Nursing Care Plans Nursing Diagnosis And Intervention

kathleen calzone:well, thank you, everybody, for having me. i actually appreciate the opportunity to comeand meet all these nurses from suburban, and have an opportunity to talk to all of youabout nursing practice. i'm going to tell you a little bit about -- more about myself,sort of the little fun fact, which i think is important when we're talking about a complexarea about genomics. i'm a cancer nurse, obviously, working atthe national cancer institute, so full disclosure. and i started very early on in my career workingwith 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 learningquite a bit about genetics and genomics because

guess what? we started looking for a breastcancer susceptibility gene, and if you guys think back, now you know a little bit abouthow old i am. and indeed, i thought this was just going to be one more clinical trial thatwe were going to launch at our institution, the university of michigan, and, low and behold,it became my passion and i hope to give you a little bit of passion. but the take-homemessage as a nurse is that, let me tell you, if i can learn genetics and genomics, youcan do it too, so it's not that hard. but i'm going to start with a few definitionsjust to make sure that we're all on the same page. and so genetics is the kinds of thingswe think about as single gene disorders; the sorts of things that are associated with,you know, an inherited predisposition to different

kinds of health conditions be they cancerconditions, cardiac conditions, or, you know, the fact that, you know, i have the short,fat italian gene that runs in my family. but genomics is actually where we are today. thisis where we begin to move out of the domain of the genetic specialist into the domainof all of the health care that we practice, where we have the interaction of all geneticvariation, and we begin to think about the interaction with personal lifestyle factors,the environment, and cultural factors, and all of those combined together and how that'sinfluencing health. and that's really where we are today, and this is where we're beginningto see so much movement into health care and that concept of translation of the evidencethat we're learning into health care.

so when you begin to think about, well, howdoes this influence my practice, right? you know, i'm working in the or, or i'm workingin the cardiovascular unit, or whatever it is that your area of practice is, how is itthat this influences my practice? and that's what i really want to speak to a little bittoday, and i'm going to start with thinking about what are the major things that causedeath in our country? and when you begin to look at this list, is there anything on thislist that you see that you think may not have a component that has to do with genomics? just so you know, i'm really asking a question,right? so, i expect answers. [laughs] maybe i'll call on people.

do you think there's anything on this list? so now i can't hear anybody. male speaker:unintentional injury. kathleen calzone:right, so unintentional injury, and, in fact, is quite interesting: the national instituteof health has sponsored workshops over the last few years about how people heal fromtraumatic injuries. so the fact that you may be clumsy, hmm, you know, that's probablyvery complex. i actually think it's always quite remarkable that i can get across wisconsinavenue or get across old georgetown road without getting hit by a car. and so there are manythings that can influence the fact that you

can have these injuries, but how we heal fromthese injuries actually may have a role in genomics. and we're in an environment where we havethis emerging science and technology, and so this is very interesting. this is a slidefrom the genome institute, and the green bar actually represents -- if i can get my arrowto work -- the decrease in cost of how much it costs to actually sequence a genome, whereasthe white bar is moore's law. so i don't know how many of you are familiar with moore'slaw, but think about the progress in sort of computerized equipment and that sort oftechnology and the rapidity in which that has progressed, right? you know, how manyof you all have your little smartphone in

your pocket, and your little pad or tabletat home that you utilize compared to the giant desktops that we used to use? and you cansee this acceleration in this ability to sequence a genome, and why are we interested in that?right? if you can reduce the cost and the goal that people are really aiming for isthis concept of the $1,000 genome that this would be something that could easily be translatedinto health care because there are many things that we do that cost $1,000 or more. and thatthis would reach the threshold in which we could begin to utilize this kind of technology. now, that said, the $1,000 genome is, youknow, it's like we have the technology but exactly how do we utilize it? therein liesthe challenge; that's implications for all

of us in practice, and i think that this littlecommentary, the $1,000 genome, the $100,000 analysis, it may even be, you know, a substantialmore analysis. that's the challenge that we all face. but we do have that capacity tobe very close to that $1,000 genome. to put it in perspective, if you think about doinga genetic test currently for, say, mutations in brca1 and brca2 associated with a predispositionto breast and ovarian cancer, the current cost can be, you know, 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 movingthese tests rapidly and directly to the consumer without the interface of the healthcare provider.and these are all kinds of varied tests. they

can be anything from, you know, companiesthat offer testing about what your ethnic heritage may be, to anything from risk assessmentto different kinds of genetic conditions, or what kinds of foods you should eat, orwho you should date or, you know, a whole host of things. and they can be very inexpensive.you can order then off the internet or just call somebody up on the phone; a lot of themare saliva tests. and this moves outside of the realm of the healthcare provider and actuallyutilizing these tests. and it's interesting. we don't know a lotabout how the public actually thinks about these tests, but there was an interestingstudy actually done looking at facebook users. so, of course, you've got some people whoare sort of interfacing in that public domain,

if you will, because they're using facebook.and they're very interested, right? sixty-four percent indicated that they actually wouldconsider using a personalized genetic test that they would actually order. but therewas a large number of people who thought that the results of some of these tests indicatedthat this was the diagnosis of a disease, so it sort of points to the fact that thereare a lot of challenges in what people actually interpret from this information. and thatthey would consult their physician. i'd challenge you that, you know, there's a number of healthcareproviders that people could consult with, not just their physician. it could be theirnurse practitioner. it could be their, you know, if they do see genetics, it could bea genetic counselor. it could be a pa. it

could be any number of healthcare providers. and what i would say to you is, ask yourselfthe question: if somebody came to you with one of those reports, would you know whatto do with the information? would you know where to go to find out what to do with theinformation? would you know who to refer somebody to who could actually answer the questionsthat your patient has? and we're at this point where we're usingmore and more of this genomic analysis, and, in fact, you know, whole genome analysis iscertainly all the rage, certainly in a wide range of research studies, and you can evenorder some of these clinically where you can order a whole exome sequence clinically forevaluation 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 ingenetics about incidental findings because in health care in general, we're very accustomedto dealing with incidental findings. you do a cat scan, and you are doing a cat scan fora 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 andthe 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 learnedthat you were at risk of having -- developing

alzheimer's, for example. and what kinds ofthings would be reported, and how you would do that, and the true scope of that. and howdo you consent people to actually have a test like this? and so the magnitude is something that iscertainly outside the realm, and there's been sort of increasingly a number of organizationsbeginning to grapple with how do we actually deal with this. and i've challenged that nursingneeds to be at the table as part of the healthcare team and really thinking through this becausethey certainly are big components of the care. and from a research perspective, you needto begin to think about, you know, genomic -- dna is very, very stable. i spend a lotof my time chasing down tissue blocks in pathology

laboratories, and we're in an environmentwhere we do have broad data sharing of samples, of data, and we need to be thinking aboutdo we have control of downstream use once that information or that sample is disseminatedto other groups. and do we really have the capacity to keep this information privatein the way that we've classically thought about it? and i've sort of mentioned the incidentalfindings, but our duty also to recontact people, and the implications of what if your patientor research subject was deceased, and this had implications for family members, and howexactly do we engage in this? these are very complex issues, and the pointthat i bring to you all is to begin to think about how that impacts your practice, eitherwhether you're interfacing with people doing

research, or you're sitting on your own institutionalirb, or you're doing your own research, you need to begin to think about some of theseissues. i'll tell you that there is a sort of a disconnectbetween what the healthcare community begins to think about what kinds of things shouldbe reported as far as incidental findings and some of the data that we're beginningto 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 informationas possible, even if that information is not something that is actionable or would changehealthcare management. and so it's an intriguing thing that requires certainly far more explorationfor us to really understand the scope of this,

but it begins to sort of open the door ofwhat we need to consider. one of the first things i think we need toconsider is who's our patient. i've certainly been in the room where, as a nurse, your patientis your patient and the family. but, in fact, when you begin to think about genomics andgenomic information, it can be information that does not just impact your patient. itimpacts the family. it impacts, potentially, communities. it could be an entire populationof 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 in translationof genomics into health care across the entire lifespan.

and so to do that, i'm going to sort of walkus through a few examples. i'm going to pull in a couple of clinical examples, and i'lljust warn you, i'm a cancer person, cancer examples for the most part, but i'm goingto try and give you a flavor of thinking about the use of genomic information from preconceptionto after end of life, and to get you thinking about, well, what does this got to do withmy own practice as a nurse as a framework? and i'm going to go through a little bit ofthe evidence that we have about what nurses are reporting to us that they know. and theseare studies that i have been involved in with my colleague, jean jenkins, and others, andso there's a few of these studies that i think are important to include.

one is our national nursing workforce studythat was done in collaboration with the american nurses association. we had 619 people whoresponded to that survey. that obviously is ascertained by us, right? people who are respondingto a survey at nursingworld.org are people who have an interest in this topic. we thenwent to the house of delegates, which is more of a nursing leadership cohort to see if thereare differences in that group. from our national nursing workforce studies, we saw we didn'thave enough ethnic diversity reflecting the true scope of what we know is associated withthe nursing workforce, so we've done a study in collaboration with the national coalitionof ethnic minority nurse associations. and our largest project is our minc project,which is a method for introducing new competency

into nursing practice. this is a study of20 magnet hospitals where i'm reporting data from that, and we have two control hospitals.this is a yearlong initiative. and then because we are quite interested in sort of the leadership,we've pulled out from our minc study the administrators as a separate cohort just to begin to lookat that. so i'm going to use those studies to sort of give you a framework or sort ofwhat do we know as we go through, sort of, the healthcare continuum. so, i'm going to start with sort of preconceptionand prenatal genetics and talk about this. and certainly, i know we have a genetic counselorin the room. that's one of the areas where they really started and excel at. i'm alwayslike, i know who to call. but you begin to

think about testing for carrier status inthat circumstance, especially when you begin to think about recessive disorders. and thenprenatal testing. you know, being able to do testing as a component of thinking aboutpeople who may have risks for certain kinds of conditions in their child or their fetusbecause either advanced maternal age, or family histories of certain kinds of conditions,or particular ethnic backgrounds. the genome institute, in collaboration with others, hasdone these nice sort of posters called, "do you know?" and i don't know how many of youhave seen them, but they're 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 justsort of a way to begin to think about those

kinds of implications and how you may usethis information. newborn screening is probably the area wherewe have the largest use of genomics, and that's a public health initiative, right? newbornscreening happens in every state. now, the scope of the tests will be different, butthere are approximately 4 million newborns who are screened in this country annuallyfor different kinds of health conditions. they are done with that little heel bloodspot, and it can result in a wide range of different diagnoses as a result of those particulartests. and there is a committee. it used to be called the secretary's advisory committeeon heritable disorders in newborns 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 particularcommittee is associated with really thinking about what's the level of evidence to recommenda particular test be integrated into the newborn screening, and that the benefits would outweighthe harms, and that there would be the capacity within the state to actually deal with theconsequences 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 necessarilybenefit the newborn, although it certainly is intended to do that, but it could alsobenefit the family members, where there may have been something going on in a family thatpeople were uncertain about, and it could facilitate some of the assessments that needto go on. it could facilitate future reproductive

decision making in certain families. so there'sa wide range of applications for newborn screening. and newborn screening is not perfect. newbornscreening can have false positive results, false negative results, or ambiguous results.and that's where the assistance of the genetics specialist in really, you know, having partnershipwith 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, you know, all of us shouldgo back and watch that movie "jurassic park," with the rebuilding of the dinosaurs, right?because the extraordinary capacity of even the smallest amount of a biospecimens, andthe 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 is where we are now, what happens todried blood spots in this state? do you know? and what would you answer to somebody whoasked you that question? you know, could i have my baby's dried blood spot to take home,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 webegin to think about integrating whole genome analysis as part of newborn screening? andhow 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 at the infancy of explorationbut it's something that's really an intriguing concept and one that we don't actually havean answer for. so let's move on to risk assessment. and sohere we are, cancer again. but think about risk assessment, the value of risk assessment.you know, nurses are all about health prevention, health promotion, trying to reduce risks,healthy eating. you know, the kinds of sort of core fundamentals that drive some of whatwe do in our profession. and the ability to identify people who may have an inheritedpredisposition to serious cancer illness and be able to intervene to try to amelioratethat 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 trulyeffective. but, of course, the key is being able to find those people. and that's oneof the big components is how do you find those people. and one of the simplest ways to findthose people is to take a family history. so what do we know about what people in ourprofession do with family history? and so the very first question we asked was, "inthe past three months, in nurses who actually are actively seeing patients, how often wereyou rarely or never assessing a family history?" so, three months, did you rarely or neverassess a family history? and it's astounding to see that the majority of nurses in ourprofession do not assess family history. they rarely or never assessed a family history.when you then ask, "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 someonewho may have an inherited susceptibility -- it could be anything from cardiovascular diseaseto cancer to other conditions -- is it occurring earlier than when it would be expected inthe general population? and the answer to that is there's a large segment of our groupwho aren't doing that. one of the key important questions. when they took a family history, did theyassess both maternal and paternal lineages? anecdotally, i can tell you working in breastcancer almost my entire career that it's astounding to me that even at this point, i have bothpatients and healthcare providers who say

that they never assessed the paternal familyhistory, and there's a robust evidence that that continues to persist, and people haveactually studied that. and indeed, we see a large segment in anywhere from 50 to 75or more percent of people who are not assessing maternal and paternal lineages that have equalweight when you begin to think about genetics. but what is intriguing is that a large segmentof the nursing population feels this is important, and so this is really good because one ofthe first steps is thinking that this is of 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 challengeand we say, "are you confident in doing any of this stuff?" and the answer is that morethan half of the people say, "no, i'm not.

i really don't have confidence," that sayswe need to do more from an educational perspective to get people up to speed. and what's even more worrisome is that 64percent of people in our minc study said that they don't actually know what patients, ifthey did the family history, that they would refer. i'll actually tell you they also don'tknow who to refer to. so the 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 it is one of the foundational concepts of our minc project, is that you can't say,"take a family history. do all of this stuff. refer," and have no place in your electronichealth record to document it. and so our minc

project includes both educators and administratorsin the dyads that are leading this because those are key concepts that everybody needsto understand because the person who's making those decisions has to understand the implicationsfor this. so i want to tell you a little story. andthis 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, not walter reed. it's a colleague of mine who's givenme permission to use her case. her name is barb ganster. she's a case manager in thebreast care center over at the naval hospital, now walter reed. and she was taught how totake family histories as part of my work in that particular program of integrating geneticsinto their breast center. she was taught how

to identify the key red flags. she was taughthow to identify a referral. and so she went in, and the particular patientthat she was seeing had come with someone who was a breast cancer survivor, her supportperson. she did the family history. blah, blah, blah. took all this history, came outof the room, and the support person came out of the room and said, "oh, don't go yet. ihave a question." and her question was, "why did you ask about ethnicity? and why did youspecifically ask about was there any particular heritage of ashkenazi jewish heritage," whichwas 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 formany years now. no one ever told me that my

father's family history of breast cancer wasimportant. no one ever told me that my ashkenazi jewish heritage was important." and so barbsaid, "well, i think you need to see a genetic specialist. and where do you live?" and shegave her a referral. and i can tell you that barb is someone whois like, tele-calzone. anything that is significant, she calls me on the phone. right? well, barbnever called me on the phone about this patient. never. this was so inconsequential. it wasjust, you know, "i'm busy. i've 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 becauseshe 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, hadher ovaries removed, and had just heard from her surgeon with the pathology that said shehad precancerous cells found on her specimen. so what's the take-home message, right? thereare so many people involved in this person's care, and it's the concept of interprofessionalcare. it's what we do, right? but there was one person who made a difference, and it wasn'teven her patient. and all of us know, right, as a physician, as a nurse, as a -- whateveryou 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 whatthe red flags are? just sort of core key concepts. barb didn't take a big, full, fancy three-generationpedigree. she took enough to know that this

person needed to see somebody, and she knewhow to make a referral. and it's the single most powerful thing in her practice that shesaid, "i saw something, and oh, my god, it's made such a huge difference." now, does itmake a big difference in this patient? you know, i would argue the answer to that isyes. you know, long-term health outcomes will tell us. but right now, at face value, itappears she made a huge difference. and she didn't do that much. and she didn't take thatmuch time. so what about screening, right? in cancer,we certainly do a lot of screening tests. there are certainly screening tests for otherkinds of conditions, anything from diabetes, cardiovascular disease, and so forth. andthe scope of screening tests can be guided

based on genomic information. what would youdo 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 gailmodel, where they've been studying being able to look at different kinds of genetic variationscalled single nucleotide polymorphisms, and whether that can add an additional piece ofinformation that could be informative about people's risk. or could we develop tests liketests that look for genetic variation in the stool that could be indicative of an indicationof a colon polyp or colon cancer. you know, colon cancer is actually an extraordinarydisease that can be prevented, but getting

people to do the colonoscopy -- and peoplearen't afraid of the colonoscopy, they're afraid of the prep, right? so could you comeup with something that people would actually do is sort of the step that we're kind ofaiming for. and if you're in cancer, but, certainly, thisis moving out into other diseases, can you use genomic information to actually help youget a more accurate diagnosis, to establish a prognosis? in cancer, we're using tumorprofiling to guide things. in breast cancer, for example, they're using tumor profilingin certain kinds of breast cancer to guide whether or not people may benefit from additionaltherapy to reduce their risk of a recurrence. and this is something that, as nurses, we'veknown all along, that, oh, goodness, why did

this person recur when, stage for stage, theywere the same as the person sitting next to them? and so why is it that this person recurredand this one didn't when they had an overall good prognosis? so this adds an additionalpiece of information that, in certain circumstances, can be informative in terms of healthcaremanagement. and then we're using more and more targetedtherapies in cancer. and this is actually a pet scan, so think about pet scans, andglucose metabolism, and sort of the red and the green and yellow are sort of these abnormalities,and this is a person who has metastatic melanoma; and just to remind you that in the brain andthe bladder, you'll see some of that green and yellow because that's a natural componentof that function. and we're looking at before

treatment with widely-disseminated diseaseto during treatment, and the rapidity of the response when you're actually targeting aparticular genetic defect associated with that person's cancer. and we're in this environment, and this issomething that i'd encourage you to sort of upload, where we have a huge range and platformof targeted therapies, and they can be from all sorts of diseases in cancer, from lungcancer to thyroid cancer to breast and colon malignancies and so forth. and the genomeinstitute hosted a new england journal of medicine series where they've in through awide range of different health conditions and provided evidence reviews. all of thosepapers are on genome.gov and are open access,

so you can go in and actually upload thesepapers and read them. they're a very useful platform to sort of begin to get you up tospeed. and i have a mutation in my technology gene, and let me tell you, if i can understandthese papers, you can understand them, so... and what about pharmacogenomics? right? pharmacogenomicsis sort of using genetic variation to begin to look at would somebody respond the sameway to different treatments? would they begin to absorb the medicine in the same way? dothey metabolize it in the same way? would the medicine work in the same way? and, infact, 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 classicconcept of contraindications that could change

some of this? but that it's based on the geneticunderpinning of how a drug is metabolized. and we begin to look at that, and we thinkabout phenotype. that's sort of the observable trait, if you will, so that if there are differentgenetic variations, you can see a wide range of different variations, and phenotype interms of drug metabolism overall, where you can have limited responses to recommendeddoses, you can have what's expected, and, you know, begin to think about how do we dodrug discovery? we take a bunch of people. we do a bunch of studies. we may randomizethem. and we say, "for most people, this is what works." and we've all seen somebody whotook a particular medication and it didn't work. somebody who took it got, you know,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 healthcaresavings that could be derived if we could understand this complex phenotype a littlebit better because then the trial-and-error approach may perhaps be diminished to a certaindegree. and i really focus on inhibitors and inducersbecause nurses are a key component of drug administration. if you're in an advanced practicerole, you may actually be ordering drugs, but nurses are a big driver also in termsof symptom management, talking to people about their medication history. "what else are youtaking? what else are you doing?" you know, the sort of litany of vitamins and supplementsthat people may or may not take, and how does

that influence medications that they may beon for particular conditions? and you begin to think about symptom management. in oncology,i can tell you, the oncology nurses are the drivers of symptom management, and so thosekinds of things can have huge implications. think about the fact that in breast cancer,for example, one of the antiestrogens that is commonly used is tamoxifen. tamoxifen ispredominately a pro-drug so it needs to be metabolized into its active form to actuallydo its job; that active form is endoxifen. and that happens through a complex mechanismbut one of the big driving genes is cyp2d6. and what happens with people who take antiestrogens?they get hot flashes. so what do you do? well, you can't turn around and give somebody who'staking an antiestrogen to treat their estrogen-receptive-positive

breast cancer estrogen, right? you're sortof shooting yourself in the foot. and so we give them ssris, low-dose antidepressants,but some of those can be inhibitors of cyp2d6. and so those are the kinds of things thatwe need to begin to understand. and it's a complex area. right? if you never had pharmacogenomicswhen you learned pharmacology, this is the kind of thing that is a complex area to beginto understand, and the evidence base that continues to emerge and the complexity associatedwith it, but there are a number of excellent resources to help people get up to speed,including those developed by our pharmacy colleagues like pharmgened, where there'sa lot of online resources to actually help people learn more.

and i'm going to tell you a story, and thisis not a cancer story. this is a family story, kind of. if you're paying attention, you'llsee there's me. this would be my dad. see the bald head? 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 ina wheelchair, and i'll say that, up until his dying day, was cognitively intact. andwhen he got his wheelchair, because he ended up being a bilateral amputee, god forbid hisphysicians 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, an incidental finding, right, on aphysical for life insurance in his 30s, and he was very robust in terms of following hisdiet, but diabetes catches up with you in

terms of vascular disease. and indeed, itdid 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 bilateralamputations. but what's the story here? so the story is,is that he started at his local community hospital because old italian man, right? "thisis where i get my care. i'm never going anyplace else. i was born here." and he had a terriblecomplication with his first bypass surgery, ended up in the icu; had no pain relief fromthe morphine that they gave him. the reason for the transfer in the icu was respiratorydepression, right? and then he decided, "you know, i think i need to go someplace else."so he went to the other major medical center

in the region where he lived, and he endedup 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 managinghis vascular disease for quite a long time, and it was difficult to know what that wasabout, but with his hospitalization and his surgery, it became clear to me that this wassomebody who really was either a poor metabolizer, or, you know, had some other kind of underlyinggenetic component that was not allowing him to metabolize morphine in the same way asother people, and that he was getting no pain relief but he was getting associated respiratorytoxicities. 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 programthere, 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 shrinkingviolet, right? there were 14 trips that i made to the anesthesiologist, to the surgeon.i am very resourceful. i can find your recovery room. i can talk to those nurses just likeanybody else. and not a single person could understand that morphine was not the drugfor him, and the reason for it, and the stock answer was, "well, it should work. it workson most people." right? [laughs] so it's a fascinating thing, right? it's becausepeople just didn't understand the underlying basis, and they don't see that relevance,and getting people to understand some of that

could've saved bazillions of dollars, andcould have certainly taken care of many trips to the icu and the stress that was associatedwith my other family members, who really didn't understand what was going on, despite my besteffort to communicate because they just weren't listening. icu, ah! and, you know, there's more than that thatruns in the family, right? because my brother is clumsy, so somebody said something aboutclumsiness early on, and my brother is clumsy, and he fell and he broke some ribs, and hegot no pain relief from the medication, and what was his first thing? he's calling meup and he's going, "hey, you know, do you think that this thing that dad had runs infamilies? and, you know, do you think i could

have the same thing? it's not like i'm goingto go out and get another -- i'm just going to live with it, but do you think this couldbe it? you know, what if i have to have an operation someday?" and what's the answerto that? yes. the answer is yes. absolutely. and i'll just say one little fun fact. sothere's my little brother with the 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 dadhad diabetes. my brother's a prediabetic. 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 brotherhad the prediabetes, my first reaction was one that was very mature. [screams] so, i'mnot actually thin yet, but i do want to look

like some movie star some day, so there yougo. so we're at this cusp of the quest for personalizedhealth care, and, you know, you can call it what you want. right? so some people callit personalized medicine. i think it's broader than just medicine. i think it's health carein general. you can call it precision medicine. i don't care what you call it. it's the sameconcept. can we do better by integrating genomic information into the health care that we deliver?and i think that the point to that is we may be able to do that. it's getting us up tospeed to be able to integrate it in a safe, and effective, and appropriate manner. so what is it that nurses need to know? andthe answer to that is we actually believe

we know what nurses need to know, and we establishcompetencies that are applicable to all nurses. it doesn't matter what your academic preparationis, where you work, or what you do. these are competencies for all nurses. these arenot competencies for genetic specialists. i don't need every nurse to be a genetic specialist.i need nurses who are going to be able to do their work to the best that they're ablein the area that they are, but be able to recognize when genomic information has relevanceto their practice and to utilize it when it's appropriate. one of the first things we heard from educatorswas well, if we're going to 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 knowledgethat support the competencies and the outcome indicators that are suggestions of what kindsof things you could measure to see if somebody was achieving a competency. and then the nextthing we heard is, "well, we need to level these for advance practice," and so that workhas been done by another team of people, and those have also been published. so we havetried to address the question of, "well, what is it that i need to know?" these are openaccess documents, and i'd encourage you to upload them because they're very useful andvaluable in terms of thinking about your own work. now, what do we know objectively about whatpeople say? and it's not a surprise. the proportion

of nurses overall in our major studies are-- you know, who think that their amount of knowledge of the genetics of common diseaseis 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.you know, nobody's winning the game here. we don't know enough. and what's informativefor us is that even with our ascertainment by us from our national nursing workforcestudy with ana, we still have a lot of people who don't know about the competencies andaren't utilizing them. in our minc study, we calculated a total knowledgescore, taking some core concepts on simple things like family history that could be integratedinto anybody's practice, and sort of beginning

to look at that, because i would say, in mypractice, 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, "well, yeah,you do. you know a little bit. you're just not recognizing it as such." and so is therea 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 wasable to get those things right. and we found that, in general, people actually do knowa little bit more than they think they do because, on average, it's between eight andnine out of 12, which was not as bad as you'd think when people self-rate their scores asso low. now, is this really a valid measure?

and the answer to that is no, but it givesus a snapshot to begin to think about it. but what we did see is that people do recognizethat some of this has relevance to common health conditions like family history andcardiovascular disease. but when you drill down and you ask them what's it associatedwith, they're getting the answer wrong. they 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, youknow, oh, my god, she's putting something up about a theoretical framework, i know.go ahead, growl. that's okay. but i think it's important to think about how do you takesomething that's so complex and think about

how you can move this out in a way that'sgoing to be effective. and some of that has to do with the healthcare system that peoplework in. some of it has to do with knowledge. some of it has to do with what they thinkabout this information. and then once you get people there, they have to be supportedto 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 knowanything about it. and so that's the first hurdle is that people think that this is important.and what's interesting though is that when you say, "do you think the senior staff --" andwe've asked people, "who do you think senior staff is?" "oh, 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 the seniorleadership thinks it's important. and so that's actually interesting because then, when youpull 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 everybodyup above them doesn't think it's important, and, as a consequence, that influences someof what people are doing. but here's the most interesting thing. wouldthey attend a genetics course on their own time? and overwhelmingly, we're seeing thatpeople would have interest in doing that. now, what people say they think they mightdo and what they do are always two different

things, right? but i'd love to find somebodywho'd fund me to take that out for a spin because i would love to see if we can makeit go. we have a lot of clues about what people needto know. we know that people think that people are going to be discriminated against, andthat they don't know anything about the genetic information non-discrimination act. we knowthat people think this is really going to 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 thinkit's reimbursable, and it's too costly, but in fact, i've showed you the evidence thatthis is going down in cost, and a lot of insurers, when there is a clinical indication, are coveringthe costs.

and so there are lots of opportunities forkey things that we can do to influence. we know that education in an academic settingmakes a difference. and so we looked at total knowledge score based on level of educationfrom doctorate all the way down to diploma, and we did see that there is a trend thatthe higher your level of education, even if you're not studying genetics like i did, themore 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 competencyin 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 knowledgeabout the competencies and what they're reporting

about their self-professed knowledge aboutgenetics. and so this is your prior genetics education, no genetics education. this isfrom our minc study. we had a lot of statistical power, and all of these are p-values thatwere significant. and younger nurses. right? think about itnow, right? our science teachers in high school have embraced genetics. we've got studentscoming into the academic programs who are really eager and open to genetics and technologyand all of this sort of thing, and so we need to capitalize on that. and we've seen thatthe younger people are, the more they're sort of embracing some of this. it's really ourchallenge to sort of step up to the plate. there are a lot of policy implications, andi can't go through them all here. i can tell

you that in our minc project, people are workingdrastically 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 forreferrals, really documenting what it is that you need to do so that people have a placeto go to look to see, "well, what do i do? i found something and i need to refer." youknow, some nurses are saying, well, they don't even know if it's something that they're supposedto do to refer. you know, so what do you do in that situation? just pretend it didn'thappen. people are really challenged about how you document family history because that'snot been well-integrated into electronic health records, and we have groups working aboutthat. so there are lots of strategies that

our minc hospitals are working on. and i want to bring home the point that thereis no one group that's sort of ahead of the game here. everybody works together for thebenefit of the patient. this is an interprofessional problem. this is something that we shouldbe thinking about how we can partner with our interprofessional colleagues to move thisforward better from an educational perspective, from a healthcare delivery perspective, fromthe way we begin to think about our quality initiatives at our institution, the evidencethat we need. and there's a lot of things about data, data, data, data, data. i will say that i'm delighted that our colleaguesfrom the national institute of nursing were

served [spelled phonetically] to really embracegenomics really early on with summer genetics institute and other initiatives, and recentlyhave partnered to work with us on a state of the science initiative to sort of definea nursing research blueprint to sort of guide some of this evidence base. and i'll say idon't want to get into the details. you can certainly read the paper about that. but wehad an excellent advisory panel that was pulled together of experts in the field, and thiswas interdisciplinary. we had colleagues from other professions engaged in this effort.and then we sent our blueprint out for public comment. so we tried to get as much inputas we could. and there are a couple of things that theysaid. one is our definition of client or our

patients should be as broad as possible. andthat we need to do research focused on the client, but also focused on the context inwhich health care is delivered, and there are key cross-cutting themes. and in augustof this year, the national institute of nursing research is sponsoring another workshop toreally 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 andactually see the blueprint itself to help get your thinking going about research thatyou 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 extraordinaryopportunity to really effect change in health care, and there are lots of resources to helpyou. we just finished a journal of nursing scholarship genomics special issue, whichis all open access, and we're grateful to susan gennaro and wiley publishers for actuallydoing that with us. my colleague, jean jenkins, has been workingwith a wide range of health professionals to establish the genetics and genomics competencycenter for education because we all know we can do a google search and find 13,000 hitsfor genomics, but which ones are accurate, and current, and reliable resources for youto 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 canbuild their platform of resources into this infrastructure. the cdc has excellent resources on their publichealth genomics site including a listserv to keep you up on the current literature.and if you want to join our competency listserv, which i moderate, email me and i'm happy toput you on it. it's a way to disseminate current resources. i'm going to also say that we have a websitethat's under development, which is an online unfolding case studies, because everybodysays, "well, i learn best by seeing patients who've had this." and so this is filmed withreal actors. it's unfolding. pick your pathway.

pick your disease. pick your condition thatyou want to learn more about. and, in fact, today we're filming some of those cases acrossthe street, so if you want to see real actors, they'll be the people wandering around lost. [laughter] probably, the resource i'd say, if you pickedanything to do right now, i would go to the smithsonian and see the smithsonian collaborativeexhibit with the genome institute. it's absolutely fabulous. they worked very hard on this. it'sfun. it's exciting. it's interactive. and it's a fabulous way for you to learn moreabout genetics and sort of whet your appetite. you know, at a hospital-based level, get afield trip going, is all i can say. it's really

worth it, and it's a great platform to getyou thinking about learning more. and then, in october, the international societyof nurses and genetics, where you'll see people from all over the world coming to talk abouttheir studies and their evidence, will be here in bethesda just down the street, andi'd encourage you to take the opportunity to attend that meeting because it's an extraordinarychance if you're in this particular area. it's one of the greatest nursing genetic meetingsthat you could attend. so, what's the take-home message? what doesgenetics have to do with your practice? only you can answer that. right? i don't know whatyou do. and utilize your leadership to begin to think about how you can be a change agentin your own environment. recognize your opportunities.

are there policies that need to be changed?are there things that we need to do differently? how do we creatively think about, on an institutionallevel, what we do and how we can move it forward? and how can we leverage the resources thatwe have to move this forward? i can tell you the things that our minc hospitals have comeup with to move this out are absolutely extraordinary, and people in the trenches have got fabulousideas, so i'd encourage you to sort of jump on the bandwagon and go forth. so i'm happy to entertain any questions. [applause] male speaker:any comments or questions for dr. calzone?

i'm thinking, when you go to the smithsonian,it's room 23? i guess we put it there because there are 23 chromosomes. that is very good.comments, questions? yes? female speaker:kathy, one area which i think nurses could really be helpful in genetics and genomesis when a patient is referred for genetics services, to sort of sit with the patientand support them through a decision about whether or not to go. and these slides ofyours that prompted that thought were the ones about nurses assessing family historiesof cancer. there's sort of a whole linear thing where you need to assess the familyhistory, and then you need to interpret properly. and then if you interpret it, you need tothen decide where to send that patient. i

know with physicians at least, there's sortof a downfall in all of those areas. but the fourth component of that pathway isif you refer the patient, there's evidence that a lot of referred patients don't getto the genetics service. and i think a lot of that happens because the patients self-geneticcounsel, and they have a lot of incorrect ideas about what will or will not happen.that's an area where i really see nurses playing a valuable role in explaining what the benefitsare and the limitations, and what they will or won't get out of the session. male speaker:could you paraphrase the comment for our -- kathleen calzone:yeah, i am going to do that because i know

she's filming it. yeah, so the comment isreally about the role that nurses can play in facilitating decision making about thereferral to genetic services. and i absolutely wholeheartedly agree that nurses can playa 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 yourgenetics referral teams because they're all enthusiastic to partner with you and workwith you to think about ways that you can help and make sure that you ,as the nursewho is making that referral, know what that's about. who is a genetic counselor? what dothey do? what role do they play? what would happen in a counseling appointment? peoplehave all kinds of misconceptions about what

that is about. and there are distinctive andunique opportunities for nurses in that realm. male speaker:other comments and questions? yes? female speaker:hi, kathy. very excellent presentation. thank you very much. my question -- i don't havea lot of clinical practice at this point in time. i'm very intrigued by the incidentalfindings. i know that the american college of -- the acmg -- medical geneticists havea recommendation paper out that any time we do exome sequencing that actually 56 mutationsshould be returned to the patient, and, in general, those 56 mutations are in cancermutations or cardiovascular mutations, and then maybe one or two other areas. so thatsounds to me it's going to hit us clinically

pretty quickly, but i don't know really who'sdoing exome sequencing, if that's really being done much in the clinical setting. do youknow, or could you expand on that? kathleen calzone:so the question is about the american college of medical genetics' guidance on what kindsof incidental findings reach the threshold of evidence that they should be reported out.and ann cashion's comment is about the number that should be reported out, and who doeswhole exome sequencing. it's important to understand -- so the acronym is acmg, andit's actually a very important paper for you to sort of read through. but this is clinicalexome sequencing. it's done predominantly in environments where you're dealing witha genetic healthcare professional who's really

trying to diagnosis something and they don'tknow what it is, that it didn't hit any of the things that would be classic, and they'retrying to do some discovery about what could be the underlying cause of the particularcondition. there are challenges in the literature comingout in regards to this because how do the laboratories report that out, but there area 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 donewith the counseling and support of the genetic healthcare professional, but this is a challengethat will continue to -- emerge isn't really the right thing, but will continue to translateitself into the general healthcare community

as we identify people who may not reach theclassic phenotype, right, that observable trait associated with a condition, but youfound something on a particular genetic test that warrants some kind of intervention. male speaker:one of the co-authors on that was our very own [unintelligible], who runs the clinseqstudy here in bethesda, and i think many of you know that i'm a participant, and i knowmany of our staff actually participate. and the reason i think he did it is that he'shonorably sitting over there with finding things that he thinks are important. there'da big find [spelled phonetically] that's going on in the community about we should returnit or not return it, or what you should do

with it. so if you get into it, you'll noticethere's argument. are there other comments or questions? well, we're beyond time. i'm sure that dr.calzone would be happy to stick around and answer any individual questions. i think itwas one of the nicest presentations we've had, and i thank you, dr. calzone. kathleen calzone:thank you.