Hello, how is it that we find ourselves surrounded by such complexity. Hello. Hello, you're listening to DNA today, a genetics podcast and radio show. I'm your host here Dean. I'm also a certified genetic counselor practicing in the prenatal space on this show. We explore genetics impact on our health through conversations with leaders in the field. This episode is a special installment. We are sharing a recording of the phenotype speaker series. There's a monthly webinar that's hosted by myself and sponsored by photo tips. During these live events. I interview leaders in the field of genetics and moderate questions live from the audience. The next live webinar I'll be hosting is on november 23rd at noon Eastern. I'm excited to explore the future of cancer genetics in this installment so you can check out all upcoming installments by heading over to fino tips dot com where you can also stream all the webinars from the last year and a half.
So I hope to see you at the live event again. That's november 23rd. Welcome everybody to the eighth installment of the fingertips speakers series. I'm your host here, Deneen we are talking today about the future of genetic counseling and I am joined by Amy Sturm and Eric Gordon. We are going to be diving into so many topics today just looking at the future of genetic counseling and going into different specialties in different areas that we are exploring. So are outlined today we're gonna be doing like a 40 minute interview and then we're going to be taking the last 15 minutes or so to answer your questions. So as we are talking about different topics as you're inspired as you want to participate in our conversation, please use the Q. And A box. Um so you'll see the chat box, the Q. And A. Uh any questions you have put in during our conversation, so have them pop up during it so that we can answer your questions at the end. This series is sponsored by fino tips.
They are the world's first genomic health record system and they have designed software and services that make genetic professionals workflow easy and intuitive. They have tools like pedigree builders, standard symptom capture and diagnostic insights. As many of us know, electronic health records are not built for genomics that many of us have struggled using things and having them adapt to our workflow in genetics. Sophina tips has filled in this gap by providing a complete suite for genetic medicine. So in light of the pandemic tips is sponsoring this speaker series so that we can come together throughout the world and talk about topics that are really important not only during the pandemic but in these health care fields in general. So as I mentioned, I'm your host Katie Janine for this webinar. I'm also the host of DNA today, a genetics podcast and we were very excited last year to win the people's choice podcast awards for the best 2020 science and medicine podcast. So if you enjoy genetic conversations that we have here on the final tip speaker series, definitely check out the show.
DNA. Today we've had over 145 episodes and Amy was on one of those episodes. I forget which one I want to say like 17 75 or something a couple of years ago. Um yeah, we talked about like cardiac genetic counseling which is so interesting. I learned so much in that episode. Um so definitely feel free to check those out. I'm also a prenatal genetic counselor so I want to introduce our guest. As I mentioned, we have Amy Sturm joining us. She's a genetic counselor and genomic medicine professor at Guys Singer. We also have Aaron Gordon the founder and president of ripple genetic genetics consulting. So thank you Amy and Aaron so much for coming on the final tip speaker series. I'm really excited for all of the different areas of the future of genetic counseling are going to be talking about today. Thanks for inviting us really pleased to be here. And just to remind our audience if you have questions throughout this, please use our Q and a box at the bottom and submit those questions. If you see other people's questions that you are really intrigued by, Feel free to up vote those so that we can answer those at the end and before I dive into my questions that I have, I want to shout out to laura her shires paper which inspired a lot of um my questions in terms of what content we're going to get into.
So if you're curious, you can check out that paper pondering the future of genetic counseling and adolescent field comes of age. So we're also going to link to that um in the blog post for this episode. So if you're really inspired by our conversations today, definitely check that out. So I thought we could start out by talking about the development and use of digital tools in genetic counseling. So focusing on chatbots to begin with, Where are we at? In terms of the use of chatbots right now in genetic counseling amy, do you want to start out giving us a little perspective? I feel like I zinger has a little bit of a expertise in this. Yeah, thanks Cara, I'd be happy to. So um it was 2007 um shortly after I joined by singer, I think a couple of weeks um that our chief scientific officer introduced me to a small startup, clear genetics that was building chatbots to use for genetic counseling. And I remember during the first conversation with the ceo Moran sneer, just immediately, all these ideas that I could think about in the patient journey, you know through learning genetic information really over the course of their lifetime where a digital tool like a chap pot could be utilized.
Um So a guy Singer, we've been working on co development with Clear now acquired by invite a and building out different use cases to test and see how well patients respond to them or not and where we can use these different digital tools to hopefully increase the efficiency of genetic counseling practice. You know take away kind of some of the repetitive test that we don't really want genetic counselors to be doing or even genetic counselor assistance. Um And also some patients prefer communicating in a digital format versus with a person you know quite frankly. So we're really interested in just testing all of these things, seeing how our patients respond to them. We've developed use cases for consent into my code our bio bank which is a large community health initiative that returns results. We have developed one for family sharing so that a pro band can share results with address relatives and then the at risk relatives get this cascade chapeau to go through with them the risk information for their familial variant and hopefully allow them to perceive a cascade testing knowing more information about it.
And then we also have developed use cases for follow up and check in with patients um screening in a prenatal setting. And we're excited to kind of pilot some additional ones as well. And I will say one thing that has been really interesting was when we started this co development work because Guy Singer is in central pennsylvania That is a pretty rural part of the country. We have a lot of um individuals who were kind of naysaying about whether this type of technology would be welcomed by our patient population. And so we did focus groups and we heard that actually even from older individuals in their 50s and 60's that they were open to receiving digital communications. And when we came to the actual clinical deployment to patients, we've seen that about 60% or so give or take are still up taking the chapa compared to a phone call. So it's been interesting. We're going to keep studying this and keep developing new use cases and see how well they do or don't work.
But we're excited about the promise. It's exciting to see just how it can be used. As you said, certain tasks and very rudimentary conversations that genetic counselors are having over and over. Where it's more of like a checkbox of like okay, I just have to cover this piece of information. You sound like a robot. You're like okay I'm going through this spiel again where we can transition to say, okay let's maximize our efficiency and like what what do we want to spend the most time on versus how we can utilize this technology to step up and kind of fill in those gaps. Was that some of that information presented at the last sGC in person because it sounds familiar. Like I remember hearing that older people, it was surprising how many of them were really engaging with the chatbots and like having like a really positive experience with it. Yeah, we presented some of our data so far at sGC and the american society of human genetics meeting as well as the A. C. M. G. Meeting I think a couple years ago. And our first paper on the patient assessment of chatbots with our multiple focus groups of about 62 people I think it was was published in the Journal of genetic counseling.
And we're really excited because I'm the P. I of a grant guy singer received from NIH called Impact FH focused on familial hypercholesterolemia but we're going to be studying chatbots specifically for how they might be able to increase uptake of cascade testing for FH. And we even built in a module where the individual can order their own cascade test right within the chat pot after they go through really pre test education. But again would be something that can be very easily scripted written by clinicians. Um and we feel, you know, hopeful that individuals will feel comfortable then proceeding to that next step of cascade testing. And of course this can alleviate a lot of the barriers of cascade testing um with family communication and geographical barriers going into a clinic to get a blood draw etcetera etcetera. So um you know, we're excited to see how hopefully patients respond well to that too. Yeah. And just as you said like the availability that so many people can utilize this, they don't have to come in person or even sounds like schedule a telehealth consult that this is just available to them to be able to help them understand this and then actually order some of the testing.
I think one of the conversations that comes up while talking about chatbots and using technology with genetic counseling is well, how does that change the role of a genetic counselor? Many people that have been in the field for years, like, well, that's a big chunk of my job. Like how how is that going to change for me in terms of if we are all starting to use this technology, which I imagine that's how technology works. It starts with some people and then it expands out to others. How do you see an errand, feel free to chime in with just how a genetic counselors role is going to shift over the next few years as we start using chatbots and other type of technology that's, you know, kind of, I don't know if replacing is the right word, but really, you know, adding to what we usually do. Yeah, I think, you know, we've seen a tremendous uptick certainly in the last year, but even over the last five years in patient interest in digital tools and that doesn't just apply to genetics, but across the board, patients are looking to take control of their health in different ways.
They were using technology and tools to do that. And I think as genetic counselors, we need to think about what our role is and how we can evolve our perspective on how we relate to patients in order to meet the evolving needs. Um and the evolving approach that patients are taking to health care. So um you know, one way to think about that is trying to help patients using chatbots or other tools. When I was at Gino medical, we had developed something called a genetic care navigator um where patients engaged with video content that was kind of piecemeal doled out to patients based on how they were answering different questions. And that also led them to a point where um that information went back to a genetic counselor for review and then the test was authorized based on that. Um starting with carrier screening as an easy entry point to that. Um but one of the things we have built into that, that I think is really important is and what I used to call an escape hatch for patients.
And I think this is going back to your question here of how genetic counselors are going to evolve with this. We recognize and I think we all have to recognize that some patients really do need help. They're kind of emotionally struggling with the decision. They're confused by what their wrists are, what's happening in their family. We want to make sure that we don't push everybody down a path that they're not necessarily comfortable with and they have the opportunity to ask the questions they have and that genetic counselors are there to provide that service when needed. The flip side of that is not everybody needs that and we need to kind of help patients see do I am I good with this? Do I have more questions and how do we create that conduit for a service when it's needed, Whether it's via telehealth or your scheduling an in person appointment or you're chatting live with a genetic counselor so that the chat box pushes you to live support. One way or another, I think there will always be some patients who have a greater need than what tools or technologies can offer.
It will probably be over time the minority as opposed to the majority. But I think that's really where genetic counselors will continue to come in. And when we think about genetic counseling or genetics serving a larger and larger and larger population, that minority will be large, right? It will be relative to the size of the patient population we're serving right now. So it's just how we think how we continue to think about and be flexible in our mindset around who is our target population right now. It's every patient at risk for a rare disease or hereditary risk factor in the future. It will be everybody speaking genetic testing of which a small portion of them will have additional needs that go beyond what technology can serve. I think that's a good point. Go ahead amy I was Gonna say the playoff you know some of what Aaron said and your initial question I hope it does change genetic counseling practice.
I mean I served as a clinical cardiovascular genetic counselor at Ohio State for 13 or 14 years and you know thinking back about right the same repetitive conversation I had basically of informed consent for genetic testing or the staff of the U. S. Results I had on my desk with all of the panels that we ordered to you know call out um and communicate that type of information or you know even thinking about the lack of longitudinal follow up that I think a lot of genetic counselors want with their patients but don't actually have the time and their practice to do. And I think the digital tools will allow us to step away again from you know these repetitive tasks and um some of the things that really can be communicated by a digital platform um to some of the other things that Aaron said you know with certain patients really requiring genetic counseling. I couldn't agree more and I'm really excited to see what the National Society of genetic counselors pathways to genetic counselors Task force ends up kind of piloting and implementing basically the entire goal of that task force was to develop a set of screening questions to try to help individuals understand if they would really benefit from going down the path of meeting with a genetic counselor or maybe they, you know, feel comfortable with um really where they're at with the genetic information or their genetic questions regarding their own health, their Children's health, their family's health.
And so I'm excited to see what comes out of that task force, hopefully over the next, you know, year or so so we can all keep our eyes peeled for that. And then the last thing I'll say is during some of our interviews and focus groups specifically to this impact FH study. We definitely heard people say the chapel. It is a great tool. I don't think it's a stand alone tool for some people. Some people are going to want to pick up that phone and talk to a clinician with questions or have a clinician order the test for them because they might not be comfortable doing that in a digital tool on their cell phone. So it's going to be personalized delivery of all of this, preparing for a career in genetic counseling checkout keck Graduate Institute in Claremont California at K. G. I. You will gain the training and development to become an innovative collaborative and carrying genetic counselor. Kg I prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally optimized patient care and the translation of applied and clinical science breakthrough to enhance the quality of life.
So if you want to be a genetic counselor, check out K G I at k G I dot e D U slash DNA. Today? Again, that's K G I dot e D U slash DNA Today. Want to become a genetic counselor, curious to learn more about the field. You should attend the virtual open house at Sarah Lawrence College. In this event, you will learn more about what it's like to be a genetic counselor. You will have the opportunity to ask your questions live. You can also hear insight about the genetic counseling master's degree program at Sarah Lawrence College. I graduated program last year and I'm really looking forward to attending and chatting with you all Open houses on December seven. So mark your calendar, Sarah Lawrence College is where genetic counseling was founded in 1969 and was the first program, it remains the largest genetic counseling program in the world. One in five genetic counselors graduated from the program, which means has an expansive alumni network, which I love, some of whom you can meet during these open houses. Go to slc dot e D U slash DNA today or use the links in the show notes to sign up for the free genetic counseling open house.
Don't forget to mark your calendar for december 7th at six p.m. Eastern. I'll see you there. Do you or someone you know how Prader Willi syndrome. You should check out a new clinical study in the United States, this study will be evaluating the safety and impact of an investigational medication on excessive daytime sleepiness, cognition and behavioral function in people with Prader Willi syndrome. Use the link in the show notes to learn more about the clinical study and refer a patient to a study center. The link is also available at D. N. A podcast dot com. More clinical studies for genetic conditions can be found no rare dot com. I think another aspect to using these digital tools and having it so systematic is that patients will all receive the same information that there's not going to be a difference between well, we sat in the session in the direction the conversation went this way and so, you know, I didn't talk as much about this top because I wanted to or you know, everything is gonna be a little bit different when it comes to when people are talking, but when you're talking to a chatbot, it's going to be the same every time. So I think there's also that advantage to it.
And coming from, you know, being a prenatal genetic counselor when I have a patient coming in for, you know, it's their fourth child. It's their fifth pregnancy, whatever it is, it's like they sit down there like, hey, just so you know, like I've been through this many times, like, and I'm like, okay, great and like, okay, what do you remember about this? And touching base on it, you know, I'm sitting there like, it's always great to talk to patients and especially if they're returning, but also does this patient really need to be sitting here with me? Would would they benefit from a chat about where they say, do you remember this part? Do you want to do the same testing as last time? Um So there's certainly a lot of, you know, different ways and I'm sure we've all been sitting there in sessions like, you know, this really could I could just put a tape recorder on and like just go in terms of like what I usually talk about. Um So I think that's really, really good points and just where we're headed. And I like the the concept that we do need to change our role and that's going to change. So looking at how we're going to be doing that and utilizing these tools as we're going in that direction. Another popular digital tool is the pedigree builders.
And there's quite a few available to genetic counselors and other health care providers. How have you seen the adoption of these pedigree tools? Change genetic counseling. Especially in terms of, you know, now that we're a year into the pandemic of more genetic counselors doing telehealth and working from home. Um Aaron, I don't know if you wanted to start out with just your thoughts on how you've seen digital pedigree tools. Change genetic counseling. Yeah, I mean, it's interesting thinking back, I've been a genetic counselor for 20 years. Um and we had a very early version uh that we used when I was in graduate school and then I worked in several practices over the years that didn't use anything digital and we were just doing it on paper. Um and and I think you know the move towards something towards a digital pedigree tool can make has the potential to make jet accounts and so much more efficient. We currently, what a lot of practitioners do is send out their family history questionnaire.
It comes back either in advance of the appointment or with the patient. You're reviewing words on a page that are not stored digitally anywhere and then you're reviewing it with the patient and redoing the pedigree. I see your mother had whatever at this age. Um I think having um digital pedigree tools that are linked to patient question errors have the potential to allow us to capture all of that information building risk assessment tools so that either from a chat about perspective, it could be launched and the patient could be presented with their risk to say based on the information you provided. Your risk is X. Y. Z. Would you like to continue with this platform or schedule an appointment um And or if the patient is scheduled to come in, you know, that's already in front of the genetic counselor, they know where the patient stands. You know, they may have a couple of follow up questions of things that maybe weren't answered or there was something unusual put into the questionnaire as we know happens sometimes.
Um but I think it has the potential to reduce a session by probably 15 minutes or more. And when we think about the need for efficiency in health care the cost of health care rising I think that is a tremendous asset. Yeah definitely. I hope that more systems will fund you know buying these programs for their genetic counseling teams because if they can you know there are a lot of different tools some are probably even freely available but then some that may even be able to be integrated into your E. H. R. Um where a patient can fill it out from home and wow how beautiful would it be if it could you know populate a pedigree or maybe even integrate straight into the HR or pull data from the H. R. I mean this is like the dream come true which I think is possible. We don't really have the perfect tool yet. Um But it's very very true. I mean that Guy Singer and a lot of our clinics we have genetic counseling assistance getting on the phone and calling to get pedigrees ahead of time that's helping the genetic counselor with efficiency.
But it's still people time on the phone working to get pedigree information that again like Aaron said maybe then re reviewed by the genetic counselor in a pretest setting. So there's still a lot that I think we could do to increase efficiency and use family history collection and risk assessment tools and then that data is stored in a digital format and then hopefully the patient can have that file and update it over time versus again having to take, you know, man or woman power to fill all of that out over time. Yeah. Just to add one more things that you know, I mentioned the integration of risk assessment but I think the other real power is there are Over 5000 genetic diseases. Many are very rare and what we know about them changes and evolves as we do more genetic testing. So we see a patient who has symptoms exp iZ there is an ex home done and we find that this person has a mutation in a gene where only one of those features was associated previously.
So, having a digital tool that can be updated to amalgamate symptoms and provide a differential diagnosis I think is also an incredible tool that will change the practice of genetic counseling. Like we're all limited by human knowledge right now and the number of features that we can identify as being part of any syndrome at any given time. And I think as we see that diversifying as we see increased variability. Having digital tools to support that and integrating that with patient data collection and had a greek creation would really change the field. Yeah, I think both of you are really capturing just like where we are headed with the future of genetic counseling and exciting to see that you know tips is developing and has a lot of these tools already available. So like Amy you're mentioning the HR integration pulling data from the HR family history questionnaire that auto populates a pedigree.
So you know the diagnostic suggestions in terms of like what symptoms were seeing. Um So I definitely recommend for genetic counselors just to play around with fingertips and see like what there is there. Um And just seeing that a lot of this can be done ahead of time. I mean if you have a patient filling out a family history questionnaire at home as opposed to your suddenly asking them these questions in the office. We've all seen this that when when people get to do that part of their homework at home then we get a lot more information because they end up calling family members, they end up doing a little bit more of a conversation and discussion with people so that they're really getting as much information as possible which is going to lead to better patient care. So certainly you know it all kind of goes into seeing how much information we have and then how we are able to process that and updated at later times. Do you know the power of apologetic risk scores. Apologetic restores, allow healthcare providers to more effectively help patients lower their risk of life threatening diseases.
A silica has designed cutting edge tools to reduce the impact of common diseases through genomic medicine. Apologetic risk score analysis and reporting can be conducted through a lilco secure interested platform their end to end apologetic risk or pipeline can determine a patient's absolute risk of common diseases. Through a simple file upload of their genotype data, A la liga's apologetic risk or modules for new score discovery and validation, performed the work of a team of bioinformatics shins. This enables researchers to generate the best performing apologetic risk scores using multiple gold standard algorithms, publication ready results can be achieved without months of bioinformatics efforts learn more in our upcoming episode with the Lyrica in january, but if you can't wait head over to Alexa dot com Aleka empowering the next generation of clinical genomics for centuries humanity has imagined a magical fountain that could unlock eternal youth. New scientific advances suggest this might actually be a reality in the not too distant future. Journalist keith McArthur explores the mysteries of aging and unlocking the fountain from cbc podcasts, real meat dreamers skeptics and cutting edge scientists including those who believe that the first person who will live to 150 years old has already been born, keith McArthur hosted unlocking braces, brain which I recommended last year and now you can tune into his brand new podcast.
I've already binged all the episodes released so far. So catch up with me by listening to unlocking the fountain everywhere you get your podcasts. If you have patients with Prader Willi syndrome, please let them know about a new clinical study. Looking for participants across the United States. This study will be evaluating the safety and impact of an investigational medication. The study will focus on excessive daytime sleepiness, cognition and behavioral function and people with Prader Willi syndrome. The study participation is four months long and consists of five visits. If you're patient at your visits, you will participate in sleep tests and have general check ins on how you're feeling. There are 13 trial sites in the United States with travel reimbursements for families. You can also learn more about other clinical studies for genetic disorders through no rare.com. There are studies for sickle cell achondroplasia, cystic fibrosis and more. Again, that's no rare.com. Stay tuned for full episode about Prader Willi Syndrome, including this study on November 19 or for yourself, a patient or loved one of the study by visiting the links in the show notes, which is also available at DNA podcast dot com and erin, you mentioned you know with rare diseases and whole exon sequencing just becoming like now first line test for undiagnosed diseases.
How how has this lead to more conversations in terms of like whole exon sequencing medical value as a predictive test in terms of the general population. I mean we've been talking about how as genetic counselors were going to be you know, seeing that more and more people are getting genetic testing that you know wasn't doing that you know decade ago or so as just more is available in terms of that predictive testing. I mean where are we at in terms of whole exon sequencing in that new newer area of predictive testing as opposed to someone has symptoms where they have an undiagnosed disease. Yeah, so I mean I think there's two ways to look at that. One is I think we're going to whole XOM sequencing much more quickly in patients with clinical features that are not super specific for a single genetic disorder. Um So um that could be the front line test, it could be the second line test after, you know, a panel uh that is targeted towards the features that they have that might come back negative.
But I think the other element of that kira is um a movement towards whole XOM sequencing for healthy individuals looking to identify health risks. Um So this is a really interesting area and one that we've explored a little bit actually through some employer programs um where we've worked with when I was at gino medical, I should specify. Um We worked with some employers that we're interested in offering genetic testing to healthy individuals within their organizations. No information went back to the company, everything was compliant under hipAA but they were looking at it it as a wellness benefits. Um So I think there's a lot of enthusiasm there. I think what's important for um providers to understand and patients to understand is really what is the lab returning there Because in general when we think about whole XOM or whole genome sequencing obviously the amount of data generated is enormous.
Um And there are so many variants of uncertain significance identified. Um Usually the report tends to be limited to recessive diseases that are common in carrier screening. Um pharmacogenomics and um and and I'm reluctant to call it the A. C. M. G. 59 but I think many listeners will recognize it in that way. Some modified list that relates to the A. C. M. G. 59 of actionable adult onset actionable diseases. Um And labs in many cases will not actually interpret variants outside of those specified gene lists. And so I think it has great potential to provide insight to actionable adult onset diseases. Um And pharmacogenomics but I think considering going into those, what what are the expectations of the patient, What are the expectations of the provider and making sure that those are aligned with the test being ordered.
There are other ways to get that information through healthy genomic sequencing panels through pharmacogenomics testing and in many cases carrier testing off of a whole XOM or whole genome don't actually include triplet repeat disorders like fragile X. Which would often be included in a carrier screen? So making sure again that there is alignment on the expectations. If this is being done with reproductive planning being the primary motivation, this may not be the best panel so or the best test for that individual. So I think there is a lot of interest in that. I think there's a lot of opportunity and power but it has to align with the motivations of the patient. Yeah. The other thing I would chime in on this topic is at Guy Singer. Um one of my main roles as I co direct what we call our my co genomic screening and counseling program. And essentially what that program is is for the quarter of a million people who have enrolled in our bio bank.
My code at Guy Singer. We return actionable results back to patient participants who have enrolled in my code. And you know the major question for our program which is a clinical program but we perform research, you know surrounding really everything from the I like to say the five prime 23 print end of this you know program is what's the clinical utility. So there are a lot of questions. I mean when you do kind of look at that a CMG 59 that Aaron referred to. We don't have data for all of these conditions if we screen people for pathogenic or likely pathogenic variants in the genes associated with that list and with those diseases in un selected healthy populations of patients do they actually confer the same level of risk as in patients and families that are clinically ascertained. So we're hoping to help generate data to answer that question. Um you know, kind of about the penetrates and risk in these patients.
We have published some of our data on clinical outcomes um and clinical features and kind of next health behavior steps that we've seen for the Tier one conditions. So hereditary breast ovarian cancer syndrome, lynch syndrome and familial hypercholesterolemia. And what we've seen so far, at least with that cohort is that about 90% of people who had variants for those conditions. Didn't know about it from clinical genetic testing previously. Yet our team did very thorough chart reviews of our electronic health record. We did see prevalent family and personal history of these conditions, whether it be hypercholesterolemia or cancers et cetera. And when we return these results, we also saw a difference in pre disclosure to post disclosure risk management. And then the next step for that, we saw new clinical diagnoses. So, for F. H. You know, new people with LDL cholesterol levels over 1, 90 people being diagnosed with classification or atherosclerosis.
So I think we're beginning to see real promise um with the Tier one diseases. Now we're also looking at other conditions like arrhythmia, genic right ventricular cardiomyopathy and we just published a recent paper in that population who have received results too close to about 100 patients. And if anyone wants to look at that it's in circulation genomic and precision medicine. But we're finding much lower apparent disease risk in people who are getting Air B. C. Variants. Now we have more work to do because the population is a higher female um population and they are older. So there might be a survival bias and the patients that we're looking at in our program. But there's a lot of research to be done for all of these different conditions to be able to give genetic counselors the data that they need to counsel patients appropriately on what these risks even mean. And I'm really excited to see, you know what happens when all of us research program starts returning results hopefully for the end of this year it's going to be really interesting to see the learnings of that program to to help inform the field.
Yeah. And it's just, sorry, go ahead. Aaron. There's just going to say, I think amy a little bit of what you just said though speaks to are our lack of ability to identify the right patients. Um you know, we know there has been an underutilization of genetics for years and you just mentioned that some of the patients in your cohort when you go back, you do see that they had a family history um and maybe we're under identified. And I think you know, We recognize that we have not been identifying the right people or not been referring them to genetics as needed or ordering genetic testing is needed. There's so much data out there that supports, you know, 30% of patients with ovarian cancer actually referred for genetic screening should be everybody. You know, there's example after example, in lots of different diseases. And I think that is an argument for population screening because I don't think we're magically going to close that gap, right?
We can we can continue to point to what the risk factors are. But I I think the chance that we're going to get from, you know, the small percentage of patients that were actually capturing and those are those who, you know, who can provide us with a family history and many people can't for any variety of reasons. So how do we identify those patients prospectively and then pair that with the data that Amy was referring to so that we can then counsel those individuals with pathogenic or likely pathogenic mutations appropriately. So then they can take steps to um improve their long term health. Yeah, I think the other interesting thing about population genomic screening and that are uh this initial paper that we published in genetics and medicine really elucidated for us was population genomic screening is not a one size fits all at, you know, a certain age. Either. For example, our data showed us FH was a huge missed opportunity. I mean, so many of our patients that have been identified and then received their genetic risk variants from our program already had significant cardiovascular disease and atherosclerotic um cardiovascular disease.
And so if we could do population genomic screening and return results for FH at much younger ages, you know, firmly advocate that and hope that that would be acceptable to patients and families to undergo those types of programs because I I totally agree erin I mean our data has showed us that we are consistently missing people with real genetic disease risk. We need to do better. I think my point is mainly, you know, for some of these conditions, it's very hard to provide genetic counseling for them because you get this risk result. You're talking to a patient who has, you know, maybe they're middle aged and they have no personal or family history of this condition. And so we have struggled with this and we've opted to tend to be more conservative just you know, in case there is some disease risk in these individuals. And so we still are recommending clinical screening. But then is that an overuse of the health care system, we don't really know for some of these conditions. So I know that, you know, there's other programs like ours out there that are hoping to just generate more data that can really be used to help people understand what their real risk might be.
So then what would be some of the steps that we need to take in order to achieve population screening? I mean obviously there's going to be so many different things we've talked about FH we've talked about ovarian cancer. Um but what do we need to do in order to get to a point where that is becoming more standard of care is that going to look like newborn screening where there's a heel prick test and this is being added to newborn screening? Am I too far like 50 years in the future? Like what do we need to do and how would you want that to look like? I don't know amy if you wanted to start out with that? Yeah I mean I do think we need to talk to clinicians and talk to uh people to hear, you know, what is their acceptability to this type of information? What would they need to want to undergo this test? Um At Geisinger we have a similar program, it's really more of a population healthy screening program where we've tried to integrate this in primary care with a a few certain select primary care clinics and the whole notion is that very easily it's all built into Epic the primary care physician can offer the pop health screening, you know DNA test to their patients in a clinical way and um can sent them verbally and get that sent out with a blood test to get back essentially the same thing we're doing with my code in a research format that is a clinical test and not, you know, we only started this as a pilot for funding reasons but also I don't think all primary care clinics would probably be open to doing this, you know, today.
So again, what data do we need to generate to show the primary care providers this information is important to your patient. They want to do what's best for their patient. They're used to doing regular screening tests like cholesterol panels and checking blood pressure and you know, mammograms, et cetera, but they need to see the value in the test. Um Of course you can also go straight to the consumer. Right? And so I think there's a lot of ways we're going to have to kind of attack this issue. Um but I think at the end of the day to we have to show that there's value in doing this. Yeah, I would agree with that. And that also relates back to payment. So I mean I think we're conditioned although we don't have socialized medicine. We, you know, the expectation in the US is that your health insurance company will pay for your care or a portion of it if it is medically necessary right? Most people are not expecting to pay for their mammogram out of pocket. Uh they may have a copay for it or coinsurance but they're not expecting to pay for it in full.
So if there's no coverage for healthy sequencing, I think there's going to be a perspective on the part of health care providers and the public that it is not medically necessary. So I think there's there's a number of steps that need to happen in terms of research and policy making that would influence our use of healthy sequencing one is better understanding the data. Um you know, what are the implications of positive results for the different genes that would be included. Um what are the long term outcomes of those individuals who received healthy sequencing? Are they changing their behaviors? What are the recommended steps? Um and what is the financial benefit of doing that? And then the next step is taking all of that data to payers uh to try and convince them to include healthy screening and coverage because without those things, I mean I think we would see a very low uptake, you know, we have to prove to insurance companies and you know, other parts of health care to say like this is why it's important.
And this is looking at the prevention side. If we can identify someone that has one of these disorders, look at the treatment versus you know, the um after someone's diagnosed. So prevention versus treatment and just like the cost, you know, fiscally of that, but also just on the patient's life and and how that impacts human lives and families think cost unfortunately is a conversation that we often have to have in fighting with insurance companies and looking at, you know, how are we as a health care system going to handle this, Wanna chat with genetic counselors, you should attend the virtual open house at Sarah Lawrence College in this event. You can learn what it's like to be a genetic counselor and you'll have the opportunity to ask questions live. You can also hear insight about the genetic counseling master's degree program at Sarah Lawrence College. It's the largest program in the world, which means there are so many alumni to connect with, including myself. I graduated from the program last year And I'm really looking forward to chatting with you the open houses on December seven, go to slc dot e D U slash dnd today or use the links in the show notes to sign up for the free genetic counseling open house.
See you there if you're interested in a career in genetics. I highly recommend checking out KGs. Master in human genetics and genetic counseling program in Claremont California. Kg. I emphasizes inter professional collaboration, systematic problem solving this safe, efficient and ethical uses of biotechnology and personalized patient care. This is all accomplished through a variety of experiences including rigorous didactic coursework, clinical training, research preparation and supplementary activities such as case conferences, grant rounds, journal clubs and seminars. The KGB program has established affiliations with multiple genetic centers throughout southern California which offer access to tremendous resources for clinical industry and laboratory experiences and provide a culturally dynamic enriching environment for genetic counseling students. Kg is dedicated to the education of innovative genetic counselor who will serve the needs of individual patients, the health care system and the bioscience industry. You can learn more about the program at K G I dot E D U slash DNA.
Today. Again, that's K G I dot E D U slash DNA. Today, understanding how our DNA contributes to disease risk is no longer science fiction. Apologetic risk scores add up the effects of thousands or even millions of genetic variants spread across the genome. We can use apologetic risk scores to assess how a person's DNA influences their risk of common diseases. A la liga has created a secure entrusted platform for apologetic risk score analysis and reporting health systems, clinical laboratories and research institutions can be equipped with the Lillikas, cutting edge tools to deploy apologetic risk scores to identify more people at high risk to reduce the impact of common diseases, interested in learning more, visit a silica dot com politica empowering the next generation of clinical genomics. I just saw a question pop up in the chat, definitely feel free to pop in your questions in the Q and a box. We're going to get to those at the end. So going along the lines of cost of genetic testing but also treatments.
We've talked about rare diseases a couple times. The cost for rare diseases for the treatment can be astronomical. I mean it's very expensive if you have only a few people with that condition that are paying for a medication once it is developed. An example of this would be spin rosa is just an incredible drug that's helped the lives of people with S. M. A. But it costs over a million dollars. So that's such a limitation in terms of people's access to this life altering drug. It's creating a disparity in terms of the people that can receive this treatment. How can genetic counselors be more involved with helping to address this disparity? I mean just with costs of treatment but also the other areas of costs that we've talked about. I mean do you have thoughts to start us out? Yeah I mean even you know I was thinking about to the previous question the cost of whole genome sequencing. You know if you want to be direct to consumer and kind of initiate that already yourself and costs have drastically dropped for sequencing.
And you know I found one company that has 2 99 for their 36 or 30 X. Excuse me. Whole genome sequencing tests and 9 99 for their 100 X. Okay great. But we already know there's a major health disparity there between people who can access even something like that. So when you bring up the drug for S. M. A. And S. M. A. Affects everyone no matter where you fall on the line of how much money you make per year. So I mean genetic counselors are great advocates. I think we can work with advocacy organizations. I know many of the advocacy organizations go straight to Capitol Hill to fight for access for everyone with these conditions, not the ones not just the ones that can afford it. Um So I think that there are probably ways that we can advocate on behalf of our patients um that are underinsured, uninsured, do not have the financial means to access these types of medications. Um I don't know if erin has more concrete ideas, but I think a lot of advocacy individually with your patient and your family um needs to happen.
But then also advocacy. I think partnering with patient advocacy organizations in Washington D. C. Can be really important to. Yeah, I think um but it's so important to consider the full equation here, right? Because the cost of caring for an individual with S. M. A. Is astronomical, Right? So the cost of the drug is very expensive. But the cost of care, the cost of uh parental time away from work, right? It's not simply, okay, this child is gonna go to see a specialist X number of times a year, there's home health, there is ventilators, there's wheelchairs, there's other adaptive medical equipment and then who's taking this individual to all those doctors appointments, who's providing care? How are they contributing to the workforce in the way that they would have otherwise.
Um so the full picture of caring for an individual with S. M. A. And taking all of that into account and I have no doubt that the data is out there especially for us may because um you know the drug is out and I there are payers paying for that. But I think it's so important as genetic counselors that we continue to advocate for those patients and take into account those other pieces. Right? It's not as simple as the cost of the drug. It's how does that the cost of that drug, decrease the cost of care for that individual, decrease or increase the amount of work time and productivity for their caregivers as well as increase the societal contributions for that individual with S. M. A. Over the course of their now much longer lifetime. Right? There are so many different factors that go into that.
Um and I think raising awareness of that among the genetic counseling community so we can best advocate for our patients and and as Amy Said, partnering with advocacy organizations and partnering with the drug companies who are frankly taking a risk to invest in rare disease to help patients with rare disease. Clearly a shared mission and looking for opportunities to work closely with those organizations to forward that cause uh is something that genetic counselors can do. Yeah I think that's beautifully stated and just that genetic counselors can contribute to all of these different areas and have People connecting so that we can be having these conversations so reaching out in terms of advocacy to these different groups and saying, Okay how can we brainstorm together and bring all our skills to say where are these gaps? How can we help? And you know, looking at the big picture that yes, $1 million, that's a lot of money for most people. But then looking at, okay, well what is the lifetime cost of S.
M. A. And looking at those other factors like caregivers time and you know, either hiring someone for that or a parent or family member that is not able to work because of that or has to work less. Um we have a couple of things popping up in the chat that I want to pop to. I'm going to paraphrase a little bit for this just because of time. Um but someone writes as you alluded, there is no one model that fits all and we could think of approaches as age specific genetic risk factors, certain genetic risk that could be more important or appropriate at certain ages. While keeping patient autonomy in mind. The use of technology would certainly need to play a notable role as we branch out to providing genetic counseling for common diagnoses. What are your thoughts about how to design such programs within the very fragmented United States Healthcare system where we have millions of people without any coverage at this time. And I know we've kind of talked about um you know this conversation anything else to add? Um you know, looking at just how to help people that do not have adequate health care coverage for what they need.
Well and the other thing I was thinking as you said that Sarah when I heard coverage, I was also even thinking about internet access, right, because I mean we we have patients who have no internet access so we can't really send them a chat pot. I mean it's just not gonna work and we can't send them electronic family history for him because they don't have internet access. So again, um I think genetic counselors are amazing advocates uh thinking about some of the ways that we need to improve health for all. Um even in right coming down to access to healthcare access to internet because we can't only developed tools um that are only going to really be helpful to certain segments of the population. Um So that's all I really have to add on that point. But I was thinking too about the internet access, I'll just add, I think it goes back to the question particularly as we think about population screening of how we generate that data and how we convince providers and payers of the value.
So when we were talking I feel like we kind of skipped to payers but providers are really critical component of this, everyone from the er physician who may treat the common cold because patients don't have health insurance and don't have a primary care physician to um to primary care. How do we convince them, how do we generate the data and then use that to convince them of the value of genetics in identifying risk factors for common disease. So we can be more proactive about it but then it's also making sure that Medicaid covers it, that um that other that all of the HDs cover it, I think we need to make sure that um that coverage becomes equitable. Uh so that it's not just certain people and that access can be reached through any mechanism but that is going to take a system wide initiative um and that's only going to be driven by data, frankly, I don't think we're there yet.
I hope you know, I know guys Singer is generating some of that data, I think many of the other health systems that are working on population health will cumulatively get to that point but I think that's still several years off but we should be planning for, how does this become a nationwide rollout? How do we account for those discrepancies in access both on a health care provider level, on a payer level, on a connectivity level. Uh So there's lots of factors there but I think the starting point is really the data. Yeah and to that point where we do have data is to show the value of genetic counseling. And so thinking about access, we know there are disparities about access to genetic counseling to um, we've definitely seen publications to that effect that minorities do not have the same access to genetic counseling um, as majority populations. And we do have a bill, the access to genetic counselors act. And the new number in our newest congress is H.
R. 21 44. And you know, this would improve access to genetic counseling for Medicare beneficiaries. Um again, just to make sure that hopefully all individuals have a level playing field with being able to access to the genetic counselor who oftentimes is that health care provider who helps the person get on, you know, their genetic personalized care plan that they need. And so I wanted to make sure we have a shoutout. We're advocating, we're building our grassroots efforts. So please join us in advocating for the access to genetic counselor services act. Um, and I saw recently, and I don't know if it was the list serve or some email maybe from NSG see directly that there is something that genetic counselors can join, kind of the later half of May. Um, I don't have the details in front of me, but certainly we can add that to the blog post for this episode because, you know, it's very important that we do, you know, support HR 2144 and having that is going to lead to increased access as Amy was saying there, Aaron, did you have something to add to that? Yeah. Just to mention that although that would provide um payment through Medicare, I think it's important to note that a lot of commercial payers follow the guide of Medicare.
And so that could in addition to directly impacting Medicare could actually impact the practices of many other players around the country. And so so valuable from many different perspectives. Yeah, certainly. And kira, that's right. We're going to have virtual hill visits. Very exciting. You know, we might not be able to go straight to Washington D. C. But hopefully soon enough we will. So we're going to be having members meet with their members of Congress virtually. And we would love um you know, just as many people as possible to step up and do that. Yeah, certainly. And we'll include the link to that. Since I don't have all the information in front of me. Um, so that's something that genetic counselors, that's a way that you can directly be involved in support. Um we have a question coming in with the emergence of population screening an apologetic risk scores and thinking about scalability of genetics to a broader patient population. I'm curious to see how you see the genetic counseling workforce changing in the years to come? Well we see more GCS working the non traditional roles, which is a question I was also thinking of of we've had really the big three areas of prenatal pediatric and cancer, but that's really shifting even like, you know, amy with cardiac genetics, that seemed to be a big area of the pie that's been growing.
What areas do we see that are also growing or is that going to change where we're not even going to have that term of nontraditional anymore? The big three areas. Do we see that that's already outdated isn't about to be outdated. I think it's outdated. I think that um you know what's traditional anymore. Genetic counselors are doing so many more things and have already integrated in so many more areas beyond really our foundations of prenatal and cancer in pediatrics, which we're stuck. We are still so very needed in those areas. Um but I mean, right, cardiovascular genetic counseling has been around now for my goodness 15 years I think for those of us who really kind of started working in that space. Um and neuro genetics, pharmacogenetics, population screening, which we've talked a lot about today. And I think the role has evolved so much for all of us that we just need to throw the word non traditional out the window. I think we've talked about that for a while. And we're all genetic counselors were all doing very similar things in different areas.
Um as far as apologetic scores. I'm really excited about the promise of those to identify even more individuals who have very significant genetic risk. I think genetic counselors can leave the integration of apologetics scores into the clinic and hopefully work really closely with primary care and specialists just as we have from dandelion disease risk. Um, but I think we really need to get primary care physicians on board for things like pharmacogenomics and apologetic risk scores because these scores could potentially apply to every single patient. And so we're going to need to help our primary care clinicians in the delivery of this. And I think genetic counselors are really well poised to help lead that immigration. Yeah, I would absolutely agree with that. I think, um when I started in neuro genetics, so I started in a non traditional role and I have continued to work in very non traditional roles um, over the course of my career. Um, so I think throwing out that term would be helpful for better integrating the entire genetic counseling community and kind of taking out some of those walls that have come up, we've seen a tremendous growth in genetic counselors working outside of traditional clinical settings.
So in laboratory settings and research settings in in pharmaceutical companies and other roles over the years. And I think that's really a testament to the versatility of our skill set and what we bring to the table. Um, with respect to um, I just forgot my train of thought um with respect to how we can break down some of those barriers um, and continue to support the changing workforce. I think we will see a movement towards more and more physicians embracing genetics. Um and I think going back to the idea of tools that we talked about earlier, I don't think we always need a genetic counselor there for a pretest counseling session, but I do think we want to create work to have genetic counselors and positions where they're there to support physicians who are routinely using genetics. That may not mean meeting with the patient themselves, but creating a relationship or a point of contact within a health system where that physician feels like this is my genetic counselor, who I can reach out to.
I trust them, I rely on the guidance they provide and they're there to phone a friend, right, so that they can guide the practice because as the use of genetics grows ideally through the use of tools and technology, the primary care physician, the cardiologist, the neurologist, the ophthalmologist. All of these specialists are going to be using genetics in their practice and there is no way they're going to refer every single patient they see through genetic counselor and we can't necessarily support that population at this point, given the size of the genetic counseling workforce, so create changing that relationship so that we're there to support them so that we can help them triage help them identify patients who might need a deeper level of care, a greater level of expertise that the genetic counselor can offer, I think is going to be absolutely essential and I think it is more physicians and other healthcare providers are using genetics, it just becomes more useful for them to have us as a resource.
And so for us to be more valued and just used in terms of understanding like who needs counseling and like what do they need. Um we have a couple of minutes left. I don't know if we'll get to all the questions, but our next one is, could you discuss the role of GCS as patient navigators if we are trending towards the genetic counseling across the lifespan. So it's kind of a topic we've been talking about a bit um Amy, how do you see this in terms of genetic counselors having more of that patient navigator role in having being more involved with people throughout their lives and not just at certain points. I love this idea. I think it's something that I hope we can actualize whether it's kind of your genetic counselor, you know. Um and this makes me wonder, will we um kind of transition to be masters of all and generalists again, which stresses me out because I think that leads toward the masters of nuns because I don't feel confident that I could really provide genetic counseling for everything across the lifespan.
So how do we basically design a system and it is very well probably going to be different from again health care system, health care system depending on what resources you have but where the individual does not access a genetic counselor just once. Um you know we've had people receive a my code result who based on chart review we saw they ended up not discussing that with our genomic counseling team. They discussed it with the prenatal genetic counselor because guess what? They happen to just have a visit with that genetic counselor because of their pregnancy. And it came up almost as a hey side note. So these types of things tend to happen and I think we need to think about structures and systems to better support people as they navigate genetics throughout their lifetime. Um we are really interested in this concept of patient navigation because when a person gets their risk result from my code they might be dealing with. And we've seen all of this, a family member's death, their own chronic condition, you know, a global pandemic.
Okay so how do we make sure we set up a system that can check in on them over time and if we're returning a result to an 18 year old for B. R. C. A. That they actually do start, you know getting their breast mris at 25. So it's going to have to be attacked I think from many different sides not just a genetic counselor who serves as a patient navigator because I don't think that's scalable. So again it kind of makes me come back to digital tools, you know, we've been building in genomic indicators into epic that are meant to automate health maintenance topics that go to the primary care position again so that that doctor will get a notice that when that patient comes in to see them um that they hopefully will get that MRI ordered at the right time. We know there's going to be you know, issues with that with interoperability of healthcare records as well. But um I think testing whether genetic counselors as an intervention with patient navigation is actually one of the first steps. Um hopefully we have some excited genetic counselor researchers out there listening to this podcast who could even do some trials to look at patient navigation compared to usual care or other interventions to again see how these interventions can help people kind of follow on the screening and surveillance recommendations.
We give them again to generate the data and the value of that because at the end of the day we will need to get paid for delivering that service to Yeah, I think that's very well said and I think we could go on for hours about this. Unfortunately we are out of time for today. Um but thank you so much Amy and Aaron for coming on and just sharing so much insight of looking at the future but also where we are now and helping us get to where we want to be as genetic counselors and with the field so you'll everybody, you'll see a feedback link in your browser once this webinar ends please take a minute to fill it out and offer your feedback and you can also pick topics that you would like to see in our upcoming sessions of the final tip speaker series. You'll also receive a email with the feedback link in case you missed after this. So you're headed to another meeting. The emails going to include a link to register for our May 19th next episode of this the speaker series, it's going to be about integrating genomics into routine clinical practice. Uh so definitely check that out. You can go directly to fingertips dot com to look at more information about the speaker series.
Just click the resources tab and it will pop up on the drop down menu And all the installments of the final tip speaker series for the past almost year are available on there to stream. So if there's something you want to watch back or if there's an installment you miss definitely check that out. Fino tips dot com. Next our again our next webinar is integrating genomics into routine clinical practice on May 19th and if you've enjoyed this conversation um check out my podcast, it's DNA today on social media podcast players or go directly to DNA podcast dot com. So thank you again Amy and Aaron for coming on. It was so interesting to pick your brains and all of these topics. We covered a lot of information. So I just really want to thank both of you for taking the time to talk with me about all these really interesting topics that we're just headed into with genetic counseling. Well, thanks for being our great host today, Kira. We're going to have to do it again because I think, I think so. So bookmark the questions we didn't get to write. Thanks so much for having us. All right. Thank you everybody for tuning and it's been lovely having you and we'll see you on May 19 for our next webinar DNA we're made of.