 So Mark wanted to say that this is an experiment. Now, so let me introduce Mark Williams, and he will take it from here. Mark. Yeah, thanks. I'll tell you. OK, so this is an experiment. We've never done this before. But we thought this is a long day. Energy's flag, as the day goes on. So we thought we'd try and do something different to liven it up as with any sort of an implementation. We're going to learn from this, because it almost certainly will go horribly wrong. But the next time will be that much better. So the way this is going to work is we have two debaters. The topic of the debate is the role of primary care providers in genomic medicine. Arguing for the role of primary care providers in genomic medicine is Carol Horowitz. Arguing against the role of primary care providers in genomic medicine is Gail Jarvik. The structure of the debate is that each, yes, there are two out of three falls. So the structure of the debate is that each of the debaters will have 15 minutes to state their primary thesis. That will be done with PowerPoints, at least in Gail's case, Carol. And so we'll have PowerPoint presentations for 15 minutes. After the two PowerPoint presentations, each debater will have a five to eight minute rebuttal to respond to the other debater's points. We then have some discussants who we will open the floor to. Hopefully you guys know who you are. I know who you are, so just be attentive, Howard. And then we'll finish off with an open discussion. So to start off, arguing for the role of primary care providers in genomic medicine, we have Carol Horowitz. Let's get ready to run. I'm sorry, that's wrong. Mark, can you explain why you chose this particular topic or whoever chose it? Why this topic? No, I cannot, because I didn't choose the topic. I chose the topic. But the genomic medicine working group enthusiastically endorsed it, I might note. Which means that no one came off mute. That's right. And it really was the issue that I think many of us are facing. There aren't enough geneticists to go around, and there aren't primary care practitioners that are upscaled enough to be able to do this. So who does it? We recognize that with any debate, it's sort of an arbitrary or artificial division of perspectives, but we thought that might make things a little more lively for this afternoon. Thank you. All right, Carol. Hello, so I'm a pro, and I'm happy to be discussing with my friend Gail. And I am a health services researcher. I do mostly health equity and community-engaged research. I'm also a primary care provider. I was trained in general medicine, and I still see patients. So what I've heard, because I do a lot of different health services research, some of which is genomics, when I first came into the field and I heard people talking about genomics, at one of the early meetings I was at, I was watching people in the room as we were talking about genetics expanding and genetic testing expanding, not only into rare diseases, which us PCPs might not be good at, but getting into things like pharmacogenomics, chronic disease testing. I was watching people literally calculate out how many more genetic counselors were going to be needed to staff this up. And I, as a primary care provider, and as a researcher, was thinking, well, I don't know how much of that is really necessary. And this is what the kind of things, when I was asking people, why do we think we need so many genomic medicine professionals to fill out this field? These are some of the things that I've heard and that have been written about. From a patient perspective, it's this idea that genetic tests predict something happening to people. And maybe genetic counselors, genomic medicine providers are really good at that. It's that it has meaning for family members. So the test doesn't just mean something for me, it could mean something for my siblings, my children, et cetera. And the results can stigmatize people. So this is a reason that maybe like genetic counselors, genetic medicine providers should be involved, not just people like me and this staff and the team that I work with as a PCP. From a clinical perspective, the kind of arguments I heard were, there's a lot of ethical stuff here. Consent is very, very complicated. There's uncertainty. We don't know what the results mean or we might know what they mean, we're not sure. There's so much information. It's the TMI thing. Genetics is happening so quickly. Non-genetic medicine people will not be able to keep up with it. And even if you can keep up with it, you guys are not trained enough to understand what it means and to do a good job explaining it to your patients. And also, you guys can really screw it up. You can miss really big things and bad things can happen to people. And the other thing is, genomics is exceptional because genomic medicine providers think it is. And that's often true in fields where you have a specialty. People, when they specialize in something, have a feeling that I need to do this because I'm better at it than anybody else, which could be true about a lot of things. Should diabetes providers see all the diabetes patients, et cetera, et cetera. So then that led me to think, well, what isn't exceptional? What doesn't, should there be primary care providers at all? Maybe everything should be handled by specialists. And it made me think about my old days with HIV. So I just substituted genomic medicine with HIV because I was a primary care provider. My early days of primary care were when HIV was epidemic. There weren't good treatments. There were all sorts of diseases that were happening with people with HIV and AIDS and we didn't know what to do with them. And this is the kind of things we heard about. From a patient perspective, when somebody's HIV positive, it's predictive of really bad things happening. And you better be really good at explaining that to patients. It has a meaning for their family members. Do you have it? If you're my partner, do you have it? How often do you need to be tested? Can I have kids with you? Can we share toothbrushes? It can clearly be stigmatizing. From a clinician perspective, the same thing. Lots of ethical issues about consent. One of my first patients, I consented, I said, do you want an HIV test? They said, yes. I said, what would you do with the results? They said, if I'm positive, I would kill myself. Uncertainty challenges. What do you tell people who are HIV positive? In the old days, there weren't a lot of treatments. Too much information for on HIV docs to keep up with. There's too much going on with HIV. You're never gonna be able to do this. And you're never gonna be able to explain this to your patients. And again, you could screw it up. And again, I know that in my early days, I was meeting with a bunch of HIV providers and they literally said to me, how dare you think you could take care of our patients? You will never do as good a job as we do. But that brings me back to who I am as a PCP. For us, everything sort of is an exceptional. The hallmark of a PCP in some ways is we steer a ship for people, prevention and management of diseases. And we need to know what we know, what we don't know, when we need to refer, when we don't need to refer. But people often come to us. And back in the day, in the 80s, there was an issue of HIV exceptionalism. And I think that maybe some of what we're seeing in genomics is a little bit similar. I know they're not the same, but they're similarities. So in the 1980s, as a primary care provider, when I was at Bellevue, which was the epicenter in New York City of HIV, I was not allowed to return test results to my patients. They had to have lay people who didn't know my patients before I could have known my patient for a while. They didn't know the patient. They would come in and do the consent. They would return the results and then they could go back to me. And at that point, there were similar conversations about we were talking at Bellevue. How many people do we need to hire to do HIV testing and return results? And then over time, it kind of became part of a PCP arsenal. Now it's gotten to the point where we no longer do, you know this, is no longer informed consent for HIV testing. It's just a routine test, partly because HIV is treatable. And for a lot of primary care providers, we are the first line management for HIV. And but we know how to refer. For me, I don't see patients as often. I don't, I no longer do HIV care. I refer to either other PCPs or specialists. I know how to test. I know how to return results. I know how to follow my patients. And what do we do with our patients? Well, first of all, we as PCPs, we see patients every 15, 20 minutes. We can't do everything. So for certain things, I refer to lay health workers. In fact, in the US and global literature, often lay health workers are better than we are in terms of handling some of the early HIV stuff. And for complex things, either because we want to or because our patients want to, we can send to HIV providers. So primary care is exceptional too. And I want you to think about this when you're thinking about patients and genomic testing. We are, we PCPs are the first contact for most patients in the healthcare system. And we're the ones who do the continuous care. So I have a patient that go out and see this person. They come back and see me. They get a direct to consumer testing. They bring it to me. They read the newspaper. They call me. They talk to their friends who says I did something wrong. They call me. We're that one in the middle. We not only do that as, so we're the one who's there on the long road. We explain really complex things to our patients all the time. And we partner with lots of different kinds of patients. We are steeped in uncertainty. You know, what percent of medicine are we really 100% sure about? So we really have to be honest with our patients about things we don't know. We have many new challenges. Genomics is one of them, but we're constantly being squeezed. Everything in healthcare is changing so much right now. And we partner with specialists also very fluidly and we do this all while helping patients steer the ship. So there's another argument. This is just too much information for primary care providers. It really is. But we really do TMI all the time. So this is an article that came at New England Journal of Medicine actually has a knowledge area that's just to help people like me who are constantly overwhelmed. We use up to date. We use these kind of things because we have so much information about everything and we don't send our patients to specialists for everything. And this is showing that this says in 1950, I don't know if you can read it, doctors in practice could expect the total amount of medical knowledge to double every 50 years by 2020, just 73 days. And we have not only, you know, exponential increases in knowledge, but also things like health disparities, social determinants that are happening, aging populations, all kinds of new technologies and changes in health reform. So now, how much I get paid is determined by so many different factors. So I just wanna go through with you my yesterday morning. First I want you to put on your genomic medicine cap. All right? So these are, I looked, I saw patients yesterday before I flew out here. I saw 12 patients between 8.30 and 12.31 o'clock and I have a summary of six of the 12 patients. So now you think about these things, right? Refractor, depression, we got stuff for genetic testing there, metastatic lung cancer and pain, double genetic testing there, pancytopenia, hep C, DVT, pulmonary embolism, hypertension, microalbuminuria, my baby, ApoL1, right? Sure, all my patients could have this and we could spend the whole time doing this, but the patient is part of a lot of different things. So this is who was really going on. So my patient with refractory depression also has coronary artery disease, diabetes, CHF and is blind and Spanish speaking. The person with metastatic cancer, we have to decide if she's going into hospice and the oncologists are not responding in terms of that. My person with pancytopenia who's scared about the workup and doesn't want genetic testing necessarily yet, we need to push her along because he's a Jehovah's witness and if his blood count gets too much lower, he's in big trouble because he can't have a transfusion. My patient with hepatitis C also has alcoholism, she's abused by her husband, we need to find her emergency shelter. My patient with DVT and PE just found out even though she's not young, that her grandfather is actually her father and this patient here, Michael Schamburger and his mom, Flora, who are both my patients who gave me permission to use this, he has hypertension, he actually is ApoL1 positive, but he's also got Crohn's and right now he has a massive scrotal abscess. So we are used to complexity and pulling together everything and helping patients understand how one thing relates to another, what they do about these things and we follow people over time. And I want you to remind you that we as PCPs, you guys share challenges with us. So TMI is not just a problem with us, it's a problem for genetic medicine specialists also who are not gonna be able to keep up with 750,000 genetic tests and 10 new ones each day. And for that, that doesn't mean PCPs shouldn't be involved in it, it means we have to figure a way to call this, I don't know how a group like this, how we can all figure out which genetic tests we get for who and when, but it's beyond any individual provider and Informatics is gonna help us. Ethics, we got. Some, but not all, genetic medicine is too hard and I would propose to you that some of it we might even be better at. I might be better than some of my genetic medicine physician and genetic counselor colleagues in terms of easy stuff. So when I wanna prescribe a medicine for somebody, I do a creatinine, I do renal function, I say you can't be on this because you're creatinine, you have to be on this or I change the dose. To me, pharmacogenomic test is no different. I don't see why, I can't just have there's another thing, you don't need to know big X, little X or a lot about genomics to say based on this you can or can't have a certain medicine. I have never had a patient ask me what a creatinine is and why it means I have to change something. Same thing with chronic disease risk. You're at risk for this, I tell people all the time, you smoke, you have this, you have this, you have this, you also are able or unpositive, I don't have a problem with that. If we don't have time, I'm gonna show you some data on lay health workers that can help us extend and sure when it's hard, we definitely need to work with genetic medicine docs and genetic counselors. You guys are our gurus. The mistakes, we all make mistake. Wrong side surgery, you know, take it out of kidney when you're not supposed to. There's lots of mistakes that happen. So I'm just gonna show you, but are PCPs prepared? Well, this is a study that we did. We did a study where we tested people for April on gene variants and in 15 sites in New York City and we returned results to them through lay people and to their PCPs through electronic health record, best practice alerts. And what you can see here is definitely people all had training, about a third had ordered tests, but you can see providers didn't particularly feel very prepared. They were concerned about things, even more concerned than their patients were and they had some optimism about genetic testing. So not new, right? We know this, right? Had some training, not particularly prepared, but think it might do something. But what happened when we actually returned results to patients through lay people and through best practice alerts? We did over 2,000 people of African ancestry, middle age, good number of people with low health literacy, low formal education and low income. And look what they said. This was remember lay people who gave them the test results from their community and then PCPs could, we don't know when they talked to their patients or not, we didn't record that. Almost everybody said they had enough information to decide on the test, the timing, the amount of information was fine. It was easy to understand, they were satisfied, they didn't have a lot of regret and they'd get tested again. We offered every single patient for free. You can meet in person on the phone with a genetic counselor to talk about anything you want. Zero took us up on it. So, in summary, PCPs are central. We're not the only people, but we're part of the team and we're central in a lot of care, just like for central and oncology care and in diabetes care and in other kinds of care. I think we're central in this. We don't have a choice. People come to us, there's a verb we PCPs call it. We call it getting 23 and mead, because we really do. We are in the center whether we want it or not. And people bring tests to us. We can help and we hopefully are smart enough to know who to refer to and how to refer if we can't. We can also help you guys with your patients. We also have tons of lab tests. We order lab tests all the time. We know how to simplify things. When we've started our April 1 testing, what we heard when we did in-person piloting from our patients is why is the genetic counselor telling us so much? Shorten it, let me ask questions. We might be able to help you, especially in some of the areas of risk disclosure for chronic diseases. We know how to simplify things and say things for our diverse patients because they come back to us time and again. And I want to suggest for you guys that you grow your workforce wisely. Yes, there might be need for more genetic counselors. For PGX, maybe not. For chronic disease testing, maybe not. Grow the workforce wisely and be our gurus to help us not screw up. And remember, we really, you know, teamwork makes the dream work. So I want to thank the participants that have taught me so much and our funders. I want to thank my friend, Gail, as we met 25 years ago. And I want to thank you guys. This is all on behalf of our team of researchers, patients, advocates, and all sorts of other folks, clinicians, who have worked together to do what I'm explaining to you today. Thank you. Thank you, Carol. Gail's coming up. I always recall when I'm C-Pro and Khan, you know, if pro is the opposite of Khan, what is the opposite of progress? Yeah. Yes, and your timing was just about right. Two seconds is the average time for that joke. So thank you very much. All right, Gail, your 15 minutes are starting now. Okay, you know, Carol purposely threw me off with that adorable picture of my husband. So. All right. Anyway, okay. So, genomic medicine cannot solely be the responsibility of primary care or even a high level of responsibility. Certainly primary care providers will provide clinical care to patients with genetic disorders. And it is very much like other parts of medicine. You take care of people who have renal insufficiency all the time, but at some point, oh, before the dialysis, you move and get a nephrologist involved in the case. So I think one of the questions that we're gonna talk about is what are the boundaries and what are primary care providers prepared to do? In the world of genomic medicine. Okay, so this is actually the curriculum of the medical students in the first year at the University of Washington. And this is the only genetics training they formally get. And it is in this first block there. So that is a 34-day block. And it is one of many topics in that 34 days. So they are getting, you know, the best two weeks maybe of genetics training, formal genetics training, as opposed to a medical geneticist or a genetic counselor which would get two years of training. So this is the knowledge base that we're starting with. And I will say that in my institution, the amount of formal genetics training has actually decreased in the curriculum. And that is because the curriculum is driven nationally by national tests and national programs. And so we have a long record of medical genetics at the University of Washington. We had a large presence in the medical school. We don't anymore. So I'm not sure it's going the right way. I can't speak nationally, but certainly this reflects what the national expectations are. Okay, so what do you need to know, right? Well, this is kind of the short list. There's a few more things. There are thousands of genetic diseases. And you need to know, you know, sort of when the questions need to be asked and then where to get reliable information. You need to know who needs a test. And also importantly, who does not need a test. You need to know to test the affected person first for most disorders. So if you have a cancer disorder, you wanna test the affected person. You don't wanna test the sister who comes in and says, you know, my sister had breast cancer at 35. You need the sister who was affected first. This is a complete mystery to many, many of the providers. You need to be able to explain what the test is, what the possible outcomes are, including variants of uncertain significance and incidental findings, which I'll come back to the US is. You need to be able to talk about the limits of the test, which is critical. You have to understand the test to understand the limits of the test. You need to know the follow-up intervals for either new testing or other strategies. You need to be able to authorize a genetic test. This is a huge obstacle. We spend an enormous amount of time in medical genetic clinic trying to get the test approved for our patients. We have some reasonable success rate at it. In our hospital was unable to do it in their central pre-authorization pool. They just didn't have the ability to understand the testing needs. They do all the other pre-authorizations for everything else in the hospital. We do the genetic tests because otherwise we weren't getting them. You need to be able to understand what the management changes are and the implications for the family. And a lot of medicine doesn't center on what happens to the rest of the family. It centers on the patient in front of you. The management changes, we generally list and then pass the patients back. So we don't continue to manage patients. The only patients that we keep in our clinic are the biochemical disorders and vunhippel endows. And for vunhippel endows, it's for lack of anyone in the community who honestly wants to take care of them. Everyone else we diagnose and release into the wild with recommendations, but often to specialty clinics. Okay, so what happened when one of our neighbors decided to reduce their genetic counseling program? This is a true case. My information on this is from the media. So if there are any errors, I don't have any inside information. This is a case of a family that had a known unbalanced translocation in the family. The family got their OB care at a regional hospital. They did send a prenatal test on the fetus, but they did, and they specified that there was a condition in the family, but not exactly what the condition was. The lab did not follow up and say, hey, what was that condition, which they frankly should have. The test missed the unbalanced translocation in the fetus and that baby now will need lifetime 24-7 care. 50 million dollar award for not having a genetic counselor see this case. It's not a good outcome. They ordered a test. They didn't order the test correctly. Okay, so physicians, I wanna get back to VUS is, there's very little actual data on what physicians know about genetic medicine, and so I looked at what I could find and some of these are very small studies, but this was Mayo Clinic in Florida. They surveyed, they got 92 out of about 500 non-geneticists to answer, and you can guess that the 92 who answered might've felt like they knew more about genetics than the other 400 that didn't. They asked them three questions about VUS is, and VUS is are quite common now because of panels, and one thing that was interesting that they described is over half the physicians said they would not be comfortable disclosing a VUS, and they were right about that. So I'm giving you two of the questions because one was sort of management E, and did I have the, oh, it's not showing up? Oh yeah, good. Okay, so I circled the right answers in green and I will not quiz you and make you answer them without the circles there. So the first case, your patient has no personal history of cancer, sister's diagnosed it with breast cancer at 45, sister has comprehensive testing, and a VUS is found in BRCA1. What's the recommendation? And it is not that she get a comprehensive test, it is not that she get a VUS test, it is that there is not testing available at this time that's gonna benefit your patient. And so as you can see, about a quarter of the people answered that correctly, half of them said that you would test for that specific VUS, but we don't know what it means, it's very bad to get the patient a test when you can't do anything with the information, and in fact this information is specifically misused in medicine, and we're aware of surgeons who have said to our patients, you have breast cancer in your family, you have a change in your breast gene, and therefore it must cause cancer, and they don't have a deep understanding that most VUSs will be reclassified as benign. And in fact when I've said that to surgeons I've been challenged on that statement. So your patient is diagnosed with breast cancer at 45, found has a VUS, how do you explain it? And happily I think half the people got right that it doesn't mean that this does or doesn't cause, but we don't know what this actually means, but still that's half. Okay so this is another survey done by another group, these are OBGYN residents, and they are taking a quiz, the quiz is specifically said on hereditary breast ovarian cancer, which gives away some of the answers here. Okay so I've circled again in green the correct answers, the inheritance pattern you can see, oops, only half of them, oops that's the wrong one back, sorry, only half of them could tell you the inheritance pattern of your CA1 and 2, this is the most common thing in adult genetics, and for OBGYN residents this should play, and frankly if they were going into OBGYN they should have paid attention to this in medical school, I also should say at some point like medicine trains you to take tests, if there's one thing doctors are really good at it's taking tests, you take tests to get into medical school, you take tests during medical school you could take tests to get boarded, so they should be able to take a test better than this. Okay so half dominant and about a third recessive, but then can you get it from the father's side and the mother's side, okay if 80% of people say it's either dominant or recessive then these should be the same, right? It's the same, like right or wrong they should at least be the same, be consistent. So this is a common thing, we come up with our patients don't understand that BRCA can come from the paternal side of the family, they think of their aunt has it, they don't need to worry about it if it's on their father's side, providers less so, but it also says they don't understand inheritance are they proposing maternal inheritance here? I mean it's not excellent, so how does it come from one side and not the other? So it's not a matter of just memorizing information but thinking, what does that inheritance pattern mean? Similarly they do an excellent job of knowing that breast ovarian cancer is associated with breast and ovarian cancer so that was great, but less so on what it's not associated with. All right so this is harder to read so I'll try and walk you through it quickly and I'm just picking out a few things on this table so this is a larger survey but it's the year 2000 in fairness so that's 18 years ago but it's at least 1,250 people and they ask people by specialty questions about BRCA one and two anyway. Okay so the first thing up in this corner is suppose your patient has this BRCA pathogenic variant I just have to correct, in your opinion could your patient also be a carrier which is again the wrong word because it would be harbor because carrier is for recessive disease but I didn't write this paper I'm just citing it and undermining the author is at the same time and so the correct answer is yes and the 37% of people got that correctly but if you go by specialty the primary care providers did not do particularly well only beaten to the bottom by the gastroenterologists and now in fairness the breasts are not their part of the body but the ovaries are sort of in their region. Okay so then the other question over here is what percent of breast cancer do you think is associated with these pathogenic variants and the right answer is less than 10% which is pretty generous range and again third of the time correct various by specialty primary care provider and gastroenterologists not scoring as well as other specialties interestingly the surgeons do really well on this so good for them. Okay one more question I'll bring your attention and that is a sort of a double negative in here clear guidelines are not available for managing patients with inherited cancer susceptibility mutations or disorders and the correct answer is to disagree and only 40% of people understand that 20% of people don't know if there are any or not but a lot of people are sure there aren't care recommendations for these patients so again not a great knowledge level for this incredibly common disorder. Okay so this is a case that I saw that I wanna make a point about time here so in medical genetics we see patients for about an hour sometimes 30 minutes but generally we slot in an hour and we take it and I have not had much feedback of people telling us they don't have enough information in fact when people come back for their results we're often reviewing informations for them again so this is a patient who had a BRCA I don't know if it was one or two pathogenic variant by color testing sent by her oncologist and she said to her oncologist I would like to have my children who are all minors tested for this and the oncologist said we don't do that end of discussion so the patient sent the testing herself because no one took the time to explain to her why we don't test children because the oncologist didn't have time for that conversation or didn't have the motivation to have that conversation so it was only after she sent her children's testing and got it back that she learned by literally curbside social conversation why we don't test these children that there is no management change till the age of 25 that what is not protected by Jenna and also you could have a conversation about the children's autonomy rights as well but because these conversations were not had with her she went ahead and did what she thought was right based on incomplete information because her provider didn't take the time to give her this information. All right so there are a lot of, yeah you think, we have an hour, there are a lot of patients who are seen by genetic counselors only in general these are patients who don't need an exam it's an incredibly important field we are told practice at the top of your license I might add by the same people who have us empty our own garbage and that is true so we don't wanna pay the janitors for that but genetic counselors make a half to a third of what a MD would make and so these are people you wanna use when you can and that's cost effective in medical care there is this great study by ARUP where they had genetic counselors review all their tests in 2010 and in particular they set a bunch of these tests aren't necessary and saved a lot of money by reviewing this test again saying that MDs don't know when to order and in particular not order a test there is a genetic counselor shortage this is easier to fix than to train the MDs in my opinion so getting to the end the commentary from Steve Gruber who is a gastroenterologist I believe but who does genetics of GI cancers the authors emphasize the absolute necessity of genetic counseling so in conclusion I'll let you read this I'm at the end of the time but you know medical genesis train more genetics is rapidly changing physicians are not adequately trained they do not understand the basics of inheritance many tests are not suited to other MDs including pre-authorizations test limitations inheritance pattern lack of compensation for all of those things lacks means that primary care fighters are not interested cause you don't get paid for a lot of the time you're spending and genetic counselors can be cost effective relative to MDs so I'll stop there and then Carol can rebut great thank you okay now we turn to the rebuttal so Carol will have up to eight minutes to rebut the statements of Dr. Jarvis two, eight minutes so this is being broadcast so there's two things I don't know if I'm allowed to say first of all where are gales in my shots of something that we can toast to when we're done and the second one is cause we shot and I said I was gonna say this cause gale wanted it you ignorant slut okay now we can move on the first one I believe the second one I don't by the way so somebody should be on their way to the bar as we speak Teji okay so the first thing I have to say is I believe my friend gale that you just agreed with me that primary care people should be involved because what you said is what you guys do is diagnose and release so diagnosing and releasing is by definition a consult so that means somebody sends somebody to you somehow someone gets to you you diagnose them and release them so if that's the time of it then I think what you're saying is PCPs have to be involved because who's gonna be there before and after the diagnosis and release and that would be folks like me so I think that we're agreeing on that that PCPs need to be involved before and after the diagnosis and release so the way I figure it is where PCPs don't know everything we don't get adequately trained in most things I would say if you talk to PCPs one of the major things we deal with is diet and exercise we get far less training on that in medical school than we do in genomics so there's lots of things we don't know and what happens is we get repeated we get better we get better so the more we see things the more we do things and that's how it works so I think the first thing is since we are the primary care people for before and after the catch and release first of all you need to help us know the basics so what do we need to know is the right stuff on up to date or other algorithms so that we can refer the right people to you and then when you come back to us we know what to do with them help us have simpler information I would still say that it's true that for a lot of the rare, serious genetic disorders we're never gonna get there and we don't want to when we can't and that's totally fine but for things again like PGX, chronic disease testing I don't see why we can't do that I'm not sure we need to refer people for PGX test for things like BRCA testing can you show me a simple little resource that'll give me that stuff that I know how not to screw up when I offer it to my patients because if so we can do that that's what we do with a lot of things one of the other 12 patients I saw on that day was somebody who had malaise, had fatigue everything was okay but she had this weird decrease in smell and I looked it up and I ended up getting a head CT and her whole skull was lytic lesions it ended up she had multiple myeloma so I remember that lack of smell was something that I should worry about no but I knew how to look it up and I knew how to get it and now she's in the middle of she's getting her chemo today so we can do some of the basics I don't think we need your help for the middle complicated stuff give us help for the more complicated stuff help us figure out who needs referrals and then make sure you get stuff back to us so that we can reinforce and follow after you release people and I see some of this stuff you're showing about how people screw up although I will say mostly Gail most of the people that screwed up seem to be GI people and oncologists and stuff like that I don't see a lot of primary care stories in there but you know this is how it is with diffusion of innovation right we did a survey 10 years ago where we asked primary care doctors to recognize pre-diabetes and only 13% of them got it right and then we ended up not publishing the study because we decided we didn't want more people making fun of primary care providers and sure enough right now I can't find a primary care provider who doesn't recognize pre-diabetes this is what happens it's early on but this is a time since you are releasing to us and we are the PCPs and we will be involved that you should help us and I give you back three minutes so that our drinks are being prepared Excellent thank you okay and now Gail will as usual have the last word for up to eight minutes Okay well see she had 15 minutes to prepare her rebuttal and I had a few anyway so I will say that the Saturday Night Live references really stratify by age and tell by the people laughing in the room who's our age and who's not alright so the first point I think is this question of you know is medical genetics and genomics exceptional and I agree that it is not exceptional I will say though what is routine in medicine is that we refer complex cases to our specialist colleagues and medical genetics clearly falls into that category so what are we doing now and as I said in our institution we you know where we are referred to we can't go out and catch them although historically I heard that was true that Arna Matulski walked around the wards and just consulted himself in the early days but we no longer do that but we do release people back to care some people are go to high risk clinics for high risk cancer clinics high risk cardiomyopathy clinics but many people go back to their primary care providers and that includes a lot of our bread and butter cases like hemochromatosis for example but that's you know and even hemochromatosis seems like should be relatively simple to you know diagnose and manage not necessarily need a geneticist but I followed one of my colleagues at a boards review course who was giving the hemochromatosis lecture and I was giving the very next lecture so I was there early as I always am and heard him say that hemochromatosis was an autosomal dominant disorder and I you know got up as a board review class and I said I'm gonna have to correct my colleague and hemochromatosis is actually autosomal recessive and he was still right there and he said no I had a father and son who both had it you know clearly couldn't be recessive and again you need to know how inheritance patterns work right so it's still possible in a common disorder to get a parent and child both affected with a recessive condition it's problematic I could honestly list you know for the whole eight minutes primary care provider screw ups because we tend to clean up after them and I mean we make mistakes in medicine all the time that's fine people make mistakes what's important is to know your limitations I had a provider who sent a genetic test and a patient it came back positive and then the provider like urgently you need to see this patient immediately because I have no idea how to explain this to my patient and you know on the one hand we're all like why are you ordering a test when you can't explain it on the other hand thank you for not doing something you don't know how to do thank you for sending us this patient I wish it had been a little earlier but because the test should never have been ordered as it turned out but at least the guy knew he didn't understand the results but unfortunately we don't always see that so what are the boundaries then and let's start with we'll start with pharmacogenetics because honestly you can have it speaking from my entire field and I will say that I don't think medical geneticists and particularly genetic counselors are terribly well trained for it honestly and I don't think that the implications of it are material that we own and I also think primary care providers have to understand pharmacogenetics they have to learn it and if you do enough pharmacogenetics everyone can have it so medical genetics referrals are not like HIV you know there's more than a million people in the country with HIV Carol probably know the exact number but there's not that many people with genetic test results at least yet pharmacogenetics so we're gonna scale up pretty fast and so I think that we will need to train providers in pharmacogenetics and again I don't think my field needs to own it and I don't think they're terribly well trained to own it I think a lot of what we do need to see is stuff that you can't get done in 15 minutes or stuff that providers don't understand I think this problem of explaining the test explaining the test results we can scale up with videos but honestly being in the room and talking to people is the most effective way to do that so far so I think that it really is a question of the complexity of the issue I'm not that hopeful that our providers are gonna get trained I'm not that hopeful that they're seeking out genetics education on their own frankly so I'm not sure that's gonna be helpful we have boutique practices in Seattle where they order genetic testing both array testing for risky things and color sequencing on every patient they do not do it very appropriately they do not explain the results very appropriately and we certainly have had patients who had like SNP arrays sent for someone who had a known pathogenic variant in their family that was not on the array and so there's a lot to be learned the difference between a genotype and a sequence just go around and ask your friends that and you'll find out that they don't know so you know what in the meantime should we be trying to do I think we need to educate our primary care colleagues and we've been trying to educate them on when to refer to us and then how to manage these cases and in medical genetics we even within the specialty we subspecialize it gets that complicated so I live in fear when Peter Byers goes on yet another sabbatical or God forbid retires because he sees hundreds and hundreds of collagen disorder patients a year I see a handful the primary care providers see none usually and so these disorders it means a lot to the patient when they come in with a rare disorder and they say well have you ever seen this before and you can say yes to them yes I have seen this I do know patients with this disorder I have managed it it's an incredibly high value and so even within our field we subspecialize so I think we are a specialty of medicine we are a subspecialty and that's the relationship that we want to have with primary care providers and you know hopefully we can move forward and have better education but also appropriate referral and frankly grow medical geneticists and genetic counselors in order to fill the need for genomic medicine thank you alright thank you to both of our debaters now that the debate is over we'll go back to Fox Studios for our discussions to break down the debate and so I'm going to turn it over to Laura Rodriguez for her first comments you didn't, ah-ha, ah-ha someone wasn't paying attention so the people that I have for the discussions are Mary and Howard and Laura so I am not I have an email that talks about that the genomic medicine working group folks that are not, that we're not involved in otherwise will actually be actively discussing them they were on the email alright so since there may have been a break in communication for which I am not going to take responsibility for I will offer you the opportunity but if you don't want to take it then we'll open it up for open discussions so