 Alright and last but certainly not least, we have Ms. Emily Spoth who's going to talk to us about ocular genetic counseling. I feel like I need to advocate for the bees after that. Plant flowers, bees are good for us. My name's Emily Spoth. I'm a genetic counselor and I've been here at the Moran and I have trouble projecting. There we go. I've been at Moran for several months now. I started in July. I just want to talk a little bit about what I have done here. Kind of the patients I've seen and what the typical genetic counseling session kind of looks like. So fortunately for me, because strangers ask me a lot what I do and it's really hard to describe, our professional organization has come up with a definition of genetic counseling. And I think it's kind of appropriate that it's lengthy because I wear a lot of hats and I do a lot of things. But essentially what this boils down to and I'll let you read it is giving individuals all the information they need to make informed decisions about their medical care and genetic testing in the context of a genetic condition. So there's a lot of different components but ideally I would make genetic information which tends to be complex, easy to understand for a late person. And genetic counseling really arose from the fact that we know that individuals in the general population tend to overestimate their genetic knowledge. Most people have a general understanding of genetic terms and concepts but beyond that, not so much, which is understandable. So my job is to make it easier to understand for them. So at Moran, this was kind of fun for me. These are the patients I've seen sort of broken down by what they have. And I've primarily been working in retina. So the vast majority of my folks have retinitis pigmentosa. And then things kind of make sense here with prevalence. So our folks with cone rod dystrophies, rod cone dystrophies, Stargardt, Usher, that kind of thing. Arbitra and apathy folks, a lot of stickler syndrome, oculocutaneous albinism, that kind of thing. And then some tiny little slivers that didn't quite make the cut to get words. Congenital cataracts, corneal dystrophies, that kind of thing. So primarily retina is the folks I've been seeing but kind of open to anything. When folks come to me, this is kind of a breakdown of what happens in a session. I do pretest counseling for folks who either haven't had genetic testing or they had outdated genetic testing needs updating. I love to do these sessions in person. They tend to last anywhere from 40 minutes to an hour and some change depending on how many questions people have. And it's nice to have that length of time because you can really establish a rapport with a patient and make sure that you're answering all their questions. Lots of family history, personal history, listening to their story. If it's someone who maybe they've been having some night vision issues and all of a sudden they get diagnosed with RP versus they've had RP for 30 years and they're getting updated testing, it can be pretty different. So you have to tailor a session towards who your client is. Big ones that people obviously always have questions about is the chances for family members or their kids to be affected with a similar condition. And there's a lot of misconceptions surrounding this, so this tends to take up a significant portion of time. If it's recessive, if it's dominant, if it's X-length, kind of nail these down really good for people because there's a lot of misconceptions about siblings and children and their chances of having the same thing. Another important piece of pretest counseling is explaining the test, the scope of the test, what it can tell us, what it can't tell us, what are the pros of the test, what are the limitations of the test, and then really if insurance will cover it, that kind of thing. And then GINA, for anyone who's not familiar with GINA, this is a law. It's called the Genetic Information Disclosure Act. It protects folks like a genetic testing. So we always talk about GINA. As far as the insurance piece, insurance has been challenging to deal with for genetic testing ever since we started doing genetic testing. Something that has been super helpful has been FFB's Project MyRenna Tracker, which you may or may not have heard of. This actually provides genetic testing for folks with any of these conditions listed here. They cover the cost of one of our more popular labs, Blueprint Genetics Inherited Retinal Dystrophy Panel, which is 266 genes. And this is a great panel. I like this panel. When you think about genetic testing, you always make sure you want to order the right test. And doing a really broad comprehensive panel can be great for someone who has, you know, kind of a broad differential. But this is sometimes what happens. This is actually a report from one of my patients, and this is not even all of their variants. Well, if you look on the right-hand column all the way over there, all of these gene changes are what we call variants of uncertain significance, which I explained to my patients is a very fancy way of saying we don't know what this change does. We don't know if this is a cause for their condition or if this is just a change that makes us different from each other. So the larger the panel you order, the more variants of uncertain significance you're going to get back, which makes it kind of onerous to interpret. So that's kind of been, you know, a limitation of doing a broad panel test is that it's harder to interpret. When a patient gets a report back that looks like this, they have no idea what it means. And interestingly, this patient also had two pathogenic variants or mutations and two likely pathogenic variants. So this is an interesting case, but this really falls on, you know, genetic counseling trying to understand what this means for someone and to translate into language they can understand. It's interesting in the realm of genetic counseling, different specialties do different things with the U.S.s. The folks in Cancer ignore them entirely. We don't have that luxury here because it's very possible that maybe one of these for U.S.s is actually an answer for somebody. So you kind of have to think about all of them. Then post-discounseling, I typically do over the phone. If I've had the honor of meeting folks in person before, I typically ask them. I say, usually I do it over the phone. If you want to come in, we can schedule something. But most people prefer to do it over the phone. We do a quick review of what we talked about last time, genes and inheritance. Then we talk about the results and what they mean. For some folks, there's great literature out there about age of onset, rate of progression, that kind of thing. Not everyone gets that. Out of 266 genes, a lot of genes that don't have very many papers written about them. But anything, I can tell them about what might come. You always have to stipulate that everybody is different. There's incredible variability even within families with some of these gene changes, just other factors that influence all those things, rate of progression, that we just don't know about. Having a gene can be really helpful for folks, especially now. We've talked in grand rounds a lot about gene therapy. So if there's a research study or a clinical trial that's specific for their gene or their gene change, facilitating, getting them hooked up with research coordinators, getting records sent, that kind of thing. Follow-up testing. Sometimes we have to do testing of family members to try and understand where variants are coming from. I always write a summary letter because the reports are incomprehensible to a lay person as far as write what it means. And then family member testing. And this can get either it's really straightforward or we have to talk about why we don't do pre-symptomatic testing in minors for adult onset conditions and that tends to be something that comes up a lot is family member testing for folks. This is my contact info. I want to stress that I'm only at Moran on Tuesdays, Thursdays and Fridays, so I'm not here right now. I'm at Neurology. I work in Neurology on Mondays and Wednesdays. You guys share me with Neuro. And if you have a patient that you'd like to touch base with me, the easiest way to have that happen is to just shoot me an email about them or send me their chart in Epic. There is an Epic referral for me. It doesn't work. I don't know where these go. I don't know if they still go to Breonna or what, but don't use it or use it and then also send me an email. We're trying to fix that, so they come to me. But right now, I just reach out to patients and sort of explain what they can expect. And then if we need to come in and have a session, I have my own schedule that I can see them sort of separately. Okay, that was a brief overview about Genine Counseling. If anyone has questions, I'm certainly happy to answer them. Question, Emily. So with all the direct-to-consumer genetic testing, 23 and me and others, what do you anticipate that, I guess, be coming in the coming years in terms of providers getting questions about genetic testing that they're getting at home? So this is actually already really prevalent. I don't know if anyone has come up to any of you guys and showed you their 23 and me report. This happens to me constantly. Because 23 and me, if you're not familiar with them, they are direct-to-consumer genetic testing program. It's not clinical genetic testing. They look at SNPs or SNPs, common changes in the general population that can tweak your risk for certain conditions. But you can get your raw data from 23 and me, which is really kind of a clincher. So a lot of folks who are either savvy or not tend to run their raw data through third-party analyzers like Prometheus, if you've heard of that one, and then come with like a pathogenic variant or a likely pathogenic variant that they found in a hereditary cancer predisposition gene. This happens. We do clinical confirmation of those, and I'd say most of the time they turn out to not be real, which is interesting. We always do clinical confirmation. If you do research testing for genetic testing, you always have to clinically confirm everything. But it's becoming a lot more prevalent. A lot of our folks, where I run into it the most, is in neuro. Our Parkinson's patients tend to do 23 and me, because that's one of the conditions that they say they can tell you what your chance of developing is. They do it, and I think our patients are disappointed with it, to be honest. When they get that report back, I don't think anyone really has been extremely pleased with the content they get back from them. So right now, direct-to-consumer testing is a lot different than clinical testing. It's actually kind of changing. So our clinical testing labs are rolling out some direct-to-consumer programs that are a little bit concerning. But these labs do have genetic counselors on staff that they say is a requirement before they get a test, is that they actually do a remote session with a genetic counselor. So we'll see. You're going to look to get eye color right now, but that's the only eye-related standard. Yes, correct. So they're not doing AMD or anything, which is good. Yeah, Paul. So I just want to comment. Emily is a great resource. There's a lot more beyond retina that should be tested here, so keep her busy. And then can you talk a little just briefly about AMD testing and what we tell patients now? Yeah, so we still get questions about this, of course. And we just kind of, with any multifactorial condition, I do a lot of these over in neuro2. There's ways to explain multifactorial conditions that make sense to patients, where you can kind of let them come to their own realization that it's not indicated to do a clinical test for them. There are a couple of folks out there that are doing like a proprietary algorithm for AMD that we just don't really know exactly what they're doing. They're doing some genotyping and creating like an age-based risk for AMD. So we don't do that. But it's out there. But we always, you know, AAO says don't do it, so we don't do it. You mentioned insurance coverage of genetic testing. How about your counseling? Does that cover the annual insurance? Yeah, so I bill insurance. There is a code that we use for genetic counseling. For my retinotracker, we can't bill for those folks because we actually get paid from FFB for my services. So we don't bill for those. But for like a stickler syndrome or anything that's not covered under FFB, they go on my template and they get billed. It's like a therapy session, so it's like 20 bucks. Thank you, Emily. Yeah, thanks.