 I'm a board certified geneticist, and today I'm representing the American College of Obstetrics and Gynecology. I'm also representing the American Board of Medical Genetics. I've been on their board of directors for about five years, and so Mimi Blitzer, who's our executive director, has also vetted these slides as well as the college. I'm not too challenged with this. Okay, so this is our, I was very interested, I said to Gene, and I want to thank him and Mark, too, for inviting me, and for their guidance, how everyone took Gene's structured list so differently, and you'll see mine is quite different, too. So we have 55,000 members in the college, and just like cardiology, that includes international people, some nurses, some obianesthesia, but I think the point to be made here is this is a large group, and that our goals for patient management is to arm physicians because with regard to genetics, we think they are overwhelmed. As Bill said before, OBGYNs are very worried about litigation, and so they are very concerned about being in new waters and making a mistake. They really rely on our documents, which are, I would say, expert opinion as opposed to absolute evidence, and they also are being thrown around by a lot of corporate marketing. So with regard to non-invasive prenatal testing, which is a test that came out within the last year, October of 2011, we now have new graduates of residency programs who have never had a drug lunch in a hospital because they're not allowed, who get called by these guys to go have a nice steak dinner, and it's very hard, I think, for them to deal with some of this information, and so the college, the Committee on Genetics tries to help manage some of these questions. So for some other examples, for the busy practitioner, I think genetics is viewed as a complex nuisance. It interferes with their time, it's too confusing, and they're very worried about the issues that will come out of making a genetic decision. They have a little time. I think many times family histories are inaccurate, and they're very worried about violating the privacy of other family members, and some of the things I'm going to talk about really have to do with arming the patient to come in with the right information in the first place. There's very limited genetic counseling support, and there's abysmal, of course, genetic counseling reimbursement, and commercial labs. I mean, I live in Salt Lake City, so lots of financial interest in commercial labs to provide genetic support. We all have stories about the manipulation of patients by commercial labs to order things people really perhaps don't need. This is what the Committee looks like in the room. It's very formal. I sit in on Bob Saul's AAP Committee, which is really informal and warm. This thing is very formal, right? And there's ACOG staff around a big table. There's the chair, a vice chair, a young member who's usually under 40, not a geneticist. There's seven members. There's a genetic counselor. We've had the same genetic counselor for 10 years. And liaisons to other groups and other ACOG committees. I'll talk about those in a minute. We have internal collaborations with other groups. For example, I wrote the sort of genetics piece for the assisted reproductive technology that came out of GYN practice. And we have an ethics committee. I called them because I'm trying very hard to answer the array CGH question for prenatal diagnosis, and I really need some ethics support for this. These are the groups that we collaborate with, mostly the American College of Medical Genetics and Genomics. The CDC, I sit on the SACDNC meetings for newborn screening, the ASRM, of course, Pediatrics, the Society of Maternal Fetal Medicine, the National Society of Genetic Counselors, Marcia Dimes, and of course, NICHPEG. We like to use external collaborators. I'm pushing very hard to write documents that other groups agree with. This has been a big problem. The College of Medical Genetics and Genomics supports SMA screening in pregnancy. ACOG didn't. And I think this is very confusing for providers for support groups, for advocacy groups. And so the more standardized information we give, I think the better off we are. And to that end, we recently put out a statement on non-invasive prenatal testing that was a joint document between ACOG and the Society of Maternal Fetal Medicine, mostly so that if mommy said one thing, nobody could say, well, daddy said something else. These are our standard educational activities. We turn out committee opinions. They're practical. They're educational. They're usually linked to a website for further information. It's reliable. We update and we just updated our technology assessment document. I'm trying very hard to incorporate genetics at the national meeting that happens yearly. And there's a new Education Director for the College, so I'm meeting with her to try to change that and to work on some of these outside documents. We have a collaboration with the ABMG, and I'll talk a little bit about how that works. It's not easy because the ABMS says you have to do these things for maintenance of certification, but the way the ABMG interprets that is not how ABOG interprets that. And I'm sure many of you have the same issues if you're double board certified. And then we're trying to turn out sort of timely publications that have concrete how-to sections. So for example, on our document on cystic fibrosis screening, there's a section on what are you supposed to tell a patient about what the phenotype is for cystic fibrosis. So I just copied here a little bit about what to say to your patients. In terms of guideline development, the committee sits around, develops some ideas. The guidelines are written by an assigned member. It's vetted by the committee. And then it goes through all of these stages with a published timeline in the major OBGYN journal of obstetrics and gynecology. And one of the issues with this whole system is that it's very long and cumbersome. And so we got the non-invasive phenyl testing out almost within a year after it was commercially available. That was kind of a record. It's very hard to get this done in a timely way. And the journal only has so much room to publish your guidelines. I think we should be moving toward increasing joint collaborative documents. We're going to do a microarray document that will also be combined with the Society for Maternal Fetal Medicine, I think, for consistency. And this is a list of some of the documents that we've put out in the last five years. I'm not going to read them, but they are kind of what you think they might be. This is what they look like. These come up periodically and then are vetted by the group to see if they're still relevant and if they need to be updated, they are. In terms of answering the question for Jean, how do you deal with the double board certified diplomats? We have, and I didn't know this, we have 153 people that are like me certified in OBGYN as well as genetics. The majority of these people are either general OBGYNs who did extra certification as a genetics fellowship or maternal fetal medicine specialist who did this. There's a few reproductive endocrinologists. Everybody is certified in clinical genetics and then several people have another specialty that they're certified in as well. And then I just wrote that, you know, this is just very cumbersome, right? The ABMG has a certain way of doing MOC, ABOG has a different way of doing MOC. ABOG will never accept anything that the ABMG does. ABMG accepts everything pretty much that ABOG does, but it's very labor intensive for the office, the ABMG office to do this. And there's really no sort of national standards for how to integrate different boards for the use of MOC. There was an initiative to have an OB Genetics Residency Program that is due two years of, in order to do a genetics residency, you have to do two years of an ACCME accredited program. And then you can start a genetics fellowship. We've had no graduates, no trainees ever. And Mimi thinks that's because it's very difficult to integrate into a surgical specialty. That is just too hard. And that for the most part, people that are board certified who have an OBGYN degree do something that's not surgical, like maternal fetal medicine or endocrinology. It's just, this hasn't turned out to be a very viable approach. For the board, I looked at what's incorporated into written and oral board exams. So for OBGYN you have to pass a written board exam, and then you have to take an oral exam. And so I looked at what's incorporated into that, and it all looks right. When you look at sort of the subtypes of these topics, it all looks very reasonable actually. When I looked at what the CREOG, the Council of Residency Education and OBGYN, what their curriculum does, that is what residency directors are supposed to incorporate into residency programs, looks totally reasonable. But I would tell you that, you know, that means I'm doing it. Because I think that at least in my generation, the physicians that are teaching residents don't know enough about any of this stuff. And I can tell you honestly that in Utah I do a CREOG boot camp for a couple of days before they take the board exam to go over a lot of this material so that they are somewhat up to date. So I think everyone's hard to integrate that on the ground level. I'm not sure how that gets done. It doesn't work for the OBGYN Residency in Utah. And so I did something different with Jean's request. He said, you know, what do you want to do for the next 10 years? And I think there's sort of three issues. One is the Meaningful Use Family Health History Initiative. I'm going to talk a little bit about that. Many of you probably know more about that than I do. But I think our groups with information about what Family Health History is going to mean with regard to Meaningful Use Family Health. I think telehealth is a very important way to go here as a way to standardize nationally what people hear. I mean, in my state, and Mark very well knows, Utah has very sophisticated care in very urban areas. And then there is nothing for hundreds of miles in little tiny hospitals. And there's no way to standardize medical care in the state. And I think that patients need electronic education tools that part of them is focusing on what doctors need. But I think if patients came in more prepared, that's not everybody, but that would certainly handle a fair percentage of people to come in with the right questions answered about their family history or some reading before they came in that was vetted and reliable. I think that is very important. So with regard to education tools, I think what that means is to interact with genetic information, extending what's available with regard to genetic counseling. Intermittent Health Care has an Intermittent Mom's Facebook page. We've done a whole bunch of stuff for them. There's many initiatives about office iPads to integrate genetic family health history into clinical decision making. And I think this is just a very important piece that our arming patients, our physicians eventually. With regard to meaningful use, I don't know where you guys are, but we're getting dinged if we don't fill out certain requirements now with regard to meaningful use. And for the electronic health record, the goal I believe of meaningful youth is to standardize electronic information between different health systems. If they're standardized, then you can move and so on and your information is not changed. And people can understand what they're talking about in a very standardized way. It means that these electronic health vendors have to meet national guidelines. And this information is basically epic in everybody's electronic health records so that information is standardized. And meaningful use has a family history initiative that starts in 2014. And it means that doctors will have to enter family health history if your health system chooses this as one of the possible options in the meaningful use format. So there's several core things they have to include. This is not a core requirement. And some smart people are telling me this may be a core requirement for 2016. And basically SNOMED, there's pathologists here, right, who have standardized what information goes into the family health, the family history part of the medical record. And it's based on an informatics platform called HL or Health Level 7. And I'm sure many of you know more about this than I do. But the sort of standardized information is going to include family history very soon. And so my understanding is that in 2014 this will be a menu item, but not a core requirement. And if it's chosen as part of your health systems requirement, then greater than 20% of all your unique ambulatory or inpatient patients will have to have a structured data entry for one or more first degree relatives. And so I think one of our initiatives at the college will be to try to help doctors understand how to do that and to do it well. Because this is all really great, but if it's not valuable information or if it's made up or patients don't really know what they had, it's meaningless. So my hope is that we will be able to do some of that. And since it may be a core requirement in 2016, I think it's something that we all have to think about. With regard to telehealth, for a state like mine, it would be huge if we could do telemedicine for genetic counseling because we can't travel to these little small towns all over the state of Utah. And Medicaid, as I understand it, is now paying for telehealth, which hopefully will open the door to other third party payers to pay for telehealth, which I think is a very important initiative for the next few years. And so this is my last slide for future planning. I think to answer Gene's question, I think these are the things that are important to think about in a very concrete way. Telehealth, arming docs to understand what to ask with regard to meaningful use, continuing emphasis on home education activities or electronic activities so that patients bring in, understand what is going to be asked in the office and are brought in the correct information. And then also for us is the more rapid development of committee opinions for national dissemination with continued joint statements for other national guidelines to decrease confusion and make things easier for our physicians. So I think that's my last slide. Great. All right. Thank you. Comments? Okay then. No, no, no. Okay. So we have David and Robert, Bob. Okay, David. So one thing I've been sort of involved personally in the OB side being, believe it or not, I do a lot of chronic bill of sampling. Okay. I've done many, many for 10, 15 years. Wow. And one of the things, well, actually when I was back in Virginia, I started doing them there. I've probably done in excess of 10,000. But what it's allowed me to do is really get to see the OB side of things. And my opinion of obstetricians is that they are much more involved in genetics than a lot of the other specialties like internists because that's sort of a natural connection. And so I, so in some ways, the OB community, I think is ahead of the curve in certain ways compared to other specialties because it's become part of their practice. I don't know any OB who's not involved in CF screening. Well, I'd say the whole state of Utah is not involved in CF screening. Right, Mark? I mean, it's a tough thing. Very close. I mean, that's, I mean, in my left Philadelphia, I mean, everybody's screened, right? But in Utah, very tough because no one considers that a disease. And, you know, it's in part of newborn screening now. So it's very, that's very hard to change. I think one of the very interesting things about OBGYNs is in obstetrics anyway, docs will take a family history at the first visit and then they will completely ignore it. It will never be looked at again. So if someone has a hypercholesterolemia history, you know, you can't really test for that during pregnancy because the values don't matter. But after pregnancy, they never look at it again. Or if someone has a real BRCA family history, you know, they don't really want to deal with that during pregnancy, but then they don't deal with it again. And so it's a comp, I mean, I agree with you, but I'm not sure that they act on it quite as well as they should be. So. Bob. Regarding your last lament about the difficulty in terms of getting guidelines or practice opinions or whatever out in a timely fashion, I wonder if that's not a universal thing. And I wonder if some of the professional societies shouldn't be looking at ways just to, every society's going to do their own things differently. But everybody I've talked to from American Academy, ACOG, and listening to other societies too, it seems like there could be some unification of effort to figure out ways to do this better than everyone reinventing the wheel. I totally agree. And then, you know, there's one opinion and I think that really would help. It's much less confusing. I think the opinions can even stay separate if they want to. I just think the mechanics can also, we could make tremendous inroads if we just thought through easier ways to mechanically get through the process. Yeah, that's sort of above my level, but I agree with you. I mean, sooner is better. And you know, these things, they're hard to write too. But then when you're done, it's got to go through another six months. And that you have at least from our, on the ground, no control over, right? You're absolutely right. Yeah, so I think one of the things we should potentially think about as an outcome, and I don't know that it will ultimately be determined as a part of the purview of what our action items will be. But it seems to me that the issue that you're bringing up, Bob, really relates to one of is there some way to facilitate a shared infrastructure guideline development as opposed to each of us doing our own, having our parochial ways of dealing with things. And I understand the reason for that is because when your society puts out a professional guideline, you know, you're the one that has to answer to your practitioners. And with the SMA example that Nancy pointed out, ACOG would have been beset upon with pitchforks and torches had they, you know, supported what the College of Medical Genetics and Genomics decided was, you know, what our consensus, you know, arguably with a few of our members that were directly involved on the front line with that. But, you know, I think it is an issue that if there were to be some mechanism that could be created that would be sort of a meta-society that could adjudicate some of these things and at least reduce some of the barriers, then, you know, a place where people could propose joint guidelines and where there could be a representation, it's a conceptual idea that we may or may not want to act on. But I think that's what we're trying to get at. It's important. Absolutely. Yes. Sandra. And along with that, we really do have to have outcomes. And this is a discussion we have all the time for, as I mentioned, we have NCCN guidelines and oncology, which is another group. And they are consensus based, but they have no outcome data. They have hundreds and hundreds of pages of guidelines, which many, you know, people in the academic community have contributed that by their expert opinion. But there's, you know, they've lost that ability to really correlate it to outcomes. So I think that's critical that we look at that. Thank you. We're going to make an adjustment to the agenda. Everybody has been so phenomenally efficient in terms of both their presentations and the question and answer period that we're going to have while I had a schedule. But I think that there's some real rich opportunities for group discussion. And so what we're going to propose to do is to actually have Erin Ramos from Genome present on the clinically relevant variant resource prior to the break. We'll then take our break and then we'll reconvene at the same time and we'll have a little bit of extra time for discussion. And if that is efficient, then we may well let you all out early, which may be unprecedented. Before Erin starts, I want to thank the last group of professional society presenters for, again, excellent presentations. Thank you.