Reconciling Opportunities of "Most" Advanced Technologies and Challenges of "Most" Underserved
Good afternoon. My name is Filippo Pintvo and I'm an Associate consultant in the Center for Individalized Medicine and Department of Clincoggenomics. I would like to welcome you to the Center for Individalized Medicine Ground Rounds. The syndrome rounds lecture series is designed to highlight the latest in scientific discovery and innovation and demonstrate how individualized medicine is being translated into practice to meet current and future patient needs. In celebration of the Rare Disease Day this week, it's my pleasure to introduce today's presenter, doctor Durhan Wang Riger. She is the President and CEO of the Canadian Organization for Rare Disease Disorders, immediate past Chair of Rare Disease International, President of Asia Pacific Alliance of Rare Disease Organizations, Treasurer of UN NGO for Rare Diseases, Chair of Patient Advocates Constituency Committee of the International Rare Disease Research Consortium, member of Lancet Commission on Rare Disease, and member of the Editorial Boards of the Patient Patient Centered, Outcomes Research and Rare Diseases and Orphan Drugs Journal, and Global Commission to end the Diagnostic Oddy for Rare Diseases.
In Canada, she is also President and CEO of the Institute for Optimizing Health Outcomes and Chair of the Consumer Advocate Network and Canadian Heart Patient Alliance. She's also co chair of Canada's Rare Disease Drug Strategy Implementation Advisory Group, member of Canada's Raad Disease Network Steering Committee, and Canada's Newborn Screening Advisory Group. Doctor Wong Rger has a PhD in psychology from McNeill University and was professor at the University of Winster in Canada. She's a certified health coach, lecturer, and author of three books and many, many articles.
Today's presentation is called reimagining are, reconciling opportunities of the most advanced technologies and the challenges of the most underserved and undiagnosed persons. With today's presentation, we will be exploring the importance of global collaboration in the rare disease community from family run support networks to virtual specialty clinics and multi country clinical trials. Despite efforts by the UN and WHO through rare disease declarations and resolutions, achieving equity in diagnosis and treatment remains a challenge. Advances in genomics and AI have the potential to improve access, but they also risk widening disparities. This discussion we will highlight why equity matters across all income levels and showcase recommendations and successful practices from around the world.
Throughout today's talk, for those online, please use the Q&A in Zoom to submit your questions. We have plenty of time for Q&A at the end of the session and for those in person, we'll pass a microphone around the room. For those who have not yet claimed CME, the code is rare, RARE or CAPS. With that, please welcome doctor Dhan Wong Rger. So thank you so very much, doctor Pintuveo and it's great to see you virtually. I wish, in fact, I were there with you, but this is probably the best option.
Thank you very much for the opportunity to speak with you right in advance of are disease Day and really hoping that we're able to use this as a bit of a kickoff to what I think is certainly one of the most important issues coming up. Well, two of them combined, actually. One is, of course, the increasing integration of rare diseases and precision medicines, targeted diagnostics.
And also the challenges, I think as doctor Pino Vre indicated, we're getting more and more opportunities with the technology for rare and precision. But the challenges I think we all face are with regard to equity. So I'm going to provide a bit of an introduction and are. I think a lot of it you probably will know, but just to kind of, um, staff is all on the same page. Talk a little bit about what we understand in terms of some of the directions for rear and precision. But also, I'm going to end with some discussions around one of the areas I spent a lot of time in, and that is in the Asia Pacific and also especially in Southeast Asia.
In fact, I was just saying right before I just came back from Singapore last week and it was about 29-36 degrees there, so a little bit different than what I walked home into. With that, I'm going to share my screen and hopefully I will be able to get started. Hopefully that works for everybody. I call it reimagining re because I think we are at a very interesting time. I know we always talk about being at inflection points, we're looking at paradigm chips, but I think increasingly we're looking at great opportunities, as I say, but also tremendous challenges and not so short how do we bridge the gap if at all.
I think this is what we live in the rare disease world, I believe, and that is is something very unique about rare that is, of course, common across all of these rare diseases, and that is the fact that because they are rare, there's oftentimes lack of knowledge and lack of information, but also a lack of inclusion, whether it's in society, due to culture and stigma, also due to the health policies that may not necessarily be set up to deal with very small patient populations. Certainly a real challenge in terms of the lack of policy and even where there are good access in many cases. Without comprehensive policies and integrated care, we have huge disparities.
I think increasingly though as we talk about rare, we're talking about global and it needs to be global in part because of the small numbers, but we're also then talking about moving from countries with high technology, high income to where rare diseases certainly are prevalent but really have very little access because of both economic, other kinds of services, and barriers and challenges. Really, what I feel important and rare is that it really tests us in terms of what we can do in terms of advances with technology, but can we bring along then those that are going to be less the least capable of taking part This is a slide that I like and we did a rare disease international. Again, I think what makes a rare difference and certainly different when we talk about it from precision targeted diagnoses with more common diseases and that in many cases of rare diseases, it starts with people not knowing that they've got a rare condition of rare disease and oftentimes what we call that long diagnostic odyssey to get to a diagnosis. Oftentimes having many encounters with emergencies, with health care professionals, with other kinds of professionals. Oftentimes, I think as the literature has shown us and our experience has shown us, getting anywhere 1-12 misdiagnosis and seeing scores of health care professionals before we get to a diagnosis. Oftentimes, even when getting into a diagnosis then having no real clear pathway to getting good care support or to getting to treatments even when they are available.
This is, of course, I think, quite unique to rare diseases. Many other conditions, of course, have these challenges. But for are, of course, there are so many more barriers and obstacles due to the lack of numbers, due to the lack of awareness, due to the lack of research, due to the lack of dedicated care and support. So I think the numbers in terms of how many rare disease are seems to increase.
It could be o to 10,000 rare diseases, depending on how you want to count what is a rare disease. Certainly, we know that most of them are genetic. Important thing to recognize is now, thanks to and we'll talk a little bit more about the Orphan Drug Act, we've got more than 880 orphan drug approvals.
I think as we said before the Orphan Drug Act in the US, there was probably only ten new therapies in the decade previous to it. Most of them are pediatric. Important thing is this is why we say increasingly common and increasingly rare. We're getting more and more rare diseases, so that's more common. But many of the rare diseases we're now diagnosing having a very small point prevalence.
Almost 85% of them or what we would say are fewer than one in 1 million. In many cases, diseases that we call in once that there may be only one patient, one family to identify. Though I think as we start to probe deeper ant genomics that we're using become more sophisticated, what we're finding that maybe some of these ultra rare and seemingly isolated cases maybe are not so ultra ultra rare or so isolated.
We just aren't looking in the right places. We aren't doing the things that we need to be able to do to identify some of these patients. But really could be up to 300 million, we say easily 450 million people that are affected by rare diseases worldwide. This is just a little slide I put together just to illustrate, I think, what the landscape is that I think we're dealing with.
On the upper left hand side, we're talking about common diseases, high prevalence, infectious and chronic diseases and there you see some of the most common with them hyperlipidemia, in fact, high blood pressure affecting more than 40% of people and things like them, high cholesterol affecting 12, 15% of people in diabetes as well. On the bottom left, of course, are what we're talking about in some of our rare diseases, even the most common rare diseases affecting a still very, very small patient population, one in 4,000, one in 5,000. On the upper right, we're talking about many conditions that we're talking about are absolutely complex, multi factorial, multi systemic impact, and again, more common conditions, but the manifestation can be quite different across individuals. What we're getting now, of course, with many of these complex conditions is the ability to actually be to identify very precise targeted patient populations, at least from a genetic genomic point of view.
Within what was previously seen as a common condition and even common conditions and cancers are showing us that way. What look like when we look at the topography of it, a very unique condition is, in fact, when we start to look at the underlying causes of it, especially genomically, the same cause can actually be manifest in many different kinds of cancer. Whether we're defining a diseases of breast cancer may not be as meaningful as what is the underlying genetic mutation that is causing the kinds of tumors that the patient may be experiencing. Of course, the treatment of a protocol for that based on the actual genomics as opposed to where it's located.
This is just for me an interesting way of thinking about how we're trying to move through what is this mixed landscape of rare and precision precise diseases. So as we say, common diseases are now becoming increasingly rare mutations. I was actually quite surprised just digging into the research a little bit in terms of how many genomic variations there is. I actually didn't quite believe it the first time I saw 100,000 genome mutations across various types of cancers. Really? 5,000 genetic variations for different types of cardiovascular diseases, cardioarterial deficiencies, hypocenemia, cardiomyopathy, Then of course, with those diseases that we think of very common, we know that there are many types of them. But when we start to look at the genetics, my daughter in law has type one diabetes, many variations of it and now we're looking at being able to do things around gene therapy for some of those if we can identify them precisely.
The neurodegenerative, I think is going to be the biggest area that we're going to be able to make some advances. Now we're beginning to understand how can we treat some of these diseases that we used to think about as one disease? Well, we didn't really think about them as one disease. We knew there were many many variations of them. We just didn't know how to identify them. 20 genetic mutations for Alzheimer's, my gosh, with maybe 200 genes that can influence. My husband has Parkinson's and we know that there have been no really good treatments, all symptom management, and in part because we thought we always um, looked at Parkinson's as a disease, even though we knew it wasn't, it was mostly a disease by exception and now beginning to understand what are some of the genetic mutations in there, and then began to really target then, some of the therapies around specific mutations.
This is, I think, making, as I say, some of the biggest breakthroughs that we're going to see in terms of medicines, where we've got common conditions that are really not going to become, for all intents and purposes, rare diseases. This is what the excitement is, I think for many of us, is the fact that we now can do genome specific diagnostics. These are some of the cancer diagnostics that you're looking at, not just single gene tests, which were the beginnings and we looked at in terms of breasts or we're looking at in terms of lung cancers, melanoas. But now we've got multi gene panels that are allowing us to test across different kinds of tumors and especially now going into solid tumors beyond the blood tumors, and then very biomarker specific tests. This is really helping us to be able to really zero in on the causes of these diseases. Really, again, as I said, the goal is to actually have treatments that are matched to these targeted diagnostics.
Very exciting as well. What we're doing obviously in the rare disease place is increasingly, many of these targeted cancer mutations are coming to us as well for help in terms of being able to identify patients, work with the patient groups, do the kinds of submissions that are necessary in terms of raising awareness of and the overlap now we're finding between what are common conditions and rare conditions is huge. I'm doing so much more, for instance, with regard to kidney diseases, liver diseases, and certainly with regard to some of the blood conditions that are really much more crossing over between common and rare conditions. It's very exciting. And I
think for many of us, you know, we're really looking at a future where we're going to be able to precisely diagnose conditions and we're going to be able to precisely treat them. The challenge, of course, is that the you know, how do we actually going to manage them in terms of our healthcare ecosystem beyond just the access to them? I'm going to take a step back and just talk a little bit about that health care ecosystem. I think as we know, orphan drug legislation is certainly not just starting in the US, was a huge step forward in terms of our being able to provide incentives for developing therapies are rare conditions.
And two biggest areas, of course, is in terms of two biggest countries are US and Europe is not a country, but the European Union. As we can see, there have been so many approved treatments that have come out of these orphan drug legislation, orphan drug acts to the point where we have actually more than 1,000 approved for disease drugs in the US, but about 880 of them are unique. Then we've got, you know, Now, the inclusion of other types of innovative technologies which are helping us to accelerate diagnosis and treatment and even going into prevention. Gene based diagnosis as we just talked about, newborn screening that's moving beyond genetic testing, genome sequencing with some countries actually or some cities as well, jurisdictions are looking at genome sequencing for newborns, newborn genome sequencing and the ability to bring in precise therapies on that end. The other excitement for many, of course, is the technologies in terms of digital health and wearables. This actually becomes a huge part when we talk about some of these precise therapies because the ability to monitor the impact in patients is hugely advanced by the ability to have ongoing patient information being submitted through these digital technologies.
Again, my daughter in law has type one diabetes and where is the diabetes monitor? The information that is actually collected and able to be transmitted is unbelievable in terms of really keeping very much up to date in terms of how well you know, her treatments are working, but also kind of where her overall status is. So we're really entering into some amazing realms with these technologies. I The financing is both a huge opportunity, of course, a huge challenge.
I think certainly the technologies, the advances we're seeing, the ability to really precisely treat conditions, precisely diagnose them, really fueling a lot of investment, which makes great sense. Also, as we know, really challenging payers patient health care system, whether they're wealthier or whether they're really already underwater in terms of financing. The costs in terms of new technologies are tremendous costs in terms of new drugs are tremendous cost in terms of new testing is tremendous.
This is this a little bit of, you know, a, paradox where we've got increasingly more and more effective technologies and increasing challenge in terms of the ability to pay for them, even the best of circumstances. What we do know is that at a global level, rare diseases are taking on a tremendous profile, and this is really, I think, part of what we've been doing a rare diseases international to really raise and include rare diseases in some of the global policy platforms, universal health coverage. Olation on rare diseases and now moving towards a WHO global network and a WHO resolution. Working more globally in order to be able to adequately address these diseases that are really represented across the globe, but in very small numbers in any specific country and even in specific regions. We know that great deal more regulation needs to be coordinated and that is not only just in terms of the regulations for clinical trials and development, but also regulations in terms of approval, regulations actually moving across in terms of the approvals for reimbursement. We're seeing certainly across Europe more consolidation in terms of the health technology assessment, looking at how well they work, what are the returns and investments for them.
And we're also looking at most importantly, increasingly coordination in terms of data and the ability to collect data not just for the front end in terms of developing in the research, but as importantly the collection of real world data, how well are these treatments working in real life? What is it we're seeing in the long term from patients and increasingly focus on the ability to collect that information and to be able to bring it together to actually meaningfully analyze it and to then be able to Put it back into ongoing research, ongoing development, and ongoing more precision in terms of the guidelines for treatment. This is, of course, I think, something that we're all dealing with in the same way as we're having real challenges around privacy of data and the ability to make sure that we can protect people in terms of their individual data. We're also having hugely more needs for that data to be able to be shared. Um, this leads us into talking about the kinds of data registries and the ability to use these data registries to be fuel, I guess, and information for artificial intelligence, which is, of course, that big game changer in terms of how we're going to be doing the research, how we understand diseases, how we're going to be able to make sense of how well the treatments are working in a real world environment and be able to help both practitioners but patients themselves to be able to access better knowledge in terms of getting much more accurate, not just diagnosis, but more targeted treatments. The other last thing I want to talk about is where the space I live a lot in, and that is, of course, in the patient community. What we're seeing, of course, is patients themselves.
Who were the drivers even around the orphan drug legislation in the US and in Europe, huge factor in terms of getting that legislation in place and also bringing together patients from across many diseases. We're now much more organized globally, with Rare Disease International, which is celebrating its, I think, tenth anniversary this year, I South American Latin American alliances, which have been coming together to bring together countries in Latin America and also coordinating some with the Spanish Portuguese speaking countries in Europe, our Asia Pacific Alliance, are Disease Organizations, which I am now president of and trying to bring together countries across Southeast Asia, Asia itself, and also Pacific and Australia, New Zealand, and the Africa Rare Disease Alliance, which is still having a lot of Challengs in terms of coordination and really working together, but a lot of people working behind the scenes are working individually in partnerships trying to forge better collaborations across Africa. The last thing I want to put in this category, I think as we all know, is that a lot of the research now is actually being driven by patient consortiums and I can't overemphasize how important this has been, both in terms of coordinating patients, in terms of collecting the data and having them available in terms of collaborating with researchers, academic institutions, in companies, but also making decisions about where the direction of that research are to go, which projects are going to be advanced, especially in some of these conditions where we see a lot of trials taking place.
We're getting even more opportunities to think about how do we drive it. Then of course, we have patient groups that are themselves leading the research and funding the research and actually coordinating the research. A great deal more that's happening in terms of patient consortiums.
Again, many of them, not just in the country and not just regional but really having global outreach. So this is one of the things I just want to talk about and I know that we mentioned it briefly. For me, of course, one of the most exciting areas that we're moving into is the use of AI. I just wanted to focus on diagnostics for a moment because it is, in fact, so very important when we think about what we're doing in rare diseases or in precision medicines in precisely identified diseases, and that is to be able to get the diagnostics. I one of the reasons I was very excited, we're involved in no projects, some of the projects I've given you here are some of the ones that I'm personally connected with is the challenge we have in terms of funding patients. Speaking with some of the companies we have that are bringing in these highly innovative therapies, some of them for very rare and almost ultra rare conditions.
My question oftentimes to them is, how many patients do you think we have that are affected by this condition and some of this is Canada here. How many of those patients do you think you have that you have been able to identify to bring into getting access to therapies? The answer I get oftentimes is really dismaying. Well, we've got 15% of whom we think are patients that are out there, maybe up to 40%.
The challenge was we can't diagnose them, we can't find them, we can't identify them. In part because many of them have been undiagnosed or misdiagnosed, they're in the health care system and they're actually showing up, but they're often showing up in emergency rooms, and this is for children. I hear over and over again from our children's hospital, 90% of my kids that are in my emergency room are kids with undiagnosed conditions. I've got kids and adults as well that are in critical care beds that are being treated for symptoms, which seems to be ordinary kind of conditions. Well, I shouldn't say ordinary, but they are conditions.
One of the diseases, for instance, that we're working with, we had a therapy for. One of the symptoms essentially kidney stones. The problem is the patients are getting treated for kidney stones.
And nobody's actually taking the next step to say, geez, maybe there's something else going on and especially if you see a patient with kidney stones coming in on a regular basis. The challenge is trying to identify some of these patients for whom we do have treatments and who are not getting diagnosed or not getting diagnosed early enough and not getting diagnosed until they're quite symptomatic and even then sometimes not getting diagnosed at all. I'm very excited by our partnerships with some of these AI companies that are actually bringing in amazing diagnosis. Cure Health is a group in Canada who's now partnered with Health Well, and I've been doing diagnosis going into the medical records, but also making their screens available to health care practitioners, primary care practitioners, and helping to, as I say, they've now helped identify 43,000 high risk patients across eight clinical specialties, utilizing 132 disease specific algorithms. Here's an algorithm.
Here are patients who are potentially high risk for certain kinds of diseases, either making them available to physicians or actually going into the medical records themselves. Metal scan is Mendel Scan is one of the companies in the UK who might have come into contact with an amazing what they've been able to do, especially in a country like the UK where the National Health Services actually has patient data records and they can actually go into them, identify patient at high risk, be able to go back to clinicians and say, we've identified patients. Are you able interested in terms of receiving that information? Potentially contacting patients, you know, allowing them to actually be further tested to see if in fact they may indeed have a condition or be at risk for this condition. So this is, I think, very important work that we're able to do in terms of identifying people sometimes before they become symptomatic or seriously symptomatic or identifying them to link them to, you know, available preventive therapies.
Svantk is a company that is based in Warsaw in Poland, and right now in Canada and are using AI algorithm for 50 rare diseases, going again into specific clinics to identify potential patients. Geno Tips is actually a Canadian based company, which I think has been amazing, now has a platform in 60 countries. What they've been able to do is to integrate electronic health records actually go beyond just the genetics and genomics, but actually be able to include phenotype data to actually come up with disease profiles. Again, being able to go into this record, identify patients with these profiles and flagging potentially patients and especially high risk patients for specific rare conditions.
Think Career is a new initiative that I'm really excited about. It's again based in Ottawa with our Children's Hospital, Eastern Ontario, which has been a real pioneer under doctor Kim Boycott for advancing using genomics to identify patients with unidentified diseases, highly symptomatic. Being able to identify a large number of these patients and give them a diagnosis to help understand what is causing the symptoms or what might be a bit of a prediction in terms of what prognosis might be, even if there's no specific treatment and certainly not a cure for them. We're really excited about this new initiative that is taking place. Again, being able to hopefully spread it beyond the few clinks that we've got and I love the face to face gene because what they're doing is going back to some very basics to say, Well, some of it, we don't really need genetics in generals.
We can actually identify a lot of near disease patients based on phenotype, based on symptoms alone, and certainly facial recognition in terms of potential indications of disease. All of this, I think is a huge opening for us to be able to Not necessarily, well, yes, in some cases, identifying new identified diseases and creating new genetic genomic profiles and new phenotyp profiles, but also as importantly, finding those patients who are living with experiencing challenges with diseases that will allow them to actually be able to step forth. We also saw some amazing tools that are also available to patients and families themselves. The Orphan had has something that we saw at the Word Orphan Drug Congress in Barcelona last year.
Again, with some cautions, obviously, I know in Brazil, Customers with rules, using some very advanced again technology to be able to better identify and to better characterize rare disease patients. So this is, you know, just the beginning. I think it will be an amazing advancement in terms of being available.
Again, available in a lot of environments, though it will be important to see how affordable it is across many environments. Um, this is what I wanted to move to quite quickly and you want to run out of time here, though, is what we really talk about though in what the WHO resolution that we're putting forth talks about is as we know, with the UN Declaration on rare diseases, one of the important things and it was to recognize that rare diseases is, of course, not just a clinical condition. It's not a medical condition, it's not just a genetic genomic condition.
It is in fact a multi system condition. It's one that's also not multi factorial. It affects people both in terms of clinical and it affects people in terms of social and affects people in terms of occupation, family capacity. It also affects people in terms of their mental health. This is a a chart that we developed in a research project we're doing through the International Research Consortium on rare diseases that I'm actually leading, starting with the literature search, but then really analyzing the research data to try to identify, at the end of the day, what we wanted to talk about was what's the impact of getting a diagnosis or getting access to treatment on patients or not and creating from the research that we've done a bit of a visual to look at how is it what is it that you know, creates the kind of impacts and recognizing that we f health system, you know, inputs.
So this is what we're looking at here, that they have an impact in terms of what patients and families receive by way of services, and this then has an impact in terms of what that lived experience is. So the literature we've looked at, we've now organized to identify the fact that there are probably three key domains that we can look at in terms of how the health system, you know, works, what the patients receive, and then what happens at the end. I won't go into deep detail here, but it is a paper that we're hopefully going to finish up in the next month or so and be able to put out there for really some review. Recognizing that awareness, um, access to healthcare professionals who can recognize the disease and also get referred to specialists on that left hand column and then getting access to the right kind of therapy and ongoing monitoring has obviously a real influence in terms of how well the patients are doing clinically, how well they're doing in terms of being able to, get access to the right kinds of support.
Then also then that has a huge impact in terms of what their clinical outcomes are. But as importantly, as we say, rare diseases as well as any disease is not just a clinical manifestation, but it also has a huge impact in terms of people's social lives. That means that the care coordination, integration, especially for rare diseases which are oftentimes multi systemic and requiring integration of many different types of care, the ability to get that care in the community, also have the right kinds of social and financial support. This has a real impact on how well people are able to continue in their lives in terms of their family relationships, going to school, being able to get access to the right kinds of you know, maybe training, disability support in order for them to function in real world settings and to be able to not only care for themselves with their families, to become meaningful members of society, which is what we're looking at in terms of what the overall most desirable outcome is, and then recognizes that in many cases, as with all diseases, rare diseases has a huge impact in terms of people's mental health and well being. This is probably the area where we do the least in terms of good dedicated kinds of resources.
So just recognizing that this is just a different graphic around the same thing that shows you know, again, that these are interrelated. I don't want to overdo it. However, and this goes back to my theme of talking about, can we ever get to equity, is that is economics the primary determinant of whether or not health outcomes accrue to a country, to a society, community, but also in individuals. I think this is something that you know, is really not to be under, I think, recognized, and it does cause a lot to live with a disease and increasingly causes him even more now as we're talking about the opportunities to live with a rare disease or a disease in which there's a great deal of opportunities from the point of view of technology.
So, and of course, requiring in many cases, a huge investment in terms of public health. This just is a visual diagram of all the different kinds of factors from the research that suggested determinants in terms of health care access. At the end of the day, what we do know, of course, is that, health systems and the economic factors play the biggest role for about 50% of it.
There's a lot else involved, including culture, including policy, including the awareness and advocacy and the level of science and technology of that society. A lot of it is beyond the economics, but certainly a great deal of health system and economics still drive the ability for people to get access to the best health care. This is just a quick slide to look at how funding for health care goes along with the National income index. But Not entirely. In some respects,
what we see is health related outcomes are not necessarily tied to how much money you're spending in healthcare expenditures. I think the US is a very good example of that. Switzerland is a good example of that. The only outlier I see in here, which is interesting sample. This is just a quick slide to talk about clinical trials. I've used it in other kinds of environments really from the point of view of encouraging more engagement clinical trials in areas that are not just North America, not just eastern, Northern Europe and the need to actually increase the diversification of clinical trials in part because we need to diversification, but also in terms of making well rounded clinical trials.
But also because investment in clinical trials is so important for a country, so important for a region. In order for it to have increasing investments in terms of monies, in terms of new technologies, it also provides an opportunity for health care professionals and patients to get access to this new technology. I'm going to talk about this a little bit later, but it goes along with the whole issue around inequities and disparities. This is just a brief slide to look at newborn screening, which is of course a key component in terms of diagnosis for rare diseases.
It only shows that in many cases, of course, your higher income countries tend to have more investment in newborn screening. But to me, there's some really interesting not so much expected. If you look at Italy has the most investment in terms of newborn testing, United States, second that, but you have countries like Turkey, Poland, Costa Rica, Chile. Philippines is a huge investment in terms of newborn screening. This is actually quite interesting and much more so than many of the much more developed countries, for instance, France. You might have thought it would be a huge investment, especially with their rare diseases, but in fact, they're not a big investment in terms of newborn screening, which is probably one of the easiest routes to diagnosing rare diseases.
Easiest routes to prevention in terms of rare diseases, but very uneven across the globe in terms of the investment in newborn screening in a number of conditions that are identified and then the follow up in terms of those conditions. I don't want to belabor this, but again, bring it back to the fact that, of course, rare diseases is a global phenomenon, and we recognized this early on with rare diseases international pushed to have when the first political declaration of universal health coverage was being passed in by the United Nations push to have rare diseases identified as a unique disadvantaged group, feeling that if we did not have it so that in fact, even if universal health coverage was coming in, rare diseases were going to be left out. We're able to not only successfully do that, but had it repeated in the 2023 renewal of that UN declaration, But beyond that, then we have the UN resolution on rare diseases, which we also had passed in 2021, pushing us toward this year, which we're hoping to have passed WHO resolution on rare diseases, which is actually much more important than the UN because the WHO resolution really calls upon member states countries to engage in activities and to be accountable for the activities. The four big pillars we talked about here are set objectives. Have accountability for what it is that they're setting out to do, committing to do, report on those achievements, have a budget that's dedicated to rare diseases, and then have guidelines and principles that would actually informed how not only monies would be spent, but also the implementation of different initiatives, including implementation around empowering people living with rare diseases to participate.
This is something that is right now just passed the executive committee of the WHO. Hopefully in May, we would see a resolution on rare diseases, even in this very challenging times. This is just to identify the different aspects of rare diseases that are included in there. I just wanted to put this up very quickly because it helps me segue to what I want to focus on very, very quickly in the next 5 minutes or so, and that is the challenges in terms of the investments in rare diseases globally. One of the areas, I think, as I mentioned earlier, that I'm very much involved in is Asia Pacific.
Again, 60% of the people living with rare diseases are in that Asia Pacific area, and yet obviously they don't have 60% of the investment, 60% of the resources. I'm not going to go through this in detail, but I really want to leave it with you to really know that across Asia Pacific, to me, it's a lovely microcosm in terms of what the world is like because you have some of the wealthiest, most well advanced countries in rare diseases in this area, but you also have some of the most challenged and you also have very uneven investment in rare diseases. Just because the country is doing something in one aspect of rare disease does not mean they're doing something right across the board.
One of the things we do look at and is a definition of rare diseases, we can see vary which I don't get too much hung up on. The fact whether we have a single definition or not is not too important. I see question of whether or not there are National plans for rare diseases. Is the company itself investing in rare diseases? Are we actually putting in the resources that we can have access to treatment that we will have specialty hospitals and that we're creating pathways for diagnosis and for registering patients? Again, I'm not going to go into detail here, but just to say that even across the Asia Pacific region, we see huge variations in terms of what the investment is and how it's being done, and in fact, the kinds of outcomes you're getting.
We're hoping to push forward at the end of this year, we'll have our Nation Pacific Conference in November, building on the six, seven years that we have been holding conferences there to try to come up with a regional plan for rare diseases, to engage countries to collaborate with each other to share resources and also really be able to hopefully share some of the burden in terms of the work around rare diseases, but also best practices there. As you can see, we've got some countries that have done a great deal investments in genetics and genomics, others that have done more investments around being able to provide some form of centers of excellence. But again, it varies.
I think this is what we also want to do is encourage the facilitation development of centers of excellence across the region and some of them that are doing a great job in doing it virtually, but also like in China, you've got key hospitals in the different regions in Beijing and Sichuan. But, you know, the outreach they have goes far beyond the hospital itself because of their use of telehealth and telemedicine to be able to do the outreach. This is, I think, what we're looking at some of the models in terms of where this is happening. Japan has a national center, but they also have outlying hospitals. Some of the countries that are doing really well, I think, South Korea, for instance, has a soul is their national center, but they have 11 regional hubs again connecting with them and being able to serve patients that are not just at the center connected to the center hospital. This is where we see some of the real opportunities to be able to share some of that best practices.
The same thing in terms of data, in terms of registries, and what are the kinds of registries that different countries are putting together? Is there an opportunity to share in those practices? We're not really trying to talk about how we can share data across countries yet, but at least be able to share practices that will allow us to do a better job of collecting within each one of the countries or states themselves. I my money, to be honest with you, the country that does the best job in terms of rare diseases is Taiwan. Taiwan has always been a leader and in part because they have a very strong Taiwan are disease Foundation, which has helped to push and promote this. But also they have very early on a Rare Disease Act, they have a real registry for rare diseases. One of the important things I find for Taiwan is they identify rare diseases, put them into a rare disease list, so they may have only a number of rare diseases. But once you are identified as a condition and your patient living with that condition, you get access to all of the kinds of health and social resources that is available.
This is for me a very comprehensive integrated care that we don't see in many other places. Um, they have reasonable good access to orphan drugs, but they also really do engage with the patient community, which itself also provides some of the social support and the actual training and education. I think this is, if one were to say, okay, give me an example of a country that is doing an amazing job in rare diseases. Look at Taiwan. The other countries I think are a bit more challenging in terms of resources and as you can see in Malaysia. The Philippines, I want to come back to as having one of the best rare diseases, newborn screening programs.
They have invested in it. They have a leading physician who has been doing it and as they tell us clearly, they're doing newborn screening across 9,000 islands. Even during COVID, we're able to continue to do newborn screening, collect them, and be able to continue to provide genetic counseling to these patients even during that time. Malaysia, I'm going to point out as a challenge for all of us because Malaysia is one of the few countries that does not use dry blood spots. They're still using cord blood for newborn screening.
This is a real limit in terms of how many diseases they can actually diagnose. They only currently have two conditions that they are actually diagnoses in Malaysia. Um, and there's a lot of work being done to try to create a greater alliance around newborn screening among the geneticists there to see how we can actually do a better job in terms of the education and awareness.
But they're not the only country. There are other countries in Asia, Southeast Asia, Eastern Asian area that are using and relying on, um, uh, cord blood. This is something that's a huge limitation in terms of the ability to advance in terms of newborn screening.
This I just want to show side by side. I won't go into deep detail. Again, differences across even one region with regard to newborn screening and how many conditions are covered and not only how many conditions, what's the coverage? What's the area, how many families, what percentage of families are you bringing in? Then what are the ways in which you're providing access to medicines? Some of the ones that are most challenging for me is Australia, which actually has a lifesaving drugs program, but they only include 16 drugs conditions.
They've only ever treated 430 patients. It's a real head scratcher when you look at some of the countries in terms of how they're approaching this. Singapore to me is an absolute and I say this to them all the time.
It is absolutely unconscionable. Their inability to actually fund drugs for rare disease being a very wealthy country, very good health care system. But again, rare disease is actually funded out of some kind of a donations program, which means that you have very few patients that actually get access for conditions, seven approved patients. It actually is quite baffling in terms of how they're approaching it and you look at Taiwan instead in terms of their ability to actually cover a large number of patients.
I just wanted to put a force there and look at some of the real differences. Our goal is trying to come up with somewhat of a regional strategy there. When we talk about equity, can we get to equity? When you look at some of this, you have to I really don't know. Are we going to be able to bring people along? I think one of the challenges is to work at where people are improved very much based on the health systems, based on the policy, based on the culture, based on the engagement that you can have there, and to try to get everybody to do more and to do better and to share it. This is my last slide here just to show a glimpse across the regions, the difference in which we're seeing in terms of policy, government funding, diagnosis and treatment, which we say are the bedrocks in terms of improving rare diseases.
And I think with that, I'm probably right on time to say thank you very much and happy to take any questions that people may have. Doctor an Hegar, thank you very much for this inspiring presentation. It was a great overview on what's happening in the disease field worldwide. We do have a couple of questions here, but I think if we have questions in the auditorium, if we can share the microphone with them, And why you do that, I'm going to ask the first one. You have played a key role in strengthening patient advocacy networks worldwide. That's no doubt.
So in your mind, what are the most urgent gaps that patient organizations should focus on today and how can they effectively push for policy changes that would benefit our rare disease community? You know, we push all the time for having a national commitment. A lot of things are bottom up, we see that a country like Brazil is a good example, country where you can have pockets and you've got local people that are able to bring their hospital together and do it. So I think those are important because those are demonstrations in terms of what can be done and how it can be done, especially when you've got leaders and champions, as you very well know there in Argentina, we see the same thing where patient groups are coming together with their clinicians, one of the most amazing ones, network applied clinicians where they're able to receive patients and send them to approve clinicians who can support them.
Those are piecemeal efforts and they're not sustainable. The question we want to get to, how do we get to sustainable change and sustainable access? The only way you can do that is involve governments, you get national policies, and get commitments in terms of funding. It costs money to do it. One of the things we're doing a lot and I didn't show it here, socioeconomic studies to demonstrate though, that the cost of not diagnosing and not treating is also huge.
When 90% of your patients in an emergency room are filled with patients with undiagnosed diseases, we have to think very hard about, you know, What if we were to invest in those? That to me is the most important thing is to be able to get governments to recognize that investment in rare diseases, at the end of the day, not only is good for patients and families, but it's good for communities and it's really good for your health care system. At the end of the day, it actually is good for your budget. That's wonderful. Thank you. F, you mentioned Brazil, someone from the audience and just ask if you have more specific data on Brazil because you didn't share.
Yeah, I didn't do Latin America in this one and only because out of pure economy for me. I'm having to do a talk in Hong Kong tomorrow for refuge day. I was using the same presentation. I do have similar data for the Latin American countries, so probably not as up to date as I would like because as you know, the political and economic situation in Latin America is shifting. So much faster than almost anywhere else in the world that it's really hard to keep up. But yeah, I do have and I want to be able to explore that more because I think it's important also.
We're sharing the information across Asia, Asia Pacific and Southeast Asia to the countries themselves. Last year, we had a workshop in the Philippines. We had six countries that represented with policy leads and we shared it. Here's how you're doing. Here's all countries in your region are doing. What can we do together? What can we do better? I think that will help us in terms of being able to improve the area.
We'd love to do more with Latin America. I think it's very much of a moving target, but we really you know, recognize that some of the best things is happening in terms of rare diseases in Latin America and some of the real challenges and what's really hurting us is we see countries that are going backwards. Great. Thank you. Another question from the audience here.
Can you talk about any cultural or political features that make a country more or less likely to support rare disease research and support? Yeah. Again, I didn't go into other countries, but I would say you have to start with where countries are. In some countries, of course, rare diseases is terrible stigma. I'll give you a quick example and these are non examples, Middle East, where they're really investing big time in rare diseases right now and they're trying to address what they call high rates of rare diseases that are in families and based on the fact they live in tribes, there's a lot of intermarriage. They have a high degree of recessive conditions that actually do manifest and they're trying to get a handle on it by actually doing genetic and genomic testing.
They're trying to help families identify if they're at risk in terms of disease, but they're also pouring money in terms of treating these diseases because they recognize that this is in fact a huge barrier to their being able to advance their health system and being able to advance in terms of culture. But there's a stigma there. As much as the government and health system says, we want to help identify, we want to help you be able to recognize if you may be at risk, families are saying not us, we don't want to be identified because it's all stigma number two.
Folks see a little bit of pushback and saying, I don't know, we're not so sure we want to get rid of this rare disease. It identifies our families. It's a real challenge in terms of the awareness and giving people better options and not putting it as a mark of something wrong. I think this is a real challenge.
It's not as much clinical as it is social and psychological, which I think we have not done as good a job. I'm a psychologist by training and I realized we failed miserably in terms of really having an impact here. Well, thank you. Another question here.
So could you share your thoughts about the challenges at the intersection of AI, the need for sharing of large datasets, and protection of PHI, especially for images in pediatric patients? Yeah, all of this, of course, is a moving field as well, and what we don't want to do is to get the technology ahead of patient understanding and the safeguards. On the other hand, I think we have in many places, including the US, including Canada, including many other countries, we've got rules that are actually barriers and they're out of date. I mean, what the world needs to do is we need to come together and recognize where's AI now? What do we need in terms of large data sets and get some global, I think, agreements around how we want to work in this space. I think we can. The scientists that are involved in it, they already work together, and there's a strong community there. We need to bring along the social scientists, the patients, the clinicians to all come together and to work collaborative there. I don't think everybody needs to, but if we can get a core together in terms of harmonization around principles and guidelines, we see some of it already.
But I think we need to now really double down and say, Hey, let's do this for real because we're going to be hit with the barriers, but I think the worst thing that will happen is we will end up with things like data breaches or we'll have misunderstandings that will put a full stop to things. So let's try to get ahead of that. Wonderful. And we have one last question. I think we have time for that. So you mentioned the implementation of new technologies.
Someone asks, how do you suggest to optimize implementation of some of these diagnostic tools in adulthood with the frontline clinicians typically overwhelmed and has difficulty keeping up with the latest diagnostic testing and the rapid evolution of the field. Part of it will come actually from the nice thing about the world we live in is that the information is out there. I think patients are going to get excited about it. They're going to be pushing, especially some of the digital tools. I think we also need to provide the extra support and time to frontline physicians, healthcare professionals for them to get on board with it.
I think part of it is factor in terms of using it. I think I talked about CR health, the AI technologies that help identify patients that may be at risk. What we've been able to do is introduce it to the frontline physicians, provide them with the tools, and then provide support so that if a patient is identified at risk, you've got somewhere to send that patient. You've got to put all the pieces in place.
But yeah, we've got to make it so that there's a real willingness to as with any other technology, start with the willing, start with the people that can get excited about it and create that moment, but make it so it's truly accessible. I think part of it is also in terms of health systems recognizing, we're going to get more out of it if we do it this way. My real fear though is the technology is moving so fast and we as people, tend to move so much more slowly that, you know, we have to figure out how we're going to do that. And part is the psychology of it all, right? That was a great conclusion.
Doctor Wong, again, thank you very much for joining us today. Your dedication to read disease is just remarkable. We all know that. Thank you. And to all who participated, thank you for joining us today. Let's continue working together and ensure that no red disease patients left behind. I would like to issue all meaningful red disease day. Thank you.
Thank you.
2025-04-12 03:58
