quick and dirty research and we found out that it worked in a mobile setting and the students identified more health problems in their pedigrees than the healthcare providers did in their family history so that had an impact on the care they could provide so pharmacogenetics quickly through this this really was just to show that there is interaction between genetics the environment and drugs and they all work together for good or for not good when we think about genetics we could see changes in the drug target we could see changes in the transport system or drug metabolism which could be CYP the CYPs or enzymes mutations can cause absence of an enzyme it can cause diminished enzymes it can cause problems with substrate specificities so the drug cannot target correctly and it could be that we would have increased enzyme expression so the rest of this you all what I tried to just help us remember this would be great for pharmacology pharmacogenomics and pharmacology just remembering that the kind of alleles that we could see would be heterozygous they would be intermediate metabolizers they could or excuse me hetero yeah that's right heterozygous they could be extensive metabolizers homozygous they could be poor metabolizers recessive homozygous or they could be hyper active and actually have three genes or three alleles associated with that so why is that important because that moves into our inhibitor and induce or if you will cytochrome activity inhibitor obviously is going to prevent decrease so the drug isn't degraded so we have lots of toxicity so when we're thinking about students in the clinical setting lots of toxicity specifically if we knew that a patient was going to have that problem we'd be able to identify a better drug or identify early we need to monitor for these toxicities if it's an inducer an induce whore if you will it increases enzyme activity so that more drug is deactivated and there's less drug available for effect so you can appreciate that inducers need less drug I mean more drugs excuse me and inhibitors need less yes okay so then these are again just a little more description with the two non-functional drugs poor or metabolizers so they're inhibitors versus ultra would be inducers if you have an active drug versus a pro drug that's a poor metabolizer things that it would be important for us to point out to students and have them think about in the clinical setting this just shows again for metabolizers have toxic doses versus ultra don't have an effective dose another way to look at it this looks that pro drugs come in and then they have to be metabolized and active drugs are later this is I guess another way to look at this helping students understand what are cytochrome p450s well it's a group of more than 40 enzyme systems sip means that they're human who knew that sip was another word for human add a number for the family for example sip one is the first cytochrome sip two second etc add a capital letter for a subfamily add a second number for a single enzyme and then a asterisk and a number for the variant okay so if you have asterisk one that is the normal gene anything after asterisk one is a variant so asterisk one is normal and then the variants okay so why is that important again because we know that some of these especially this sip 2d6 we see this 10% of our patients are poor metabolizers and have this gene and 7% so yes that's not very many that's very few but it's still enough that we're going to need to figure out do we need more drug or less drug what toxicities etc sip 2c9 is another example and then the sip 2c19 so again decrease the dose versus increase the dose essentials in the clinical setting identify the cytochrome family in the medications in the diet for example grapefruit we know can cause changes in uptake utilize the pedigree to review family history could be that there are lots of people that in this family that cannot metabolize codeine that they actually need morphine so they're known as drug seekers when in reality if we gave them morphine instead of codeine they would not come back and require more medication so that's another example identify ethnic origin I have slides later on to reinforce that these are non sip enzymes but they're still metabolizing we know there are a lot of enzymes in the body that affect drugs besides the cyp enzymes one example is this TPMT and we'll practice saying that word during the break so this is going to depend on the enzyme and the drug note the alleles and what I want to show you here again is that we're going to see lots of toxicities so it'll be important to check red blood cell labs education curfew mucositis other kinds of toxicities in this particular type there are some and I'll show you this in a second there are some that are available enzymes that can actually be tested this is another enzyme previously it talked about ethnic groups please notice that in the Caucasian group it's the wild type most common in african-american we see homozygous is the most common asians it's the least common so again we're going to see some different changes in people that have polymorphisms in this enzyme and this is just an example of what we might need to reinforce with our students so it could be the drug target and epidermal growth factor for example working in oncology there would be implications to work with this so why genetic testing most medications are prescribed without assurance these would be good questions to talk with students in the clinical arena because it's better to find one that works instead of using multiple there are billions thousands of dollars that are used at least trying to identify which drug adverse drug reactions trying to prevent those the importance of patient education we've talked about assessing the patients arranging for genetic testing the CYP2D6 has genetic testing available for it through the amplitude and it can be helpful in the clinical setting and again education about why testing is done after diagnosis but before therapy explaining genetic testing why we only need to do it once implications why different drugs phenotype versus genotype again this all reflects back to the early information and then talking about ethnic group variation I've already identified the difference with codeine African Americans especially have a low level of that enzyme that converts it to morphine so again it reinforces the importance of advocacy teaching the students about advocacy and further assessing and then I just included these slides because I thought it reinforced the ethnicity here we have Americans and notice this is that CYP2D6 this cytochrome works on 25 percent of our medications so Americans 7.7 percent are poor metabolizers and ultra metabolizers are 4.3 well what we know is that Americans are mixtures right so then when we move this down here we have Swiss 10 percent poor metabolizers Spanish ultra and we keep moving notice Ethiopians 29 very few poor South Africans mostly or 19 percent are poor and then we have Saudi Arabians that do have more admixture than perhaps some of us might have thought so that reinforces admixtures so the goal of my presentation was to identify basic genetic and genomic concepts for what we really need to know describe basic pharmacogenetic genomic concepts for what we really need to know and suggest application based on the essentials questions it's a lot of information okay thank you please use your microphone well my mind is reeling from a uh from a prescriber's perspective and when and and I I think we need to expand of course uh this type of lecture for nurse practitioner students how I mean just talking from the pharmacogenetics and only one drug that you've talked about coding and morphine I um that is a good question and how you know all I can say is from the perspective I also teach in the nurse practitioner program that I think it's going to have to be an expanded course that instead of one three hour it probably is going to have to either be two hours or included in every single class where you have you know talk about diseases on their treatments but the other thing is remembering that it's not only genetics that there's a lot of environment that comes in to play with that the focus for us today is baccalaureate and I don't think the students need to know all of that information but they need to be able to recognize that there are certain drugs that especially have impact from the sips and the other metabolizing enzymes and um those are available on the internet those are available there is the textbooks have chapters and so I think it's easier to see the ones that are most commonly given the ones that most commonly have lots of side effects coumadin for example can now be tested does that answer your question yes and do you see you know like people like who write programs like apocrates including this type of information they are starting to include it more yes we have our NP students FNP students are getting it more from apocrates but I guess again I want to point out the depth isn't as important but it is important for the baccalaureate student they need to be able to communicate what's going on and the rationale behind their concern okay anyone else you guys are very quiet thank you so we will take a break if you could return back by 10.15 you don't make it you know if back in july I never thought about it well all well okay so does this go out so we can put a you got to be children so I'm just thinking maybe there might be some so people are yes are they so there's some very you've got so they think I should try I don't expect I was just talking the there was a cd that was made a number of years ago that was so it starts out with weird words do you know what I'm talking about it's an informational cd or it's an it's a national do I I would do they used to get kept and now they it's get salute five years I would and oh okay where and And then it ends when you see the boys again. You're going to have a good time. It's all about how much you know. All of it. You're from the university that is leading up. I am. When my children are not, it's different. It's different, though. It's different. She's been working very seriously, I think. Which part? Underright. Underright. Oh, I need to do that. On IT. She has a degree already, so she's lucky. Oh, accelerated program, but now she's not sure. She has two kids. She wants to go there. So she looks at you. Yeah. Yeah. They celebrate. It's pretty intense. Yeah. I think. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Can I have everybody come back to the table? I'm sorry. We'll have a little more time to network at lunch, I promise. All right, everybody. How about your caffeine? Got your muffin ready to go? So I think we have a good stage set for the morning already between doctors Gugmacher and EGIRT and their presentations. And so we're really going to talk a little bit about implications for nursing practice and education and cover a couple of resources. And I've cut a little bit of this down in comparison to what's in your slide set just to make some effort to get us back on track in regards to the time so that we're able to get you out on time at the end of the day and still cover all of our content. So I really want to present this framework, which I think Dr. Gugmacher had set up in the beginning, which is that this concept that genetics and genomics is influencing healthcare across the entire healthcare continuum. I think in oncology is where this was recognized. The earliest in the oncology nursing society has done some work in that regard. But you can think about this in really from the time of sort of even preconception all the way to end of life and that the influence is that everybody's talked about this morning in regards to risk for disease, using genetic and genomic technologies to help diagnose different diseases, to treat different diseases, the influences for medications all the way through the entire continuum, including what Dr. Eger was mentioning in regards to pain control and end of life even. All throughout that entire continuum is where we're seeing influences. It does give you sort of a flavor of to begin to translate that into your curriculum and to think about how you can do that. It may or may not for a given school be a single isolated course, but an integration of the things that you're already teaching and beginning to look at some of that from a genetic and genomic perspective as opposed to something that's a little different. So a lot of what we are basing, what exactly is it that you need to teach to is both from the perspective of the baccalaureate essentials that Kathy McGuinn and the American Association of Colleges of Nursing have worked so hard on which are moving into the accreditation standards and the new evaluations, but some of what has been incorporated into that document is based on the essential competencies for nursing in genetics and genomics, which is now in its second edition. You received a copy of that when you came in this morning, and that's what we want to spend a little bit of time of giving you a flavor of what's in that document now and how that was developed so that you understand a little bit about that. And the intent of this was actually to help you guide curriculum content, and a lot of this was what ultimately went in from the genetic and genomic perspective into the baccalaureate essentials. So the framework of these competencies is that they're not replacing existing scopes and standards, and that these competencies are actually applicable to all nurses irrespective of their academic preparation, their role, their clinical specialty. They are applicable to people in practice. They are applicable to students learning about being a practitioner, and that the focus is genetics and genomics because that's really where genomics is where we see the largest influence on healthcare today. That influences everybody. There are a few language things. Clients are interpreted in this document and used throughout as persons, families, communities, and our populations. And I will make a mention that this was written consistent with Bloom's taxonomy because we were told that all of you faculty members would kill us if we didn't do that. There are two domains. The first is professional responsibilities and then professional practice and then sub-settings within professional practice, which is assessment, identification, referral, and provision of education, care, and support. These competencies were established by consensus and it was close to a year and a half to two-year process of consensus and then they went out for endorsement. And endorsement was that organizations were agreeing with the content of the document and that they would support and promote initiatives within their own organization to implement those competencies and that the term of endorsement was for five years, so you weren't signing on to something forever. And there are 49 organizations that endorsed and I'll highlight a couple groups. Most importantly, the American Association of Colleges of Nursing and also the National League for Nursing as two of the major education-associated organizations that have endorsed this. And interestingly, we consciously made a decision not to solicit endorsements from individual schools of nursing. We didn't feel that was what this was about or our intent to do that and it would really be outside the scope of our capacity. But then we started getting unsolicited endorsements from some schools of nursing. So some early adopters were with us right from the time of consensus. So let me and I cut some of this back just for the sake of time. Talk about the baccalaureate essentials and we have the expert in the room, Kathy McGuinn, who's spent a huge effort and I think more than a couple of years establishing consensus for this document. And we were delighted to see that in the end genetics and genomics has been integrated throughout and mentioned in isolation 16 times so we're pleased about that. But that you'll see some core concepts of things like pharmacogenetics and pedigrees and things like that that are indirectly genetics and genomics without using those direct terminologies. So there is a weave throughout and you'll see that we've introduced right in the executive summary where they talk about the influence of genetics and genomics on health and nursing practice. Of the essentials, you'll see most of the genetic and genomic content integrated into the clinical prevention and population health and the professionalism and professional values but I think Dr. Eger gave you a flavor of as you begin to think about how to educate your students about genetics and genomics there are elements of that that can be woven in to many of the other essentials in meeting some of those criteria. And I think that they also emphasize that this is a very complex healthcare environment that you're preparing nurses to practice in and genetics and genomics is a major component of that and will be an ever increasing component of that. By no means is it the only thing and we appreciate that but it is a huge element that's influencing healthcare and the healthcare environment and therefore the practice of nursing. We are now just launching and I say we not we but actually the American Association of Colleges of Nursing is launching the revision to the master's essentials and I think we can anticipate that as that consensus process develops over the next year or more that we may see again more integration of genetics and genomics into that document which current in its current iteration doesn't have that included and the document that they will begin to work from with the October meeting in Baltimore actually does have some genetics already integrated into that and as the consensus process builds I think we may continue to see more of that as time goes on. So it's not just the basic preparation but that follow through for those of you who are in schools that have programs that prepare nurses for advanced practice to see that this may also change as well. Very clearly we've spent a lot of time trying to hear what it is that you need as a faculty member to meet these competencies to integrate genetics and genomics into your curriculum and one of the first things was that the competencies are not enough. So what exactly is it that I need to teach to what knowledge do I need to give my students for them to achieve this competency and so we have taken on an initiative and in this second edition of the competencies integrated outcome indicators and the outcome indicators include two elements, specific areas of knowledge that support each competency and clinical performance indicators. What are the kinds of things that as a faculty member you could measure your students to guess? What kinds of activities could you integrate into your classroom or clinical experiences that would be of value? These are not prescriptive. So this is not everything that everyone needs to know. It gives you a flavor and an overview of the information that supports the knowledge needed to achieve that competency and some example clinical performance indicators so that it gives you a starting base from which to move forward. These outcome indicators were also developed through a process of consensus and with many of our expert advisors, many of whom are speakers here today giving us feedback as this went along and helping us develop this material so that it would be useful to you as faculty and so working with other faculty to actually help us develop that. You will notice that there is a considerable amount of overlap so you will find that there may be specific areas of knowledge that are helping to support more than one competency and we have presented this at meetings with the Beck Laureate program at AACN and heard Loudon Clear from the faculty reviewing early drafts of this that they would like that overlap because if they are teaching to a particular competency they want all of the things they need to think about in one place and so that is why we have done that to make it easier for you. This is what they look like it is in the back part of the monograph that you have received and so there will be the specific competency and then the knowledge elements will be on the left and the performance indicators will be on the right and again my only take home message is that what we need to be teaching to may change over time and that these are just examples and the clinical performance indicators are examples they are not prescriptive they are just giving you an idea of what to start with. So I am hoping that I caught us up a little bit in terms of our time being Italian I can talk very fast and I just want to make sure that we are sort of all on the same page of the relevance of this and in many cases I have certainly heard from a number of people does this really have anything to do with the Beck Laureate prepared nurse and how important is this how important is the family history and so I am going to give you a story about a nurse that I work with who is taught to take family histories and she is a Beck Laureate prepared nurse she works in the National Naval Medical Center which is just across the street here and she works in their breast care center as a case manager and so she helps to manage people newly diagnosed with breast cancer and so she called me one day all in a frenzy you can't believe what happened she says and so she told me this story she had just hung up the phone she had many many months earlier had been taking care of a newly diagnosed breast cancer patient and had gone in and that person had presented as part of her routine assessment she did the family history and she asked about all of the elements that are important to family history including race and ethnicity on each branch of the family maternal and paternal lineage collected that information and then was sharing that with a health care provider and this person had come with a support person someone who is a friend of hers who is a breast cancer survivor and when the physician came into the room to do the exam the case manager exited the room as did the support person and the support person who was a long standing breast cancer survivor said you know I was curious about this family history I didn't realize my father's family history had anything to do with my risk for breast cancer and I didn't realize that my ethnic background could potentially be important and this is a woman who had had an early diagnosis of breast cancer and had a paternal family history and was of Ashkenazi Jewish heritage and so being someone who had been taught to these core competencies for all nurses at the baccalaureate level she knew how to assess she knew the red flags that was a red flag she knew how to make a referral so she referred this person to a genetic health care provider in their area and she thought well did my good deed for the day got more important things to do I got all these patients to take care of you know off I go well the person who had just called her was this support person the breast cancer survivor found out she did have a risk of harboring a mutation in a breast cancer susceptibility gene got genetic education and counseling decided to be tested was tested for the three mutations that are common in families of Ashkenazi Jewish heritage found out she had a mutation found out she had an increased risk of not only developing another breast cancer but also a varying cancer decided to have her ovaries removed after consultation with you know experts in the field had her ovaries removed and just had hung up the phone from the surgeon who told her they had found pre-cancerous cells in her ovaries who was the person who saved her I think that we can honestly say that one person who made the biggest difference in this case was Barb Ganster and all she did was very simple things she knew how to take a family history she knew what to look for she knew where to refer that's baccalaureate preparation that's what we want to prepare our students to do so I'm going to end there and do you have questions? we're going to utilize some of our faculty champion exemplars people who have begun this process of integrating genetics and genomics into curriculum and with their stories hopefully we'll give you some ideas of things that might work in your area so please turn to the information about Cindy Prowse and Kathy Reed slides in your brochure and we'll move on to there so our next speaker is Cindy Prowse as Jeannie mentioned she got her BSN and her MSN from the University of Cincinnati Cindy has a stellar reputation of actually developing novel online education programs both for students and practicing providers and most importantly her in-person and now web-based genetic institutes for faculty and she'll talk to you more about that this afternoon she's currently in the division of patient services in human genetics at Children's Hospital Medical Center in Cincinnati Ohio and welcome Cindy that was a great story by the way Kathy powerful story yeah alright I was asked by Kathy to talk about how to evaluate or use resources for evaluating the nursing curriculum and you've already heard about the baccalaureate essentials and the genomic competencies for nurses and so back in 2004 Carol Hedeberg and I published a checklist that was developed for from 171 nursing faculty actually more nursing faculty than that but from 171 different nursing schools who participated in a genetics education program for nurses Genetics Summer Institute of our web-based genetics institutes and they were given assignments to come up with plans for how they were going to integrate genetics into their curriculum and so this checklist came from was essentially a summary of what those nursing faculty plan and there are four components to the checklist and you do have that checklist in your book your handout yeah you don't have the slides because the slides are really not important it's the checklist although the slides will be available on the web if you want them for some reason and there's four components determine existing genetics content and identify the gaps increase faculty awareness about the need to include genetics as well as to increase faculty knowledge about genetics and then different strategies for integrating genetics content in the nursing curriculum for this talk I was asked to focus on determining the existing genetics content and identifying the gaps well since the checklist is there in your handout you can read that but what I thought I would do is we have since had several different additional web-based genetics institutes that are attended by nursing faculty as well as advanced practice nurses nurse researchers and they now get to choose what their change project is going to be is it going to focus on curriculum or are they going to come up with a plan for how they're going to use genetics in their practice or are they going to come up with a plan for how to incorporate genetics into their research project so 65 subsequent participants from about that many different schools have described what they were planning in discussion threads and pretty consistent with the checklist, 85% assessed their nursing curriculum primarily didactic courses and you should start hearing a theme that it's important yes the didactic getting genetics content into the didactic courses is important but if you don't take it from that those courses and help students translate it in the clinical arena then how are they going to actually use it in practice when they go out so we got to get it into those clinical courses as well 32% assessed their pre-nursing curriculum sometimes they were doing that to assess what were the gaps what content is being delivered in the science courses and what gaps in genetics needed to be filled but also some were just assessing the pre-nursing science courses because they wanted to know what the foundation was that the students were coming in with and then build from that point rather than try to make changes in the science curriculum and then 28% assessed their own courses the other methods that were used were kind of informal and that was to ask individual faculty what are they teaching faculty were simply saying yes I have a genetics course or no I don't and that was the assessment another thing we're going to hear is while we think that a genetics course by itself is great some of you spoke in the very beginning that that was just not an option in a crammed curriculum and if you simply put all your ducks into a course and it's nowhere else then again the students cannot apply in the different arenas that they're in and it needs to be threaded throughout so course is great if you can add it but please integrate as well some faculty would get all the course descriptions and topical outlines and evaluate it from that and look to see whether objectives had any kind of genetics and others were surveying faculty some of the things that came up in those discussion threads which continues to be a theme is textbooks and you've heard that some of you had mentioned that where are the textbooks for this and which textbooks are good the textbooks that we use in the web-based genetics institute are more of the human genetics because in the 18 weeks we are really trying to give foundations so but that may not be appropriate we have some like we said some textbooks there and in the back of your booklet on the genomic competencies there's some others listed as well and to determine gaps that's pretty obvious to compare them to the baccalaureate essentials and the genomics competencies and then some faculty have plans and I think this is great to evaluate the student's genetics knowledge near graduation and then one year after they're out in practice and what a better way to evaluate the effectiveness of your curriculum than something I think that's ideal and more power to them for doing that some faculty in their assessment process were identifying other faculty who were interested in genetics that was something that we heard during the genetics summer institutes and we hear in the web-based genetics institute I don't want to be the lone ranger out there doing all the genetics I need a team so finding those other faculty members who are at least interested in genetics who support it but might be a little timid about it and help one another make those changes also any genetics experts in the community clinical sites that might be available for assigning students where they might get some genetics exposure and then also assessing faculty members genetics knowledge this is all going to provide you a type of gauge for what kind of curriculum change capacity you have at that time and what you need to work on I really liked this quote because we many of us in genetics have been preaching the importance of getting genetics throughout the curriculum and one of the faculty members said that each course touches briefly on genetics so cumulatively students skim but never get the whole picture I think that is a wonderful insight and a wonderful caution as you start to do this it has to be a coordinated effort well planned strategic effort on where are you going to put this genetic content and how are you going to build from one another and again how are you going to help those clinical faculty and I understand that in some of the bigger schools are having to rely more and more on part-time clinical faculty and how are you going to help them be able to get this into their curriculum as well and later on in the afternoon I will be sharing some resources that will help and you'll hear from other faculty who are doing it who will help with that as well so I'm not going to read through these because I've already talked about some of the updates to the checklist I would do if Carol and I were republishing those but we already talked about those these are the updated websites for the PDFs and the scope and standards is now a 2007 and on the checklist it's the 1998 this was another suggestion by one of the faculty and I thought wow that's a really good idea I need to start talking to some of the nursing faculty in our area that maybe I could do this and that is to invite genetic experts to the pre or post clinical conferences you know so if you happen to have the luxury of having some genetic expertise in the hospitals that you go to or in the local area that you can again invite to some of those conferences that that would be another area to add genetics content and now that's it for my talk it's nice and brief and I'm then going to introduce Dr. Kathy Reed who will discuss her actual experiences at Boston College School of Nursing and how she did this Hi everyone I'm sorry I missed the introductions this morning I have a feeling there was some rich information given I flew in from Boston so I made it just in time but I get I look forward to meeting some of you later on so I went to my first eye song meeting about 12 years ago International Society of Nurses and Genetics at the time I was a PhD student looking for some like-minded people and I'm looking out there and there they all are and it was a tremendous energy in that small nursing organization that really has sort of mentored me along the way and now here I am standing up here talking to all my colleagues and it's really an honor and a privilege to be here at this venue to talk about one of my passions which is genetics in nursing and teaching genetics to nursing students so I come from Boston College they put Boston University on my name tag but I crossed it off because if you're from Boston you know there's a big rivalry between Boston University and Boston College no one else cares but it's a Jesuit Catholic University in Chestnut Hill and we have a pretty big baccalaureate program maybe not big for some of you but it's I have 395 undergrads and we have a couple of hundred masters master's entry in PhD students and it's an interesting place to teach because we teach across levels so I'm the associate dean for the undergrad program but I teach pathophysiology in our master's program and I have several PhD students that I advise so it's really great it's good for the students too my undergrads really benefit from what my grad students and my knowledge from working with grad students get me anyway so our last CC&E accreditation visit was in April of 08 and somehow I got the job of authoring the self-study which is a terrifying experience I know that you're all sort of in the beginning of this and some of you probably have some experience I was inexperienced at the time but I really left the, of course we were successful so I was happy but I really became a very strong proponent of the process because I learned a lot in it it's really a good thing for your curriculum and I just want to emphasize that they keep telling you how they're there to help you and I really did sense that through the whole process I think we got a lot more out of it and it's not they don't go in there and scrutinize everything you're doing now we were using the old essentials I think we just got in at the last minute for using the old essentials so it was a little easier and now we're doing curriculum change based on the new ones you're all using the new essentials and I have to say that they're extremely detailed they're extremely forward-thinking and fabulous and many of us in here participated in the drafts of those and so don't, I guess my messages don't feel like you have to have everything they want to see that there's a process working toward the baccalaureate essentials and we're all still doing it but to have essentials that were watered down wouldn't mean anything so now we have some really tangible goals to work for so in I came to BC in college in 01 and I was lucky to come to a university where there were people who were already sort of interested in genetics you know Margaret Carney, Sandy Mott, Judy Vessi so I was in good company 01 was a big year you may have heard this morning what happened in 01 but that's when the Human Genome Project finished up which really was the beginning of our work so I was very energized at the time I just finished my dissertation and I decided that I wanted to do some work in finding out about teaching genetics to undergrad students this is what I was doing and I really was curious so along with my colleagues we decided to write this article based on a survey I'm going to talk about in a minute so you have this article in your packet and it does give more details on some of the things that I'm going to talk about in a second and then Kathy and Jeannie have given you the essentials so I just want to say how we've really come a long way since 01 it's amazing to me that this document is out in the shape that it is and it provides us so much guidance you know as you do your yourself studies for the CCNE visit your main thing is to show how you utilize nursing professional guidances and guidelines so this can really provide evidence that you are in fact thinking about these things are you going to have it down by the time you have your visit? No but you're going to be in the process so the first thing we did in 01 was based on some history and I already mentioned my esteemed colleagues at Boston College who had thought about this before in the late 90's as part of a sort of baccalaureate program committee work had used Felicia Lashley's guidelines for recommended genetics content to kind of survey the faculty and find out what was going on there were some recommendations and some follow-up on that and then more formally we formed this genetic interest group in 01 and that's a great thing to do in your school it was just four people the four people who authored the article and some random people who came in and out of the meetings as they wanted to and we had some hard talks about how we can do this how we can make this better and we all had an emerging passion for it so we decided to conduct a survey of our course faculty to look at the integration of genetics and see what we really did and when you do a survey you need some sort of guidance for what it is you're going to survey so at the time the nitchpeg guidelines had just come out and you have a copy of those what it looks like nitchpeg is the national coalition for health professional education and genetics this is a multidisciplinary guidance this is what all health professionals are recommended to know about genetics so they're not nursing specific but at the time we didn't have the nurse based competencies so we used this to set up a very sort of informal paper and pencil survey that we distributed to our faculty and the nitchpeg guidelines look at knowledge skills and attitudes that all health professionals should possess so you can take a look at those they're printed out for you so I'm a proponent of survey research and a survey isn't the only way to figure out what you have in your curriculum you know that you could go and look at all the syllabi but I found from my personal experience that there are things that are being taught in the course that aren't reflected in the syllabi so we decided to actually ask the faculty so we constructed this survey based on the nitchpeg guidelines the faculty from 20 required science and nursing courses and luckily for me in my university the students are admitted as freshmen so they have their science courses in the university and I know those faculty even though they're not in the school of nursing so that's an advantage we have a four year program I get to know them from day one through graduation we got 100% response right that's easy to do if you don't make it anonymous and you can nag people and it was successful and to get an end of 20 isn't really that bad this wasn't a scientific survey at all but it was really I thought it was worth publishing so you know I did it wasn't as daunting a task as I thought so all we did was ask the faculty to indicate whether the competency was met even partially in their course and we took out the nine competencies related to the advanced practice role and we learned that all the competencies were addressed in at least one required course some more than others so this might not surprise you you might think the same thing in your school the competencies most often addressed related to genetics terminology how identification of genetic variation facilitates clinical care the importance of family history and then the need to protect privacy autonomy and cultural identity we did better than average on those what were the least often addressed that were in the niche paid competencies were indications for referral history of misuse of genetic information and ways to access and disseminate current information about genetics and related policy issues so that was 2002-2003 so I haven't repeated that exact survey because it's not exactly the same faculty but I was curious to know last year how faculty felt about about genetics in the infusion in the curriculum and I let me say something else about survey I started to say why I was a proponent of survey research because it's not just the data that you receive it's it's the whole diffusion of innovation where people start it heightened everyone's awareness of genetics that's really all it did every faculty member thought wow you took enough time to survey me on this and here's the points I should be teaching and all of a sudden there was a heightened awareness everywhere it was a very simple thing to implement and I would recommend that you all do it in one way or another now it's so easy with survey monkey we didn't have that at the time we did paper and pencil but even if you don't use the data and don't be afraid to find out that you don't do things very well some of your schools probably teach a lot of genetics I know there's a lot of crowd from many universities who've done a lot on this already so but it's not I guess it's not just the outcome of the survey it's the process of the survey itself so last year I did a follow up again this was not a scientific study at all all I did was ask three questions how important are genetics related concepts in the nursing theory and clinical courses that you teach and more than 90% said somewhat or extremely important I don't think that I would have gotten that result in 2002 now I don't know so like I said it's not scientific but I was pretty happy with that result I think people have really come along I asked which of the following best describes your incorporation of genetics related concepts into nursing theory and clinical courses over the past five years 80% more than 80% said somewhat or a great deal again I was pleased with that there was only 23 responses to this and that was not 100% response rate because I did do this one survey monkey and then what are your usual sources of information about genetics related concepts it was highly variable most people put periodicals and online sources a bit lesser reliance on course textbooks as we know textbooks as wonderful as they are they're a couple of years out of date by the time we actually get them in our students hands the popular press you heard Dr. Guttmacher with his time magazine not to tell you I've used time magazine a few times because they can scoop the news before I get a chance to get to the scientific literature and then some there are some other sources like word of mouth going to conferences etc so people get information in all different ways so when you go to do a survey and you go to or more importantly you go to write yourself study you want to show the professional nursing guidelines and standards that you're going to be looking at so there's a lot of things I'm going to mention a couple of them that are good or not good and you can decide for yourself because like I said if you're going to do a survey you want to go buy something you don't want to make it up in your head so the first thing I we always that's very important to us as baccalaureate nurse educators is the NCLEX RN test plan it was the most recent version is on the web from 2007 and I'm sure you all know how to access that and the other one is what we are immersed in right now and that's the essentials of baccalaureate nursing education so you have that and I'm going to talk for one second about those so you may or may not know this but there's only one time the word genetic is mentioned in the RN detailed test plan for the NCLEX so I think we have a really long way to go because we all know that we say we don't teach to the test but the reality is our students have to pass the licensure exam and if we're not addressing what's in that they've redone the the job study, I forget what it's called that the NCLEX is based on a practice analysis that's what's called, it's on that but it takes a long time for that to get in and Kathy has mentioned how and so Cindy about genetics not being incorporated in the clinical courses as much as they are in the theory courses and I think this is where the big gap is that we're all going to have to address in the many years and of course when it becomes a requirement of their day to day care of the patient it's a little bit easier to incorporate it but we're sort of in that gray area right now where we have to help them pick out the genetics aspects. Now a lot of us in iSong have written NCLEX test questions and many of you probably have too and if you haven't it's a great experience it's really where I learned how to write exam questions and so even though they don't when you go to one of the item writing sessions they divide you up into sort of adult health, PED, psych they don't divide you up according to genetics but I always try to make all my questions about genetics so but of course I have no idea if they ever get in the licensure exam or not I can ask my students and you know when you ask them what they saw on the test you don't necessarily get very valid data they always tell you the things that are probably the test items they always come back and say oh it was all on disaster planning I'm like well if you had 15 questions on disaster planning chances are they were testing out those questions anyway but anyway you all have the same issues that I do with the NCLEX. So I think Kathy and I need to get together because she said there's this appears 16 times but maybe I'm more optimistic than you are when I did my word check of the number of times the word genetics or genomics turns up in the AACN as I came up with 18 but I will go back and check anyway well I use the thing in the PDF where you can search so you know we're all pretty proud of that and a lot of us worked very hard some harder than others going to all those meetings that you had Kathy to around the country to get feedback from people and I think it's pretty amazing how much genetics is in there and I'm actually really proud of that. So I think I'm not sure that using the genetics concepts in the essentials is maybe a good way to format a survey but take a look at it and see if you think that would provide guidance for you on the things you want to survey your faculty about in terms of assessing your utilization or incorporation of genetics. I just put an example of on page 31 and I won't read this to you but it's an example of the genetic and genomic content in the revised Baccalaureate essentials. I never did a count of how many times it appeared in the old essentials. Does anyone know that? Not many. Of course you know they're only done every 10 years or so. Yep. Right so every 10 years and you know but I guarantee 10 years from now we won't be taking out any of the genetics content or words or concepts that are in there. There are also some other professional nursing standards that you could look at and I haven't mentioned those here I probably should have mentioned the ISONG scope and standards of genetics clinical nursing and also the niche paid competencies you could use. I don't know if we're going to talk about the ISONG competencies or not but if it was me I'm going to go with genetic and genomic competencies second edition if I'm going to be evaluating my curriculum again. So well of course we're evaluating our curriculum because we all know it's an ongoing process but every now and then it stimulates you to push it a little more you know not just go to the meetings and make random changes so we're undergoing right now a structured curriculum review and it's timely because the essentials just came out and the CCNE standards changed and we just had a successful visit so we can sort of sit back for a few years before we have to write our five year report and really think about our undergraduate curriculum and the problem that I'm having that I know all have is the multiple competing demands okay because the essentials are really strong in genetics but they are also really strong on other things that we need to beef up in our curriculum cultural competencies gerontology informatics evidence based practice the Q send stuff it's so how do you do that all you're all shaking your heads and I don't have the answer to that but we're trying so what we've done is we started our curriculum revision last January we've been Professor Sandy Mott is spearheading this with me luckily that's great for me she has a lot of experience with this kind of thing and she's also a faculty champion for genetics so that's good but we met monthly January to June and we first thing we did was set our goals identified our strengths and then we looked at we all got binders of all these professional guidelines a lot of guidance from the AACN regarding cultural competency genetics everything I'm almost done revising our program objectives and that's a big place to start and you're doing curriculum revision I don't think that the word genetics appears in our undergraduate program objectives but the concepts that would allow them to fit in under the course objectives or level objectives if you have them really works now we're convening subgroups because we've sort of done the basic work and now we have to say alright so we just sent some people to the AACN gerontology conference so those people are going to look at throughout the curriculum where do we teach care of the older adult we don't have a standalone gerontology course but we have many courses that it fits in same deal with genetics we've never gone down the route of a standalone course it's my personal philosophy and the philosophy of the others at my school that a standalone course would be fabulous granted but something about having a standalone course in a school of nursing makes people the faculty teaching specialties feel like well you got that in your genetics course I don't know if that's really true that's just my impression and rather than really beefing it up everywhere which is what we want to do it's got to be in pediatrics it's got to be in psychiatric nursing and of course has to be in adult health I think a lot of us around the table grew up in the era where we learned genetics anything I ever learned about genetics was in OB or PD and that's not where it needs to go now all cancer is genetic we have to get that message across all cancer is nothing more than a mutated cell it's a genetic mutation Alzheimer's disease there's a lot of genetic implications of that or correlates of that cardiovascular disease age-related macular degeneration diabetes type 1 type 2 all of the really important and prevalent causes of morbidity and mortality in adults in this country and elsewhere have a genetic basis so we have to stop conceptualizing it as a pediatric entity and you know our students are fine with that honestly it's sort of embarrassing what our students come to us knowing if you look through a high school high school biology book lately I know this because of my own kids it's stunning what they learn and so don't let them get away with saying you have to go through teaching them what a punnett square is because they know what it is we're the ones that got to get up to speed on it because we didn't have it in high school or college but that doesn't absolve us from the responsibility of being state of the science so I know the whole afternoon is about ways to achieve integration of genetics and genomics into B.S. curricula but I can't help but use the podium to give a few of my experiences I'll go through this quickly because we have a whole afternoon on it but you know you want to get a key group together if you can it's going to be two people that's more powerful than one you know if you go back and you're a single person with a voice it's going to be a little harder and if you can form a committee because you can always say well the committee decided that's what I do all the time it's me and another person but I do that with students all the time they buy it and then perform a survey if you want to and another thing that helped us a lot was just to you know how you all have faculty development programs even if it's an hour a year and who can do some what we did was we got a genetic counselor from Brand S. University that I happened to know to come in and talk about genetics in the adult and genetic diseases in the common adult onset diseases forget you know cystic fibrosis tickle cell anemia people get that we've known about that for a long time we might not have known the exact gene but we knew about you know the Mendelian genetics so get them to talk about cancer genetics get them to talk about neuro get them to talk about sight those are harder to talk about because we don't have answers I can't tell you oh it's you know it's this valine to glutamate substitution that's causing Alzheimer's disease but you'd be surprised what we really do know and we got to stop being afraid of what we don't know we made a genetics bulletin board I actually just had a work study student update our genetics bulletin board it's easy easy thing to do and the student got a lot out of it and then send key people to meetings and trainings like you're doing now and there's a lot of them available you're going to hear about some of those this afternoon use your professional nursing standards as a guideline and there's so many resources out there that you're going to hear about this afternoon don't think you have to write these resources go steal the slides I do it all the time I teach pathophysiology in our grad program my whole slide presentation on genetics was lifted from somewhere and it's out there they want you to use it also like I mentioned make sure you know what is taught in the basic science and have some expectation build on that not start over you know we start over talking about autosomal dominant in four courses and we found out we were doing that we have to stop doing that we have to it's part of the vernacular so we have to make it there and finally you know get rid of the fear factor any of these experts in the room would tell you that they don't feel like experts because honestly the big thing about education as many of you know from your doctoral programs or masters program is the more you know the more you know you don't know and you know that's one thing I really learned through my education is how much information there is out there and how I really don't know that much of it but that doesn't remove my passion for learning it and you know my reality about what I can achieve and I can't be an expert but you know I know more of my students so thank you from the city of Boston we finally finished our big dig still not any better driving but I'm going to be around all day so I can take questions now or I think we have plenty of time for questions thank you you were talking about the challenges so is there anything that thank you I missed this morning when you were introducing yourself so if you don't have any questions I'd be interested in hearing what your challenges and or solutions have been I actually have a quick question it sounds like we all need to go back and do a survey that would be one of the first things right good is there a pre-made survey that we could steal all I did was take the niche competencies and put them on a page or on SurveyMonkey and said please state which of the following are covered in your curriculum somewhat or not a lot somewhat or not at all it was that simple I don't know of anybody else that's done a survey like that I haven't seen one recently at least with nursing and we did a national survey a couple of national surveys but they're pretty detailed but I'm certainly willing to give those to you and you can take them apart or do what you want but I really like Kathy's idea of just taking the essentials and kind of asking about from that perspective last question about the survey real quick did you have the individual faculty list the courses in which they taught so if they taught several courses they actually listed the number I actually distributed the survey by course so I went through my course list wrote down who teaches it and so there were a couple of faculty that filled out two surveys but I went by course not by faculty name you're all pre-CCNE reporting right now that's why you're here what are the other areas besides genetics that are causing you tension yeah geriatric and there's so much genetics related to that too the national safety goals are part of that and geriatrics but I think faculty are more comfortable in those areas than the genetics content and that's where the problem comes so I teach pathophysiology I don't consider myself even a quarter of an expert but I probably have a better handle on it than a lot of my faculty do and I just think the word genetics just sends a bolt of fear up them I always say that genetics is the new organic chemistry and there are resources out there and we will talk about some of those in the afternoon and so that can help with that it won't solve the problems but there you know can help and of course my area has always been med surge so for me to help the OB or the farm person or you know although the mental health you know I can't specifically do that for them it's always been interesting to me though how the concepts apply everywhere and I like you teach pathophysiology in a grad program and I have one class on genetics but the class has every specialty from nurse anesthesia to master's entry students who aren't nurses it's crazy but you know the basic concepts the Mendelian concepts apply even in the adult onset disorders and in cancer I think there again though the Mendelian there more the students come to then all this multifactorial genomics stuff you know and so that's where their eyes are opened and that's where I think we need to focus even more than the Mendelian is someone in fact going to talk about the Surgeon General's health history I mention it and I do highlight it I don't go through it but you'll see the website and I will talk about how it can be used in the curriculum but it could be a really valuable teaching tool as well not just in your theory classes or didactic classes but in the clinical arena and we ask our students to do a three generation pedigree of their own family using that site and I always say look nurses have been doing genetics doing genetic nursing forever because we've always taken a health history but we have to start thinking more seriously at those adult onset disorders in there instead of just asking you about the things we think of as you know childhood onset because that's where the information comes from and any good clinician will tell you that you start like your compelling story it's all about the family history and you're already teaching your students what to do when there's a family history maybe not doing the pedigrees but Jeanne and I were talking about this last night when I get a family history for a family where there's a child with a cleft lip and palate I might get a very strong family history of diabetes and so what do I start talking about not the cleft lip and palate but you know are you getting glucose testing is your family physician aware of this or your family nurse practitioner aware of this or with cardiovascular disease you know getting blood pressure checks and think about this for your kids and cholesterol checks I mean so it's just really giving you another tool to look at it more comprehensively they don't have to sit down and talk about the inheritance patterns but if you saw a family history like that would you you know first refer back to whoever their pediatrician or family physician or nurse practitioner is but you talk about specialties as well wouldn't necessarily be a genetics referral but who's going to manage that care so that stuff's already being done you know that's kind of disgusting you know I think one of the main things is and you brought this up several times is that fear of the unknown you know I think for myself even teaching med surge that I feel like I don't have enough information to you know follow up on their questions and I think that for other faculty that's kind of the same thing so it's that not being so afraid of not necessarily knowing and helping them to figure out where their resources are and you know I gotta tell you the world has changed in a couple years I can stand in my class with my laptop and a student asks me a question I can just google it right there and get a pretty darn good website with the answer and that's why they see this they see that I don't know anything students are intimidated by a professor that they think knows everything so you can't let them think that's true but if you can help them figure out okay how am I going to find this out and then you can say well what is this google site okay it's NIH yeah I'll look at it you know but it's such a that's why we're all in it's jobs we do because it's nursing and education it's just so stimulating because it's not boring I taught anatomy for a couple years I gave that up that hasn't changed in a hundred thousand years so I just wanted to say that I because I lecture on genetics and I feel like I don't know anything about genetics so I my first lecture I thought let me just you know hey raise your hand if you remember fifth grade genetics and of course everybody did this and then but we started talking about it so it sort of became a discussion lecture as opposed to because they everybody knows a little bit so that was just a thought and the problem that I have and you've probably experienced this too is I just I just taught my genetics lecture in my patho class last week and I had to stay 45 minutes after class because of the line it was all people one woman has five children with severe disabilities do I think they could be related could that be Fregel X could that be mitochondrial disease I'm not a clinician right now I'm going to go see your person but everybody's got a family and everybody's got a family history and you know you see the wheel spinning in the class so that's great the more interactive you can make the class it really works yeah get you in bad situations too questions you don't know the answers so it's like we can't let them sit over there we don't know the answers to the questions but we have students in the classroom with their laptops on and so that's an opportunity for them to Google and get to what are these websites and is the NIH the one you wonder is it the guy with the website out of his grub whether it has a particular issue that is or trying to sell you a test trying to promote them so I think that's what I've been hearing is that yeah a lot of things none of us knows but that's not the point the point is making that link to what does it do what does it matter to people and the way that we take care of people and that that's something that we can all I think identify with pretty clearly Judy can you give me a second sure I just had a thought because Dr. Gutmacher had also mentioned this morning that this is a lifelong process none of us can remain experts right now because it's evolving at such a rapid rate and so if we identify the mechanisms for that to continue learning not only for us but for our students and the clinical practitioners I think we'll be much further headed as the EHRs and the decision making tools become available to our practitioners of the future Judy I'm right here now that sort of builds on exactly what I was going to say I think of some of my faculty colleagues like they have to know this they have to know that they have to know this they have to know that if you come to a realization that everything you teach them is no longer true by the time they graduate which is really true I mean I work in computers and I work in infertility and I work in genetics and those are three fields that you know jeez we're not using DASA anymore and so if you realize that and you realize that the only thing that you teach them of value