Good afternoon everyone and you're very, very welcome to this hybrid event at the Institute for International and European Affairs in North Great Georgia Street and a very special welcome to those of you who are joining us online. This is the second in a series on the European Health Union in Ireland which is supported by Janssen Science Ireland. The first one we had last November and it focused on the issue of the implications of the European Health Union on Cancer Services in Ireland and today our focus is on rare diseases. The format, let me say a few words about the format. The format will be a presentation by our keynote speaker who is Billy Kelleher, the MEP for Ireland South and that will be followed by seven to ten minutes presentation by our three panelists today. They represent different areas, different perspectives including policy practitioners and patient perspectives. We have Vicky McGrath, CEO at Rare Diseases Ireland, Professor Sean Gaine, consultant respiratory physician at the Matter Hospital in Dublin and Jennifer Lee, therapy area and market access leader at Janssen. After the panel discussion and the presentation we will then have a question and answer session and we would encourage those of you here today in person and those of you online to please put in your questions. Please identify what organization, if any, you are with and give us your names also. The panel discussion and the presentations will be publicly available and are on the record. Please feel free to join the discussion on Twitter using the handle at IIEA and a special welcome to those of you joining us on YouTube today. Now to the substance, I would now formally like to introduce our keynote speaker, Mr Billy Kelleher and hand over to him. Billy Kelleher is an MEP for Ireland South. He was elected in May 2019 and is a member of the Renew Europe Group, the group to which Fianna Foll belongs. Mr Kelleher sits on the Economic and Monetary Affairs and Taxation Committees. He is also an active substitute member of the Committee on the Environment, Public Health and Food Safety, the Subcommittee on Public Health and the Special Committee on the COVID-19 pandemic, Lessons Learned and Recommendations for the Future. Billy Kelleher has been a distinguished member of Shannon Dahl-Aaron and he is a former Minister of State for Labour Affairs and for Trade and Commerce. Over to you. Thank you very much. I hope you can all hear me here. I'm speaking from Brussels, so delighted and first and foremost, thank you very much to the IIEA for their very kind invitation to give this keynote address. The issue of rare diseases and the treatments and supports needed to assist those living with these incredibly challenging illnesses has been high on my political agenda for a long time. In my time as a Fianna Foll health spokesperson for many years, I did my best to keep them on the political agenda and now as an MEP since 2019, I'm advocating strongly for a common EU approach to this particular issue. Last week's publication of the EU's long-awaited pharmaceutical strategy is a milestone for our continent. Outside of the many important pieces of legislation related to the Green Deal, I firmly believe it may be one of the most consequential proposals adopted by the co-legislators in the current Commission mandate. So, we have to get it right. Otherwise, we are on the risk of inhibiting innovation and ultimately the development of crucial medicines and treatments for Europeans and people all over the world. All of us, those in public office and those in the development and production of medicines must accept a number of key facts. One, medicines authorised in the EU do not at present reach patients quickly enough and are not equally accessible in all member states. Two, the significant gap remains in terms of addressing unmet medical needs, rare diseases and antimicrobial resistance. Treat the results in extremely high prices for innovative treatments, putting significant pressure on national governments when making decisions on whether to reimburse medicines or not. Four, in 2022 and into 2023, we have had shortages of medicines in the European Union. We are the wealthiest economic bloc on the planet and we should not have medicine shortages and our citizens expect more and they certainly deserve more. Five, investment in new medicine development will be led by private sector for the main part and this is a crucially important component as well. So we need to ensure that we incentivise investment and that there is capital available for investment as well. The European Union has a total budget of around 165 billion per year and national governments don't have the resources to fund all of the R&D that is essential and needed in these creative areas. So we must ensure that the EU remains the attractive place for investment and a world leader in the development of medicines. The status quo is no longer tenable. Digitisation and the need to meet the climate objectives under the Green Deal require a way of working and yes, we must also cut the red tape and simplify the approval procedures. During the COVID pandemic, I was critical of the duplication in terms of the approval procedures. Being in the EU must mean we trust our colleagues when we assess medicines, treatments and vaccines. So the idea that we have multiple approval mechanisms in place for assessing the efficacy of medicines in my view is red tape, bureaucracy and very lethargic in terms of making assessments. Before I dive deep into the specific topic of rare diseases and the implications the new commission proposal may have, it's important to discuss the overall picture about what is in the pharmaceutical strategy. As you may have seen in the commission's proposals last week, there are four main pillars contained in the draft strategy. Ensuring access to affordable medicines for patients and addressing the unmet medical needs. This is a very important in the areas of antimicrobial resistance and rare diseases and it will require specific proposals and legislation. Supporting competitiveness, innovation and sustainability of the EU's pharmaceutical industry and the development of high quality, safe, effective and greener medicines. Enhancing crisis preparedness, response mechanisms diversified and secure supply chains and addressing the medicines shortages. We saw of course during the COVID pandemic that diversified and protected supply chains are critical. This will also feed into the EU's new policy on open strategic autonomy but we must be careful not to allow ourselves to become overly protectionist as well. We have to get the balance right between strategic autonomy and ensuring that we cooperate with other international partners in terms of trade and innovation and investment as well. Ensuring a strong EU voice in the world by promoting a high level of policy, efficacy and safety standards. This is the one thing in fairness that the EU is exceptionally good at and that's bringing about high benchmark standards for industry or in this case in the areas of medicines. The EU's pharmaceutical industry is a critical component of our economy no more so than Ireland. We are all well aware of the thousands of well-paying jobs located right across Ireland that the pharmaceutical sector underpins. There are over 800,000 jobs directly related in the pharmaceutical sector in the European Union as a whole and while many multiples of this related indirectly in jobs as well. Ireland alone exports 62 billion of medical or pharmaceutical products each year. There is no doubt that the pharma industry helped keep Ireland afloat during the financial downturn of 2008 to 12 and also during the COVID pandemic shutdowns more recently. We must never lose sight of the importance of these industries to our communities, to our citizens and to the broader economy. That's why we need to get the pharma strategy right. There's a fine balance we stroke between ensuring that affordable medicines are available to citizens in a timely manner and also ensuring that pharma companies have the financial capital needed to invest in future medicines and treatments to bring them to market. According to the FDA in the United States of America only about 12% of the drugs entering clinical trial ever end up going on sale in the market. Don't get me wrong I'm not a shrill for a big pharma but I am a realist and a pragmatist. We need a competitive yes profitable pharmaceutical industry if we are to develop the best most innovative effective medicines for our citizens. We also need to end the disparity in terms of medicines becoming available in different countries at different times. Even in Ireland with a thriving pharmaceutical sector we do not have access to the same number of drugs as in other countries. In 2018 to 2019 51 drugs were approved for use and reimbursement in Ireland. Compared that to Germany where there was 104 reimbursed and you can see that there is a very serious disparity between countries. However it is worse in other parts of the European Union when you look at Eastern Europe with only about 20 drugs coming on to the market in Romania for example. So this really is an issue of equity and fairness across the European Union and if we are to confer rights on citizens certainly in the area of access to medicines the reimbursement issue is a fundamental issue in my view and one that has to be addressed and can only be addressed at European level in terms of making available to all citizens regardless of what member states are born in or in terms of financial capacity and societal challenges. With regard to rare diseases for as long as I've been a public representative I've met with representatives of people living with rare diseases in each and every meeting I hear about the same challenge on met medical needs. One rare disease that I've been very proud to work on is the PKU Alliance. I'm currently the chair of the PKU Alliance in European Parliament and organized a fruitful discussion with Commissioner Kirikides about the orphan drug regulation and the wider pharmaceutical strategy late in 2022. It is very clear to me that the commissioner gets the importance of rare diseases and I think it's obvious this issue has been to the forefront and centre in our drafting of the commission's proposal. A present over 7,000 rare diseases including rare forms of cancer have been identified with just one in 20 of them having a treatment option. 69% of people living with rare diseases only receive symptomatic treatment for their conditions. Rare diseases cause untold suffering for people living with them and for those caring for them. Individually the number of people living with a particular rare disease is quite small but cumulatively across the entire European Union there are hundreds of thousands of people desperately in need of EU action to make their lives better. This is an area where the EU has to take lead. Sadly if we leave it to the industry alone they will shy away from the investment because the commercial return and the risk is simply too high and too extreme and the return just not attractive enough. I firmly believe that European Commission is proposing will be welcomed by the rare diseases community in Ireland and across the European Union. Critically they want to see more rapid regulatory pathways for new products and the incentivization of companies to develop desperately needed medicines. The proposed changes in terms of patient protection including extending the maximum protection time if medicines are released in all EU countries within two years is at the outset I believe a good proposal and this goes back to what I said earlier on. We simply cannot have a situation where medicines are fed into the market across the European Union at different times at different times and different intervals. I believe that when they are being made available they must be made available across the entirety of the European Union and I do believe that this issue around patient protection and getting the balance right with regard to releasing them to all member states is a worthy proposal put forward and I believe deserves scrutiny and you know assessment of the impact it will have. A key change being proposed by the Commission is the incorporation of the European Medicines Agency priority medicine schemes prime in the regulatory framework to accelerate product development and authorization in areas of unmet needs. It simply takes too long for many of these drugs to be authorized for use. One space where I feel progress can be made is in the area of rare diseases is the recently proposed European Health Union. Health as most of you will know and be aware is not a core competency of the European Union. So to see concrete proposals around the health union is of seismic importance from a political and societal perspective with regard to the European Union. Now of course I don't believe we will be ever see the Commission running our hospitals but there is so much that can be done at pan-European level to make this attractive. Let's look at the issue in the field of rare diseases that are so vitally important. A baby born in Ireland is tested for nine different diseases our syndromes using a simple inexpensive heel prick test. However if that child is born in Spain they would be tested for 24 diseases or syndromes. Yet in France the test would only look for six of these diseases or syndromes. If you were born in Italy they would test for 35 so we have a lot of work to do. These tests are crucially important in diagnosing of rare life-tracking illnesses. How can we truly know the prevalence of rare diseases if we aren't uniformly testing all our children in all member states on a uniform basis. This is just one example of how we can and must work better at EU level in health. Central to the European health union will be of course the pharmaceutical strategy and associated legislative acts. The establishment of a European health union a set of guidelines principles and rules that all countries agree to implement and uphold across the union. However this will require treaty change and as you all know EU treaty change in Ireland is a very difficult conversation. In two of the last three referenda on the EU the Irish people voted no first and then following clarifications and guarantees agreed to support NISTU and Lisbon two treaties. Irish governments are always hesitant about going to the people on EU treaty change because for most of the time the conversation and the substance of the treaty gets caught up and drowned out by local domestic political issues or scaremongering from anti-EU brigade of which there is enough of in our country. Right now there's a lot of scaremongering campaign going on against the world's health organization pandemic treaty. There is no logic to it but it's part and parcel of modern political life in Ireland regarding these issues. Finally I want to talk about what is not in the commission proposal it is. A lot of people depending on their point of view either support the commission's ideas or have issues with them. We need to remember that this is only the starting point. My colleagues in the European Parliament will amend, add and delete sections of this proposal likewise national governments through the European Council will do the same. So all of us who care passionately about equal access to medicines or people living with rare diseases and a vibrant pharmaceutical sector across the European Union need to keep an eye on what these two bodies are proposing. So once again thank you very much for the opportunity to give my initial thoughts on the pharmaceutical strategy and how it may affect many people living with rare diseases. Very much Billy and I hope you'll be able to stay with us for the Q&A session yeah that's great. Now we come to our first panelist. Our first panelist is Vicky McGraw. Vicky is the Chief Executive Officer at Rare Diseases Ireland, the National Alliance for Rare Disease Patient Organisations in Ireland. Rare Diseases Ireland advocates for people affected by or at risk of developing a rare disease. Vicky came to Rare Diseases Ireland from industry where she spent 20 years in various leadership roles within the life sciences sector in the United States and Ireland. She is a Bachelor of Engineering and Master's in Engineering and an MBA and she is a Fellow of Bio Innovate Ireland. Vicky you have the floor. Very much Mary. Thank you very much for the opportunity to be here today to everybody in the room and to those online. It was great to have an opportunity to speak about rare diseases to such a wide audience. For the avoidance of doubt a rare disease is defined at an EU level, a role that I guess Europe plays in Ireland and it's one in 2,000 people affected by disease. As Billy mentioned there are 7,000 plus rare diseases and there have been more I guess elucidated on a daily basis as research continues. There's about 300,000 people in Ireland living with rare diseases. I think if we reflect on I guess we hear a lot about them in children 4.2% of your average 18 year old cohort have already been diagnosed with a rare disease. So you know it's the impact I guess on Irish society is enormous. I estimate that there's about 50,000 children living with rare diseases and 250,000 adults. In terms of children, I'm like most of them will visit one of the children's hospitals here in Dublin and will receive expert care through that system. Sadly when many transition to adulthood there isn't any expert care available and they literally they face a cliff edge and fall off and it's really terribly difficult for them and that's one of the areas where we really feel that EU is going to help to enhance the care for people living in Ireland. We have obviously the cross-border directive which many people know about and an element of that is the European reference networks and enabling access to expert care for all people living with rare diseases right across Europe and this is the linchpin we feel in rare diseases Ireland to ensure adequate care for people living with rare diseases here. The last survey that we performed around care the health care experiences of people living with rare diseases in Ireland indicated that a little over 30% people felt they had no expert care in the country so these are people that are having to travel to try and get their expert care and the ERNs coming into Ireland are a critical component of that. Of course when we say ERNs coming into Ireland and you will see it in I think probably about 80 to 90% of the press releases over the last 18 months from from the minister and from the department of health if anything references rare diseases it will talk about we have ERNs in Ireland. We have some labels on people's doors nothing has been funded nothing has actively happened and this is where we need groups like the EU parliament and the and the commission to actually force this to force the arms twist the arms and make sure that this is real that there's a real experience for people on the ground to ensure that actually when we talk about sharing knowledge and expertise and research that this is a real experience for people that it's not I guess written on a piece of paper somewhere that this is what happens. It's very frustrating and I know Professor Cain might add some more comments on that but it's incredibly frustrating to realise that the ERNs will answer many questions for both for people living in Ireland with rare diseases but also around the I guess registries and access to information these are you know these are the lynchpins for us but yes we have done nothing to enable real integration of ERNs into Ireland and that is certainly one of the the key things that we will be working on and where we see the role for Europe to be so critical. I understand that from the the DG Sante's perspective rare diseases in Europe this is a really added value for the whole EU in setup around healthcare is in the rare disease space because of the lack of knowledge and information and the need to share cross border and so it's critically important that we really do do some more work around that. There's many pieces I guess of the EU and how the role that it could have in rare diseases and for the rare disease community in Ireland to name a few I'm like we all know the one for work that EMA does that we all had our own regulators you know 20 years ago and now it just happens magically at an EU level. I can't comprehend how we're not heading down a similar route for health technology assessment I know we're beginning to make you know scratch at the surface but we really need to think about where we're going to be in 20 years time we don't have the expertise in this country we're too small a country to have the expertise and the knowledge to be able to do all of this heavy lifting ourselves likewise all of the other small European countries we need to pool our resources and actually enable this to happen on an EU wide basis I really do feel quite strongly about that. I think the NCP so our own HTA assessment body here in Ireland I think they employ something like 40 people give or take you know realistically if we're going to keep up keep pace with what is proposed now in the new EU pharma legislation that everything gets approved within two years we're going to be doubling tripling quadrupling I don't know where we're going to get the health economists to fill all of these roles but you know we've got to think sensibly about this as a country um um the newborn screening of Billy Keller was referring to there um we have nine a tenth has been recommended hasn't been implemented yet the N or not the NCP NSEC the new uh no the national screening advisory committee was established four years ago we have added one test to the helprit test in that four-year period at the HSE so children today versus children and newborns four years ago they have one more rare disease they're being tested for there is a list of I think 33 to 35 rare diseases to be added at this rate we will all be long since gone as will our children and our grandchildren by the time we get through those so you know again we need to look at how can we leverage Europe what can Europe do for us this is a lot of desk work that needs to be done we need the people that are in the country to actually do the physical work that needs to be done in the country and to try and offload as much of this desk work as possible and again it's a no-brainer in my world you know if we can do it with the EMA we've got to look at all of those other areas where there's a lot of desk work um the the pharma legislation I know that's a hot topic uh it's fresh off the presses I know there was a leaked copy uh you know two months ago or something like that but I didn't get into too much detail because I was sure everything would be perfect by the time we got to it last week um but I guess my gut feel now is wow it's complex wow this is not going to be easy to do um I think that it's not really going to help innovation I think it's going to hinder access to medicines and it's an awful thing to say the two-year timeline might make a lot of sense but I just I don't it it doesn't grab me as being yeah this is the way to go this is definitely I think that we're you know potentially beating ourselves up uh over something that we need to be far more agile and innovative in our approach to how this happens I've heard lots of talk about the cars and stick I I see quite a bit of stick not a huge amount of cars I'm particularly gold by the concept that things must be approved within two years of email approval or or be be reimbursed within two years of email approval um for for drugs but if it's a rare disease drug one day or sorry then you get two years extra uh patent protection but with a rare disease you only get one year extra it's going well that's completely counterproductive if there's only one or two patients why would you you know and it just strikes me as being slightly retrograde which is maybe a harsh way to put it we as a group will try our hardest to to I guess get our heads around what the legislation actually means and certainly to to make submissions and to to to get a rare disease voice into this and I guess we'd really be looking for the people in the room the people online to help us as a group and also just you know Ireland Ireland needs to step up to the plate where we're very good at waiting to see what everybody else is saying and doing we need to be leading on this we know we have the install base of pharma manufacturing we have a really good r&d the sfi all of those kind of r&d systems we have great access to what's happening in the states many of our consultants have been trained over there and have come back here so you know we know we could think really cleverly and we have a really I guess lots of people are very interested in our view of the world I think we have a good way with people and we need to leverage that to the advantage of the rare disease community in Ireland and I really do feel that if we can do it to the advantage of the rare disease community in Ireland it will be to the advantage of everybody in this room all of the stakeholders and to the rest of Europe it terrifies me the concept that you know only 12 percent of trials are even ever going to get to market and that I know is the magic of science and things like that but even when things do get to market and still we're waiting years and years and you have patients standing on Kildare Street it's unconscionable that we allow that to happen and I think that the EU is is a tool for us to leverage as a country to the benefit of us to enable us to get quicker access and to innovate further right across the health system I have an old boss of mine used to always talk about the three biggest challenges in any business communication communication communication and that's what this is the magic of science is delivering products it's about the communication it's about how we're transferring information sharing information and moving forward rather than saying we can't do this we need to do something very different and I think that Europe should be a resource that we leverage to enable us to do something very different thank you very much Vicki and thank you for your passion you brought to that as well as your insight so I'm now on the floor to our second panelist professor Sean Gain professor Sean Gain is a consultant respiratory physician at the matter hospital in Dublin and a director of the national pulmonary hypertension unit he completed his medical education at Trinity College Dublin and at Johns Hopkins hospital in Baltimore during his pulmonary and critical care fellowship he obtained his PhD for work exploring the controller pulmonary vascular function the floor is yours thank you and thank you for your passion Vicki on the topic of rare diseases yeah so I just I'll give you a bit of a perspective of what it's like to care for people with rare disease and I spent over a decade in the US and Johns Hopkins and set up a pulmonary hypertension program there was a fascinating time because when I started there was no treatment for a particular disease that affects people called pulmonary hypertension and pulmonary hypertension typically at that time was a disease that affected young women usually in the mid 20s and they would come in increasingly breathless and would die within two years and the job of something in that disease area was to comfort and manage in a palliative way at young women who often just had a baby and that was a trigger for the disease to occur it's a remarkable story the first thing that came about that helped those patients was heart lung transplant in fact the first person in the world have a heart lung transplant successfully was a young lady with with pulmonary hypertension she wrote a book and the book I always think is very interesting that the title was I'll take tomorrow and and that's I think the the situation for so many of our patients who have rare diseases I'll take tomorrow give me give me what you've got it may be a new drug there may be side effects there may be issues with it but can I just have one more day and that was what she went through to have a heart lung transplant it was successful in the short term not in the longer term the rest of the story is remarkable also in that it's a remarkable success for her pharma and when I started there were no drugs for pulmonary hypertension there are now three products that are available life expectancies no longer two years and I'll give you an example that I lost a lady last year I'd managed her for 17 years she presented to me after delivering her second child and her wish at the time was to see that child grow up to some stage what first of all it was to get to first communion then it was got confirmation then it was to get to 18 and ultimately she saw her get to 18 and then she died she couldn't get transplanted because ultimately she was small frame she got very sick transplant turned her down ultimately she'd been on the list for five years waiting for a lung transplant and but the reason I bring up her story she was on those three or she lasted seven years she got to do the things that she wanted to do was a pleasure taking care of her but and she had the three drugs available each of those three drugs that were available were available fast for her in Ireland at that time but it's changed now but at the time I was able to get those drugs quickly for a get-around bore and have her live a reasonable quality of life until the end and almost as soon as she died another 21 year old arrived in and I thought to myself what's different about what's going to happen for her now and what's changed in me then first of all I'm not looking her to die in two years I'm expecting her to live longer and my biggest worry for her now is that there are new therapies coming down the pipeline she knows about them because she's on the internet she's yeah it's a different generation 17 18 years later and she knows what's coming she knows for example like most that there was a new England journal paper last month showing a new drug for pulmonary hypertension and there's a lot of excitement about it but she also knows from talking to people online that Ireland is one of the slowest countries in Europe to get that drug for her she won't see it for maybe three four years even if she does and as a result of that we've we're starting her on an intravenous infusion therapy which is very cumbersome it's very expensive it's all we've got to get her that extra mile so the therapeutic options that we'll have available for her for the next number of years are going to be somewhat limited and I think that that timeline is way too long as Vicki points out and then and as Lily Keller has pointed out it's it's way too long and the fact that I'll be slower than my colleagues in France and Spain and Italy when I meet them at international meetings and I have my patient who's on what would be considered old-school approach at that stage I think is it's very difficult and I shouldn't be that way just a bit a bit of news on that too so we were really excited when there was a big push to get pulmonary hypertension into the ERN rare lung disease and we were very excited about that because I would share what Vicki said and what Billy has said that Europe is has a great potential to be able to push things forward here set set bound set guidelines and I mentioned the big stick in some ways but Bill say look and you need to deliver these things quickly so an unusual event in an Irish healthcare story a number of Irish hospitals got together so the St. Vincent's University Hospital the Mar hospital and Beaumont hospital got together under the Irish thoracic site but a consortium of rare lung diseases and made an application to get into cover cystic fibrosis to cover alpha 180 trips and to cover pulmonary hypertension to cover rejection for lung transplant institutional lung disease and we all came together and put our expertise together and were successful in the application to join the ERN rare lung diseases and the real reason we were most excited about that was we thought then that because of our European backing we then would get funded to be able to lift our boat up to the same level as our colleagues in Europe and and the truth is we're not in the estimates for this year and as a result of that that we now are making decision but whether we pull out before we're kicked out and there's a decision to be made do you pull out of an ERN so that you don't have the humiliation of being kicked out you leave beforehand and say look we got into this we were hopeful we'd be able to keep up to the standards that have been set but unfortunately we don't have the ability to state the standard that we need and the standards are really simple in the matter for example we applied for a promotion of a nurse to an advanced nurse practitioner so they could manage the program and we applied for a database coordinator so they could introduce the data that Europe needs to know how many patients are taken care of so it's not big asks you're not looking for a new building you're not looking for a new expensive equipment we weren't even looking for new drugs we were looking for administrative support to be able to match our our colleagues in Europe and be able to be in that club properly so that we could then start to develop this in the future and so I I leave you with caring for patients with it it's an absolute honor and pleasure to take care of people who face these challenges and also I suppose to have the teamwork that I have around me to be able to manage these patients but it is distressing to know that there are ways we can do things better and faster that don't come at necessarily a huge cost that are not available to us at the moment and I think it's fantastic to see the interest that's in this area of rare diseases you never know when a rare disease will come your way it's rare until you get it yourself and then it's not quite so rare so it is it is and you can hear but the number of people in Ireland who have it it's not insubstantial but Phil Pope Park a number of times the people who go home every day knowing that they have something that is uncommon and there aren't many people you've bumped into with it but when they come together they're quite a force so my my last comments I suppose and as I would share Vicki's passion for we can make a difference I think that the European Union has a real role to play in pushing us to match the standards that we know are well capable of achieving and and going beyond and actually beginning to lead the rest of Europe in the way that we would approach things and but I'd like to see this young lady that I now have I'd love to see her have a better outcome again than the last lady that I spoke of that she'll live longer than that that's 17 18 years I think with the therapeutics we have available and the expertise we have available new equipment and new transport facilities I think we can get even further for her but I am concerned that the urgency isn't there thank you thank you very much I'm struck again not just by the passion but by the optimism you have as the potential benefits of the the European Health Union and our final panelist is Jennifer Lee Jennifer is a trained health economist and biochemist originally from Canada she holds a bachelor of science in biology biochemistry and mba in finance and a postgraduate in pharma economics she's currently a therapy area market access leader with the europe middle east and africa region at jensen and is based in Copenhagen you have the floor thanks mary um so as you just heard from mary my role does cover europe middle east africa so bolstern clearly not an expert on ireland um i do know quite a bit about you know the policies in the EU and and that's what i wanted to kind of mention today and what i think you know the impact could be on some of the smaller countries such as ireland and i share your passion and your optimism and the frustration as well um because i see it in many other countries so i wanted to also share some stats um about rare disease in general and i think everyone already touched upon it but really in europe an estimated 30 million people have a rare disease um half of whom have not yet received a diagnosis so you know i would question is 30 million people rare that's that's not rare that's a lot of people in the european union uh to be helped and i think in previous decades um rare diseases were pretty much invisible right um in national healthcare systems this has improved a lot though um and it's really encouraging to hear what you were just saying about you know there's people out there that care that are really improving care for these patients um you might want to know that 20 years ago so that was when the previous um EU pharma legislation with the last major overhaul of it um they there was very few formal orphan products now those are the treatments that are for patients with rare disease in europe um at the time the number that were approved by the european meds agency were only eight eight okay so single digit prior to the introduction of the EU's orphanage regulation in 2000 um now over the past two decades that's approved and today there's about 200 or just over 200 orphan medicines approved in the european meds agency um so i think time right now is a real time for hope for rare disease patients but there's still a lot that needs to be done to improve care to get the right diagnosis and the right treatment for the right patient at the right time and moreover in a way that's sustainable for our healthcare systems across europe because we do we have to acknowledge there's a sustainability issue here um and and there's an affordability issue we we know that uh i just wanted to touch upon the the white indicator um across europe so that's across not just the EU but also you know comparable countries such as such as the uk um on average only 39 percent of innovative orphan products are available across the EU and in ireland only 26 percent of orphan medicines are available and this is the the statistic that that shocked me so the average time it takes for an orphan medicine to become available on the european market is 635 days and in ireland it's even longer at 877 days so there is room for improvement um just to say in in relation to the EU pharma legislation that the national governments of the member states are still and will remain in the driving seat when it comes to health care provision and funding that is that is a member state um capability um but EU policy obviously covers uh you know all member states and i think particularly since the pandemic we've seen a lot of um interesting changes so we're now entering a time um as vicki said the the legislation was released last week um where these policies will start to have an impact um extraordinarily wide ranging with good initiatives obviously i'm not going to repeat them um really keller already talked us through the major ones but i you know strongly believe that EU member states um have a major role to play in the fight against rare diseases and you know i've come from canada i've worked in australia i've worked in the uk i've worked all across asia pacific so i've seen the impact of different health care systems on the health of different citizens in different countries and i and i i know firsthand um what national policies can do and i firmly believe that the EU has such an opportunity here with you know 27 member states and many many patients if we get this right um the european health data space if we get that initiative right together with the european reference networks where as you were both saying you can share the knowledge on the best care best practice across europe no matter where you where you are where those patients are because they're rare they're they're hard to find right um and if we share that data and share that knowledge and create a pan european health care data system with interoperable you know systems across the countries we will know so much more about rare disease and i think it'll be it could be the world's most powerful data set to improve patient outcomes and health care efficiency for rare disease patients the EU has such an opportunity to get this right and i know that the UK is just kicking themselves what did we do um because to be part of this powerful data set i think is such a such an opportunity but the funding has to go behind it and i share your concern about the european reference networks it's only as good as the funding continues um and then we need to link that up with the the european health reference network um i think the thing to say about the pharma legislation when they talk about orphan and pediatric and the regulations there um you know currently we have eight years of patent protection but what's the the the legislation is saying it'll drop back down to six and then you can creep back up basically but two years um if you do launch your medicine across the EU 27 within the two years and what i would say there is you know obviously i share the concern that there's inequity across across europe uh in terms of patient access we we all do but the pricing and reimbursement is still going to be a a national level competency so i personally don't sorry i personally don't understand how you can then say within two years we'll make the medicine available everywhere if you're still waiting for a pricing and reimbursement decision in one of those member states um i think that the the thing that we are moving on though at european level is the the EU joint clinical assessment so uh and in reference what vicki was saying earlier about health technology assessment the first part will be done now at an EU level um in terms of comparing the new treatment clinically uh to what is currently available that you will get a a member state report but it will still remain up some member states to then assess that and to determine what the value is of that um because obviously every healthcare system across europe is different so that that value assessment will remain at the member state level um so i am concerned about the the two-year regulation particularly for for rare disease because let's say you don't even have a specialist center in a small country and and let's say that that medicine you know is not going to be available in that country because there's not not going to be anyone to treat those patients the better thing to do there is to get the cross-border healthcare directive actually working and so that you can set up these clinical sites in the specialist um centers that are across europe and make sure that patients are moving across the the EU 27 that is a more pragmatic way of doing this it's it's just not practical in some of the smaller countries uh whether may not be a specialist site and there may only be a handful of patients um to to make sure that that's available within two years it's it's it's not practical so um yeah what i would leave you with i guess is you know this this country definitely has a lot going for it when it's when it comes to rare disease policy for example you have a national rare disease policy which in many countries in the EU they they don't um but i think that the the strong um life science ecosystem you have in in ireland and i know i mean my own company employs up you know 5 000 people in manufacturing and cork so there's a huge manufacturing life science base in ireland that's really important to to irish gdp and there's you know great science here as well um but there's definitely room for improvement when it comes to the the patient wait times and i think everybody's already referred to that the last stat i'll leave you with is ireland ranks 27th out of 35 european countries and the time it takes to access new medicine so that's the time between the european meds agency marketing authorization and actual patient access to reimbursement so that means patients with rare disease in ireland take it have to wait three and a half times longer more than patients in benmark where i live more than twice as long as patients in the netherlands and more than twice as long as patients in england so i would suggest there's room for improvement but there's definitely an optimism in this room and certainly optimism from from people like me who have to look across all of europe in our in our jobs that this country really does have the opportunity to to be part of the solution to join together with europe um and to be the best so that's the message i'd like to leave you with thank you very much and i think nicely when runs off that that part of the discussion so the floor is open to both people here in the room and those of you online using the q and a um please uh do identify yourselves and any organization that's relevant um could i maybe start off the the uh discussion by putting a question to billy and also if there's a question you want to direct to one of the panelists or to billy kelher please do identify that um you spoke very strongly about access issues um but i want to understand better myself given that decisions on the pricing and reimbursement of medicines are the purview of member states how exactly will the health um the european health union facilitate a greater access um given that if you like that particular uh problem yeah well i can remember um in 2017 i was standing outside dollair and as a spokesperson for for my party in health we were in opposition uh we were advocating for patients government is inside the building they have challenges around budgets and finance um and we were campaigning for or can be and i think reprisa for patients with cystic fibrosis it was november and it was pelting rain and it was about three degrees celsius and i felt like that you know there was a better way of doing things rather than i outside with patients and a government inside now the government inside if if we if we changed the the makeup of the government they would have been outside and i would have been inside but the point is it was just wrong but i think the key issue here is that at least from now on if we have a proper health union where you have the health technology assessment to a centralized level um the european medicine agency approving the health technology assessment on that then is approved across europe it then puts huge pressure on governments to have to fund as opposed to this process that was in place previously which was very drawn out i mean the first national center for pharmacoeconomics would put forward their health technology assessment to go to the department of public expenditure back to health over and back so they were the system was able to slow down the approval process but at least if it was done out central european level countries and governments would be exposed in the event they're prevaricating over whether or not they would actually reimburse so at least there will be some element of democratic embarrassment if no more but i do think longer term we have to look at a hypothecated fund system whereby if it's approved at central european level as i hope it will be that then there will be a fund in place to assist countries that may have budgetary challenges from time to time or member states that have just poor budgetary positions most of the time and that you would be able to spread that load across the entirety of the european union otherwise you're back to where you are which means member states um chop and choose the twin or not they approve um ireland even though we you know financially we're doing quite well on the point of overall budgets we're still a laggard when it comes to the approval process for medicines and i certainly do not want a situation where a country with our capacity has to put patients outside doll air and to request approval of a medicine that's available in other member states so the short question is at least if it's done centrally it also takes up less resources to do these things centrally but governments didn't will not be able to fabricate or delay the decision by obfuscation of a system at member state level thank you very much for that um anybody here looking for the for the floor uh we're all very shy today yes i would second what billy is saying there i know of products now that have actually been approved for reimbursement and are still sitting in the hsc waiting for that final signature so we have stuff that's been in there that uh was approved uh by ima maybe about three or four years ago i think was 2018 and we know that the drugs committee so it's gone from sp to cpu to the drugs committee through the technology review committee back to the cpu uh backwards and forwards but it's still waiting for that senior leadership team signals and it's probably about nine or ten months since there was a last that we know of action on this and therefore there's patients in this country that are not getting access because of this delay some of them are fortunate enough that they've been able to travel to get access but how much is that costing the state versus if it was available here today and i would say that the role i'm like i guess the value of the er n's in driving best in class care i'm like we will be on a two tier we will be on the lower track if we don't give access to drugs that other people living with rare diseases across europe are getting access to the other thing i would say about the whole idea of being out on kildare street cystic fibrosis and cystic fibrosis ireland is an incredibly well established patient organization there they have a lot of i guess resources there's a lot of people in the country it's probably not that rare condition in ireland but when we talk about some of the others there might be one or two what impact are they going to have on kildare street and how are they going to get access to these things if this is our route for getting access to medicines we've got to do something that you know that eliminates the fact that well i'm a not rare disease or i'm an ultra rare disease and i may as well just pack up my tent and go home it's not equitable it's not it's not a society that we should be enabling is not good for your health so if you've you know yeah but it's yeah i so i mean can you imagine that being a young person of cystic fibrosis who really passionately believes in that and that's topic now there might be there's lots of sides to that argument but they're out in the rain fighting their cause and i've got patients with pulmonary hypertension who can't walk the length of this room without being severely reckless but when they when they feel that this is their job to go and do it they put themselves at risk i mean the difference for example in my disease in the difference in pulmonary artery pressure in your lungs can can double in the face of stress we're inside in the cath lab and we're looking at the numbers and then something happens something crashes on the ground or so the noise pressures go way through the room so being politically active that's not what i want from a patient i want them to be quiet to live their lives to the best they can and have other people like the EU like our politicians or people see that this is this is something that is common sense you have a drug it's available in france can we have it now in Ireland please because it's been available in france the past six months and people are enjoying the benefits of that not to be out in the street with it it's bad for their health and i just ask you both of you and maybe general so both of you have described a situation and in different contexts one was with the heal pricks where it just takes very long and with authorizing medicines it takes very long have we created just a very complicated system the solution to which is to simplify and remove lures and that's a very bureaucratic thing that one doesn't need much expertise to do um i mean yes i mean i would say there's probably better ways or simpler ways of doing it i think if we do share the workload as billy is saying across europe we would enhance it for everybody um i think that um yeah i mean i you hear about countries say for example i mean not to not to talk about particular products but salgents for sma spinal muscular atrophy you know a newborn is born isn't diagnosed at birth until they they can't sit up and stuff and it becomes oh there's something going on here we better find out and then they go through the process of getting a diagnosis and whatever and so they're already deteriorating in health and there was a fabulous meeting just before christmas around us and and it's just i mean you see you know younger siblings of an older child that you know are being diagnosed because it's an older sibling and the outcomes for them are so different it's kind of this just doesn't make sense and everybody's sitting there saying this doesn't make sense but still we have to go through the three years of paperwork and this and that and the other it's kind of like let's expedite this let's put the resources where they are needed to make it happen today we know it's available in other countries what is magically different about nothing realistically other than we want to do it here i would suggest that we suffer from a severe case of NIH not invented here if it's not written by an irish person therefore it doesn't really hold an Ireland and i don't think that that's fair and i think if we again reflect back on the fact that email was established and i'm sure there was lots of concern and fear initially but yet we're all very happy with the work that it does now and i think that we need to far more proactive to enable small countries to sit at the table with the big countries who have far more people available to them to do this type of work and i i despair of the fact that our drugs committee just as one example our drugs committee meets typically once a month definitely not more than once a month and that there are a series of consultants sitting around a table looking pushing pieces of paper they should be in front of patients i would like to see people like that with the patients all the time see the effect that that'll have on our waiting list and i know that for many people in the healthcare system there is a large amount of time spent doing stuff that actually other people could do that could be outside of their remit that they're actually do the same patient facing work far more and and have a much more beneficial effect to to us as a whole i'm just excited help data space can help with that thing because i obviously i've just heard you say the not invented here syndrome and definitely our lives not alone there's many countries in europe it's like you know even some of the big ones particularly you know if you look at the ujca some of the big ones are very against it because they're like no thank you will make our own decisions thanks very much um so i'm just wondering if if there was one source of truth right so if you could actually set up a registry for every single rare disease 10 european everybody fed into the system whether it was you know clinicians patient groups every all stakeholders and everybody saw that as the one source of truth do you think that would help with these sorts of things because you'd speed up you know diagnosis presumably especially if you linked it with genomics and it could speed up you know knowledge about the disease and also for example if there's concern about reimbursing something some of these newer therapies it's it's one-time treatment so there's concern about long-term efficacy and safety durability so you know what if you were able to say well conditionally reimburse you and we'll follow these patients using this this one source of truth in the registry you think that would help in terms of speeding up access but like no one you but hope doesn't do i'm sure there'll be lots of growing pains with a system like that and it's a big it's a big ask but you know i i get that there's concern over sharing data and about you know bad actors getting access and things like that but i can guarantee you that if i go into facebook i will be able to identify all of the patients in Ireland living with particularly with the other way of things we know them we know them already because they're out there they're telling their stories they're sharing their information because they're trying to get attention and so you know i guess the slightly patronizing paternalistic approach of you don't know or you know we you don't need to we want to we really want to we want to see this happening we want to see the data being shared and i think that if it provides i guess the reassurance to the pharma and to payers that actually we're all on a left field we're paying the same amount and we're looking at the same set of information and we're making decisions with the same amount of information and you know i i i i guess that experts in different countries feel that they're more expert than an expert in another country if you're such an expert why aren't you sharing your expertise with everybody else why aren't you teaching everybody else i'm not you know the mind boggles and i think i do referenced earlier on the concept of getting three or four you know senior respiratory physicians in different hospitals to come to the table and say you know what yet we're better together than not we'll do this better together as a grouping that's that's you know that's a game changer in Ireland amongst those those people and i know it doesn't work with all of them we didn't get into all of the errands but i think that we have an option to do it and therefore i think we should be pushing really hard to make sure that we share we have quite a few questions coming in so i'm going to try and group them this question is from Keith smart smart uh lecturer assistant professor of school of public health with your therapy and sports science and he's he thanks the panel and he says can the panel discuss how rare diseases might best be researched using clinical trials and um uh then donal griffith asks would cross border treatment programs be a feasible solution in the EU if countries were to share the load and specialize in different rare disease areas could this sharing of the load reduce cost of the individual treatments and provide greater benefits to patients did anybody like to take either or both of those questions i think i might make come to trials um we've been involved in almost all of the clinical trials that have come along in pulmonary hypertension over the last 20 years um and i have to say this is becoming increasingly difficult to participate in clinical trials in Ireland at the moment um there's a lot more bureaucracy involved um a lot of efforts have been made a lot of efforts have been made to simplify but actually they've made it even more complex by having a central national ethics committee but then it still has to go to the local ethics committee it's becoming really difficult and i think it's probably not feasible to do clinical trials in Ireland unless you have a very big machine now so rare diseases there's really a big machine behind it it's usually very you know obviously smaller numbers of patients it's different if you're doing it on cholesterol drugs or asthma drugs but if actually you're doing a rare disease to have the infrastructure necessary in those clinical trials i think is prohibitive at the moment so i'd be concerned about that there are other ways though i think in response to the question there are other things though that you know patients who get more involved in is sharing information themselves there's activity level monitoring for example and there's things that can be done that are not quite as rigorous as the normal multi center randomized clinical trial where people are sharing information about what they can do now that they couldn't have done before before they were on therapy so there are other approaches and that are coming to play real life collection of data and and i just say then your your the second comment i think but cross border i think you know one of the difficulties is do you really want to be traveling cross border if you've got a rare disease a lot of times what's what's missing is just some direction from above and you don't necessarily have to travel that distance if it's properly structured and coordinated so for example with the urn urn lung part of the being an urn lung is that we we say that we will reach out and travel other places to take care of patients so as i go to cork to visit patients with plenty of attention and do a clinic there that clinic is gone now it was there pre-covid it really isn't properly supported we don't have enough staff within the matter to go out the cork at the moment so it's it's falling down it's very simple thing you get on a train in the morning pop down see a bunch of patients there and save six people coming up to Dublin to per clinic i can go down and see them there and bring a nurse down and we can go over it we've done that on and off over the years but it's been ad hoc so the urn's are set up in such a way that you don't necessarily have to travel the clinic comes to you the expertise comes to you so i wouldn't try and make life easier for patients maybe more difficult for clinicians but as long as it's properly supported it's very feasible i think there probably are a few exceptions with some of the new gene therapies and atmp's and stuff that will require expert centres for administration and you know handling the new new drugs but generally speaking it should be traveling to the patient um very down there yeah a few more sorry please Billy yeah no no i i just wanted the whole issue of clinical trials i think is it going to be a serious problem for Ireland um we have a major pharmaceutical sector yet if you look at comparable countries would just say Finland and mark similar populations with not the same history of pharmaceutical industries well fairly competent but not the same yet they would have done an awful lot more clinical trials than than we would carry out in Ireland so i just think it's an area where we have to assess why are there so many barriers to clinical trials it just sends out a very poor signal in the whole area that you you have your pharmaceutical sector but yet you're not willing to go into the whole area of clinical trials just finally then on the issue of a a national or an european register for rare diseases i think there's two things here firstly if we had a common um newborn he'll test for for for for neonates at least we could build up a detailed bank of the rare diseases and the other challenges that will be placed on the individual but also on our collective health system into the future in other words you can start planning because of of of the diseases um that that you've identified and the illness and the syndromes so you can start putting you know training into clinicians uh in enhancing infrastructure and you're right rather than the patients always traveling so Ireland's building a center of excellence in the children's hospital is only about a building it is what happens inside it is the issue and you know we could therefore um have a situation where we may not have the competency ourselves because we're a small country where clinicians could come from abroad every now and again to assist and equally Irish clinicians can go elsewhere at times you may have to move patients but i do believe that longer term the the in my view it's the clinicians should be traveling to centers of excellence rather than the other way around but i think the first step is just to build up a clear bank of data of uh are the illnesses the diseases the syndromes so you can put immediate uh care pathways in place but also plan for the infrastructure both personnel and physical that would be required in the years ahead otherwise you know we will have this fragmented system that just doesn't really talk and cooperate with each other thank you for that and two more questions here then Declan Mina advocacy officer for fighting blindness asks will the government provide financial supports to help patient organizations take part in these htas and educate patients our health system would be better with more input from patients and then a question from Epoche Sullivan TD to what extent is this a rights-based issue i.e i could be a patient in Germany or France with full access to a drug and in Ireland i might be told that it's unavailable to me to what extent again is this a rights-based issue uh i can i can opine on those yeah um i guess on the first piece for Declan's piece around patient advocates getting involved in the hta process there are routes that enable that but as he says there is absolutely no funding and it is it is a huge issue i have heard of organizations spending 200 300 hours putting together a submission and that's a well-funded well-established organization and how do you do it for the ultra rare condition so there's clearly going to be you know challenges and barriers there there's no obvious means for that to be enabled today i would like to see something like NCPE actually you know rolling up their sleeves with the patient organizations to actually say right how are we going to do it where will you find the people this is the layout they give a Q&A but it doesn't really it's not it's it's fine as i say if you have a huge organization but it doesn't really work for for many and there is a need to i guess try and level that playing field that if you're going to use the input of patients then you need to be able to level the playing field that it's not something that only patients that you know have a higher incidence get get access to um the rights based stuff i i'd love to say that i was a human rights lawyer and could really work my head around it i think it probably is a rights-based thing but it's trying to work out how do we position that i'm like Ireland has signed up to i don't know how many UN conventions uh and most recently they were one of the one of the countries that led not led out on designing a rare disease uh what was it people living with rare disease uh UN uh anyway not a convention but the thing that comes just before convention the R word not it's not even regulation anyway but but declaration that type of stuff yeah exactly but you know around rare diseases and i spoke with our our mission in in new york and they were really enthusiastic yeah this is brilliant this is great stuff this is the kind of stuff that we should be doing here or you know this is what the UN is for to make sure that the sustainable development goals align with the needs of people that are vulnerable in all of these countries and stuff and Ireland was one of the countries that was first to sign up to us but you don't really see that on the ground here and i'm trying to work out what is the link but there's only one of me in rgi and i have a limit to what i can actually do um so so but you know i would love if somebody would like to do a master's thesis but anybody knows anybody on how does this work and how do we make this a human rights-based issue i would love to see it happening because i think it is a rights-based issue yes i would like to add on that and i give you an example so uh the medical card uh if you have epilepsy we just say and you guess uh it's a designated disease for a medical card so all your medicines are covered and that's fine but if you have other diseases many rare diseases and i'll give my example my disease for probably hypertension you don't you're not on that list so if you have a job or your spouse has a job and there's a bit of money you don't get paid now you you're on a pump that you have to buy yourself so you actually have to physically go out and buy a pump that's about 10 000 euros you need three of them because you need to have them stored in case one of them breaks down you need an infusion that's going 24 hours a day seven days a week you need bandages and you need oxygen a lot of time you need electricity for the oxygen etc that isn't covered by the state now to me that's a right space issue um why is one disease covered and another disease isn't covered why is the disease that's really expensive not covered and in fact we tried to fight this in the past and the only person listened i don't know if you remember you can tell but you and i met in the doll you when you were uh when you were there as the spokesperson for health and and you really were great and welcome to try to push that forward before you disappeared to europe and it was great it was good to have me here i believe that is a very positive because uh it was somebody listened to us we went in with a group of patients and we we tried to get people to listen to us but the door was open by uh by a few people and we had a good old chat about it and i think that is a right space issue because it's not fair that somebody uh is suddenly becoming uh poor and poor and and potentially in fact that the person in question that we met that day in the doll with you ended up having to give up their job so that they could support their wife because their money was they're too much money so those things aren't their right space issues i think that's not appropriate you're already bad life's bad enough and you get a rare disease but be told that you're also now going to cost you 500 600 a month just to live with that disease is important just on the rights issue i mean look i mean the european union is um is a political construct so it's underpinned by um the aquee and by you know the treaties themselves so i mean the difficulty here is that we don't have any legal um standing around the issue of conferring rights on individuals in the areas of health bear in mind we had that particular very very divisive debate many many years ago in Ireland around the whole issue of you know the european union telling us what to do in certain areas of health and health care particularly for women and the whole issue of the the eight amendment at the time so i mean there is that issue that governments uh because of budgets but also because of you know different cultures and attitudes around that areas of health have been guarded and very guarded in allowing any interference by europe in the areas of health but now i genuinely believe that the the sands have completely shifted the fact that we actually have a committee established here to talk about a healthy health union is fundamental of course if you want to confer a right on an individual you have to have it in the treaties and certainly that would require a treaty change which would be very difficult but i think look the the you know sometimes perfection is the enemy of action and i would like us to get true as much as we can um the treaty changes will have to come at some stage but in the meantime we could certainly do the medical assessment centrally we could certainly do the approval centrally and i believe we could do reimbursements centrally as well and that would be a good start and then we could certainly do centrally the whole issue of um the newborns but as podrick or sullivan who was my local td so i have to answer my local td i live in this constituency and at the moment you can't confer that right but i believe there is a moral issue here at state that if you are born in bucarest or in dublin that you should at least have the same chance when born for access to health care thank you for that billy i would have thought any rise-based system is based on the fundamental principle of equity of treatment and what you have described is not equal treatment and that that immediately makes it an issue of concern um two questions one for shone and two questions for billy um valken ilmetz from dubbin city university has asked me to ask shone where does he see the role of primary care and diagnosing and managing rare diseases um and billy he asked a question for you um how could ardent link its rare disease strategy to slownshire care and others may have used on that as well and then um just as as the time is going on i'm going to ask the final final question which is from jill donahoe the deputy director general of the i i b a and she asked the question about the new industrial policy and ireland's participation in the health i p c e i important projects of common european interest which specifically mentioned rare diseases could we use the funds now being made available in the new policy to train up people there's two billion euros available to get the staff mentioned by professor gain to be trained so could i give you some primary care it's a very very good question in my area it takes the patients have symptoms for two years and see it on average for doctors before the diagnosis is made so in our guidelines the new european society cardiology and respite society guidelines right up the front is general practitioners so we have a campaign of education in general practitioners general practitioners always embrace these things because it's their patients there and they're the ones sitting there challenged by the symptoms that all don't add up patients breathless but why are they breathless it's not as much as i give me inhalers that are worse so they're really do engage so i i think it's very good yeah primary care have a huge part to play being the first eyes and the first uh the first person to to really start thinking not everything's common and sometimes it's a rare disease and it'd be great then to be able to launch into the system and know where to go next and that's the next job didi would you like to come in there on this launcher care issue yeah i think from the point of view of slant to care look i mean i actually sat on that committee the slant to care committee before i left and disappeared over to europe but as somebody said daddy i retired to europe no but um the issue really around rare diseases and primary care i mean i'm saying this now as a layperson but as a practicing politician for many years it was very much dependent on the gp you met or the gp and maybe the incinerary supports around that particular practice that there was no uniform pathway that in the event of the gp being unsure that there was a quick referral system so it depended on the capacity of the primary care center or the gp themselves to have an idea in the first place and i simply think when we're talking about rare diseases bearing in mind the 7 000 of them we're a very small cohort in the overall population of europe that our gps could have that fundamental knowledge but there should be a seamless immediate pathway for referral on and i've cases and sure Sean and many others as well over the years where like you were going maybe for four or five years through a journey to get a diagnosis because you know it just the system didn't allow for that so that's why there has to be a first of all a neonate system in place of testing but beyond then that if there's uncertainty around this that there's a seamless pathway and that requires potentially even international or european wide support so in other words you may not have the capacity for every specific area but clinicians and you know cooperation across the european union i think could speed it up but um i just think the sloucher care puts a lot of emphasis on primary care and rightly so what a primary care will only do the job if the resources are put into primary care in the first place the building as i said without the clinicians and without the support staff is just a building and that has been our weakness very often in not having teams of people that can support the primary care frontline clinicians and support staff i'd love to just jump in there just just around this whole topic it's um i guess the feedback that we get as a group from people living with rare diseases around the country is their gps generally don't know that for some they're being gasless kind of there's nothing wrong with you you're fine and eventually they'll come up with the diagnosis i think we need to go right back into the med schools into the nursing schools right back into all of those schools physio dentistry everything and give everybody an opportunity to say this is potentially a rare disease rather than putting it all on just the consultants to actually come up with that diagnosis and i think you know ucd as far as i know is still the only med school that has a module on rare diseases none of the others too and therefore we have teams of healthcare providers going out thinking everybody is sick with the common disease because they've never even heard of what is a rare disease they don't do anything around genetics they're not being upskilled and now you know we have our new genetic strategy launched in december and you know a key component of that is how do we upskill everybody get them to actually think about this stuff as a first you know thought process um so you know we we go out with campaigns you see it the the states has a fabulous campaign the our equivalent in the states north is what they're called but there's is what is it it's a zebra and it's kind of like it's not always horses when you hear hooves it's not always horses think zebra and we don't do that in this country and i think even as just a starting point to say if we did that we could probably reduce that 37 percent waiting over five years for a diagnosis just one little comment to that when i was leaving Hopkins which is now over 20 years ago they were redesigning their medical school curriculum and they came up with a new curriculum which was genes to society and the notion was that the future medical students had to start with the basic genome nowhere it can be wrong and then work up from there to see where it can impact on society and that is a great way of knowing about rare diseases because ultimately so many of those rare diseases started that understanding the genome and then finding out little changes and make all the difference little change here there and you've got sickle cell you little change here you've got cystic fibrosis the genes to society is away and that's now the medical school curriculum in Hopkins I'm sure many other places in the US but it's a 20 year old story so when you retire out of medicine you're going to go into the med school and change that system for us yeah like like like billy flying off to european flying off to the med schools we hope well with that thought we could we could end it but i'd just like to give the panelists and billy if there's anything any further points you'd like to make um any last things like to say please feel free i think we need to put europe to work for us sorry billy we need to put yeah look i just i just think we're on the coast with something great in europe um it's the start of a process where we're literally changing um the whole political apparatus of europe in terms of how governments fund health care the decision making process who's responsible who's ultimately uh accountable so it will take time but look i believe that we should all engage in this process every one of us health care providers the pharmaceutical sector medical devices governments NGOs advocacy groups if we get this right if we get this right we will serve generations of people into the future and we will confer what we were talking about earlier on equality and citizens across europe which ultimately is what the european union is about so i think it's a wonderful opportunity and we must be patient but at the same time ambitious and i think we can get there best of luck and thanks very much but thank you all very very much both to our panelists and to to our audience online and here and um let's hope all this optimism is justified thank you very much thank you


Just Edw's Surf have just launched a new practical guide on getting IT right for shared services. Tell us a little about it. Interesting piece of work. The purpose was to look at the contribution that technology and IT leaders need to make for the success of shared services. Shared services are continuing to go rapidly across the public sector nowhere more so than with local authorities working amongst themselves but also with police, fire and increasingly I suspect now with health. An underpinning successful shared services is technology. Also one of the biggest barriers, one of the biggest things that trips up a shared service programme is failing to understand the risks and the issues associated with technology or doing appropriate due diligence. The report makes a connection for example between mergers and acquisitions which in the private sector are known to depend heavily on aligning technology infrastructure and systems with the way in which you would approach a shared service between local authorities, between public service agencies. So the report focuses on that, gives some practical guidance and indeed we're going to be running a shared service event that will look at this and some case studies from the UK.


Yokozuna scared the shit out of me as a kid so I wanted to know like could you give me can you teach me something about Yokozuna can you teach me more about him well Yoko he should have scared you because he was legitimately able to do anything he wanted to do he was a great guy obviously if you weren't facing him in a professional situation he could be a little little little stiff and depending especially on who it was but I watched him land on a couple of those guys and I'm like oh my god that hurt me just to watch it and I feel so sorry for the guy but it was you know it's national TV you got to do what you got to do but he was a great guy he just he just let his weight get out of control and even even at 600 pounds he was a great athlete and he could move and he could bump but then when he got further it just you know it took a toll on him that's why he's not here anymore but you know he just couldn't keep it under control we sent him to Duke weight loss when I was in the office up there they sent him to Duke weight loss clinic he gained weight send him to Duke he ate Duke