 All right, we're going to get started here. I'll be introducing for grand rounds today. And I'm very pleased to introduce Brianna Sawyer, who's our genetic counselor, who's on the staff here, working both out of the CTM, Greg Hageman's clinical and translational medicine office, and our clinical studies office here. And she's a very valuable resource, and she is a very well-trained genetic counselor who graduated about a year ago from the program here at the University of Utah. And she's going to go over all the indications for genetic counseling, the background for genetic counseling in ophthalmology. She's a great resource, and we're going to learn why we should be contacting her in our clinics and helping our patients. So, thank you for that, Brianna. Good morning. So my goal this morning is to illuminate how genetic counseling can be used here at the Moran Eye Center. And as many of you are residents, also, when you leave, how you could utilize a genetic counselor and to provide outstanding patient care here and incorporate genetic counseling into that. So to that end, like Dr. Bernstein said, I'll describe what genetic counseling is and how I perform it, as well as some examples of when you may call me based on each of your clinics. I will have some time for questions at the end, so I'll leave those for the end. So I'm going to start with just some of my training background. Many of you may not know what the training is for a genetic counselor. Then I'm going to talk about genetic counseling, what that entails. And then I'm going to go into genetic testing and the value and some of the barriers to genetic counseling and ophthalmology. And then I'm going to talk about genetic counseling here at the Moran, some indications for that and how to contact me with patient referrals. So my background, I have a Master's of Science in genetic counseling. As Dr. Bernstein said, I graduated from the University of Utah in 2011. My formal training during my program was in medical genetics, as well as crisis and short-term counseling. All my training in ophthalmology and inherited retinal and other conditions has been here on the job. So thank you to many of you who have been my teachers. I am board certified by the American Board of Genetic Counseling. I received that certification in September of last year. And I'm also licensed in the state of Utah. Not all states have licensure for genetic counselors. Utah is one of them, which means that here in Utah, I'm able to act as an independent provider, as well as to bill for my services. And that also means here in the state of Utah, you do need to be licensed to perform genetic counseling. So what is genetic counseling? This is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. And this process integrates interpretation of the family and medical histories to assess the chance of disease occurrence, or reoccurrence in a family. It also involves quite a bit of education about inheritance, about testing options, and about management prevention, and then some resources and research for patients with conditions. And finally, throughout this process, counseling is employed to promote informed decision making in patients when it comes to genetic testing or what family members to talk about, about their condition and how to adapt to the risk condition. So just a little brief information on who genetic counselors are. Where allied healthcare professionals are about 3,000 of us in the U.S., although this number increases greatly every year as we train more counselors. Over 96% of them have masters, about 2% of them have a PhD, although at the moment, they're not offering a PhD in genetic counseling. Half of them are between the ages of 25 and 35, so we're a pretty young profession, and we're growing. We are predominantly a Caucasian field, and you can see a majority of us are female. Although in the state of Utah, we employ actually a large number of male genetic counselors, so. And about a third of genetic counselors have been in the field for 10 years or longer. So Time Magazine recently produced an article on nine jobs of the near future. Genetic counseling was one of these jobs that they proposed would be very important in our future, and as many of you are learning, as personalized medicine becomes more of a reality, genetic counselors will become much more important in interpreting that data and helping families understand how it impacts them. So genetic consultation includes a family history collection of the family history, as well as analysis of the family history, also discussion about recurrence risk. Occasionally, I'll talk about reproductive counseling, although you can imagine here at the Maran, I haven't done a whole lot of that. Patient education, like I said previously, is the majority of the session. I'll offer some anticipatory guidance of what patients might be able to expect with either genetic testing results or with a clinical diagnosis. And then if indicated, I'll discuss genetic testing. So like I said, one of the first elements of a genetic counseling session is a family history, and there is standardized notation. This was proposed in 2008, and here's the standard symbols that genetic counselors should be used in actually all medical professionals who take a family history so that people outside of your clinic are able to interpret your family history. Typically, you take a three-generation family history and I try to always get three generations and I'm talking to a family. Here in Utah, many families know quite a bit about their family history, so it's quite a pleasure to take family histories here. They tend to know the answers to most of the questions. So the value of the family history, it can help us identify appropriate inheritance patterns for the family. Many people might argue that it's not as valuable in simplex conditions where there's an isolated cases in the family, although my argument would be it's still very important. Although we are in an ophthalmology clinic, I do address family histories of cancer, heart disease, other things that might require further referral. Often, patients will only have one thorough family history taken throughout their medical career. So as a genetic counselor, I think it's important to address all hereditary disease and make appropriate referrals. So throughout this presentation, I'm gonna work in some case examples and these are patients in general that I've seen in them last year. They've all been de-identified, but just so that I can illuminate some of what I'm talking about. So I recently had a 12-year-old male who presented to clinic with a reported diagnosis of achromatopsia. He had photophobia and nystagmus as well and a genetic counseling consultation was requested as part of the patient workup because it was noted that he had some family history of achromatopsia. So when I took his family history, his mom told me that her vision was good. She had had a thorough examination by an ophthalmologist, but that her father had had a condition that she called achromatopsia. She also had a paternal uncle who had achromatopsia. So this family history struck me as more X-linked as opposed to recessive and achromatopsia is a recessive condition. So I evaluated what else this could be along with the physician I was working with. So this really indicated because there wasn't male to male transmission, like I said, this was clearly X-linked, that this was probably blue-cone monochromatism instead of achromatopsia as the patient had previously believed. So this made it more possible for me to explain to the family how this would be passed to future generations. And after further clinical evaluation, it was felt that BCM was an appropriate diagnosis for this patient. So once I've taken a family history, I perform risk analysis as well as review the family history with the patient. I like to walk the patients through this, explain to them why I'm coming up with what I'm telling them. This risk analysis can also help provide differential diagnoses if there's not a clear clinical diagnosis. Like I said, this can offer appropriate risk to the patient. In many of the conditions in ophthalmology, this can be complicated by penetrance and variable expressivity, which I'll touch on in the next slide. The other advantage to reviewing this family history with the family is that I can identify other patients who might benefit from an ophthalmic evaluation, patients who are at risk but wouldn't necessarily have already presented to us. So this encourages new patients to come in and be evaluated. So penetrance and variable expressivity, like I said, can be very common in some of these conditions. Penitrance, as many of you may know, is an on-off phenomenon. You either have the condition or you don't, and everyone can carry a mutation, but they might not show clinical features of it. Variable expressivity has always been described to me as more of a dimmer switch. You'll have varying degrees of the condition, age of presentation, or maybe if you're talking about more syndromic conditions, someone might have ocular manifestations, someone else might have other manifestations. So here's another example of a family I've worked with. And this is a family who has RP. Any guesses on the inheritance pattern? And I'll discuss more inheritance patterns, but I wanted to ask the audience a little bit. Anyone? Good, good. And the reason we would propose autosomal dominant is we do see male to male transmission, which I will keep bringing that up because it's an important thing to look for. So you can see the 62-year-old woman isn't manifesting any features of retinitis pigmentosa, but she does have a child who has presented with RP. So she is displaying variable penetrance. There's also some variable expressivity in the age of onset for some of these patients. And another thing to know, in the third generation of this family, every single person would be at risk for developing RP and could value from either genetic testing if we know the familial mutation or from an examination. So like I said, I don't do a lot of reproductive counseling although I have a lot of training in reproductive counseling since that's where a majority of genetic counselors do practice. So in the previous case example, I would discuss with this family that each of their children are at 50-50 risk to inherit the familial mutation. I would review options about what that means for their children. I might discuss either an amniocentesis during pregnancy to identify the mutation during pregnancy and then they could talk with their physician about options. The other thing that is available to many patients with hereditary conditions would be in vitro fertilization with pre-implantation genetic diagnosis where they would evaluate the zygotes before they're implanted to see which ones carry a mutation and which ones don't and implant accordingly. So these diagrams are some of the things that I use in patient education. Much of my training during graduate school, I was able to use visual education aids. That has obviously changed a bit, working with patients who are visually impaired. So I do sometimes still use these aids with family members or with other people who they might be useful for, but I have also had to learn to be very clear in descriptions. So this is what I might use with a family with autosomal dominant inheritance. And once again, you can see the male to male transmission. We see three generations of affected individuals and we see about an equal number of males to females who are affected. So that's typical of autosomal dominant inheritance. I also will discuss recessive inheritance with patients occasionally. And as many of you know, you'll have a carrier mother and a carrier father who don't display any symptoms of the condition. You might see one to two affected individuals in a single generation, but we don't see vertical transmission. So from one generation to the next, generally. Finally, ex-linked recessive inheritance. If we have a carrier mother, each of her sons will have a 50-50 risk of having the condition in the family and her daughters will also have a 50-50 risk of being carriers like their mother. If we have an affected male, he's not at risk of having any children who will be affected with the condition, but all of his daughters will be carriers. So it's important with these families to explain to a father that when his daughters do approach an age where reproduction is an option, that they speak with a genetic counselor about that. So here's a typical family history and once again, we're missing that male-to-male transmission. Mitocondrial inheritance. I have counseled very few families on this. It's not very common, but this is also called maternal inheritance. As you know, mitocondria are only passed from your mother. You don't receive any mitocondria from your father. So if a father is affected with this condition, we would never see affected children and that's what would alert us to mitocondrial inheritance. A mother who's affected will have, all of her children might inherit the mutation, although due to hetero-plasmy, they may or may not show symptoms of the condition. So once I've reviewed inheritance with the family, I discuss common features of the condition, including some age-related symptoms, so what they might be expecting in the future, I provide them with semantistatory guidance. And sometimes I will be able to discuss what to expect with X diagnosis and a certain genotype if we've done genetic testing, which leads me to genetic testing. So why genetic testing? Genetic testing can help patients and medical professionals assess the familial risk. It can be very helpful in simplex or isolated cases. Sometimes it can be the best tool to determine the diagnosis if it isn't as clear clinically. And in some conditions, it can guide medical management, although not in all. It can be very challenging for some conditions. In RP, there are over 66 genes that can be associated with it, so if we have a simplex condition, where to start is kind of the challenge. For some conditions, like retinoschesis, retinoblastoma, they're monogenic, these are pretty easy to perform genetic testing in. So another example of the value of genetic testing, so this is a family that presented to Dr. Bernstein, and as you can probably see, this is pretty extraordinarily X-linked inheritance. We see the three-carrier females, they all have affected sons. This is a little bit more than we would expect, because normally we expect to see about half of the sons affected and half not, but this is sometimes a family history that I do take. So then a few years later, another offspring of this family presented, and this was a 17-year-old female who presented with symptoms of RP. They were somewhat mild, but she was still presenting at 17 years of age, which made us wonder if this was dominant inheritance with reduced penetrance. Now with the three females not manifesting any symptoms, it seemed unlikely, but certainly a possibility to consider. So genetic testing was requested through Ijean, and the results came back, oh, this is my next one, the results came back with an X-linked mutation, so we were able to tell this family that this was in fact X-linked, and even though previously dad had been counseled that it was unlikely that his daughters would have RP, that occasionally we do see manifesting carriers, and 17 is very young. Normally manifesting carriers and RP are much older, so this family history gave us a lot more information to have the genetic testing. Here's another patient that I, this is one of the first families I worked with, and he was a 50-year-old male. He presented with hand motion only, and he did have a diagnosis of RP. He had had this diagnosis for a number of years, and he reported this family history to me. There are many affected females and many affected males, so what modes of inheritance might we consider in this family? Okay, good, I'm glad you said that. That's what I thought as well. I felt like there were a large number of females who were affected and they were diagnosed at pretty young ages for those that we had information on. This gentleman didn't have a lot of information on his family history, but we did see females who were diagnosed in their 20s, so it seemed very appropriately autosomal dominant. So when I counseled this patient, I explained to Dad that all of his three sons were at a 50-50 risk of developing RP. Mom was extraordinarily concerned about this risk because she didn't know who would take care of her sons, what they would do. So we once again requested genetic testing through Ijean and they identified a mutation in RPGR in open reading frame 15. It was a frameshift mutation. So we were then able to tell this family the patient that none of his sons were at risk, which was a huge relief for his family. This family does display a large number of male-festing-career females. So thought something to always keep in mind when I'm counseling that females can be affected from time to time. So some barriers to genetic testing. I've already touched on that few conditions are monogenic. Many of them are very complex and have a number of genes that might be causative. The other huge drawback, especially in ophthalmology, is that cost is prohibitive for many of these tests. And currently, insurance companies are reluctant to pay for testing because often they feel that it's not gonna change our medical management. What we do clinically is exactly the same whether we have those genetic testing results or not. Now the families don't always agree because for them, knowing the diagnosis, having a name, being able to look up resources online and participate in support groups for their specific condition can be very important. But an insurance company looks at it as it's not gonna change medical management. Now there are some conditions where it does change medical management. Baylor recently created a panel for retinitis pigmentosa testing that has 66 genes on it. And the current cost of it is $5,800, which once again, insurance isn't usually gonna cover and most patients don't have the resources to pay for testing like that. So the genetic testing process, this is a collaborative process between myself and the referring provider. I'm not able to order genetic testing, so that would be the responsibility of, yeah, go ahead. Yeah, yep, and I work on the prior authorization process with those insurance companies. I always do prior authorization because I never want the patient to get stuck with a $2,000 bill. So in general, with a good argument that this really does alter medical management, they're very good at covering them. Most insurance companies, so. So the next piece in that process is all identify the appropriate test as well as the appropriate laboratory to perform that test. And I'll also make sure that we're testing the appropriate candidate. This would be someone who is affected with the condition. I often have families come in who have a history of the condition and say, I want genetic testing. It's not gonna be that useful on someone who doesn't have any symptoms of the condition. Like I said, I do insurance prior authorization, which is not my favorite part of the job, but it's very important for patients. So I can let them know whether this will be covered before testing is performed. I arrange and facilitate testing, including the blood job, pre and post test counseling. And then once we receive results, I review those with the provider, as well as the patient. And then I'll perform a literature search to see if there are any genotype phenotype correlations that might really help this patient out. If further medical management referrals are indicated, then I will work on these referrals and send the patient to the appropriate clinics. And then I'll also identify possible research or clinical trials that might be appropriate for the patient. And I leave that door open with my patients. I encourage them to continue to follow up with me every six months to a year if they are interested in trials and I can help kind of evaluate what might be out there since there's always something new going on. So here's another case example. I have a special interest in Libers and General Amorosis that actually have a family history of it, which is what made me interested in ophthalmic genetic counseling. So I really enjoy working with these families. So I had a 15-month-old patient present to pediatric ophthalmology with nystagmus. He had an exam under anesthesia and his ERGs indicated that he did have Libers, Congenial Amorosis. His parents were very interested in pursuing genetic testing because they wanted to be able to enroll him in any research studies, which may be appropriate. Many of the research studies that are going on now, one requirement might be that you have positive genetic testing. So this allows people to participate in these research studies. So once again, this is a condition where testing is complicated. There are currently 17 positive genes associated with LCA. Carver Laboratories offers a good testing panel for LCA and they also have a program called Project 3000 where patients can receive financial aid if they can't cover the full test of, the full cost of testing themselves. I did do a prior authorization for this family and it was denied. So we had to work through Project 3000 to get this test covered. So this little guy came back with two heterozygous mutations in the CEP290 gene and through some further research, I came to understand that this can be associated with renal abnormalities. And the physician who I was working with as well as myself felt that a referral to pediatric nephrology was appropriate. Now I was able to find a wonderful database that showed all mutations that had been identified in CEP290 and it did indicate that one of his mutations had only been seen in isolated LCA, but we still felt that it was appropriate to have an examination by pediatric nephrology. So another thing that I spend a lot of my time here doing is offering patients genetic testing for age-related macular degeneration. And this is testing for patients who present with dry AMD and are more curious about their risk to develop curatal neovascularization. This genetic test that we offer looks at 13 single nucleotide polymorphisms and it helps refine the risk for the patient. So this test looks at three high-risk SNPs and then 10 what we would call protective SNPs and then comes up with a risk number for the patient. So this can also help define further clinical management. If we do find patients are at high risk, so 75% chance of developing CNV or over, then they're followed every six months instead of every year. This also we found that for a lot of patients with dry AMD, the uncertainty of the future and what might happen to their vision, this has really helped some of those patients evaluate that a little bit better. This also helps some patients become a little bit more compliant with taking their vitamins, having a healthier diet and things like that. So indications for genetic testing and counseling, a family history of a hereditary eye condition, a clinical diagnosis that you feel is appropriate for testing or counseling, a patient who would be eligible for hygiene and I'll discuss hygiene in a minute, a patient who would like testing and can pay out of pocket if it's something that clearly would not be paid for by an insurance company or a patient who would simply like more information about their condition. Some many conditions are multifactorial and although we might not have genetic testing available for them, we can provide them with more information. Another side note, genetic counseling generally isn't covered by insurance, although some insurance companies we've found do cover genetic testing or excuse me, genetic counseling, Medicare does not. So for any Medicare patient, this would be a self-pay service. So that's a consideration. So I, Jean, many of you guys have probably heard of this. It's a research project run by the National Eye Institute. The goal of this study is to facilitate further research by providing greater accessibility to samples, DNA for rare ophthalmic conditions. Now what the patient gets in return for giving some of their blood is genetic testing offered free of charge. Currently they offer testing for over 30 diseases and for some conditions, multiple genes are tested. Patients do receive results. All of these are performed in clinical laboratories who are clear approved. The turnaround time is not particularly expeditious. It takes one to two years to get these results. So occasionally families are interested in paying out of pocket so that they have answers sooner. Most families say, I've been living with this for X amount of years. Another one to two years isn't gonna change anything. So now to get into some appropriate referrals for some of your clinics. So for cornea, a majority of corneal dystrophies are inherited in an autosomal dominant manner, which is important for families to understand what that means for their offspring. Some are recessive like macular corneal dystrophy and some are X-linked. A large number of corneal dystrophies are caused by the TGF beta gene. And then genetic testing has been complicated in some corneal dystrophies by some of the synonymous names for the same corneal dystrophy. As we've learned more about the underlying molecular cause of many of these corneal dystrophies, we've found that some of the phenotypes that we previously thought were distinct really aren't when we understand the genetic basis. So IGN does do testing for the TGF beta gene as well as some others. And then some, I have had one patient recently self refer because they wanted more information about macular corneal dystrophy. They were planning on having children and wanted to know how that might affect their children. Although clinical testing isn't available for MCD, I was able to do some risk analysis and provide a good risk number for this family of having a child with macular corneal dystrophy. So glaucoma, early onset glaucoma is an area where genetic testing could be very helpful. Primary congenital glaucoma is about one to 5% of glaucoma. It occurs in one in 10,000 people in the US and can be as high as one in 1,250 in some ethnic groups due to consanguinity. This is usually autosomal recessive and we've currently identified three loci but only one gene. And this gene accounts for 20 to 40% of primary congenital glaucoma. So if a patient's referred for testing for primary congenital glaucoma, there's a decent chance that we might find the causative gene. Juvenile open-angle glaucoma, this has autosomal dominant inheritance and we've also identified one gene associated with it that accounts for 10 to 33% of cases. So once again, this could be valuable testing for families. So adult onset glaucoma, as many of you know, is a multifactorial condition. So genes as well as other risk factors play into this condition. 75% of cases are open-angle. It's genetically heterogeneous. We currently have 17 different loci identified and then there's one gene that they've identified to be associated with normal pressure glaucoma which interacts with the MYOC gene which we see also as causative and juvenile open-angle glaucoma. So eye gene testing unfortunately is only gonna test for both of the younger onset forms and they test for all three of the genes that we know of. So it'd be important to refer patients with either those forms of glaucoma for eye gene testing. So in retina, there are multiple hereditary conditions that are appropriate for referrals. Majority of the patients I see do have retinitis pigmentosa. In RP patients, about 40% of them have a simplex case where they're the only presenting family member and in these cases, it's not uncommon to find an X-linked, a dominant or a recessive mutation and like I said, there are over 66 causative genes which makes genetic testing complicated. Currently, eye gene will offer testing to patients who have dominant RP but they are excluding patients with, excuse me, they offer testing to dominant as well as X-linked RP. If it's a simplex case, they're not currently doing testing although they're hoping to develop a test soon. Stargate disease is another condition that I see quite a bit of. This is an enjoyable condition because it's monogenic so the counseling's a little bit more straightforward. It's caused by ABCA4 mutations and about a third of patients that we do send for testing have only one mutation identified in the ABCA4 gene. And finally, retinoskesis would be another appropriate referral and there are many others. So in pediatrics, I've had the pleasure of working quite a bit with Dr. Hoffman and Dr. Dries. They refer all retinoblastoma patients to me. This is one area I hope to reach out more to community clinics because genetic testing is very important in patients with retinoblastoma. The reason it's so important is we want to identify whether these patients have germline mutations, mutations throughout the body or whether the mutations just occurred in the eyes. And when we send testing, we send eye tissue as well as blood so they're able to identify the mutations in the tumor and then see if those are in the blood. Now, when it comes back negative and we would propose that this is isolated to the eye, there's always a small, small chance that there's mosaicism but this is very small. So this can alter medical management, it can alter surveillance as well as adults. If they don't have germline mutations, we're not gonna recommend further surveillance for osteosarcomas and other cancers that have been associated with RB1 mutations, germline RB1 mutations. Anoradia is another important referral. Anoradia can be caused by either a mutation in PAC-6 or a deletion of the PAC-6 gene. And until we know the genetic etiology, these patients need to be screened for Wilms tumor because of the association with Waggar, which is Wilms tumor, anoradia, general urinary malformations as well as retardation. And this is just a deletion on chromosome 11. So either finding a point mutation, a single mutation in PAC-6 or discovering a cause that doesn't knock out this part of chromosome 11 is important for the patient's medical management. Another condition I've talked about a little bit, I do see families with Leibers-Kinchenal amaurosis and can perform testing for some of these families. In these families, although testing isn't necessarily gonna change medical management that much, it's more important for research opportunities that some of you might know they're doing, my mind's totally drawing a blank, gene therapy, sorry. Gene therapy for patients who have RPE65 mutations. So identifying that this LCA patient has a mutation in RPE65 might make them eligible for that clinical trial. And many of these trials, unfortunately, don't offer genetic testing as part of the trial the patients need to have it previously. So neuro-ophthalmology, some appropriate referrals would be ocular albinism, which is an excellent condition. There's a gene that accounts for 90% of mutations. From the literature, I've read that carrier females can have mild clinical features that can be seen under exam. Oculocutaneous albinism would be another appropriate referral, although some of these patients might have already been seen by medical genetics. If patients have been seen by medical genetics, they have had thorough genetic counseling, so I probably wouldn't need to be called, although if they have questions, I'm more than happy to answer those. So there are four types of ocular cutaneous albinism. They're all autosomal recessive, and there are gene panels available clinically that will do testing for this, as well as I gene, which tests all four recessive genes and the X-linked gene. Libre's hereditary optic neuropathy is another important condition. This is one of the few conditions that has mitochondrial inheritance. There are three common mutations that I gene will look for, and this condition, as well as any mitochondrial condition, can be complicated by hetero plasmy. And in this condition, there's a male-to-female ratio that we wouldn't expect to see with a mitochondrial condition, and there are a number of hypotheses as to why. So I gene also offers a mitochondrial gene panel which covers many of these conditions listed here, although many of these patients might have already been seen by our metabolic clinic located at Primary Children's Hospital, so this testing might not be indicated often, although from time to time it will. So now that you're all excited about having me in your clinics, how to get ahold of me is what you're gonna need to know. So often I am at my desk and reachable by phone, although as I've gotten busier and have more things that I'm doing here at Moran. Smartweb's the best way to get ahold of me. I keep my cell phone on me at all times. So if you have a patient who's here in clinic and is willing to stick around for another 30 to 45 minutes, then I'm happy to try to see them that day. Now if you can't get ahold of me if I'm unavailable, then the best thing to do is to have some of the texts in the clinic. Email me the patient information and I'll contact the patient and schedule a follow-up visit or answer some questions by phone. So another thing that I'm working on in this coming year is a research study on genetic testing and asymptomatic macular generation. For my master's research, I worked on asymptomatic testing in Huntington's disease population, so this is something that really interests me. So this study is in the early planning stages. We're still hashing it out, but we're hoping to recruit patients who do not have AMD, both with a family history and without a family history. Patients will be between 29 and 50 years of age, although that's not exactly set in stone yet. So our study questions are, does genetic testing help asymptomatic individuals evaluate their risk and change behaviors that could increase risk? Does it really lead to changes in behaviors like smoking, obesity, things that we know put you at greater risk for AMD? And then we are interested in understanding, does genetic counseling help people understand and assess their personal risk for AMD? So when they come in, how much do they know versus when they leave and have had some genetic counseling and we're hoping it's quite a bit that their knowledge has improved quite a bit. And then understanding before testing or counseling how patients with a family history of AMD, what they think their risk is for AMD versus post-test and how that's changed. So our study designer, patients will be randomized into a testing or node testing group. They'll all receive a standardized genetic counseling session. I'll do the same thing. Although in the testing group, they'll receive a little bit more extensive counseling about genetic testing and the implications of genetic testing. And then we'll follow up at six month intervals to evaluate what their responses are, whether they've had some behavior modification and then kind of just how much they remember from the counseling. So my goals for the next year, one of them I'm starting today, hopefully, is to expand services and to additional practices here at the Moran Eye Center. I would hope that if I gave this presentation in a year that more of my examples would be outside of retina and I'd have a much wider range of patients that I'm seeing. I'm also gonna work on advertising genetic counseling here at the Moran to outside community clinics as well as other providers that might benefit from sending their patients for genetic counseling. I'm also going to work on a Moran-wide database that'll include information about family history because I'm now collecting so many of these family histories it would be nice to have them in a database for many people to be able to work with. I would include phenotype information and we actually now have a large, we have quite a bit of genotype information because we've received so many results from hygiene testing so that would be incorporated as well. And this could help many of you with further research studies if you're interested in specific genes or conditions. So I just wanted to highlight for some of you some helpful resources. If you are seeing a family with a hereditary condition you might already know about these but OMIM, online Mendelian Inheritance of Man is one of the resources they use the most. Gene test is a resource where you can just get a good overview of conditions. It also has a little piece on genetic counseling, what families need to know although I would call me instead so I can work with the family. Retina is a great database for checking to see what genes have been identified in retinal conditions. There's a fantastic textbook that has really gotten me through this last year and taught me quite a bit called Genetic Diseases of the Eye. I do have a copy of that, I'm willing to share although please don't let it leave my desk, I would be lost without it. And then there are lots of other interesting databases like there is a database for SEP290, you can look up mutations and it has a lot of phenotype information. As far as patient resources, if your patients want some additional information, the University of Michigan Kellogg Eye Institute has a number of patient friendly booklets on many of these conditions as well as podcasts of those booklets so the patients can listen to some of these resources. You probably all know how wonderful the Foundation Fading Blindness is or for many of my patients in this direction who have a new diagnosis. And also Genetics Home Reference is very patient friendly and really extends outside just ophthalmic conditions if they have questions about a family history of another condition. So some of my references and as promised some time for questions. Go ahead. I have one decision, individual decisions about family planning, dating, what's the significant impact? I mean I think genetic testing certainly can have implications for families. In ophthalmic conditions I haven't noticed that it has quite as big of an impact on reproductive decision makings such as pursuing amniocentesis and either going down the route of termination or adoption, things like that. I haven't seen it be as much of an impact in ophthalmology but certainly in other conditions in metabolic conditions or in other types of conditions that are life limiting it has much more of an impact on families as opposed for decisions that they do make or with a lot of the Huntington's disease patients that I worked with they would, many of them pursued in vitro fertilization with the pre-implantation genetic diagnosis because they didn't want this condition to continue to run in their family. So it's quite rare I would say in ophthalmology just because of the difference in many of these conditions but it certainly can have an impact on families in their decision making which is why if a family is still in the family planning mode, if they are still planning on having children or partway through their process of having children this is something I certainly discussed with them. So a question I've been asked is you and the one that we most commonly see is obviously macrogeneration of which what is likely to cause someone if they indeed both have counseling with you and at the same time, don't test them? Yeah, and I answer that question. The Medicare insurance. Right, right, and I'm asked that question almost on a daily basis. So Medicare does in fact cover sequinone testing and I'm quite surprised by that. Medicare is known for not being great at covering genetic testing. They cover the sequinone test 100%. So these patients don't have any responsibility for the testing. The genetic counseling is $80 and that is billed directly to the patient because Medicare won't, they don't recognize genetic counselors as providers currently which is something that the National Society of Genetic Counselors is working on that would really make billing a much greater source of revenue for many counselors but they would be responsible for that. Now what if they have a gap policy message? That would usually just follow the Medicare guidelines and it's going to be $80 in the testing itself. Yep, if they have commercial insurance, if they're younger, I have seen some patients who aren't Medicare age. The laboratory handles all the insurance billing for the test which is wonderful for me. If they have commercial insurance, the laboratory has a guarantee that if the commercial insurance denies the test, it's $25 would be the most the patient would pay out of pocket which indicates that their reimbursement is probably quite high for these tests and then the patient would be responsible. Well, let me take that back. If they have commercial insurance, I will try to build the insurance for the genetic counseling and some insurance companies like Select Health do reimburse for genetic counseling so they may not be responsible for that although I always warn them that that might be a fee associated with it and that's part of the counseling process is making sure the patient understands that and incorporates that into their decision-making, so. So just the latest on the importance of the genetic testing for macular generation is that the information's getting stronger and stronger now. It's incredibly overwhelming that if your homozygous risk of chromosome tenex during one or two, your risk of dying from one. So much so that by the time we get to the macular generation stage, the ratio of male to female on the condition that it's more than just a male who's not as likely to die from it. But more we do have this, more we see how these things correlate and there's tremendous impact. Where you do counseling, you automatically see these patients are enrolled or we should definitely have them. Yep, absolutely. And this year, since I am working with the CTM, I've become even more aware of enrolling these patients and have kind of helped in that process as well. So I get both sides of it. And treatments in the future, and part of the reason I think that all these different studies are failing is is because then I'm taking this genetic, or genetic, into consideration about their diseases and a specific form of treatment along groups in the future of treatment is clearly in the personality of medicine. So I'm gonna predict, you won't be giving this kind of lecture when you're gonna be meeting a team of people because you're gonna have to know what it is you have and it's gonna be very important and very important for the area of the issue, so. Yeah. We're just on the beginning of that personalized medicine of this area to be very clear. If you've got homeosome 10 disease, particularly if it's pure, it's a different disease. Often with no drusen, very often with no obvious RPD changes, often with particular sutures and that other than infrared easilliness, they look normal. Slow down, we're pretty good in graph. And for residents, since most of you won't practice here in Utah, there are a handful of genetic counselors across the US who like me practice an ophthalmology, although there aren't many. This is a pretty new specialty. But there are, through the National Society of Genetic Counselors, if you ever had a patient who needed genetic counseling, you could look one up in your area and all genetic counselors should be able to handle a case like this either by contacting someone who does specialize in ophthalmology or others. So there are resources once you leave the marant. Anything else? Yeah, I'm just curious about your treatment. You know I haven't considered it yet, but I'll have to kind of check that in my mind and mull over it a little more. So, and with our non-testing group, we are going to offer them testing once our study's closed. So we're not gonna leave those people hanging and hoping for genetic testing. We will follow up with them. So, but thank you, that's a good suggestion. Okay. We'll have to chat more. Thank you. Can I get a copy of your talk for the residents that want here? Yeah, can I, would you have it on your playlist? Just email it to me. Oh, that's fine. Yeah, that's fine. That's fine. Thank you so much. Sometimes I'm gonna have to get together with you. Unfortunately, I've got to go to the U.S. being catered, so I don't have to go to the U.S. Okay. One of your areas, the retinolastoma that you've come approach with, you may have now or never, I'd say, in the Gulf. So we don't need genetic testing in part because genetic testing is on occasion. Okay. We'll see if you've got it. That's final. Yeah.