mira irons:so i'd like to introduce myself.â i'm mira irons, i'm the chief of clinical geneticsat boston children's hospital, and i'm here representing the aphmg, but -- and i keepgetting moved up on the schedule. so i guess this is a good time, i can -- i can reallytry to set the tone for this. i'll either upset everybodyâ or move us all in the rightdirection.â but my charge has been to talk about fellowshiptraining in genetics and genomics. and just to give youâ a sense of who i am, i'm kindof like sibyl here.â i come here as a medical genetics educator.â i ran the harvard trainingprograms for 10 years. and i have to say that it is wonderful to see two of my former fellowsat the table at meetings like this because
that's what it's all about, as a geneticseducator.â i also come here as a clinician.â those ofyou that know me know that i am a clinician at heart, and i really do feel that doctorslearn things by taking care of patients.â they can go to all the meetings in this world,and they can read all the journal articles, and look at all the cover stories in the world,but what they will remember is what they apply to a patient. and i also come here as a clinical chief whogets at least five calls a day from residents, fellows, and people in practice saying, "ihave this patient here and i'm really not sure what to do about it, and, you know, there'sthis family history of hemochromatosis, and
should i send the family to you to do thistesting, or can i do it from the office?â and if i do it from the office, what lab doi send it to?â and how do i interpret this result?â and why is the lab telling me thati need informed consent?â and i have only six minutes to see this patient."â so, asi see it, that's the problem.â so the vision that we all had is -- and i'mdating myself a little in this, talking about this slide carousels -- [laughter] but all the geneticists -- all the geneticists,medical geneticists in the world -- and i started my training in medical genetics in1983 -- had this slide.â "once we know what
the gene is and understand the monocular mechanismof the condition, we'll be able to treat it effectively and improve health." and we walkedaround for 25 years with this slide in our slide carousel, and we're finally here.â i think we're at the point where this is reality.â but a lot of specialties really don't knowthat it's reality.â i had a talk -- i was at a meeting a few weeksago, and i talked with two internists about genetics and genomics. and i said, you know,what about training some of your fellows and your -- and your residents in genetics andgenomics, and the response was, well, you know, in pediatrics and in ob that makes adifference, but i really can't see this being important in internal medicine.
[laughter]â and i think that that's really where we havefailed.â i think we failed because we haven't taught people how it can be important.â sowe're there, but i would say that we haven't and aren't teaching people how to apply thisto their practice. and i know that a lot of people in this room are really doing a lotof work at the local level, teaching their residents and fellows and students the principlesof genetics, so i don't mean to say that this isn't being done, but i'm taking the 35,000-footview here and looking at the calls.â i think we're teaching people the principles of genetics,but we're not teaching people how to apply those principles to their practice and theirpatients, and that's the charge here.â
so, as i said, we're finally at the pointwhere genetics and genomics will impact medical care, but we haven't given health care providersthe information they need to use this effectively and practically.â [inaudible] payors are actuallygoing to call the question here.â genetic testing is really expensive.â andit's being used appropriately by some people, but it's also being used inappropriately byother people. and so what is starting to happen is that payors are starting not to pay fortesting that actually really can help with the care of their patients.â so we're atthis funny crossroads in life where we can finally apply some of what we have learnedbut we're going to be told that we can't apply it.â
so how do we teach genetics? [inaudible] well,we teach it in medical school, and i think that all of the medical schools in the countryhave genetics integrated in their curriculum somehow, either standalone courses, or it'sintegrated into other courses. and we do this really well. but most of us teach this inyear one.â i mean, i spend 10 hours a week for five weeks with the first year medicalstudents at harvard, and we go through four or five really difficult cases that teachpeople how to practice genetics, how to apply genetics and genomics to patient care, andthen i see those students as third and fourth year students on the wards and they give me-- you know, the question i hear is, what color tube do i send chromosomes in? and youknow, how do i send off genetic testing and
what tests should i send? now, there are medicalschools in the country, i know, that are bringing this back, they're bringing the students backin the third and fourth years, but too many aren't.â then you know, they graduate frommedical school and they go into gme programs. and how many program requirements containany mention of genetics and genomics?â bruce put together a meeting -- is it nineor 10 years ago? right after you went to uab. bruce korf:2004.â mira irons:2004.â where he brought together some training program directors in genetics, internal medicine,pediatrics, and family medicine, i believe, for three days to sit there and talk abouthow to teach fellows and residents in the
primary care specialties in genetics. andthe message that came through loud and clear was, if it's not in the program requirements,we're not going teach it.â we may not know how to teach it, but we also don't know whereto put it. and when i talk to people on my local level about this, the response is, wellwhat do you want me to take away?â you know, if i put genetics and genomics in, then igot to take cardiology away, or i got to take nephrology away, or, you know, infectiousdisease is really important.â so i'm here to say that maybe this is the time to saygenetics and genomics is important, and it needs to be in all of the program requirementssomehow.â and then we get to cme ,and now moc is thenew player on the street, and how do we teach
all of these doctors that practice, who didn'thave the advantage of going to medical schools and training programs where they were taughtgenetics and genomics, how to apply this when they have six minutes to see a patient.â so this has been my strategy. this is theembedded -- my embedded journalist or embedded geneticist strategy, and i didn't do thisto teach, i'll be perfectly honest, i didn't do this to teach residents and fellows genetics,but this was actually a nice byproduct of this.â i'm fortunate enough, at the hospitalthat i'm at, to have 15 geneticists and eight genetic counselors. and what i was seeingwas that we were sitting on the 10th floor of the fegan building, which is the clinicalbuilding at children's, waiting for patients
to come to us. you know, people would sendus consults, outpatient consults, or we would go on the wards and we would see patients,and those were the only patients that i was seeing.â and if you take cardiology, for example, therewere 35 cardiologists all seeing patients.â perhaps funneling those patients to 14 differentgeneticists who weren't able to see common patterns; everybody was kind of doing a one-off.and so i convinced the chief of cardiology to basically buy part of a geneticist. youknow, my pitch to him was, geneticists are cheap, you don't have to pay them what youpay a cardiologist, and if we put the geneticists in your clinic, it will actually improve patientcare; the patient can see the geneticist and
the cardiologist in the same space. it couldfacilitate research, and you may actually be to be able to raise some money for doingthis. so he took the challenge. he actually raisedfive years of salary for the geneticist with that. and a really interesting thing happenedfrom it: patients loved it.â families loved it because they didn't have to go to threedifferent places in the hospital to see their specialists, and some clinical research studiescame of it. but, all of a sudden, the cardiology fellows were asking that geneticist to cometo her clinic.â in a million years they never would have asked to spend the day in my clinicup on fegan 10, and even if they did, it wouldn't have been a good thing for them because theymaybe would have seen a child with autism,
or they might have seen a child with polycystickidney disease, but what they really want to see are kids with cardiac disease.â andall of a sudden it was relevant to them because they were learning genetics within their scopeof practice.â and we did the same thing with plastic surgery, and we did the same thingwith orthopedics, and we're doing the same thing with otolaryngology, and all of a suddenit dawned on me that people actually have to learn this within their scope of practice.â so what are the possible solutions -- andthis is my last slide for the timekeepers up there -- is we have to, i really believethat we have to teach genetics and genomics within a health care provider's scope of practice.â and i'm sorry to have to point to gme, but
that maybe the best place where this shouldbe.â what do i mean by, is this a procedure? we are looking at our hospital of introducingnext-generation sequencing into clinical practice, and i think it's come to a time where we'regoing to have to credential people to actually order this testing.â until we teach peoplehow to use genetic testing appropriately, we're not just going to be able to open theflood gates and allow everybody to order this test. so we're looking at credentialing peopleto do this like you would to credential laser privileges, or endoscopy privileges at thehospital, which is kind of a new twist; people don't usually credential people for cognitivethings.â from a gme standpoint, you know, perhaps ihaven't -- i can tell you that -- looked at
other program requirements out there, butmaybe we should look at the program requirements to actually see what's there.â from a cmestandpoint, i think we really need to consider point-of-care educational materials; you know,something that a health care provider can find in 30 seconds in their officeâ to helpthem take care of their patients.â there aren't enough medical geneticists inthe world to see all these people, and we shouldn't be seeing these people.â one ofmy first year medical students at harvard this year, we were talking about genetic testingor something, and one of the students said, "oh, we'll just send them to the medical geneticist."and he turned to that other person and said, "no, no, no.â you should be able to explainthis to your families."â he's going into
family medicine in michigan.â and he said,"you know, i need to be able to tell people this."â you don't need a geneticist to dothe easy stuff; you need a geneticist to do the difficult things. andâ then my last appeal is, use medical geneticiststo work with all of your specialties to create the educational content and provide consultationwhen needed.â you know, there are a lot of us -- there aren't a lot of us as a specialty,but we're in all your specialty organizations. the american college of medical genetics andgenomics have done a lot of work on their act sheets and their practice guidelines.the association of professors of human and medical genetics is a group that's dedicatedto education.â and i actually think that
if we have a coordinated effort to do someof this, we can make it happen.â so that's it.â thank you. marc williams:thank you, mira. mira irons:[inaudible] marc williams:i'll just add one comment. i think the credentialing idea is a very interesting one. i will notethat some payors are doing this sort of de facto in the course of utilization review,and that if a genetic test comes in, ordered by a geneticist, that is approved, whereasif it's ordered by nongeneticist, then there's a second level of review that takes place.and, actually, we'll have some questions,
so you might want to just at least stay closeto a microphoneâ if you can.â so i think that it's -- the credentialing idea is innovativebut it -- and it's not without precedence.â so i think i've got -- david beck:it's david beck -- marc williams:-- david first, and then bruce, and then gail. david beck:â so i'm david beck. i'm at the medical college of wisconsin.â a bunch of people around hereknow that we're using whole genome sequencing clinically in our hospital, and the hospitalleadership, along with us, have -- are basically going to -- or we're definitely planning torequire credentialing for anyone who's going
to order a whole exome or whole genome, sothat's underway. mira irons:i think that at smaller institutions it may be actually easier to put the brakes on thesethings, but, you know, for example, my institution has 3,000 health care providers that can ordertests. â i have 900 rotating residents that come in and out of that hospital every year.â so, you know, that's the difficulty with some of this is people come and order a test, andthen they're gone.â but i think credentialing is really the best way to do it. david beck:yeah. i mean, i think the issue here, obviously, is that there are a few thousand, you know,attending physicians and so forth in the hospital
system, and, basically, when we've talkedat sort of higher levels with individuals about this possibility, there actually wasn'tmuch pushback at all because most people feel that this is a complex test, very expensive,and that they're -- and that a lot of physicians don't feel super comfortable ordering it. marc williams:thank you.â i'm going to interject just for a second to people that are note taking, wheni hear something that i think is something that i want to put in the parking lot forlater discussion. and so one of the comments i would just make after david's comment is,we would -- if we go the credentialing route, then we would need to think about criteriafor training and competence; that would be
something to discuss. bruce. bruce korf:i just wanted to underscore a point that mira made.â this embedded geneticist is not acardiologist interested in genetics, it's a geneticist interested in congenital heartdisease. and it may not be obvious to everybody, but genetics is acgme accredited residencyand an abms-recognized specialty. and i think where we need to evolve is towards recognizingsubspecialty tracks in genetics, realizing that genetics is such a broad field at thispoint, it's all of medicine, and we have to provide training opportunities for peoplewho want to sub-specialize in areas like cardiology, or oncology, or many others.
marc williams:â thank you, bruce. gail. female speaker:first i want to thank mira for a great talk and also all her work in education, and thenbriefly say, that arno motulsky, back in the early 1950s and early '60s, used to find patientsby walking around the wards and looking at the charts. and in hipaa era, unfortunatelywe can't do that, but we luckily have good connections into internal medicine becauseof that. but then to reflect on something you just said, half of medical genetics residencyspots every year do not fill.â they're empty, we can't find trainees for those spots, andthere's a lot of reasons why, and i don't
think we probably have time to go into it.â but i think this is something that really merits attention, and part of it is, as yousay, it's the subspecialty. people want to do cancer genetics or they want to do adultgenetics and not learn dysmorphology. so i'm not sure it's just sub-specializing aftermedical genetics, but possibly different tracks where you don't have to learn everything tobe in at the beginning.â mira irons:i think you're absolutely right. we have the medical genetics residency program directorsassociation that's been grappling with this for years, and i think what happens is thatmedical students, in their first year, get really excited about genetics and genomics.i mean, they really --â you can see in their
faces, they're really excited, and then theyfall in love with an organ system.â you know, you go through this vine thing when you'rea medical student: do i like kids or adults, you know, that's your first thing; you know,am i going to be a surgeon or a cognitive specialist; and then they fall in love withan organ system, and then to do genetics is another two years.â and i think what bruce'ssaying, and what a lot of us have been talking about, is it doesn't have to be an either/oranymore; there can be subspecialty tracks in genetics that that can be user-friendly. female speaker:but to even take your boards, you have to be very -- you know, i'm a internist, so ilearned all that pediatrics and, you know,
biochemical [laughs] genetics, but not everyonewants to do that. and we find, in particular, when we're bringing oncologist into our trainingprogram, they're happy to do a year and become sort of experts, but there's no certificationfor that,â there's no acknowledgment of what they've done, because they can't sit for theboards unless they become a generalist. marc williams:so i'm going to let bruce just have one brief comment since he has spent a lot of time inthis area. bruce korf:yes, so the american college of medical genetics and genomics has a task force on the issuesof genetics education, and this issue has come up a lot as a topic for discussion: howcan we provide training opportunities for
people who are specifically interested incancer genetics, just to take an example, that doesn't require them to learn to diagnosiscongenital anomaly syndromes, maybe other than ones that are associated with cancer.and this is very definitely an area we would like to pursue and the american board of medicalgenetics is open to, and we would be delighted to have partners in other specialties to pursueit.â i will tell you one of the challenges is fairlyexpensive thing to do because you need to create an exam, which, with the nbme, theprice of entry to do an exam is high, so somehow it's going to have to be jump started, buti think you'll find tremendous hope in this -- to this.â
marc williams:thank you, bruce. gene. eugene passamani:i wonder, dr. irons, have you thought about your model of embedding geneticists outsidethe walls.â mira irons:in private -- eugene passamani:yeah. mira irons:private practice? you know, that would be great. i think we don't have the manpower.you know, it's a manpower issue.â and i think we just don't have the manpower to do that.
eugene passamani:but it gets, ultimately, to teaching -- mira irons:right. eugene passamani:teaching where it hurts -- mira irons:oh, you're absolutely right. you're absolutely right. marc williams:â i'll just note that at northern california kaiser, they are actually experimenting withembedding genetic counselors within primary care pods, much the same way of having themavailable to enhance family histories and discuss that, and as a place to be able to,again, do some education, do some consciousness
raising, and also to serve a triage function.â i think they found that that's been reasonably efficient. now, again,â the kaiser model,at least in terms of the economics of the delivery, are not generalizible, but i thinkit's something interesting to think about.â the other thing to put on the table with relationto that is whether or not we need another level of genetic provider.â that would beone step below the training of genetic counselor; you might think about it as a genetic educator,something of that, an individual who could take a family history, who could analyze apedigree, and could also serve a triage function that would be less resource intensive thangeneticist/genetic counselors, and whether that is a gap that needs to be filled.
male speaker:a barefoot doctor, in other words. marc william:in a way, yeah. whatever that is, sure. mike.â michael murray:so i was just going say that as far as a relevant example, that credentialing communities canunderstand for intellectual input into interpreted services, we can always point to ekgs is somethingthat they all understand.â and there's only certain doctors in the hospital that can officiallyinterpret them. marc williams:thank you, mike. pearl. pearl o'rourke:i really like the idea of credentialing for
ordering, but i think maybe to put in marc'sparking lot is a fact that a lot of this is being done in the research environment, andthere's no credential for being a researcher, let alone for ordering a test, and i thinkwith the blurring of those boundaries, we'd really need to look at the ripple effect. marc williams:yeah, so, i think that's a good point.â and pearl, as you well know, there's a lot ofdiscussion in a lot of different venues about the idea of the blurring between the clinicand research, and so i think that while that's clearly an important topic, it's somethingthat this group is cognizant of, and i think, actually, we spent some time on this at gmii.â i wouldn't necessarily want that to
be the major focus of this meeting, but certainlyalways good to keep that in mind, and you're absolutely right. in a research space, theconcept of credentialing is not relevant.â mira irons:but actually, pearl, just brought up a -- it made me think of a great thing. you know,most of us in the research environment have to take some online, whether it's the citycourse or something like that, to be able to participate in research, and that may beactually kind of an easy way of solving this at the national level, is to create some sortof an online curriculum for ordering genetic tests so that every hospital doesn't haveto come up with their own educational curriculum and credentialing.â it may actually solveboth problems.
male speaker:the one question i have, with doing specialist view would be, if you are giving whole exomeor whole genomes sequencing back, i mean, you're not just talking about pediatric disease,you're not just talking about cardiac disease, you're talking about everything. and can thatspecialist then talk about everything, or is that going to end up being still a geneticistor someone else? mira irons:well i think that -- you know, i think specialists can actually talk about the results withintheir own specialty, but maybe that's when you use the medical geneticist for the otherstuff.â you know, for the secondary findings that you may find that aren't within yourspecialty, but at least teach the specialist
how -- because i'll argue that the nephrologists,or cardiologist, or the immunologist knows those genes better than i do,â you know, andso they should be able to interpret those results for their patients, but the secondaryfindings they needâ -- may need some help with. and that's where maybe genetics shouldcome in, is to help with that. marc williams:debra. debra leonard:so in -- hi, mira. i'm over here on the -- to your left.â hi.â in pathology, it is routineto have certain tests only orderable by someone that we trust ordering that test, and youcould -- that's either down through the ehr that when you order the test, there's a blocksaying you need to get a consult or, you know,
from someone.â so the same thing could bedone with genetic tests, and it's a little different then the credentialing process.â but you may want to consider both pathways. mira irons:i think it depends on the size of your institution.â you know, when you're having thousands andthousands of outpatients a day, you can't call a consult for everything.â and i thinksome of the larger hospitals have been doing that. i know that -- i think wasn't it atthe brigham, mike, that every time a certain test, the genetics fellow got paged, and,you know, that's just not reasonable.â you know, you can'tâ -- the genetics fellow reallyshould not be the triage person for telling full professors whether or not they shouldor should not order tests.â we have to teach
people how to do this.â we can't put theblock at the consult level. debra leonard:i agree on the educational process, but in the meantime, it may be a stop-gap measure. marc williams:yeah, and i think that there's actual literature that the area arup white paper that came outthat looked at having genetic counselors contact the ordering physician for all the genetictests that identified an average amount of $36,000 of testing a month that was inappropriatelyordered, is clearly an indicator that not only are there patient quality issues relatedto inappropriate testing, but there's dollar amounts that are with this as well. so -- andthere's also a couple of papers that have
come out in the oncology world that has alsoshowed significant issues with inappropriate testing. so i think we have empirical evidencethat shows that this is a significant issue and that it does impact patient care and cost,and so solutions at the practice level are definitely needed.â geoff. geoff ginsburg:thanks. geoff ginsburg. i just wanted to raise the point about genome interpretation, andi think it will be really interesting to see how some of the commercial firms that areevolving to do genome interpretive services will, but this conversation about how we,as a professional -- how professionalâ societies
are thinking about genome interpretation.so there's commercialâ -- there's a commercial strategy that's going on right now to do wholegenome interpretation and sell that to paying customers, and we're talking about tryingto create standards and training to do this, you know, and these two are happening in twodifferent worlds. mira irons:well, they're going to issue a report, and then they're going to hope that whoever orderedthat test and gets that report knows what to say to the patient. and that's the rub;that's where it stops.â because i think that some people might know how to interpret thatreport for the patients, but others may not, and it's -- you don't know what you don'tknow until you get there. and i think that's
my concern. marc williams:bill. william zoghbi:talking about appropriateness of testing, the american college of cardiology over thepast seven years or so have come up with appropriateness use criteria for different scenarios; fornoninvasive testing, for [unintelligible], and other things, and i think this is thisis the good idea to embed appropriateness of genetic testing depending on the clinicalsituation. marc williams:thank you.â i think we're at the end of this discussion.â this was really great.â i heardthree take-aways.â one related to the credentialing,
one related to the idea that we need to considerdifferent types of tracks of genetics training, and then something that we didn't really spenda lot of discussion time on but which is personal interest of mine and some others in the room,is the idea of point-of-care information and education. so we'll just park those. and nextwe have a couple of quick hitters from the mes, and we'll start with dr. nasca from accreditationcouncil for graduate medical education.â
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