 So Catherine had mentioned and rightfully so that current genetic testing in the modern era really focuses on symptoms, really focuses on patients who are already diagnosed and then undergo genetic testing but we clearly see that that's not enough currently. We clearly see that these patients are being diagnosed late like Mark Silver had mentioned and currently what we're what we're doing is not enough. We're identifying them too late and these patients already have a higher mortality than their counterparts so something needs to change. We know that these patients are already underrepresented in clinical trials and if we can identify those who may be at risk for developing disease earlier there are preventative methods that are being explored in in vitro models currently and so once yes these are not prime time yet but once these go into effect we're going to see more of a shift towards preventative therapy for amyloid rather than treatment of amyloid in the future. The last thing I want to mention and I'll pass it off to Sonia is the cost of drug so cost of tafomitis as we talked about earlier 225,000 this is a disease process that is has already been underrepresented and under diagnosed in several areas and geographic locations within the US and that's what's contributed to the high cost of medications for these patients. If we can identify more patients at risk and subsequently more patients who may develop disease we're expecting the cost of medications disease modifying medications that can be life-saving to go down for a vulnerable population. Yeah I think those are really great points and you know Catherine and I were chatting ahead of time saying that we're probably going to have a lot of similar slides and points coming from the same professional perspective and she was most definitely right. You know there are certainly complex results we can get back from genetic testing which is why genetic counseling or involvement of a geneticist or other genetics professional is really important with implementing this type of testing. Should the lack of resources that we currently have available make us say no we shouldn't do this I think it means that there's a goal for what we should be doing in the future and a future that we should be building towards. Dr. Silver you had mentioned you know from that AMBRE report that you got only 15% of black patients had come back with a pathogenic result. In my head that's a that shouldn't be an only that should be a 15% came back with a pathogenic result but that's 15% of that population who now has something if not actionable, educationable that's a word that they can be chatting with their providers about and letting their family members know about education like you mentioned is so important educating about symptoms we should be aware of and you know things that family members should be aware of yes and that's really the importance of genetic testing and the education that comes along with it so you know I think that's a big percentage in my head I know that's relative but in my head that's a big percentage of people who could be benefiting from this type of testing. We're moving on to yeah all right so I suggest that we implement I love what you said I say we work together I suggest honestly no honestly I think what this is all coming down to is increasing education and I think if we start there because I would agree with you that the prevention piece is huge and the whole purpose of screening in genetics is prevention and that that's exactly why we do what we do as genetic counselors we do that because we want to prevent diseases so I say we work together and not argue and decide who's right and say that we do some education around why it's important to know about your symptoms what are the symptoms what is genetic testing what isn't genetic testing how will it help you how will it help your family how will it help your clinician how will it help the researchers and if with that piece with that education piece you increase the number of jobs for genetic counselors who could be doing this education and implementing some of these strategies and working with the clinicians and working with the research studies thank you um you know I um I'm all into aspirational medicine and I was talking with paul earlier we both worked in an area that led to the transformation in heart failure from beta blockers being a taboo drug therapy to being a mainstay in one of the four pillars so I I really get that and the 15 percent I'm proud of too the problem is is that and I look at our personal results you know it's 50 50 split between wild type which doesn't help you and and then we also have a lot of al's too and you know that the genetic testing doesn't and they're very confusing there's a huge overlap in how they present and their and their disease dysfunction I do have one slide can you just advance one slide there you go actually two um so that's good and I can't read it from here so I'll fake it but this this rebuttal comes to you from one of my patients he was a gentleman who came to us I think he's 78 I can turn around and read it 76 and he had a very long history of systolic and diastolic heart failure what's bolded are all the signs and symptoms that should have been aware to multiple providers for many years multiple er admissions recurrent thoracentesis for pleural effusions he had functional class four symptoms sleeping in a chair his initial EKG had low voltage he had bilateral carpal tunnel syndrome with repairs going back two decades echo showed thick walls and and thick mitral and aortic valve leaflets you didn't see it in that pathology slide I showed you but pathologically amyloid is everywhere it gets on the aortic valve leaflets the mitral valve leaflets it encases the small microvascular arteries which is one of the causes of angina recurrent pleural effusions and here's the the killer so to speak because he had he was a family of six siblings all who had carpal tunnel and were diagnosed with fluid buildup and his youngest sibling oh thank you but his youngest his youngest sibling died last year from fluid in her lungs and then he's one he had five children and one of the daughters who came with him to the appointment turned out that she got tested and has the disease the other four were unwilling to get tested so you know we have some wins but we we don't you know it's not a it's not a grand slam to be sure and so I said to him I said you know isn't it great that we were able to at least find out about your daughter and at least give her perhaps a decade or two or three of earlier intervention which is what I think is you know I think you just said it that we have to treat these patients much earlier the kinds of patients that I saw pathologically there's virtually no hope for them there's some new drugs that are trying to get the amyloid out of the heart which is really what we need but you have to start very early so I said to him wouldn't it have been nice to have this testing for your relatives you know decades ago and he said Dr. Silver we were poor we were black and we were in the southern part of the United States so even if they were giving it away at the local drug store we would not have had access to it and I think that underscores the tremendous disparities that still exist that are barriers to getting things up to the right patients at the right time we should not stop from doing what you're suggesting but I think we have to put those resources resources for now into those approaches well certainly thank you for the fantastic discussion and certainly bringing out the some of the pertinent questions and issues that relate to this this topic of testing so certainly hearing it from the genetics the pure science standpoint as well as from the cardiology which is going into more healthcare and patient management standpoint getting these ideas out into the public out into the out into our realm so that we can try to decide what's best is it's been good you've you've elucidated several things concerning insurability the science of the test certainly the affordability is very important perhaps the impact on healthcare systems and being able to access care once you need it and then certainly the desire and patient interaction I think that that could segue to the next little portion that we have here which is actually a patient who has or a person who has ATTR cardiac amyloidosis and certainly he's had an opportunity to experience issues with screening and understanding testing and it would be nice to get his perspective as well so I'd like to introduce to you a friend of mine Tab Blackshear who can tell you his story and certainly be open for any questions too thank you good afternoon my journey with ATTR amyloidosis started long ago I was thriving in my career and had been active in many sports but one day in 2009 I know the shortness of breath while I was exercising I immediately thought it was a problem with my lungs after a series of lung screenings the doctors came up with nothing through my googling I began researching why I might be experiencing shortness of breath I need to take charge of my health once I started sifting through the information I remember a sense of relief came over me that research led me to a cardiologist multiple tests were done and although this doctor had no answers he did have a recommendation for another cardiologist which led to a heart biopsy to determine what was wrong this entire process took over span of about three years those results were returned with a diagnosis of hereditary ATTR amyloidosis the doctor took the time to explain that the transfer of protein being produced in my liver was being deposited in my heart as amyloid this was causing my heart to harden which led to a heart transplant I also experiencing carpal tunnel syndrome and neuropathy I now want people to realize that they have to first find out what their symptoms mean and to know what HATTR amyloidosis is so they can get screened for it the symptoms are such that the warning signs are hard to identify it's easy to chalk it up and shortness of breath or age or stress to give the gift of an early warning sign through screening something they might not have otherwise would provide them with more information to make an informed decision as to how to develop a path forward to manage this condition thank you we have certainly had a lot of inspirational speakers tonight I think the audience can agree with me on that so there are lots of food for thought for us all lots of important points that have been raised both from a molecular genetic standpoint from a clinical cardiologist standpoint and from a patient perspective I think we can all see the benefits of these being the potential way for the future but also agree that it's not prime time yet so I think one of the things we can draw from a lot of the message today is that it is what we are hoping for to happen in the future to improve the overall care to drop the cost of the medication by picking up many patients who may benefit from it allowing many to be able to enroll in clinical trials and actually preventative medicine which is the best to allow many people to proactively prevent the symptoms and get the care that they need I want to put it out for the audience to also if they have questions we have a lot of intelligent and inspirational speakers here and they will be perhaps happy to also address questions if the audience have questions but I was wondering if there's any comparison of the cost of that compared to the cost of if there isn't screening the delayed diagnosis time and like even in Mr. Blackshear's experience three years of referrals and biopsy to get to that point to just compare how the cost differs with or without screening. We're trying to open to this because we have a very so excellent point I don't think there's and Mark can kind of fill me in as well but I don't think there is data out there comparing the cost from time of symptom onset to diagnosis to then therapy compared to costs for implementing a genetic screening strategy up front because we don't have that genetic screening strategy up front currently so that will be something that we are hopeful to look for in the future and to see if we actually do see savings down the line from a healthcare perspective. Yeah and I agree I don't have any information either but I mean if you look at public health approaches to health problems the greatest impact is when there is a public awareness campaign smoking cessation wearing seat belts cancer screening breast cancer screening it all comes with awareness and that leads to then the institution of dedicated resources to diagnose and treat those patients so you know we have to do it all unfortunately we have restricted resources and so I think it would start you know even with with Tab's comments as I when he told me the delay in getting to a final diagnosis I had a conversation early with Dr. Mayer about how long it's taking even in his patients to get from initial impression to a diagnosis it's just too long and so I don't know if that's answering the question but I think we need to learn more about that. Well I think yeah hi Eric Steadley thanks for this great sort of collection of wisdom and of course like most good conversations like most good conversations more questions end up at the end and we started with right we started with the question of should we screen all black adults for TTR now it's going into health disparity questions and allocation of resource questions and all of this but just a couple perspectives for for screening purposes I don't think in the field of heart failure we really made any traction in education despite the you know valiant efforts of many folks until it until a lot of these beta blocker ace inhibitors ended up popping up on our epic screens forcing us to prescribe that and if we didn't we'd get a report card back from our chairman at the end of the month why these people you discharged were not on ace inhibitors so I agree we could spend a lot of time educating getting awareness about carpal tunnel about spinal stenosis etc etc you know lvh on all of the stuff we already know about in this room but until it's forced into an algorithm that pushes it to the clinicians where they have to click you know we talk about ai I'm looking for some n i I don't know natural intelligence I'm not so sure just just a reflex and maybe and so I guess I'm even sort of contemplating I wonder if we because it really is a math problem right it's it's what percentage are we where to where do our values lie and what at what cost do we want to detect disease it's a values question right do we want to detect it at you know we want to make it $50,000 per year life gain $200,000 I mean it's a values question so I'm wondering you know if we modeled that for just a health care system and say for every african-american patient that touches the health care system so now not all patients not all people but whether you come to the hospital for anything outpatient carpal tunnel surgery inpatient heart failure exacerbation quote unquote asthma right if you touch the health care system and you're over the age of 18 and you're a self identified black maybe that model works at a math where we can get down to maybe not 3% maybe that's 5% maybe that's 10% so I just think probably we're going to start at our own institutions but and come up with our own ways to sort of build it force it into our system but you know maybe I'm talking too much but I don't necessarily have a question but I'm excited to go back to work and you know sit down with Sonya and draw some of these things out on paper right thank you for the very important reflections and comments hi good evening I'm in the gym one of our residents so I'm very early in my career my question is if we start screening everyone and with the cost of the drug not coming down would it not lead to just lead time bias so that we are yes we will detect a bit more but if you are not able to provide them adequate treatment because that price for drug is true high so is that actually gonna help us reduce the mortality or is it just gonna help us just know that well yes we detected it early but what are we doing with it I totally agree with you and you know I don't think we're just detecting it early and right now the people who come into the healthcare system are ill I mean you know we see very few people who really come and show up for preventative care with these signs and symptoms so you know I don't think that doesn't mean that we shouldn't do it you know it's one of those things if you can if you think of it you should do it and it's very rewarding when you find it but yeah I don't think we're I don't think we're having the biggest impact yet but we will thank you so much and also I would have a you know a point I want to make sure our clinicians are be aware of it it goes back to very interesting in a question what am I resident has when I was a junior faculty back in Texas we used to have two weeks at a time rotation inpatient we had a CICU and interventional cardiologist I was heart failure general cardiologist an EP they would take turn and one of my residents said that how come doctor I made each time you're in rotation we have two amyloidosis by end of these two weeks and I said because the mind was prepared so yeah we see these patients every day as a cardiologist because we are not thinking about it this is the same guy that keeps coming back but I happen to get more curious check some tests and it comes back amyloid and we go from there I'm not seeing more I'm just seeing the same patient but my mind is more prepared so I think you know one of the thing is that is about like we should be aware of it is that yes we can do genetic testing and everything but if your eyes are closed we have so many lab tests we do every day we don't you know how come somebody noticed that someone is hypercalamic although this potassium was always high because nobody looked into it so like just kind of screen over it and you don't just go and overlook it I think that's something that we should be aware and work on our clinicians to be more aware of it is that there are certain disease that comes in with a certain manifestation we should think about amyloidosis and that itself helps us a lot everybody knows about the test PYPSCAM for example it's been overused in my opinion sometimes but we see the same problem but we look a little bit differently than you know we overlook diagnosis I think that was something that I think we need to work on it in our community about more awareness of the clinicians of this disease Holly I agree with you I agree with you completely and you know I want to call out and thank two forces that have been instrumental in really changing the trajectory that we have one is Matt Maurer Matt is one of everybody shaking their head everybody knows Matt Matt was a is a friend of mine and really took an interest in this and really raised the awareness through a series of studies and formulating the Taoist registry and was inspirational for Pfizer for the development of their drug and the rest is all the other pharmaceutical companies that are there's so many new drugs on the horizon that are novel that are overlapping that can be used to help patients and they really have the terrible task of trying to go back to clinicians who ought to know about the signs and symptoms of heart failure of amyloid and are really sort of obscure about it so they're really driving awareness and I appreciate those efforts too and just to add on to what Mark was saying with new drugs on the horizon remember tafomitis was designated as an orphan drug and and and really one of its kind and so that you can't say completely contributed to its cost and and the disparity associated with that but definitely is is part of the reason that we're dealing with such high cost with this medication so with new drugs on the horizon to treat this condition to have more identified patients with this condition should help with costs for future medications as well I think one thing that we've been hearing is that is the way of the future there is a lot of hope especially with the testing volumes that are going up patients are having direct to consumer test access and they're coming to the clinic so there's preventative medicine going increasing awareness also in clinical medicine will lead to increased diagnosis and this may overall help us understand the reasons for incomplete penetrance variable expressivity and also increase patient enrollment in clinical trials well I think it is hoped that this will translate into improved understanding and treatment of amyloidosis is there any other question we should thank our speakers for a wonderful question yeah thank you so much all right well I'd love for everyone to stay in linger over empanadas and and bottled water and I want to thank our speakers again and our moderators and our patient really great to have you all here and please come to our February 3rd CME event Healy River Resort updates and amyloidosis 2024 thank you