 So, I'd like to introduce myself. I'm Mira Irons. I'm the Chief of Clinical Genetics at Boston Children's Hospital, and I'm here representing the APHMG. But I keep getting moved up on the schedule, so I guess this is a good time. I can really try to set the tone for this. I'll either upset everybody or move us all in the right direction. But my charge has been to talk about fellowship training in genetics and genomics. And just to give you a sense of who I am, I'm kind of like Sybil here. I come here as a medical genetics educator. I ran the Harvard training programs for 10 years, and I have to say that it is wonderful to see two of my former fellows at the table at meetings like this, because that's what it's all about as a genetics educator. I also come here as a clinician. Those of you that know me know that I'm a clinician at heart, and I really do feel that doctors learn things by taking care of patients. They can go to all the meetings in the 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 who gets at least five calls a day from residents, fellows, and people in practice saying, I have this patient here. And I'm really not sure what to do about it. And you know there's this family history of hemochromatosis. And should I send the family to you to do this testing? Or can I do it from the office? And if I do it from the office, what lab do I send it to? And how do I interpret this result? And why is the lab telling me that I need informed consent? And I only have six minutes to see this patient. So as I see it, that's the problem. So the vision that we all had is, and I'm dating myself a little in this, talking about slide carousels. But all the geneticists, all the geneticists, medical geneticists in the world, and I started my training in medical genetics in 1983, had this slide. Once we know what the gene is and understand the molecular mechanism of the condition, we'll be able to treat it effectively and improve health. And we walked around for 25 years with this slide in our slide carousel. And we're finally here. I think we're at the point where this is reality. But a lot of specialties really don't know that it's reality. I had a talk, I was at a meeting a few weeks ago, and I talked with two internists about genetics and genomics. And I said, what about training some of your fellows and your residents in genetics and genomics? And their response was, well you know in pediatrics and an OB that makes a difference. But I really can't see this being important in internal medicine. And I think that that's really where we have failed. I think we've failed because we haven't taught people how it can be important. So we're there, but I would say that we haven't and aren't teaching people how to apply this to their practice. And I know that a lot of people in this room are really doing a lot of work at the local level teaching their residents and fellows and students the principles of genetics. So I don't mean to say that this isn't being done. But I'm taking the 35,000 foot view here and looking at the calls. 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 their patients, and that's the charge here. So as I said, we're finally at the point where genetics and genomics will impact medical care, but we haven't given healthcare providers the information they need to use this effectively and practically. Pairs are actually going to call the question here. Genetic testing is really expensive. And it's being used appropriately by some people, but it's also being used inappropriately by other people. And so what is starting to happen is that payers are starting not to pay for testing that actually really can help with the care of their patients. So we're at this funny crossroads in life where we can finally apply some of what we have learned, but we're going to be told that we can't apply it. So how do we teach genetics? What do we teach? Well, we teach it in medical school. And I think that all of the medical schools in the country have genetics integrated in their curriculum somehow, either a standalone courses or it's integrated into other courses. And we do this really well, but most of us teach this in year one. I mean, I spend ten hours a week for five weeks with the first year medical students at Harvard, and we go through four or five really difficult cases that teach people how to practice genetics, how to apply genetics and genomics to patient care. And then I see those students as third and fourth year students on the wards. And they give me, the question I hear is, what color tube do I send chromosomes in? And how do I send off genetic testing and what test should I send? Now there are medical schools in the country I know that are bringing this back. They're bringing the students back in the third and fourth years. But too many aren't. Then they graduate from medical school and they go into GME programs. And how many program requirements contain any mention of genetics and genomics? Bruce put together a meeting, was it nine or ten years ago, right after you went to UAB? 2004. 2004, 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 about how to teach fellows and residents and the primary care specialties in genetics. And the message that came through loud and clear was, if it's not the program requirements, we're not going to teach it. We may not know how to teach it, but we also don't know where to put it. And when I talk to people on my local level about this, the response is, well, what do you want me to take away? If I put genetics and genomics in, then I got to take cardiology away, or I got to take nephrology away, or infectious disease is really important. So I'm here to say that maybe this is the time to say genetics and genomics is important, and it needs to be in all of the program requirements somehow. And then we get to CME, and now MOC is the new player on the street. And how do we teach all of these doctors in practice, who didn't have the advantage of going to medical schools and training programs where they were taught genetics and genomics. How to apply this when they have six minutes to see a patient. So this has been my strategy. This is my embedded journalist or embedded geneticist strategy. And I didn't do this to 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. I'm fortunate enough at the hospital that I'm at to have 15 geneticists and eight genetic counselors. And what I was seeing was that we were sitting on the 10th floor of the Fagan building, which is the clinical building of children's, waiting for patients to come to us. People would send us 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. And if you take cardiology, for example, there were 35 cardiologists all seeing patients. Perhaps funneling those patients to 14 different geneticists, 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. You know, my pitch to him was geneticists are cheap. You don't have to pay him, what do you pay a cardiologist? And if we put the geneticist in your clinic, it will actually improve patient care. The patient can see the geneticist and the cardiologist in the same space. It could facilitate research. And you may actually be able to raise some money for doing this. So he took the challenge. He actually raised five years of salary for the geneticist with that. And a really interesting thing happened from it. Patients loved it. Families loved it because they didn't have to go to three different places in the hospital to see their specialists. And some clinical research studies came of it. But all of a sudden the cardiology fellows were asking that geneticist to come to her clinic. In a million years, they never would have asked to spend a day in my clinic up on fake and ten. And even if they did, it wouldn't have been a good thing for them because they maybe would have seen a child with autism, or they might have seen a child with polycystic kidney disease. But what they really want to see are kids with cardiac disease. And all of a sudden it was relevant to them because they were learning genetics within their scope of practice. And we did the same thing with plastic surgery and we did the same thing with orthopedics. And we're doing the same things with otolaryngology. And all of a sudden it dawned on me that people actually have to learn this within their scope of practice. So what are the possible solutions? And this is my last slide for the timekeepers up there. Is we have to, I really believe that we have to teach genetics and genomics within a healthcare provider scope of practice. And I'm sorry to have to point to GME, but that may be the best place where this should be. What do I mean by is this a procedure? We are looking at our hospital of introducing next generation sequencing into clinical practice. And I think it's come to a time where we're going to have to credential people to actually order this testing. Until we teach people how to use genetic testing appropriately, we're not just going to be able to open the floodgates and allow everybody to order this test. So we're looking at credentialing people to do this like you would to credential laser privileges or endoscopy privileges at the hospital, which is kind of a new twist. People don't usually credential people for cognitive things. From a GME standpoint, perhaps I haven't, I can tell you that, looked at all of the program requirements out there, but maybe we should look at the program requirements to actually see what's there. From a GME standpoint, I think we really need to consider point of care educational materials. Something that a healthcare provider can find in 30 seconds in their office to help them take care of their patient. There aren't enough medical geneticists in the world to see all these people, and we shouldn't be seeing these people. One of my first year medical students at Harvard this year, we were talking about genetic testing or 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 he said, no, no, no, you should be able to explain this to your families. He's going into family medicine in Michigan. And he said, you know, I need to be able to tell people this. You don't need a geneticist to do the easy stuff. You need a geneticist to do the difficult things. And then my last appeal is use medical geneticists to work with all of your specialties to create the educational content and provide consultation when needed. You know, there are a lot of us, there aren't a lot of us as a specialty, but we're in all of your specialty organizations. The American College of Medical Genetics and Genomics 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 dedicated to education. And I actually think that if we have a coordinated effort to do some of this, we can make it happen. So that's it. Thank you. Thank you, Myra. I'll just add one comment. I think the credentialing idea is a very interesting one. I will note that some payers are doing this sort of de facto in the course of utilization review in that if a genetic test comes in ordered by a geneticist, that is approved. Whereas if it's ordered by a non-geneticist, 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 close to a microphone if you can. So I think that the credentialing idea is innovative and it's not without precedent. So I think I've got David first and then Bruce and Gail. So I'm David Bick. I'm at Medical College of Wisconsin. A bunch of people around here know that we're using whole genome sequencing clinically in our hospital. And the hospital leadership along with us are basically going to or we're definitely planning to require credentialing for anyone who's gonna order a whole exome or a whole genome. So that's underway. I think that at smaller institutions, it may be actually easier to put the brakes on these things. But for example, my institution has 3000 healthcare providers that can order tests. I have 900 rotating residents that come in and out of that hospital every year. So that's the difficulty with some of this is people come and order a test and then they're gone. But I think credentialing is really the best way to do it. Yeah, I mean, I think the issue here obviously is that there are a few thousand attending physicians and so forth in the hospital system. And basically when we've talked to at sort of higher levels with individuals about this possibility, there actually wasn't much pushback at all because most people feel that this is a complex test, very expensive and that a lot of physicians don't feel super comfortable ordering it. Thank you. I'm gonna interject just for a second to people that are note taking when I hear something that I think is something I wanna put in the parking lot for later discussion. And so the comment that I would just make after David's comment is if we go the credentialing route then we would need to think about criteria for training and competence. That would be something to discuss, Bruce. I just wanted to underscore a point that Mira made. This embedded geneticist is not a cardiologist interested in genetics. It's a geneticist interested in congenital heart disease and may not be obvious to everybody, but genetics is an ACGME accredited residency and ABMS recognized specialty. And I think where we need to evolve is towards recognizing subspecialty tracks in genetics, realizing that genetics is such a broad field at this point. It's all of medicine and we have to provide training opportunities for people who want to subspecialize in areas like cardiology or oncology or many others. Thank you, Bruce. Gail. First I wanna thank Mira for a great talk and also all her work in education and then briefly say that Arna Matulski back in the 1950s and early 60s used to find patients by walking around the wards and looking at the charts and in the hippie era unfortunately we can't do that but we luckily have good connections into internal medicine because of that. But then to reflect on something you just said half of medical genetics residency spots every year do not fill. They're empty. We can't find trainings for those spots. And there's a lot of reasons why I don't think we probably have time to go into it. But I think this is something that really merits attention and part of it is as you say it's the subspecialty. People wanna do cancer genetics or they wanna do adult genetics and not learn dysmorphology. So I'm not sure it's just subspecializing after medical genetics but possibly different tracks where you don't have to learn everything to be in at the beginning. I think you're absolutely right. We have the Medical Genetics Residency Program Directors Association has been grappling with this for years. And I think what happens is that medical students in their first year get really excited about genetics and genomics. I mean they really, you could see it on their faces. They're really excited. And then they fall in love with an organ system. You go through this mind thing when you're a medical student. Do I like kids or adults? That's your first thing. Am I gonna be a surgeon or a cognitive specialist? And then they fall in love with an organ system and then to do genetics is another two years. And I think what Bruce is saying and what a lot of us have been talking about is it doesn't have to be an either or anymore. There can be subspecialty tracks in genetics that can be user friendly. But to even take your boards, you have to be very, you know, I'm an internist so I learned all that pediatrics and the biochemical genetics. But not everyone wants to do that. And we find in particular when we're bringing an oncologist into our training program, they're happy to do a year and become sort of experts but there's no certification for that. There's no acknowledgement of what they've done because they can't sit for the boards unless they become a generalist. So I'm gonna let Bruce just have one brief comment since he's spent a lot of time in this area. Yeah, so the American College of Medical Genetics and Genomics has a task force on the issues of genetics education. And this issue has come up a lot as a topic for discussion. How can we provide training opportunities for people who are specifically interested in cancer genetics just to take an example? That doesn't require them to learn to diagnose congenital 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 Medical Genetics is open to and we would be delighted to have partners in other specialties to pursue it. I will tell you one of the challenges is a fairly expensive thing to do because you need to create an exam which with the NBME the price of entry to do an exam is high. So somehow it's gonna have to be jump-started but I think you'll find tremendous openness to this. Thank you, Bruce. Gene. I wonder Dr. Irons, have you thought about your model of embedding geneticists outside the walls? In private practice. You know, that would be great. I think we don't have the manpower. You know, it's a manpower issue. And I think we just don't have the manpower to do that. But it gets ultimately to teaching where it hurts. Oh, you're absolutely right. You're absolutely right. Yeah, I'll just note that at Northern California Kaiser they are actually experimenting with embedding genetic counselors within primary care pods much the same way of having them available 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 as a triage function, I think they've found that that's been reasonably efficient. Now, again, the Kaiser model, at least in terms of the economics of the delivery, are not generalizable but I think it's something interesting to think about. The other thing to put on the table with relation to that is whether or not we need another level of genetic provider that would be one step below the training of genetic counselor. You might think about it as a genetic educator or something of that, that an individual that could take a family history could analyze a pedigree and could also serve a triage function that would be less resource intensive than geneticist genetic counselor and whether that is a gap that needs to be filled. I'm barefoot doctor, in other words. In a way, yeah. Whatever that is, sure. Mike. Mayor, that was. So I was just gonna say that as far as a relevant example that credentialing committees can understand for intellectual input into interpretive services, we can always point to EKGs as something that they all understand and there's only certain doctors in the hospital that can officially interpret them. Mike, Pearl. I really like the idea of credentialing for ordering but I think maybe to put in Mark's parking lot is the fact that a lot of this has been done in the research environment and there's no credential for being a researcher let alone for ordering a test and I think with the blurring of those boundaries we'd really need to look at the ripple effect. Yeah, so I think that's a good point and Pearl, as you all know, there's a lot of discussion in a lot of different venues about the idea of the blurring between the clinic and research and so I think that while that's clearly an important topic and something that this group is cognizant of and I think actually we spent some time on this at GM2, I wouldn't necessarily want that to be the major focus of this meeting but certainly always good to keep that in mind and you're absolutely right. In a research space the concept of credentialing is not relevant. But actually Pearl just brought up, it made me think of a great thing. Most of us in the research environment have to take some online, whether it's the city course or something like that to be able to participate in research and that may be actually kind of an easy way of solving this at the national level is to create some sort of an online curriculum for ordering genetic tests so that every hospital doesn't have to come up with their own educational curriculum and credentialing. It may actually solve both problems. The one question I have with doing a specialist view would be if you are getting whole exome or whole genome sequencing back and you're not just talking about pediatric disease, you're not just talking about cardiac disease, you're talking about everything. And can that specialist then talk about everything or is that gonna end up being still a geneticist or someone else? Well, I think that specialist can actually talk about the results within their own specialty but maybe that's when you use the medical geneticist for the other stuff. For the secondary findings that you may find that aren't within your specialty but at least teach the specialist how, because I'll argue that the nephrologist or the cardiologist or the immunologist knows those genes better than I do, you know? And so they should be able to interpret those results for their patients but the secondary findings they may need some help with and that's where maybe genetics should come in is to help with that. Deborah? So in, hi Myra, I'm over here on the, to your left. In pathology it is routine to have certain tests only orderable by someone that we trust ordering that test and that's either done through the EHR that when you order the test there's a block saying you need to get a consult or a, you know, from someone. So the same thing could be done with genetic tests and it's a little different than the credentialing process but you may want to consider both pathways. I think it depends on the size of your institution. You know, when you're having thousands and thousands of outpatients a day you can't call a consult for everything and I think some of the larger hospitals have been doing that. I know that in, I think, wasn't it at the Brigham mic that every time a certain test was ordered the genetics fellow got paged and you know, that's just not reasonable. You know, you can't, the genetics fellow really should not be the triage person for telling full professors whether or not they should or should not order tests. We have to teach people how to do this. We can't put the block at the consult level. I agree on the educational process but in the meantime it may be a stopgap measure. Yeah and I think that there's actually literature that the ARUP white paper that came out that looked at having genetic counselors contact the ordering physician for all the genetic tests that identified an average amount of $36,000 of testing a month that was inappropriately ordered is clearly an indicator that not only are there patient quality issues related to inappropriate testing but there's dollar amounts that are with us as well. So and there's also a couple of papers that have come out in the oncology world that also showed significant issues with inappropriate testing. So I think we have empirical evidence that 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, Jeff. Thanks, Jeff Ginsburg. I just wanted to raise the point about genome interpretation and I think it'll be really interesting to see how some of the commercial firms that are evolving to do genome interpretive services will abut this conversation about how we as a professional societies are thinking about genome interpretation. So there's a commercial strategy going on right now to do a whole genome interpretation and sell that to paying customers and we're talking about trying to create standards and training to do this and these two are happening in two different worlds. Well, they're gonna issue a report and then they're gonna hope that whoever ordered that test and gets that report knows what to say to the patient and that's the rub, that's where it stops because I think that some people might know how to interpret that report for the patients but others may not and you don't know what you don't know until you get there and I think that's my concern. Bill. Talking about appropriateness of testing, the American College of Cardiology over the past seven years or so have come up with appropriateness use criteria for different scenarios, for non-invasive testing, for revascularization and other things and I think this is a great idea to embed appropriateness of genetic testing depending on the clinical situation. Thank you. I think we're at the end of this discussion. This was really great. I heard three takeaways, one related to the credentialing, one related to the idea that we need to consider different types of tracks of genetics training and then something that we didn't really spend a lot of discussion time on but which is a 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 next we have a couple of quick hitters from the MEs and we'll start with Dr. Naska from the Accreditation Council for Graduate Medical Education.