 Well, thank you everybody for having me. I actually appreciate the opportunity to come and meet all these nurses from suburban and have an opportunity to talk to all of you about nursing practice. I'm going to tell you a little bit more about myself, sort of the little fun fact, which I think is important when we're talking about a complex area about genomics. I'm a cancer nurse, obviously, working at the National Cancer Institute, so full disclosure. And I started very early on in my career working with breast cancer clinical trials. And I can tell you when I started, I knew zero, absolutely nothing about genetics and genomics. And I mutated myself, ultimately, into learning quite a bit about genetics and genomics. Because guess what? We started looking for a breast cancer susceptibility gene. And if you guys think back, now you know a little bit about how old I am. And indeed, I thought this was just going to be one more clinical trial that we were going to launch at our institution, the University of Michigan. And lo and behold, it became my passion. And I hope to give you a little bit of passion. But the take-home message as a nurse is that, let me tell you, if I can learn genetics and genomics, you can do it too. So it's not that hard. But I'm going to start with a few definitions just to make sure that we're all on the same page. And so genetics is the kinds of things that we think about as single gene disorders, the sorts of things that are associated with an inherited predisposition to different kinds of health conditions, be they cancer conditions, cardiac conditions, or the fat that I have, the short-fat Italian gene that runs in my family. But genomics is actually where we are today. This is where we begin to move out of the domain of the genetic specialist into the domain of all of the health care that we practice, where we have the interaction of all genetic variation. And we begin to think about the interaction with personal lifestyle factors, the environment, and cultural factors, and all of this combined together and how that's influencing health. And that's really where we are today. And this is where we're beginning to see so much movement into health care, that concept of translation of the evidence that we're learning into health care. So when you begin to think about, well, how does this influence my practice, right? You know, I'm working in the OR, or I'm working in the cardiovascular unit, or whatever it is that your area of practice is. How is it that this influences my practice? And that's what I really want to speak to a little bit today. And I'm going to start with thinking about, what are the major things that cause death in our country? And when you begin to look at this list, is there anything on this list that you see that you think may not have a component that has to do with genomics? And just so you know, I'm really asking a question, right? So I expect answers. Maybe I'll call in people. Do you think there's anything on this list? So now I can't hear anybody. Unintentional injury. Right, so unintentional injury. And in fact, it's quite interesting. The National Institutes of Health has sponsored workshops over the last few years about how people heal from traumatic injuries. So the fact that you may be clumsy, that's probably very complex. I actually think it's always quite remarkable that I can get across Wisconsin Avenue or get across old Georgetown road without getting hit by a car. And so there are many things that can influence the fact that you can have these injuries. But how we heal from these injuries actually may have a role in genomics. And we're in an environment where we have this emerging science and technology. And so this is very interesting. This is a slide from the Genome Institute. And the green bar actually represents, if I can get my arrow to work, the decrease in cost of how much it costs to actually sequence a genome. Whereas the white bar is Moore's Law. So I don't know how many of you are familiar with Moore's Law, but think about the progress in sort of computerized equipment and that sort of technology and the rapidity in which that has progressed. How many of you all have your little smartphone in your pocket and your little pad or tablet at home that you utilize compared to the giant desktops that we used to use? And you can see this acceleration in this ability to sequence a genome. And why are we interested in that? If you can reduce the cost and the goal that people are really aiming for is this concept of the $1,000 genome, that this would be something that could easily be translated into healthcare because there are many things that we do that cost $1,000 or more. And that this would reach the threshold in which we could begin to utilize this kind of technology. Now that said, the $1,000 genome is, it's like we have the technology but exactly how do we utilize it? Therein lies the challenge. That's an implications for all of us in practice. And I think that this little commentary, the $1,000 genome, the $100,000 analysis, it may even be a substantial more analysis. That's the challenge that we all face. But we do have that capacity to be very close to that $1,000 genome. To put it in perspective, if you think about doing a genetic test currently for say mutations in BRCA1 and BRCA2 associated with a predisposition to breast and ovarian cancer, the current cost can be over $2,000 to $3,000. And so that actually exceeds that for a single set of tests. We're also in an environment where we're moving these tests rapidly in directly to the consumer without the interface of the healthcare provider. And these are all kinds of varied tests. They can be anything from, companies that offer testing about what your ethnic heritage may be, to anything from risk assessment to different kinds of genetic conditions or what kinds of food you should eat or who you should date or a whole host of things. And they can be very inexpensive. You can order them off the internet or just call somebody up on the phone. A lot of them are saliva tests. And this moves outside of the realm of the healthcare provider and actually utilizing these tests. And it's interesting. We don't know a lot about how the public actually thinks about these tests, but there was an interesting study actually done looking at Facebook users. So of course you've got some people who are sort of interfacing in that public domain, if you will, because they're using Facebook. And they're very interested, right? 64% indicated that they actually would consider using a personalized genetic test that they would actually order. But there was a large number of people who thought that the results of some of these tests indicated that this was the diagnosis of a disease. So it sort of points to the fact that there are a lot of challenges in what people actually interpret from this information. And that they would consult their physician. I'd challenge you that there's a number of healthcare providers that people could consult with, not just their physician, it could be their nurse practitioner, it could be their, if they do see genetics, it could be a genetic counselor, it could be a PA, it could be any number of healthcare providers. And what I would say to you is ask yourself the question if somebody came to you with one of those reports, would you know what to do with the information? Would you know where to go to find out what to do with the information? Would you know who to refer somebody to who could actually answer the questions that your patient has? And we're at this point where we're using more and more of this genomic analysis. And in fact, you know, whole genome analysis is certainly all the rage, certainly in a wide range of research studies. And you can even order some of these clinically where you can order a whole exome sequence clinically for evaluation of given conditions, certainly something that happens in the auspices often of a genetics clinic. But it brings to light these issues of incidental findings. I'm actually intrigued in the dialogue in genetics about incidental findings because in healthcare in general, we're very accustomed to dealing with incidental findings. You do a CAT scan and you're doing a CAT scan for a given indication and you find something completely different that needs to be addressed. Those are things that we actually deal with. The distinction here is the magnitude and the scope of what you could find. Things that you may not know exactly what to do with, things that could have significant social and personal impact like what if you learned that you were at risk of having developing Alzheimer's, for example, and what kinds of things would be reported and how you would do that and the true scope of that. And how do you consent people to actually have a test like this? And so the magnitude is something that is certainly outside the realm and there's been sort of increasingly a number of organizations beginning to grapple with how do we actually deal with this? And I challenge that nursing needs to be at the table as part of the healthcare team and really thinking through this because they certainly are a big component of the care. And from a research perspective, you need to begin to think about, you know, genomic DNA is very, very stable. I spend a lot of my time chasing down tissue blocks in pathology laboratories. And we're in an environment where we do have broad data sharing of samples, of data, and we need to be thinking about do we have control of downstream use once that information or that sample is disseminated to other groups? And do we really have the capacity to keep this information private in the way that we've classically thought about it? And I've sort of mentioned the incidental findings but our duty also to re-contact people and the implications of what if your patient or research subject was deceased? And this had implications for family members and how exactly do we engage in this? These are very complex issues and the point that I bring to you all is to begin to think about how that impacts your practice either whether you're interfacing with people doing research or you're sitting on your own institutional IRB or you're doing your own research, you need to begin to think about some of these issues. I'll tell you that there is a sort of a disconnect between what the healthcare community begins to think about what kinds of things should be reported as far as incidental findings and some of the data that we're beginning to garner from our consumers about whether they feel they would want that information. And in fact, a large number of people are saying that they want as much information as possible even if that information is not something that's actionable or would change healthcare management. And so it's an intriguing thing it requires certainly far more exploration for us to really understand the scope of this but it begins to sort of open the door of what we need to consider. And one of the first things I think we need to consider is who's our patient? I've certainly been in the room where as a nurse your patient is your patient and the family. But in fact, when you begin to think about genomics and genomic information, it can be information that does not just impact your patient it impacts the family, it impacts potentially communities it could be an entire population of people. And we need to begin to rethink who it is that we're actually thinking about and how we begin to think about the healthcare implications of the movement and translation of genomics into healthcare across the entire lifespan. And so to do that, I'm gonna sort of walk us through a few examples. I'm gonna pull in a couple of clinical examples and I'll just warn you, I'm a cancer person cancer examples for the most part but I'm gonna try and give you a flavor of thinking about the use of genomic information from preconception to after end of life and to get you thinking about well what is this got to do with my own practice as a nurse, as a framework. And I'm gonna go through a little bit of the evidence that we have about what nurses are reporting to us that they know and these are studies that I have been involved in with my colleague Gene Jenkins and others. And so there's a few of these studies that I think are important to include. One is our national nursing workforce study that was done in collaboration with the American Nurses Association. We had 619 people who responded to that survey that obviously as ascertainment bias, right? People who are responding to a survey at nursingworld.org are people who have an interest in this topic. We then went to the House of Delegates which is more of a nursing leadership cohort to see if there are differences in that group. From our national nursing workforce studies we saw we didn't have enough ethnic diversity reflecting the true scope of what we know is associated with the nursing workforce. So we've done a study in collaboration with the National Coalition of Ethnic Minority Nurse Associations. And our largest project is our MINK project which is a method for introducing new competency into nursing practice. This is a study of 20 magnet hospitals where I'm reporting data from that and we have two control hospitals. This is a year long initiative. And then because we are quite interested in sort of the leadership, we've pulled out from our MINK study the administrators as a separate cohort just to begin to look at that. So I'm gonna use those studies to sort of give you a framework of sort of what do we know as we go through sort of the healthcare continuum. So I'm gonna start with sort of preconception and prenatal genetics and talk about this. And certainly I know we have a genetic counselor in the room. That's one of the areas where they really started an Excel ad, I'm always like I know who to call. But you begin to think about testing for carrier status in that circumstance, especially when you begin to think about recessive disorders. And then prenatal testing, being able to do testing as a component of thinking about people who may have risks for certain kinds of conditions in their trial or their fetus because either advanced maternal age or family histories of certain kinds of conditions or particular ethnic backgrounds. The Genome Institute in collaboration with others has done these nice sort of posters called Do You Know? And I don't know how many of you have seen them but there are nice things to utilize on a unit-based education initiative. And this particular Do You Know poster is about Tay-Sachs disease. And it's just sort of a way to begin to think about those kinds of implications and how you may use this information. Newborn screening is probably the area where we have the largest use of genomics. And that's a public health initiative, right? Newborn screening happens in every state. Now the scope of the test will be different but there are approximately four million newborns who are screened in this country annually for different kinds of health conditions. They are done with that little heel blood spot and it can result in a wide range of different diagnoses as a result of those particular tests. And there is a committee used to be called the Secretary's Advisory Committee on Heritable Disorders in Newborn and Children and now it's the discretionary advisory committee and I don't know what that's all about but they changed their name. And that particular committee is associated with really thinking about what's the level of evidence to recommend that a particular test be integrated into the newborn screening and that the benefits would outweigh the harms and that there will be the capacity within the state to actually deal with the consequences of that particular test. This is the kind of thing where it's certainly family members can also derive benefit from this information because it may not necessarily benefit the newborn, although it certainly is intended to do that but it could also benefit the family members where there may have been something going on in a family that people were uncertain about and it could facilitate some of the assessments that need to go on, it could facilitate future reproductive decision making in certain families. So there is a wide range of applications for newborn screening. Now newborn screening is not perfect. Newborn screening can have false positive results, false negative results or ambiguous results and that's where the assistance of the genetic specialist and really having partnership with all members of the healthcare team become very, very important. And then there's an interesting thing about, well what happens to the dried blood spot? I sort of feel like all of us should go back and watch that movie Jurassic Park with the rebuilding of the dinosaurs because the extraordinary capacity of even the smallest amount of a biospecimen and the capacity of what we can do with it and how valuable those dried blood spots are. And I'd ask you in the state of Maryland which was where we are now, what happens to dried blood spots in this state? Do you know? And what would you answer to somebody who asked you that question? Could I have my baby's dried blood spot to take home and maybe do other testing on it? An interesting question. And so we're at this point though where certainly on a research basis people are beginning to explore the concepts of do we begin to think about integrating whole genome analysis as part of newborn screening and how would we handle that information? What would we do and how would we consent people? Is it really something we should even consider? And so that's really the infancy of exploration but it's something that's really an intriguing concept and one that we don't actually have an answer for. So let's move on to risk assessment. And so here we are, cancer again. But think about risk assessment, the value of risk assessment. Nurses are all about health prevention, health promotion, trying to reduce risks, healthy eating, the kinds of sort of core fundamentals that drive some of what we do in our profession. And the ability to identify people who may have an inherited predisposition to serious cancer illness and be able to intervene to try to ameliorate that risk is an intriguing concept that actually has been moved widely out in some cancers like breast cancer, colon cancer, thyroid cancer and so forth to be able to be truly effective. But of course the key is being able to find those people. And that's one of the big components is how do you find those people? And one of the simplest ways to find those people is to take a family history. So what do we know about what people in our profession do with family history? And so the very first question we asked was in the past three months, in nurses who actually are actively seeing patients, how often were you rarely or never assessing a family history? So three months, did you rarely or never assess a family history? And it's astounding to see that the majority of nurses in our profession do not assess family history. They rarely or never assessed a family history. When you then asked if you did assess a family history, did you assess the age of diagnosis? One of the key indicators for what it is that we should be looking for to identify someone who may have an inherited susceptibility, that could be anything from cardiovascular disease to cancer to other conditions. Is it occurring earlier than when it would be expected in the general population? And the answer to that is there's a large segment of our group who aren't doing that. One of the key and important questions. When they took a family history, did they assess both maternal and paternal lineages? Anecdotally, I can tell you working in breast cancer almost my entire career, that it's astounding to me that even at this point, I have both patients and healthcare providers who say that they never assessed the paternal family history. And there's a robust evidence that that continues to persist. And people who've actually studied that. And indeed, we see a large segment in anywhere from 50 to 75 or more percent of people who are not assessing maternal and paternal lineages that have equal weight when you begin to think about genetics. But what is intriguing is that a large segment of the nursing population feels this is important. And so this is really good because one of the first steps is thinking that this is a value to your practice. And to think about then how do we fix what is a challenge here? When we kind of drill down into this challenge and we say, are you confident in doing any of this stuff? And the answer is that more than half of the people say, no, I'm not, I really don't have confidence. That says we need to do more from an educational perspective to get people up to speed. And what's even more worrisome is that 64% of people in our MINK study said that they don't actually know what patients, if they did the family history, that they would refer. I'll actually tell you, they also don't know who to refer to. So key points of opportunities to actually intervene educationally, put policies in place to think about doing this. I will say that one thing that's important and is one of the foundational concepts of our MINK project is that you can't say, take a family history, do all of this stuff, refer, and have no place in your electronic health record to document it. And so our MINK project includes both educators and administrators and the dyads that are leading this because those are key concepts that everybody needs to understand because the person who's making those decisions has to understand the implications for this. So I wanna tell you a little story. And this is a story that's close to home here at the hospital that we're in because it was at the time, the Naval Hospital, it's at Walter Reed. It's a colleague of mine who's given me permission to use her case. Her name is Barb Ganster. She's a case manager in the Breast Care Center over at the Naval Hospital, now Walter Reed. And she was taught how to take family histories as part of my work in that particular program of integrating genetics into their breast center. She was taught how to identify the key red flags. She was taught how to identify a referral. And so she went in and the particular patient that she was seeing had come with someone who was a breast cancer survivor, her support person. She did the family history, blah, blah, blah, took all this history, came out of the room, and the support person came out of the room and said, oh, don't go yet, I have a question. And her question was, why did you ask about ethnicity? And why did you specifically ask about, was there any particular heritage of Ashkenazi Jewish heritage, which is Eastern European Jewish heritage? And why did you assess the father's family history? And then she said, you know, I'm a breast cancer survivor. I've been a survivor for many years now. No one ever told me that my father's family history of breast cancer was important. No one ever told me that my Ashkenazi Jewish heritage was important. And so Barb said, well, I think you need to see a genetic specialist and where do you live? And she gave her a referral. And I can tell you that Barb is someone who is like tele-calzone. Anything that's significant, she calls me on the phone. Right, well, Barb never called me on the phone about this patient, never. This was so inconsequential. It was just, you know, I'm busy, I got other stuff to do, right? Never came up. Well, I can tell you that several months later, Barb called me on the phone in a panic because she heard from this woman who went to the genetic specialist, who got a genetic test, who found out that she had a gene mutation, who decided to have her ovaries removed, had her ovaries removed, and it just heard from her surgeon with a pathology that said she had pre-cancerous cells found on her specimen. So what's the take-home message, right? There are so many people involved in this person's care. And it's the concept of interprofessional care. It's what we do, right? But there was one person who made a difference and it wasn't even her patient. And all of us know, right? As a physician, as a nurse, whatever you are, right? They're like, oh, I have a question. It doesn't have to be your patient. Do you know who you'd refer to? Do you know what your resources are? Do you know what the red flags are? Just sort of core key concepts. Barb didn't take a big, full, fancy three-generation pedigree. She took enough to know that this person needed to see somebody and she knew how to make a referral. And it's the single most powerful thing in her practice that she said I saw something and, oh my god, it's made such a huge difference. Now, does it make a big difference in this patient? I would argue the answer to that is yes. Long-term health outcomes will tell us. But right now at face value, it appears she made a huge difference. And she didn't do that much. And she didn't take that much time. So what about screening, right? In cancer, we certainly do a lot of screening tests. There are certainly screening tests for other kinds of conditions. Anything from diabetes, cardiovascular disease, and so forth. And the scope of screening tests can be guided based on genomic information. What would you do differently if you knew that somebody was at an increased risk for a particular condition? And the use of genomic information to supplement screening tests. So in cancer, for example, we may use risk models, like the breast cancer risk assessment tool. Also known as the GAL model, where they've been studying being able to look at different kinds of genetic variations called single nucleotide polymorphisms and whether that can add an additional piece of information that could be informative about people's risk. Or could we develop tests like tests that look for genetic variation in the stool that could be indicative of an indication of a colon polyp or colon cancer? Colon cancer is actually an extraordinary disease that can be prevented. But getting people to do the colonoscopy, and people aren't afraid of the colonoscopy, they're afraid of the prep. So could you come up with something that people would actually do is sort of the step that we're kind of aiming for? And if you're in cancer, but certainly this is moving out into other diseases, can you use genomic information to actually help you get a more accurate diagnosis, to establish a prognosis? In cancer, we're using tumor profiling to guide things. And breast cancer, for example, they're using tumor profiling in certain kinds of breast cancer to guide whether or not people may benefit from additional therapy to reduce their risk of a recurrence. And this is something that, as nurses, we've known all along that, oh, goodness, why did this person recur when stage for stage they were the same as the person sitting next to them? And so why is it that this person recurred in this one didn't when they had an overall good prognosis? So this adds an additional piece of information that in certain circumstances can be informative in terms of health care management. And then we're using more and more targeted therapies in cancer. And this is actually a PET scan. So think about PET scans and glucose metabolism and sort of the red and the green and yellow or sort of these abnormalities. And this is a person who has metastatic melanoma. And just to remind you that in the brain and the bladder, you'll see some of that green and yellow because that's a natural component of that function. And we're looking at before treatment with widely disseminated disease to during treatment and the rapidity of the response when you're actually targeting a particular genetic defect associated with that person's cancer. And we're in this environment, and this is something that I'd encourage you to sort of upload, where we have a huge range and platform of targeted therapies. And they can be from all sorts of diseases in cancer, from lung cancer to thyroid cancer, to breast and colon malignancies and so forth. And the Genome Institute hosted a New England Journal of Medicine series where they've gone through a wide range of different health conditions and provided evidence reviews. All of those papers are on genome.gov and are open access. So you can go in and actually upload these papers and read them. They're very useful platform to sort of begin to get you up to speed. And I have a mutation in my technology gene and let me tell you, if I can understand these papers, you can understand them, so. And what about pharmacogenomics, right? Pharmacogenomics is sort of using genetic variation to begin to look at would somebody respond the same way to different treatments? Would they be able to absorb the medicine in the same way? Do they metabolize it in the same way? Would the medicine work in the same way? And in fact, we know that there are variations in that. And then in addition to the target, which I sort of mentioned before, are there other things that you take, sort of the classic concept of contraindications that could change some of this? But that it's based on the genetic underpinning of how a drug is metabolized. And we begin to look at that and we think about phenotype. That's sort of the observable trait, if you will, so that if there are different genetic variations, you can see a wide range of different variations in phenotype in terms of drug metabolism overall, where you can have limited responses to recommended doses. You can have what's expected and begin to think about, how do we do drug discovery? We take a bunch of people, we do a bunch of studies, we may randomize them, and we say for most people, this is what works. And we've all seen somebody who took a particular medication and it didn't work, somebody who took a serious toxicity and is in your emergency department upstairs because of that toxicity. And so this wide range is what we're after. And think about the component of healthcare savings that could be derived if we could understand this complex phenotype a little bit better because then the trial and error approach may perhaps be diminished to a certain degree. And I really focus on inhibitors and inducers because nurses are a key component of drug administration. If you're in an advanced practice role, you may actually be ordering drugs. But nurses are a big driver also in terms of symptom management, talking to people about their medication history. What else are you taking? What else are you doing? You know, the sort of litany of vitamins and supplements that people may or may not take and how does that influence medications that they may be on for particular conditions? And you begin to think about symptom management and oncology, I can tell you, the oncology nurses are the drivers of symptom management. And so those kinds of things can have huge implications. Think about the fact that in breast cancer, for example, one of the anti-estrogens that's commonly used is tamoxifen. Tamoxifen is predominantly a pro-drug so it needs to be metabolized into its active form to actually do its job. That active form is a doxifen. And that happens through a complex mechanism but one of the big driving genes is CYP2D6. And what happens with people who take anti-estrogens? They get hot flashes. So what do you do? Well, you can't turn around and give somebody who's taking an anti-estrogen to treat their estrogen, receptive, positive breast cancer. Estrogen, right? You're sort of shooting yourself in the foot. And so we give them SSRIs, low dose anti-depressants. But some of those can be inhibitors of CYP2D6. And so those are the kinds of things that we need to begin to understand. And it's a complex area, right? If you never had pharmacogenomics when you learn pharmacology, this is the kind of thing that is a complex area to begin to understand. And the evidence base that continues to emerge and the complexity associated with it. But there are a number of excellent resources to help people get up to speed, including those developed by our pharmacy colleagues like Farm Gen Ed, where there's a lot of online resources to actually help people learn more. And I'm gonna tell you a story and this is not a cancer story. This is a family story. Kind of, if you're paying attention, you'll see there's me. This would be my dad. See the bald head? That's the, we have a lot of similarities. This is my brother with the beard. That's why we all look the same. So my father's in a wheelchair. And I'll say that up until his dying day was cognitively intact. And when he got his wheelchair, because he ended up being a bilateral amputee, God forbid his physicians, because boy, he was zooming all over the place, you know, kind of doing stuff. But so my father was a diabetic, an incidental pickup, incidental finding, right? On a physical for life insurance in his 30s. And he was very robust in terms of following his diet, but diabetes catches up with you in terms of vascular disease. And indeed it did in his case. And he had an MI, and then he developed lower extremity vascular disease. And after multiple operations and multiple complications, he ended up with bilateral amputations. But what's the story here? So the story is, is that he started at his local community hospital because old Italian man, right? This is where I get my care. I'm never going anyplace else. I was born here. And he had a terrible complication with his first bypass surgery. Ended up in the ICU. Had no pain relief from the morphine that they gave him. Reason for the transfer in the ICU was respiratory depression, right? Then he decided, you know, I think I need to go someplace else. So we went to the other major medical center in the region where he lived. And he ended up having a few additional operations at that healthcare facility. And after the first incident, it became clear to me because he had difficulty with pain medication as an outpatient in managing his vascular disease for quite a long time. And it was difficult to know what that was about. But with his hospitalization and his surgery, it became clear to me that this was somebody who really was either a poor metabolizer or had some other kind of underlying genetic component that was not allowing him to metabolize morphine in the same way as other people. And that he was getting no pain relief but he was getting associated respiratory toxicities. So long story short, he ultimately decided I'm going to the big academic center in the sky and we went to the major academic program there and he had more surgeries there. In the length of his illness, over two years he had 15 operations. He had 15 trips to the ICU. And let me tell you, I am no shrinking violet, right? There were 14 trips that I made to the anesthesiologist to the surgeon. I'm very resourceful. I can find your recovery room. I can talk to those nurses just like anybody else. And not a single person could understand that morphine was not the drug for him and the reason for it. And that stock answer was, well, it should work. Works on most people, right? So it's a fascinating thing, right? It's because people just didn't understand the underlying basis and they don't see that relevance and getting people to understand some of that could have saved bazillions of dollars and could have certainly taken care of many trips to the ICU and the stress that was associated with my other family members who really didn't understand what was going on despite my best effort to communicate because they just weren't listening. ICU. And there's more than that that runs in a family, right? Because my brother is clumsy. So somebody said something about clumsiness early on. And my brother is clumsy and he fell and he broke some ribs and he got no pain relief from the medication. And what was his first thing that's calling me up and he's going, hey, do you think that this thing that dad had runs in families? And do you think I could have the same thing? It's not like I'm gonna go out and get another pain. I'm just gonna live with it. But do you think this could be it? What if I have to have an operation someday? And what's the answer to that? Yes, he answers yes, absolutely. And I'll just say one little fun fact. So there's my little brother with a beard. Here's my dad. You don't see my uncle there, this is his wife. My uncle had his first MI before the age of 50, had diabetes. My dad had diabetes. My brother's a pre-diabetic. What do you think my risk is for diabetes? I spent the last two years really focusing on my weight because when I heard my brother had the pre-diabetes, my first reaction was one that was very mature. So I'm not actually thin yet, but I do wanna look like some movie star someday. So there you go. So we're at this cusp of the quest for personalized healthcare. And you can call it what you want, right? So some people call it personalized medicine. I think it's broader than just medicine. I think it's healthcare in general. You can call it precision medicine. I don't care what you call it. It's the same concept. Can we do better by integrating genomic information into the healthcare that we deliver? And I think that the point of that is we may be able to do that. It's getting us up to speed to be able to integrate it in a safe and effective and appropriate manner. So what is it that nurses need to know? And the answer to that is we actually believe we know what nurses need to know and we establish competencies that are applicable to all nurses. It doesn't matter what your academic preparation is, where you work or what you do. These are competencies for all nurses. These are not competencies for genetic specialists. I don't need every nurse to be a genetic specialist. I'd need nurses who are going to be able to do their work to the best that they're able in the area that they are, but be able to recognize when genomic information has relevance to their practice and to utilize it when it's appropriate. One of the first things we heard from educators was, well, if we're gonna try and teach to this, we don't know how to teach to this, right? Nobody's ahead of the game here. And so we establish specific areas of knowledge that support the competencies and outcome indicators that are suggestions of what kinds of things you could measure to see if somebody was achieving a competency. And then the next thing we heard is, well, we need to level these for advanced practice. And so that work has been done by another team of people and those have also been published. So we have tried to address the question of, well, what is it that I need to know? These are open access documents and I'd encourage you to upload them because they're very useful and valuable in terms of thinking about your own work. Now, what do we know objectively about what people say? And it's not a surprise. The proportion of nurses overall in our major studies are who think that their amount of knowledge of the genetics of common diseases, excellent or very good is really very poor, right? The majority of people don't know. We thought maybe our cancer nurses may know more. Well, they know maybe a little more. Nobody's winning the game here. We don't know enough. And what's informative for us is that even with our ascertainment bias from our National Nursing Workforce study with ANA, we still have a lot of people who don't know about the competencies and aren't utilizing them. In our mean study, we calculated a total knowledge score, taking some core concepts on simple things like family history that could be integrated into anybody's practice and sort of beginning to look at that because I would say in my practice, I have never met a nurse who can't tell me about sickle cell and recessive transmission. And so if you tell me you don't know anything about genetics, I would say, oh, yeah, you do, you know, a little bit. You're just not recognizing it as such. And so is there a way for us to tease that out? And so what we did was we, you know, very complicated, we picked 12 questions. So the maximum score was 12. And then we began to look at who was able to get those things right. And we found that in general, people actually do know a little bit more than they think they do because on average, it's between eight and nine out of 12, which was not as bad as you'd think when people self-rate their scores is so low. Now, is this really a valid measure? And the answer to that is no, but it gives us a snapshot to begin to think about it. But what we did see is that people do recognize that some of this has relevance to common health conditions like family history and cardiovascular disease. But when you drill down any ass and what it's associated with, they're getting the answer wrong. I think it could be due to a single gene variant. And so some of that specificity is where we need to build. So what is it that we need to do? Well, you know, oh my God, she's putting up something about a theoretical framework. I know, go ahead, ground, that's okay. But I think it's important to think about how do you take something that's so complex and think about how you can move this out in a way that's gonna be effective? And some of that has to do with the healthcare system that people work in. Some of it has to do with knowledge. Some of it has to do with what they think about this information. And then once you get people there, they have to be supported to be able to learn more and to adopt it. And so one of the first things are attitudes. And overwhelmingly, people think this is really important. They just don't think they know anything about it. And so that's the first hurdle is that people think this is important. And what's interesting though, is that when you say, do you think that senior staff, and we've asked people, who do you think senior staff is? Well, those are line managers, right? Your head nurse, your CNS, or whatever your practice framework is at your institution, do they think it's important? And the answer to that is no, they don't think that senior leadership thinks it's important. And so that's actually interesting because then when you pull out your administrators and they say, well, from your perspective, your leadership, do they think it's important? And the answer is no. So everybody thinks that everybody up above them doesn't think it's important. And as a consequence, that influences some of what people are doing. But here's the most interesting thing. Would they attend a genetics course on their own time? And overwhelmingly, we're seeing that people would have interest in doing that. Now, what people say they think they might do on what they do are always two different things, right? But I'd love to find somebody who'd fund me to take that out for a spin because I'd love to see if we can make it go. We have a lot of clues about what people need to know. We know that people think that people are gonna be discriminated against and that they don't know anything about the Genetic Information and Discrimination Act. We know that people think this is really gonna make people really crazy and frantic and anxious. And in fact, most of the behavioral studies say that that's not the case. They don't think it's reimbursable and it's too costly, but in fact, I've showed you the evidence that this is going down in costs. And a lot of insurers when there's a clinical indication are covering the costs. And so there are lots of opportunities for key things that we can do to influence. We know that education in an academic setting makes a difference. And so we looked at total knowledge score based on level of education from doctorate all the way down to diploma. And we did see that there is a trend that the higher your level of education, even if you're not studying genetics like I did, the more likely you are to have an understanding and to get some of these questions right. So education potentially can make a difference in sort of improving some of the competency in our profession. And we know that when we look at after you've gotten your licensure, if you then went to a genetics course, we do see some differences in people's knowledge about the competencies in what they're reporting about their self-professed knowledge about genetics. And so this is your prior genetics education, no genetics education. This is from our MINK study. We had a lot of statistical power and all of these are p-values that were significant and younger nurses, right. Think about it now, right. Our science teachers in high school have embraced genetics. We've got students going into the academic programs who are really eager and open to genetics and technology and all of this sort of thing. And so we need to capitalize on that. And we've seen that the younger people are, the more they're sort of embracing some of this. It's really our challenge to sort of step up to the plate. There are a lot of policy implications and I can't go through them all here. I can tell you that in our MINK project, people are working drastically on policy work that can be associated with their institutional regulatory bodies like their IRB. It can be setting up competencies on an institution-wide basis. Pathways for referrals, really documenting what it is that you need to do so that people have a place to go to look to see, well, what do I do? I found something and I need to refer. Some nurses are saying, well, they don't even know if it's something that they're supposed to do to refer. So what do you do in that situation? Just pretend it didn't happen. People are really challenged about how you document family history because it's not been well integrated into electronic health records and we have groups working about that. So there are lots of strategies that our MINK hospitals are working on. And I wanna bring home the point that there is no one group that's sort of ahead of the game here. Everybody works together for the benefit of the patients. This is an interprofessional problem. This is something that we should be thinking about how we can partner with our interprofessional colleagues to move this forward better from an educational perspective, from a healthcare delivery perspective, from the way we begin to think about our quality initiatives at our institution, the evidence that we need. And there's a lot of things about data, data, data, data, data. I will say that I'm delighted that our colleagues from the National Institute of Nursing Research have really embraced genomics very early on with their summer of genetics institute and other initiatives and recently have partnered to work with us on a state of the science initiative to sort of define a nursing research blueprint to sort of guide some of this evidence space. And I'll say, I don't wanna get into the details. You can certainly read the paper about that, but we had an excellent advisory panel that was pulled together of experts in the field. And this was interdisciplinary. We had colleagues from other professions engaged in this effort. And then we sent our blueprint out for public comments. So we tried to get as much input as we could. And there are a couple of things that they said. One is our definition of the client or the patient should be as broad as possible. And that we need to do research focused on the client, but also focused on the context in which healthcare is delivered. And there are key cross-cutting themes. And in August of this year, the National Institute of Nursing Research is sponsoring another workshop to really begin to drill this down, to begin to even refine the blueprint a little further. And it is available both on genome.gov and on the NINR website where you can go in and actually see the blueprint itself to help get your thinking going about research that you may be doing in your area or things you may consider. So we have a lot of challenges and opportunities, not the least of which in today's fiscal climate is funding, but I think it's an extraordinary opportunity to really effect change in healthcare. And there are lots of resources to help you. We just finished a Journal of Nursing Scholarship Genomics Special Issue, which is all open access, and we're grateful to Susan Genaro and Wiley Publishers for actually doing that with us. My colleague Jean Jenkins has been working with a wide range of health professionals to establish the Genetics and Genomics Competency Center for Education because we all know we can do a Google search and find 13,000 hits for genomics, but which ones are accurate and current and reliable resources for you to use. And right now they have nurses, genetic counselors, PAs, the pharmacists are working, and I understand our physician colleagues are beginning to think about how they can build their platform of resources into this infrastructure. The CDC has excellent resources on their public health genomic site, including a listserv to keep you up on the current literature. And if you wanna join our competency listserv, which I moderate, email me, and I'm happy to put you on it. It's a way to disseminate current resources. I'm gonna also say that we have a website that's under development, which is an online unfolding case studies because everybody says, well, I learned best by seeing patients who had this. And so this is filmed with real actors. It's unfolding, pick your pathway, pick your disease, pick your condition that you wanna learn more about. And in fact, today we're filming some of those cases across the street, so if you wanna see real actors, they'll be the people wandering around lost. Probably the resource I'd say, if you picked anything to do right now, I would go to the Smithsonian and see the Smithsonian Collaborative Exhibit with the Genome Institute. It's absolutely fabulous. They worked very hard on this. It's fun, it's exciting, it's interactive, and it's a fabulous way for you to learn more about genetics and sort of whet your appetite. At a hospital-based level, get a field trip, going is all I can say. It's really worth it, and it's a great platform to get you thinking about learning more. And then in October, the International Society of Nurses and Genetics, where you'll see people from all over the world coming to talk about their studies and their evidence, will be here in Bethesda, just down the street, and I'd encourage you to take the opportunity to attend that meeting, because it's an extraordinary chance if you're in this particular area. It's one of the greatest nursing genetic meetings that you could attend. So what's a take-home message? What does genetics have to do with your practice? Only you can answer that, right? I don't know what you do. And utilize your leadership to begin to think about how you can be a change agent in your own environment. Recognize your opportunities. Are there policies that need to be changed? Are there things we need to do differently? How do we creatively think about, on an institutional level, what we do and how we can move it forward? And how can we leverage the resources that we have to move this forward? I can tell you, the things that our main hospitals have come up with to move this out are absolutely extraordinary. And people in the trenches, you've got fabulous ideas. So I'd encourage you to sort of jump on the bandwagon and go forth. So I'm happy to entertain any questions. I have a question about the Amazon. While you're thinking, when you go to the Smithsonian, it's room 23, and I guess we put it there because there are 23 rooms on it. Is there a comment for... Yeah, I am gonna do that because I know she's filming it. Yeah, so the comment is really about the role that nurses can play in facilitating decision-making about the referral to genetic services. And I absolutely wholeheartedly agree that nurses can play a role in that and that we do see people who are referred who don't go and don't come. And some of that is indeed misconceptions. And I'd encourage you to partner with your genetics referral teams because they're all enthusiastic to partner with you and work with you to think about ways that you can help and make sure that you as the nurse is making that referral know what that's about. Who is a genetic counselor? What do they do? What role do they play? What would happen in a counseling appointment? People have all kinds of misconceptions about what that is about. And there are unique and distinctive opportunities for nurses in that realm. So the question is about the American College of Medical Genetics guidance on what kinds of incidental findings reach the threshold of evidence that they should be reported out. And Anne Cashin's comment is about the number that should be reported out. And who does whole exome sequencing? It's important to understand so the acronym is ACMG and it's actually a very important paper for you to sort of read through. But this is clinical exome sequencing. It's done predominantly in environments where you're dealing with a genetic healthcare professionals really trying to diagnose something and they don't know what it is, that it didn't hit any of the things that would be classic and they're trying to do some discovery about what could be the underlying cause of a particular condition. There are challenges in the literature coming out in regards to this because how do the laboratories report that out? But there are a number of laboratories that you can order including one right here down the street where you can order a whole exome sequence. And so it can be done but it is often done with the counseling and support of the genetic healthcare professional. But this is a challenge that will continue to emerge isn't really the right thing but will continue to translate itself into the general healthcare community as we identify people who may not reach the classic phenotype, right? That observable trait associated with a condition but you found something on a particular genetic test that warns some kind of interaction. One of the co-authors on that was our very own rescue center who runs the clinic C study here in the desert and I mean many of you know that I'm a participant and the reason I think he did it is he's sitting over there finding things there's a big fight that's going on what you should do with it so if you get into it. Are there other comments or questions? Well, we'll be on time I'm sure that Alzon would be happiest to pick around and answer any individual questions. All right, thank you. It was a nice presentation to have. Thank you. Thank you.