015 A Roundtable on Genetic Counseling
In this episode, we are joined by three expert genetic counselors—Rebecca Clark, Emily Place, and Taylor Sabato—to demystify the evolving field of ophthalmic genetics. While receiving a genetic vision loss diagnosis can feel isolating, these professionals serve as a compassionate "front door" to the low vision community, offering much more than just DNA analysis. We’ll explore how genetic testing can provide clarity on prognosis, inform family planning, and open doors to cutting-edge clinical trials. Join us as we discuss how a genetic diagnosis can shift the journey from a place of uncertainty to one of empowerment.
The Compassionate Front Door: Reflections on Genetic Counseling
As a psychotherapist who has lived with Stargardt’s disease since the 1980s, I often reflect on the moment of diagnosis. In those days, the clinical diagnosis was a lonely affair; the doctor provided the facts, and then you were essentially sent out the door to navigate a new, blurry world on your own. This is why my recent conversation with genetic counselors Rebecca Clark, Emily Place, and Taylor Sabato was so profound for me. It revealed a beautiful evolution in how we care for the person, not just the eyes.
During our interview, I found myself struck by the description of a genetic counselor as a "front door" to the low vision community. While their title suggests a focus on the microscopic—the spelling of our genes—their actual work is deeply macroscopic. They are the professionals who walk into the room after the physician has left, offering the "gift of time" to help a patient process the weight of what they’ve just heard.
As a therapist, I know that support is the primary factor that prevents a difficult experience from becoming a lasting trauma. Hearing these three experts discuss their role in "actively preventing trauma" by providing a compassionate face and a listening ear was incredibly heartening. They aren’t just handing out test results; they are helping people "unpack" and "debrief" in a way that many physicians simply don’t have the capacity for.
We also delved into the technicalities that often cause anxiety: heritability and the uncertainty of "gray areas". We discussed the difference between genotype—the specific genetic variants—and phenotype, which is how those variants actually manifest in a person’s life. This distinction is vital for our community to understand. Just because we carry a certain gene does not mean our journey will be identical to someone else’s. There is a significant amount of ambiguity in genetics, but as Rebecca pointed out, this is where the "art" of interpretation comes in.
For many of my clients, the fear of passing a condition on to their children is a heavy burden. The counselors explained how they navigate these sensitive conversations, helping families look at statistics not as a source of dread, but as a tool for making informed, empowered decisions. Moving from a state of disempowerment—where things are "happening" to you—to a state of empowerment, where you are choosing to participate in research or clinical trials, is a cornerstone of living well with vision loss.
I was particularly moved by the emotional honesty our guests shared. They admitted that giving bad news is hard and that they, too, mourn for their patients. Yet, they also get to witness the incredible "hopeful trajectory" of their patients—seeing people grow, find joy, and reclaim their independence a year or two after that initial, devastating visit.
If you are currently in a season of "initial shock," please know that you are not alone. There is a network of professionals dedicated to helping you navigate this. Whether it is through a genetic counselor or a mental health professional, seeking support is the first step toward healing emotionally, even when our eyes cannot heal physically. My takeaway from this session is simple yet powerful: we are more than our DNA, and our community is here to hold the door open for you.
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Navigating a new diagnosis of vision loss is often a traumatic and isolating experience. In this episode, host Matthew Reeves, a legally blind psychotherapist, sits down with three specializing genetic counselors—Rebecca Clark, Emily Place, and Taylor Sabato—to discuss their vital role in the diagnostic and adjustment process. The group explores the "human side" of genetics, explaining how these professionals provide the gift of time and empathy to patients who have just received life-altering news.
Listeners will gain a deeper understanding of the difference between a clinical and genetic diagnosis, and why identifying a specific genetic variant can offer a clearer roadmap for the future. The guests break down the complexities of heritability, the "art" of interpreting DNA research, and the psychological impact of sharing genetic risks with family members. Whether you are curious about your own genotype or looking for ways to feel less alone in your journey, this episode offers a blend of technical expertise and deep compassion.
Beyond the lab results, this discussion emphasizes the importance of the "care team" and the resources available to those with inherited retinal dystrophies. From the nuances of participating in clinical trials to the emotional resilience required to face uncertainty, our guests provide a hopeful perspective on living well with low vision. This episode is a must-listen for anyone seeking to move from a place of disempowerment to a position of informed advocacy for their own health and well-being.
Topics Covered: Ophthalmic genetic counseling, inherited retinal dystrophies, genetic testing yield, clinical vs. genetic diagnosis, emotional adjustment to vision loss, family planning and heritability, clinical trial screening, genotype vs. phenotype, National Society of Genetic Counselors, patient autonomy and privacy.
National Society of Genetic Counselors
ABOUT THE PODCAST
inSight Out is your podcast home for living well with vision loss. Host Matthew Reeves (LPC CRC NCC) is a legally-blind psychotherapist and rehabilitation counselor specializing in helping people thrive while living with disability. Matthew is licensed in Georgia and is a nationally certified rehabilitation counselor.
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©Integral Mental Health Services, LLC
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The following transcript is AI generated and likely contains errors.
0:00:00]
COLD OPEN
Alex: This is placeholder for generic voiceover.
INTRO
Matthew Reeves: You're listening to Insight Out a podcast about living well with low vision. Maybe you're feeling confused, scared, isolated, or disheartened about a recent vision loss diagnosis, or maybe you've been managing your vision loss for a while and now you want to hear from others about how to continue growing and thriving. Insight Out is your supportive space to find healthy and impactful tools to build and maintain a truly rich and gratifying life with low or no vision.
I'm Matthew Reeves. I'm a legally blind psychotherapist and rehabilitation counselor. I specialize in helping people adjust to disability through my practice, integral Mental Health Services in Atlanta, Georgia. I'm really glad you're listening.
[00:01:00] Please subscribe so you don't miss an episode, and let others in the low vision community know about the podcast so the word can spread to those who might find it helpful. And now on with today's discussion.
TOPIC INTRO
Alex: this is placeholder for generic voiceover.
INTERVIEW
Alex: This is placeholder for generic voiceover.
Matthew Reeves: Into insight out. Uh, this is a real treat because we have not one, not two, but three genetic counselors to talk about this really interesting, uh, area healthcare. it's one that I have very little experience with. I had one genetic counseling session in my life, uh, and it was a long time ago and I don't really, really remember it very well. Um, but it's becoming more and more relevant. Um, as genetics becomes a more sophisticated and advanced science. So I'm really, uh, thrilled to have the three of you here to talk about it today. And before we start, I should mention for the audience, like we're well aware that not all vision [00:02:00] impairments are genetic. Uh, so this isn't, uh, specifically relevant for everybody who might have a vision impairment, but it, it is very prevalent for, for, um. Vision impairments to be genetic conditions. I have no idea what the statistics are. Maybe that's a good first question. Can anybody speak to that? How many vision, what percentage of vision impairments might be, uh, caused by genetics?
I have no idea.
Taylor Sabato: I'm wondering if any of my, uh, colleagues here have a better answer for than me, but I, that's a really good question and I think a complex question. Um, what I typically talk about with my patients is when we do know that somebody's been diagnosed with some sort of inherited retinal dystrophy that can be made, a diagnosis made by an ophthalmologist, we say that genetic testing right now has about a 56 to 76%.
Yield or chance that we'll find something in the DNA that explains their inherited retinal [00:03:00] dystrophy. Um, so I know that's not a big population based, uh, answer of how much, you know, uh, vision loss might be, uh, attributable to genetics. But kind of one of our statistics that I like to talk about with my patients,
Matthew Reeves: Okay, so 50 to six you said 50 to 60%.
Taylor Sabato: 56 to 76, so right in the middle there. Yeah, 66% of approximately, so
Matthew Reeves: And,
Taylor Sabato: there.
Matthew Reeves: does that mean that, uh, for the remainder. Uh, I'm trying to understand the statistic is, does that mean that the remainder are still diagnosed with an inherited condition, we just can't identify the gene. Is that right?
Taylor Sabato: That's typically what we talk about in conjunction or, or with our ophthalmologists. Um, so if the ophthalmologist still says, yes, this is an inherited retinal dystrophy, then we can talk to our patients about. Genetic testing isn't perfect yet. We're still discovering more genes and more, you know, variation within our DNA that we just don't understand yet.
That might be [00:04:00] explanatory in the future that we just don't have the answers yet.
Matthew Reeves: Okay. Got it. Well, that was a, I I didn't mean to throw a quiz at you right at the beginning. so thanks for putting up with that. Why don't we, why don't we start or move into a more fundamental question that I think a lot of people may be asking, what is the role of a genetic counselor? What do the three of you do for a living? What? Yeah. Help me understand how you interface with patients.
Rebecca Clark, MS, CGC (she/her): One of the ways that I like to explain it to patients is that my role is to help them. Fully understand what the or the doctor has already told them. Often there's some limitations in the time that they have to explain, uh, the diagnosis to the patient. And, um, so hopefully breaking that down to an understandable level. And then with that, explaining how genetics has played a role in that being developed. I explained the benefits and limitations of [00:05:00] genetic testing. Um. I see in some ways myself as a con living, walking, consent form to make sure that they understand this is not going to often be a perfect solution or a cure.
There can be ambiguities in this type of testing and it might come back negative even if we suspect this is genetic, just like Taylor is describing. Um. I gather family history information to give us context of if there's other genes we should be looking at more closely. Uh, and then when all of that's done and we send the test off and results come back, explaining those results, helping them get connected with the treatments and or research opportunities that are available, helping them communicate with their family members about what those results mean for family members as well.
Matthew Reeves: Okay, so you're, you're part of the genetic aspect of the diagnostic process and, and, and understanding that diagnosis. And when I was diagnosed with my, uh, [00:06:00] condition, which is Stargardt's, it was in the eighties, so there was no genetic testing, and it was described to me that we've moved from. That what I had, what I received as a kid, which was, I think described as a, a clinical diagnosis based purely as you're nodding your heads for those people who can't do over listening on audio. Um, so a clinical diagnosis is based on symptoms, uh, in, in the office and tests, but the genetic is more confirmatory, um, based on the genome and, and much and, and sort of lab tests as opposed to a clinical test. What is the. or the advantage for a patient to receive a a genetic diagnosis over a clinical diagnosis?
Taylor Sabato: I think it's sometimes for, for some individuals can add some specificity to the diagnosis. So when we know what gene, when we know what specific change within a gene, sometimes we can look in the literature and get some more information [00:07:00] on. Prognosis. Um, do we, you know, have a little bit more information from other people that have gone through similar things about what we might expect in the future.
Um, it can also give us a little bit more information on if there's other, you know, health symptoms outside of the eyes that might, we might wanna screen for or manage. So kind of giving a, a more holistic approach to some of these conditions that we work with,
Matthew Reeves: Okay, so more specificity, less ambiguity,
Taylor Sabato: right.
Matthew Reeves: and, and it might inform prognosis and I guess in some cases even treatment. Um. Okay. That's great. uh, what else should I know about your role or what do we know? What have I, I imagine it's because it has the word counselor in it. I'm intrigued as a therapist because that's, that's the word we use too. Uh, and it, this is not, as I take it, uh, from, from reading about this, this isn't just hard science, what you're doing. This is, uh, this has a, a human aspect as well. Can you talk about that? [00:08:00] Emily?
Emily Place: Yeah. Um, so I guess I, I see myself or our role as part of the care team, kind of as Rebecca and Taylor mentioned, right? We're really helping break down the scientific information or clinical diagnosis for patients, and then walking them through what that diagnosis means, right? What. Potential implications could be for passing this on. Um, but working towards getting a genetic diagnosis could help provide that more specific information. That's a lot of very technical, right? But there's emotion behind each one of those conversations. So it's also, I, and I think about that really's a conversation with patients of understanding where they're at in their diagnostic journey.
Um, how can we best support them, um, in understanding, in their understanding of their diagnosis and what. Is the most helpful next step, and maybe that is genetics and maybe it's not right. Maybe there's some other way for us to be helpful, and [00:09:00] at some point we'll come back to genetic or genetic testing.
Matthew Reeves: Okay, so there, what, what are the non-genetic topics that you find yourself spending time on? What, what is, um, what are common. that you notice that kind of intersect with your work outside of the the technical.
Rebecca Clark, MS, CGC (she/her): One of in my clinic, the workflow that patients follow is that will first have a family history call with myself where we gather family history information. And then, uh, they have all their testing and diagnostic imaging, and then they see the provider and right after they see the provider, I come into the room and have my genetic counseling visit with them. And so I see the non-technical aspects coming into that last portion the most, where I get to have a moment, even before I talk about genetics, to check in and say, Hey, you just had. [00:10:00] A discussion about some pretty heavy topics. are your takeaways from that? Let's, uh, debrief that together and, and kind of chew on it a little bit. Um, giving patients time to process, uh, before they just get dumped out into the world and have to sit there with those motions by themselves, I find is really beneficial. Um. And then I also as a liaison between the physician that gave them that diagnosis and other resources like social work or rehabilitation or low vision clinics and resources. And of the time these patients are hearing this information for the first time and they are very new to knowing about what resources exist. Um, and so. Often that day is not the time to just dump them with everything that exists out there, but letting them know that uh, they have these team members behind them.
[00:11:00] And as we go throughout this process. We're gonna be reaching out to them. We're a continual resource. Uh, and knowing what to expect down the road as far as opportunities to act, even if there's not a treatment available. Um, what are some ways that they can get involved with peer support groups or connect with other patients that have similar diagnoses? Connect with someone that's, uh, had this diagnosis for a long time and could explain their journey throughout that process. Um, or, you know, knowing about. What's the process to get a guide dog? Uh, those questions are often the topics I'm talking about separate from genetics.
Matthew Reeves: It really sounds like what you're describing is you're almost a front door to the community of low vision. Whereas the physician might be the, the door itself, right? Like, like a little, a little before you're into, into the community at all. The physician is saying, well, this is just, here's the fact, and here now, now you're, you're on [00:12:00] your way and they don't have, I guess, the time and that to, to do what you do. and that's really been a theme. I, I, I'd love to dive into a little bit because I've noticed with my clients and, and hearing from the community outside of my clients. One of the things that I'd love to see change in this world of low vision is the number of people who receive a diagnosis and then feel like they are all alone. Um, and that's so traumatic. Um, I, I, I was fortunate to be young with a very supportive family. but that's not the case for everyone. it sounds like, uh, your role as genetic counselor. Is a step, a big step in the right direction to have a very friendly, very compassionate face come in the room immediately and say, now let's unpack.
Let's process. Let's make sure you know you're not alone. Is that when you got into genetic counseling, did you realize that that was going to be such an important aspect of what [00:13:00] you were doing?
Taylor Sabato: I'll say I, I, I love that analogy that you brought up of the. Kind of the doorway to some of the resources. I, I, I really like that. Um, for my, myself, a personal experience. I, I feel like I was, um, aware that genetic counselors got that extra, got that extra gift of time with patients, and part of the reason that.
I took, uh, interest in this particular career. Um, you know, we are a, across specialties, granted a lot of time. Um, sometimes 30 minutes is, you know, sometimes 20, but oftentimes 60 minutes with our patients. And so we do really get that opportunity to spend time on those, uh, personal needs and personal, uh, subjects with patients, which is part of the reason that personally drew me to this career.
Matthew Reeves: What about the, uh, the other two of you? What, what drew you to it?[00:14:00]
Emily Place: Um, I, I always had an interest in genetics and I, um, kind of found this, um, found the career during my, my undergrad and what really drew me to it was it that it, um, brought together, This technical aspect of understanding genetics or science and people, right? That being able to have conversations and discussions with, with patients and, um, provide them that support and, um, and while you're taught that and get that experience, I think within school, I think once you're getting out there and practicing, you get those real world experiences that you really, it start to understand the counseling part of genetic counseling. at least that's had been my, was my experience.
Rebecca Clark, MS, CGC (she/her): And what I'll add to that is specifically for ophthalmology, I was really drawn by the fact that we have a lot of research going on. Many patients are [00:15:00] coming to us having read about studies, having read about clinical trials, and they are hopeful and wanting to understand and. It was a really wonderful opportunity for me to bring what I have in my science background and ability to understand the research and a chance to meet with that person in that moment.
That's really tough. And provide them actual context and information that can help in that moment. Um, it felt like this perfect. Joining of in the right place at the right time with the right information, um, that genetic counseling facilitated very nicely.
Matthew Reeves: That's lovely. I'm, I'm curious, are, is there anybody who, and and I don't, I don't wanna put you on the spot and I'm certainly not trying to disparage any, anybody. Out there, but it seems like you're only gonna have the opportunity to walk in the room for somebody with a genetic diagnosis. Uh, is there anybody performing this role for folks that have [00:16:00] received a traumatic brain injury or, you know, some, some other. that's non-genetic. Uh, 'cause that, that I asked the question 'cause just 'cause it breaks my heart when I, when I talk to people and they do feel so alone. And that's what, that's really honestly the, probably the biggest reason why I started this podcast was to, to try and alleviate that sense of, isolation. So, uh, I Do you have any thoughts on that? Like, is, is, is your role limited to just people with genetic diagnoses? Are there other people doing it for, for other patients?
Emily Place: Um, I am aware, so this is specific to Mass Eye Ear, where I'm located, um, that we do have access to and, and colleagues within, um, psychology and psychiatry department who are interested in working in supporting patients who've experienced vision loss.
Matthew Reeves: Yeah.
Emily Place: Um, and so they're amazing partners, um, in [00:17:00] helping from. At least from the, from the genetics clinic, right. Be able to help support patients who need some additional su supports beyond what myself and my colleagues are able to provide. Um, but that, that is absolutely unique, I think, to our institution. I don't know how, um, that translates into other, other spaces, so I know we're, I think we're very privileged to be able to have that and offer that to patients.
Matthew Reeves: Well, maybe there was, maybe we can shine a light. On the need, uh, for, for physicians. And it's not just vision loss, it's any life-changing diagnosis. Um, extremely difficult for people to hear. Um, so yeah, I, I hope, I hope we can as a, as a culture get better at supporting people in those initial moments of shock. Uh, Taylor, you mentioned, I think it was Taylor that you mentioned, um. Your role in clinical trials, and that kind of prompted a question. So far, we've talked [00:18:00] about your role, uh, in that, in that initial moment of diagnosis on day one. Um, what is the role of genetic counselors going forward? Uh, do you have, do you maintain a relationship with patients over time?
Taylor Sabato: Really, really great question. Um, and I think this might be location specific and kind of what support team members that all of us as genetic counselors have. So I, I can speak to my team. Um, as far as clinical trials, I actually have a clinical care coordinator that I work really closely where. With that helps me get patients enrolled in clinical trials if they're interested.
Um, but kind of to answer the second part of your question of what does care look like for patients ongoing, I'm really lucky in my role that I get to go into clinic with my, um, ophthalmologist and see my patients again and again and again after for their follow-up visits. So, um. There's a lot of [00:19:00] opportunity to hear something once at our initial, you know, result disclosure of their genetic tests, and then maybe in six months when they come for their.
Check up with the physician, um, hear a little bit more, or maybe their family planning, you know, um, thoughts have changed and so they get to hear more information about that where they didn't wanna hear it before. Um, so again, I think that's specific to different specialties in genetic counseling. Um, but I think most of us in ophthalmology are pretty, um, plugged in with our patients in that aspect of kind of this continued care that we get to provide.
Matthew Reeves: That's, that's fantastic. I love seeing and hearing about the relationship that gets to grow over time and, and appreciating that the, the initial moment is not always the right moment for every conversation. And sometimes it's the same conversation might need to happen multiple times, uh,
Taylor Sabato: Hmm.
Matthew Reeves: in shock. And, and just distraught. That's, that's a tough place to be, to receive a bunch of, be [00:20:00] inundated with a bunch of technical information. Uh, I think it's most important in most cases, uh, just to feel like you're not alone. So thanks for being the face in the room that that serves that role. Uh, first and foremost, um, what is your role in terms of helping people find clinical trials?
Is that something you do?
Taylor Sabato: Yeah, I, oh, Emily, go ahead.
Emily Place: Oh no, that's, um, I, uh, so we, again, we probably all three have a different answer to that, but maybe in general, um, definitely for us in our roles, um, is working with patients to help identify, um, clinical trials or. Supporting our clinical trial team and coordinator, um, within our institution to, um, help recruit patients as well. So,
Matthew Reeves: Does that include? Um, you know, I, I say this as I'm, I'm reaching out to a clinical trial right now for myself. Um, does, does your role include [00:21:00] understanding and making informed decisions about the costs and the potential costs and benefits of clinical trials? Uh, and, and helping make what, what can be a pretty
Emily Place: I.
Matthew Reeves: decision?
Emily Place: So I can say. I don't, but I, I actually say that exactly to patients when we think about clinical trials, right? They're really human experiments. And so this cost benefit analysis is going to be different for every single person, but something to have to, they're gonna have to consider. Um, so kind of, I think when I introduce the topic of clinical trials or the potential for clinical trials, it's starting, those conversations of this may be available.
These are what clinical trials are in general, introducing the topic. Um. Hopefully laying the groundwork for more specific conversations with a coordinator or physician.
Matthew Reeves: Got it.
Rebecca Clark, MS, CGC (she/her): in our clinic, I, I would say we have a similar role that when we're talking with the patients, we're giving generally, um, [00:22:00] much more. Uh, basic information of just co concepts that a clinical trial is, what are some variables to think about when you're considering. And often I give patients a heads up of, I have a result, Hey, this is where clinical trials are at for that specific gene, or these are the areas that are working on research. Um, but. On the backside when a clinical trial is being run at our site, um, I usually am in the, the first phase of screening patients. So we have a database where we have all of the genetic test results, and if a genetic, uh, or a pharmaceutical company comes and says, Hey, we wanna do a trial related to a BCA four, and we need all the patients that have variants within this specific region, that poll and look through. Make sure they have all the genetic testing on file that's necessary. Make sure we have, um, sometimes family member testings required, see if we have everything [00:23:00] required there. Um, and then I give that list to our clinical trial coordinators who screen through those patients for the rest of the, uh, qualifying. Uh, requirements, things like visual acuity, windows, and, um, visual field requirements. If they have any past surgeries or medications, that list can be pretty long. So, um, they do that and we just had a recent training with our clinical trial coordinator team about how to have these conversations of while they're, um, either consenting or while they are in the process of the clinical trial, how to have those hard conversations about. You know, what might this look like? If it doesn't go well, what might it look like if it does go well? What support systems do you have? And really engaging in that in a psychosocial manner to make sure the patient's making an informed decision. Okay.
Matthew Reeves: It's great to hear, um, what is, you know, you're, you're talking about [00:24:00] making it informed, you know, well, let me back up. started with something happening to a person, right? That they had no control over the diagnosis. Now we're talking about a dis making a decision, something they do have control over. Um, and I noticed just how. How neat it is to, to be able to move from one to the other. Um, 'cause that's kind of one of the things I like to do with my clients is, is move from a place of, of disempowerment to empowerment. Um, also talked about support systems, which I think is also super important. of support systems, what is your role with family and, and talking with family about, about diagnoses and, and living with conditions? Throw that out for anybody.
Rebecca Clark, MS, CGC (she/her): I can, share. I feel like I've been talking a lot, but I'm happy to, uh, speak up. Uh, the interaction that I [00:25:00] have with families is actually often for someone that's. Interested in clinical trials, um, and we need family member testing to confirm the arrangement of their variants. Uh, and so will have separate phone calls with either parents or adult children, um, and trying to explain the background behind this family members or this, uh, our patient's genetic condition and, uh, why we would want family member testing. Um, and. That's the primary areas where I work with them. Um, the other times that I work with family members are if we get a genetic test result that's inconclusive or uncertain, but we are suspicious that it might to the condition, uh, family member testing can be beneficial and, uh, determining that and, and reanalyzing that specific variant. Um, and so. Spend a lot of time on the phone with family members to try and explain, [00:26:00] uh, how that might impact the patient's, uh, understanding of their condition, how that might impact potential enrollment for clinical trials. There are rare occasions also where we end up meeting with family members who say, Hey, my, my cousin had this tested and I have symptoms.
I want that too. Um, usually I recommend those go to a local ophthalmologist themselves so that they can get their own, uh, personal information, uh, for their specific eyes and, um, symptoms. But, uh, at least I do give them some basic information about the genetic test itself.
Matthew Reeves: Right. But in that case, they, they would need to become their own patient at that point. Yeah.
Taylor Sabato: And echoing everything, uh, Rebecca said. And I, I, I think that family is such an integral thing to a lot of what we do. Just having, um, you know, we're performing testing for these hereditary conditions that, you know, have potential risks for family members. And so [00:27:00] I would say almost all conversations that we have with patients, um, regarding testing, uh, results as well as.
Pre-test counseling, talking to them about what testing might mean for family members is actually a, a big part of a lot of our conversations. You know, a lot of people come to us saying, what are the chances that I pass this on to my kid? That's my main reason that I want to do testing. Um, so a lot, a lot of conversations can sometimes revolve around those types of, um, that type of information that we might gather.
Matthew Reeves: That's definitely one of the areas I wanted to talk about today. So since you, since you opened the door to it, let's, let's dive into that a little bit. What, what is your role and what do you try to convey patients that are concerned about passing on diagnosis to either the kids they've already got that maybe they haven't tested or there's no symptoms or, uh, kids that they may decide to have in the future?[00:28:00]
Taylor Sabato: I'll say that's a really, really complex question and I think it's, it's, it's very patient dependent. It's dependent on the person in front of us on, on kind of how that conversation goes and what information that they're really after. Um, to kind of talk to, you said the front part of your question was, um, related to like how patients might respond to that information.
Is that what you were asking?
Matthew Reeves: That's a great question. Let's go
Taylor Sabato: Okay. Yeah. Um, and I would again say that's very, very, very patient dependent. Um, you know. Some potential themes that I've, I've seen in my clinic that I've talked about with patients is, hey, if we do get test results back that are informative for your diagnosis, you know, we can have a more solid conversation about what risks might be for kids, um, or other family members.
And sometimes that information or that knowledge can sometimes be comforting for patients, or sometimes it could be the opposite side of the [00:29:00] spectrum where it creates more anxiety 'cause it's a higher risk than they anticipated. Um, so kind of talking with patients about, you know, is this. Dominant 50% risk.
Does that feel high to you? Does it feel low to you? And kind of getting a good grasp on where they're feeling with their potential risks for family members is some of the conversations that we'll, we'll potentially have even before testing when we're deciding if testing is a right step for those patients.
Matthew Reeves: It occurs to me that, you all are at, at a. In a room where you're having conversations where the reality that statistics devolve into meaninglessness down to when you get to a sample of one, Like they're only useful and at the, at larger scales, and you're dealing at the literal one human level. That. And I, I think in our culture, in our society, we, we don't understand that very well. I think that's why we, we don't have a lot of data [00:30:00] literacy in, in that sense. Um, and that throws us off a lot. It's can be very when we, when we think about probabilities as something that. Is that you can sink your teeth into when in fact it's not. Um, is that something you talk about and, and help people work their way through to say that your experience is your experience regardless of what the, the statistics might say? Emily, you're
Emily Place: I think it's, yeah, I think it's very much validating where the person's at, right? So there's the hard, the fact, right? It's in four or one in two, but how person A understands and. Feels and perceives one in 50 or one in two, or, you know, 50% is very different from the next person that walks in the door.
And so, um, I, it's, it's, I guess for me, really having that con, like, the number, right? How do you [00:31:00] feel about that? What does this mean to you? And kind of talking about it in many different ways, like,
Matthew Reeves: Hmm.
Emily Place: um, in terms of, um, you know, is it. One and two or 50%. Those may elicit two very different responses. Um, so, um, kind of understand like, can we pro, you know, provide information in multiple different ways.
That's helpful to kind of get people to, um, kind of understand where they're at.
Matthew Reeves: Yeah, I, I like to remind myself, I, I love the reframing, 'cause reframing is a big part of my job and, and when I think if something has a 1% chance of happening, I think most people would think that that's minuscule. I don't have to worry about that. That's not a big deal. But if I tell you that. If you have a 1% chance of something happening every day this year, it's gonna happen more than three times. Like, like that's every couple of months. Every few months, uh, that starts to feel very, very different. But it's the exact same statistic. Um, so I love how you're, how you're [00:32:00] trying to help people see it from multiple angles. does this, does this, uh, does this ever show up with having, um, partners tested in order to determine. likelihood of heritability of a condition.
Rebecca Clark, MS, CGC (she/her): Yes, it,
Emily Place: Yes.
Rebecca Clark, MS, CGC (she/her): does. We get those questions a lot and I think each clinic handles it slightly different. Whether they would recommend going to prenatal genetic counselors for that or whether we can do the testing ourselves, um, at an ophthalmology genetic counseling clinic. But, um. One thing I was gonna bring up with our previous conversation, and it also applies here, is that a challenge with ophthalmology genetics is that many of these genes present. Uh, uniquely and differently in each patient. And so with these statistics, we have to continue adding some ambi, excuse me, some ambiguity in with that. Um, and [00:33:00] for example, if I'm counseling a family about a, b, c, a four, which is associated with Stargardt's disease like you've experienced, Matthew, I. Uh, we can look at the specific variance in that gene and give some guidance as to what a patient might experience, but it's really challenging to tell to parents and say, Hey, yes, you may be experiencing this, but we actually can't guarantee or really know what any offspring with these same genetic variants might experience. Um, and so trying to counsel 'em through that ambiguity. Takes a lot of time and uh, I think attention to the gray area.
Matthew Reeves: Yeah. Is I, I wanna a couple technical terms and have you all define it. 'cause I think what you're talking about here, and this is not my area of expertise, is the difference between genotype and phenotype. Am I getting that right? And, and could somebody unpack that a little more so people can understand it?[00:34:00]
Taylor Sabato: I, I would typically describe genotype as somebody's, um, you know, uh. Present genetic variants that we can identify on testing and, and phenotype would really be those clinical features that the ophthalmologists that we work with are identifying on exam. Um, so sometimes a genotype can present with different phenotypes or different clinical features, and so that's why we really.
Go through the literature and see what cases have been published before to kind of get that spectrum of where we think patients could potentially fall within. Whether that's no symptoms at all, even if they have the same genotype, um, or if there's maybe less a smaller focus spectrum for specific genotypes.
And we think, Hey, most people experience this. So, um, it, it does get really complex echoing Rebecca. Um, trying to kind of identify. What a [00:35:00] patient or a family might experience. And it really goes back to making sure we're continuing research efforts, um, and, and things like that to, to better have information for our patients, uh, in the future.
Matthew Reeves: So that's why it would be, it's complex enough to make a decision about, uh, passing a, a condition, potentially passing a condition on to a child. If it was just that, but because I think, if I'm hearing you right, be because the, any given genotype can express itself in different ways in the, in the phenotype. It makes it that much more complicated. Yes, you may pass along the condition, but it may look completely different than what the parent is dealing with. so it makes, it is a huge amount of uncertainty at that point. And I guess, and the amount of uncertainty, I would assume, would depend somewhat on the diagnosis.
So I would imagine certain conditions would have possibilities and other conditions would be more narrow. I think that's what you were alluding to, if I was understanding [00:36:00] it right.
Taylor Sabato: Absolutely. Yes.
Matthew Reeves: Okay.
Rebecca Clark, MS, CGC (she/her): You understood that well, well done. Those are complex
Taylor Sabato: Yeah.
Rebecca Clark, MS, CGC (she/her): You picked it up fast.
Matthew Reeves: Um, that makes me think that you all are not just doing, uh, individual counseling. You're doing couples counseling and family counseling in a lot of cases. That's, that's a lot. Uh, how is, how do you, how do you receive this work yourself? I mean, you're in the room with people on one of the worst days of their life, and that happens all the time. Uh, how did, how does, how was that for you?
Taylor Sabato: We're all kind of, oh, sorry. Go ahead, Emily. I think.
Emily Place: Um, you know, some days are [00:37:00] harder than others. Giving bad news can be hard, um, even for your providers. Um, but I, I really see myself there as being the person to help and provide that information in a way that, um, is not. Adding to any trauma, like we're here to help support. Right. So, um, and, and I think it's a lot of the times I do acknowledge it to my patients, I was like, this is really hard. I, and um, and I think that kind of, I find it can be helpful sometimes to acknowledge that.
Rebecca Clark, MS, CGC (she/her): When I meet with patients that are usually in their first experience with this diagnosis, are obviously the most heavy conversations and. Personally, I spend a lot of time on the backend beating myself [00:38:00] up or saying, ah, I should have done this, to better support them or help them through that situation.
You know, there's always kind of a consistent, uh, after talk and like, and also just kind of mourning for them in their situation. Um, but. Overarching, that's actually quite small compared to the other emotions that I experience in this position. Um, because of the longevity that we get to see patients through year to year, and we get to interact with their families. One of the wonderful things about my job is seeing that patient that. Such a hard situation that they were in the first time we met a year later and see how they have grown emotionally and set themselves up for success and see how they found joy and independence in certain areas of their life despite these ch. Vision limitations and seeing, you know, patients all along that spectrum and seeing the progression over time is really hopeful for me. And I think to [00:39:00] second what Emily was saying, that's what I try and reiterate to patients in that first session. Whether I do that perfectly or not debatable, but uh, that hopeful trajectory is something I take away from this job.
Matthew Reeves: I'm really grateful for both of your answers. Uh, one of them really makes clear that the entire care team is human too. Uh, and that I think is important for all of us to bear in mind as we go through difficult things. Um. And then also really love the message of hope, uh, that, that you offered, that your worst day will be just that, probably your worst day.
Not to say there won't be bad days and hard days. I, I think I'm, I'm a big believer in emotional honesty. Uh, but I'm also a big believer that we get better, we have the potential to get better, uh, and heal emotionally, uh, even if our eyes can't. Um, and [00:40:00] to your point, Emily, about not adding to trauma. I have, I, I've come to believe and understand in the job I'm in, that having support when you're under threat and a vision diagnosis, like, like we're talking about, is definitely a threat. Um, but having support is the thing that prevents trauma. Uh, I don't think, it's not just, I don't think, uh, it's. A matter of not adding to drama. I think you're actively, I think if, if, if your job is done right, and it seems like it is for the, in your three cases, if your job is done right, you're actively preventing drama. Uh, which is I, I. I am so grateful for the work you're doing, and I wish there were so many more of you. Uh, for, for people who are receiving these diagnoses and don't have that support and feel so isolated. I just, uh, it that, that is where the trauma gets born. Um, I. Before we, [00:41:00] before we wrap up, I want to ask, what else you wish people knew about what you do? What, what do you want this audience to know about genetic counseling? Maybe perhaps any misconceptions that you hear a lot that you'd like to, uh, address, uh, myths you'd like to dispel. Uh, really anything you wanna, you wanna share with an audience.
Rebecca Clark, MS, CGC (she/her): One of the most common misconceptions I run into with patients is they see genetic testing as a black or white, yes or no. And I, I think clarifying and helping patients understand that. Genetic testing is truly just looking at the spelling of their specific genes, and usually it's only a subset of your genes. And we are being very intentional about picking those specific genes to look at. reading through them, comparing it to a standard sequence of someone who [00:42:00] doesn't have those vision changes. as they're noting differences, they are basing their interpretation on research and sometimes. We don't have research based on that specific spelling change.
Sometimes the research we have is limited, and so it really is more of an art in interpreting and understanding this. And as we learn more, those genetic interpretations improve. And so I think my, you know, big message to individuals who are new to genetics or trying to understand is to keep that in mind that there's ambiguity here. We're, uh, relying on research and, and so with that in mind, there, there can be uncertainty.
Matthew Reeves: Is that, uh. Is that a reason you would encourage people to do the genetic testing, even if they don't have a specific reason that serves themselves? Like for instance, I, I know my genetic information is in my retina tracker, which is a program of the foundation Fighting [00:43:00] Blindness. Is, is compiling those large databases useful you all to be able to interpret the genetic results you get back for any one person?
Rebecca Clark, MS, CGC (she/her): That's a two inch sword. I mean, theoretically, yes, obviously more data the better, I, I would not, um, say that that value outweighs someone's, uh. Desire to, for privacy or, desire to, everyone can have their own reasons to pursue or not to pursue genetic testing. And I don't think those need to, uh, strongly swayed just by saying, oh, we have to build our research database. Uh, that it should all be part of the discussion.
Matthew Reeves: I appreciate that, uh, focus on autonomy there. That's great. Uh, what about the, uh, the other two of you, what else would you like for the audience to know?
Taylor Sabato: Yeah. Uh, [00:44:00] first of all, I just wanna thank you for having us, um, as guests because I, I think my big takeaway is that we're here, genetic counselors are here. Um, and I think because of. Um, accessibility to genetic testing for ocular conditions has, um. Become, uh, increasingly uh, available across, um, you know, different institutions and different practices.
Genetic testing, uptake has increased and, you know, genetic counselors are there to help everybody kind of walk through those results and what they mean for you, what they mean for your family, um, and spend potentially some extra time with you discussing those types of things. So there's not a lot of, um, us out in.
In the genetic counseling space, I think we're only 1% of the full genetic counseling workforce that actually specializes in ophthalmic genetics or ocular genetics. Um, so we may be few and far between, but we're here. And, um, you know, if you have any, you know, uh, if you have any [00:45:00] contacts, be able to get in, reach with one of us.
Um, feel free to, to try and see what we, you can learn from us.
Matthew Reeves: Yeah, that you, you, you raise a good point. And boy, what a blessing it is to have three of you when there are so few of people, these people doing this work. so thank you for being here and thank you for your kind words. Um, for somebody who is getting diagnosed at a smaller clinic and they don't have genetic counseling available to them, what are their options for, for getting help from somebody who does what you do?
Taylor Sabato: So one of the resources that, um, sometimes I'll talk about with patients is we have a, a National Society, the National Society of Genetic Counselors, and they have a webpage that you can try to identify genetic counselors in your state and specifically, um. Pick the specialty you're interested in. So if that's ophthalmic genetics or ocular genetics, you should be able to select that on there too.
That's typically what I'll turn patients [00:46:00] to. I will say one of the limitations of just medical care, um, you know, in the United States is there's, you know, licensure that's needed in, in states to be able to perform. Um. Our specific duties or our practice. So there are, you know, limitations on state lines, on where we can provide patient care.
And of course that creates, you know, barriers for transportation and, and, and things like that. Um, but that's typically where I turn patients to for, for assistance if they're across state lines, um, or need some help, uh, finding maybe telehealth in, in their state.
Matthew Reeves: Okay. Thank you for that. I'll try and remember to put the, uh, link to that in the show notes if anybody wants to, to click on that. Uh, Emily, do you have any final thoughts?
Emily Place: I, um, I would definitely echo what Rebecca and Taylor said, and we, you know, as. Genetic counselors are here as, again, as part of the care team, right? In places where we [00:47:00] can be able to help interpret this complex genetic information for patients, um, and connect them with the resources and information that they're looking for, as Taylor mentioned, right?
We also turn to the National Society of Genetic Counselors, and refer patients there, or even the American College of Medical Genetics to try to get folks. At least, um, connected with a medical genetics clinic that could be closer if there's not a genetics clinic to at least be able to access genetic services. there is a network of us, so it's not just the three of us, right? There is, um, more and more genetic counselors focusing in ophthalmology. Um, um, and. Um, it's a fairly, um, good network in terms of, well, if you're, you know, someone calls from this region of the country, I'm like, I can't practice there, but I know so and so who does.
Um, and so it's, it's a nice way to be able to, to connect patients that way as well. I.[00:48:00]
Matthew Reeves: Uh, there, there's this image in my head right now of somebody listening to this who's, uh. a diagnosis and they don't know what their career is gonna be because it's, they may not be able to do what they've always been able to do. And I'm thinking maybe you could become a genetic counselor.
Rebecca Clark, MS, CGC (she/her): We
Matthew Reeves: 'cause Yeah, I know that's, that's.
Rebecca Clark, MS, CGC (she/her): us.
Matthew Reeves: Yeah, yeah. I come, or, or a mental health counselor too. Uh, that's something that doesn't require perfect vision, uh, and that you can make a big difference. So, um, there are careers available to people with vision loss, uh, that are incredibly meaningful. Uh, and, and I know that none of the three of you, as far as I'm aware, uh, have your own, uh, vision impairment. Uh, so that makes it to me extra special that you've. your, your life's work to a community that is oftentimes really feeling scared. Uh, and so thank you for being the frontline workers for, um, [00:49:00] and easing and educating and empowering, uh, folks who are having a really, really difficult season.
So thank you for the work you're doing. I really appreciate it. And thank you for being here today.
Rebecca Clark, MS, CGC (she/her): Thank you, Matthew. It's.
Matthew Reeves: All
Emily Place: Thank.
Rebecca Clark, MS, CGC (she/her): and so exciting to have this resource for patients. I'm already telling some patients about it. I'm really hopeful that, uh, this exists.
Matthew Reeves: Oh, great. Thanks for saying that. 2404
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Matthew Reeves: Thanks for joining us for this episode of Insight Out. You are the reason this podcast exists and we'd love to hear from you. You can leave us a voice message at speakpipe.com/insightoutpod. That's speakpipe.com/insightoutpod. There, you can share your thoughts about today's conversation, suggest a topic for a future episode, [00:50:00] or tell us about your experience living with vision loss. Again, that's speakpipe.com/insightoutpod.
Insight Out is produced by Integral Mental Health Services, my private practice that offers psychotherapy for adults in Georgia and disability adjustment and chronic illness counseling nationwide. Visit us at integralmhs.com and you can visit insightoutpod.com to catch up on all the episodes and to find links for subscribing in all the major podcast apps. A video version of this podcast is available on YouTube. Search for the channel, using the handle @inSightOutPod. You can also find us on social media using that same handle. I hope you'll join us for the next episode of inSight Out. Subscribe now in your favorite podcast app to stay connected. Thanks again for listening. [00:51:00]