Jennifer Carroll MacNeill: National Strategy for Rare Diseases Explained

I want to begin not with policy but with people, by acknowledging with real, I hope, sincerity and respect the people across Ireland who are living with a rare disease, and the parents, partners, children, siblings, carers, families and friends who walk that journey with them every single day. At the outset, I want to be clear that the Government is committed to improving the lives of people with rare diseases. Living with rare diseases, that means working to support earlier diagnosis, better coordinated care, appropriate access to treatment and stronger patient partnership. I also want to acknowledge the work of deputies across this House, including yourself, Deputy O'Sullivan, Deputy John Lehart, Senator Theresa Costello, who we have worked with in the Seanad, in continuing to raise awareness of rare diseases and the lived experience of patients and families. We know that many rare conditions are complex, that they are lifelong and in some cases life-limiting. We also know that families can face real challenges in accessing diagnosis, services, medicines, technologies and supports in a timely and coordinated way. That is why the Programme for Government included commitments to publish and fund a new National Rare Diseases Strategy to improve access to orphan medicines and to examine new approaches to earlier reimbursement of certain treatments, including an early access scheme for rare diseases. Last August, we published the National Rare Diseases Strategy 2025-2030, which gives Ireland a clear national framework for improving diagnosis treatment and support for people living with rare disease. At its heart, the strategy is about improving quality of life, supporting fairer access to healthcare and making sure that innovation in research and treatment translates into real benefit for patients and families. In response to a reality that many families know all too well, while each rare disease may affect a small number of people, rare diseases together represent a significant public health challenge. An estimated 300,000 people in Ireland are living with a rare disease, and the impact on individuals, families, health services and the wider society can be substantial and complex. To make sure the strategy moves from words into action, a three-year strategic implementation plan is being finalised. Its purpose, of course, is to turn the strategy's recommendations into clear actions, timelines and governance arrangements so that progress can be planned, tracked and delivered in a way that people can see and feel. The first phase of implementation will focus on priority actions across several important workstreams, including research and innovation, international cooperation, European reference networks, data and registries, education and public information and screening, diagnosis and access. Across all of that work, three cross-cutting themes will remain central. Governance and accountability, implementation and monitoring and patient partnership. Personally, I believe patient partnership is highly, highly important, even more so when it comes to the nuances and experiences of rare diseases. In every discussion about rare diseases in this House, I know people are referencing real lives, the real lives of their constituents, the real lives of the people in their areas, the children, the young people, adults and families who carry a weight that is often unseen. Families may spend years searching for answers, moving from appointment to appointment, telling their story again and again and again, hoping that somebody is going to join the dots for them. For many people, living with a rare disease is defined not only by a diagnosis, but by uncertainty, waiting and navigating a system that was never designed for something so complex. That is why it is so important that we discuss rare diseases here today, and I thank those people who would have called for this debate, including yourself, Cahirlach, but also that we lend our voice to the commitment, lend our voice but our commitment to action. We know that collectively rare diseases are not rare at all. There are more than 8,000 rare diseases with approximately 300,000 people living in Ireland and 30 million people across Europe all living with rare diseases. That is one in every 17 people. It is not a marginal issue. It touches every community, every county and every constituency represented in this House. One of the strongest messages I hear, and I know deputies hear too, is the importance of being listened to. People living with rare diseases want their experiences to shape the services that they rely on, and they want to be treated as partners whose expertise is trusted. The National Rare Disease Strategy makes clear that people living with a rare disease must be treated not as passive recipients of care but as equal partners in shaping policy and services. That is fundamental to better decision-making, better design and better outcomes. That is why patient and public involvement must run through every aspect of our response from policy formulation and service design to research, clinical trials and awareness and education. And if we are serious about reform, then we of course must be serious about listening and how we listen. One thing that I hear clearly from patients, families and advocates is about care, not only access to care but how that care is experienced. For many people living with rare diseases, care can still feel fragmented, with different appointments, different specialists, different locations and different parts of the system that do not always connect as they should. Let me highlight that that's even more significant when it comes to the child and parents bringing their children to different appointments in the paediatric hospital system that could be much better coordinated from the perspective of the child and the family, particularly those families that have to travel for those appointments, often many times in a single month. When that happens, when that disconnect happens, the burden falls on the individual and, as I said, the whole family trying to hold everything together. And the National Rare Disease Strategy is very clear on this point. It calls for equitable, inclusive and integrated health and social care, including access to wraparound supports, better transitions between child and adult services and improved care coordination. It acknowledges the particular burden created when people and families are left to coordinate complex care themselves across multiple specialties and settings. Thirteen care coordinators have been provided to support patients in navigating the health service. We are also continuing to develop integrated rare disease care pathways, several of which have already been developed and approved. The HSE National Rare Disease Office hosted a symposium in May focused on improving diagnostic pathways, care pathways and supports, and it brought together patients, policymakers and health care professionals. And we have two further events planned later in this year. It is important because care pathways are not an abstract policy tool. For people living with rare diseases, they mean the difference between joined-up care and fragmentation. They mean the difference between clarity and confusion, between confidence and crisis. We must also, though, be honest. Integrated, organized and well-coordinated care remains one of the major pressures felt by families, and this is well articulated by them. When community, disability, primary care and acute services do not align as they should, the burden falls back on the individual and on the family, and it's not fair. Awareness and education among health care professionals is greatly improving, and the implementation plan does address these issues directly. But for far too many families, the experience is still one of navigating complexity alone. When I launched the National Rare Disease Strategy last August, one phrase really stuck with me, and I understand that it captures the experience of many families. The diagnostic odyssey, that long, painful journey to find out what is wrong, leads to years of uncertainty, years where symptoms progress but answers do not come. The strategy speaks directly to this, acknowledging that many individuals wait far too long for an accurate diagnosis and that this delay can have lasting consequences, and we know it's not unique to Ireland either. The World Health Organization has highlighted that many people across the world never receive a timely or adequate diagnosis, and that improving early diagnosis must be a priority. When diagnosis is delayed, everything else is delayed. Access to treatment, access to support, access to understanding, that's why early diagnosis is so crucial, because it helps bring certainty, and in some cases, it can change the course of a condition entirely. It's also why the continued expansion of newborn screening is such an important step forward, and I acknowledge the presence in the Dail of the Chief Medical Officer, who is driving this alongside me to really progress, sorry, the Deputy Chief Medical Officer, Ellen Kruschel, who works in paediatric care and who is driving this alongside me to try to bring in as many conditions as possible. This year, we have seen progress with the introduction of screening for rare conditions such as severe combined immunodeficiency, SCID, and spinal muscular atrophy, SMA, in April, bringing the total number of conditions screened for under the newborn blood spot screening program to 11. This can allow intervention to begin earlier when it matters most, slowing or preventing progression in some cases, but I want to be clear, this is just a beginning, it is not an end. Every step we take towards earlier diagnosis is a step towards a fairer system, one where families don't have to fight so hard simply to be understood. The National Screening Advisory Committee and its dedicated newborn screening subgroup continue to work and review and consider further expansions of the newborn screening program, and I have given a political direction that this is an absolute priority to work as quickly and as efficiently as possible to bring as many conditions in as we can, as quickly as we can, recognising the enormous impact it has for families who may know what is the situation with their child much, much sooner than may otherwise be the case. The National Strategy for Accelerating Genetic and Genomic Medicine in Ireland was launched in December 2022, and it sets out a clear vision for a modern national genetics and genomics service that is equitable, timely, and centred on the patient and their family. It recognises that advances in genomics are transforming how we understand disease, particularly rare disease, and it commits to building a system where people can access the right test at the right time, informed by clinical need. In practical terms, that means developing national infrastructure, strengthening laboratory capacity, supporting clinical workforce expertise, and ensuring that genetic and genomic services are integrated into everyday care so that earlier diagnosis becomes the norm, not the exception. The HSE's National Genetics and Genomics Office was established then in 2023 to implement that strategy and to coordinate a national approach to genetics and genomics, ensuring patient and public involvement and partnerships building the workforce for the future, enhancing clinical services, and strengthening infrastructure. And now we're beginning to see that vision take real concrete form. The National Genomic Test Directory, launched at the end of 2024, is a big step forward in delivering a more consistent and equitable approach to testing across the country. It was developed by the HSE's National Genetics and Genomics Office, and the directory clearly sets out which genetic test should be used for specific clinical indications, who should receive them, and how they're to be delivered. It is designed to ensure that patients receive the most appropriate test in a timely way in the correct setting, reducing variation, avoiding duplication, and supporting better clinical decision-making. The test directory's initial focus was specifically on the area of rare and inherited diseases, and now it's looking to expand the test to other specialties. The test directory operates alongside the National Genomic Processing Service, which was launched earlier this year, and it is a centralized pre- and post-analytical service that manages sample processing and reaching to quality-assessed laboratories for genomic testing, as well as the return of associated reports, which then streamlines and accelerates the flow of samples and results. For families who have too often experienced delay and uncertainty, this represents an important step toward a more streamlined, predictable, and responsive diagnostic system which can shorten the diagnostic journey, and it can bring clarity sooner to the lives of those people who need it. We will continue to strive for timely diagnosis through these improved care pathways and building our capacity in genetics and genomics. I do want to speak also, though, about hope. Hope is often what sustains families living through some of the hardest moments, and for people living with rare diseases, that hope is always or often tied to treatment, particularly in relation to orphan medicines. We have newly developed high-tech and high-cost treatments with limited or emerging evidence, but those treatments that give people hope where it may not otherwise be found. Specific treatments have only been developed for a small proportion of rare diseases, which makes every advance significant. The National Rare Disease Strategy does recognize this reality. It clearly states that orphan medicines can offer hope where previously little existed, and it aligns with the program for government commitment to review options for earlier reimbursement of orphan medicinal products and to examine, which we are doing, early access schemes for rare diseases. We really do recognize the importance of access for innovative medicines for patients in Ireland, including and especially patients diagnosed with rare diseases. Annual public expenditure on medicines is now approaching €4 billion. It's an extraordinarily sizable sum. It is a very significant investment by the state. Recent budgets have provided dedicated funding for new medicines, supporting the HSE in approving reimbursement for a substantial number of new medicines, including many medicines for rare diseases. The recent framework agreements on the supply and pricing of medicines, finalized in March, are designed to enable faster access to new innovative medicines, to strengthen security of supply, and to support a structured process towards a 180-day timeline for reimbursement decisions by the quarter 1 of 2029. I do want to thank all of the state representatives and pharmaceutical sector representatives who concluded this agreement, because it is for the benefit of all of us that we have this measure of certainty for the next four years, particularly at a time of very difficult and changing geopolitical external circumstances. Crucially, the state also agreed, and the pharmaceutical sector agreed, to develop a piloted early access program for rare diseases in line with a program for government commitment that matters hugely. For families waiting for access, timelines are not abstract. They're not measured in months, but in movements and moments, moments that matter to each person, each family. And I really am conscious that access to orphan medicines is complex. It necessarily involves questions of evidence, because we are a country that is still determined to focus on science and scientific outcomes and scientific evidence. It necessarily involves questions of evidence. It necessarily involves budget implications, sustainability, and fairness across the health service. And those are practically impossible conditions to ask anybody to make decisions in, and yet the people in our National Centre for Pharmaeconomics are tasked with making exactly those decisions. And I want to thank them for their work in making such complex and difficult decisions. We are trying to improve the system responsibly, transparently, and in a way that better serves patients. So that's why I've approved now a comprehensive end-to-end review of the entire medicines approval and reimbursement services, covering every stage from initial assessment through final patient access. And that has now progressed to tender stage, with an anticipated completion time frame of six to nine months once the contract is awarded. The aim of the work is clear. To identify where delays in our processes arise, where our processes can be streamlined, how can we ensure that decisions are made as efficiently and transparently as possible while maintaining the necessary rigorous clinical and value assessments? I do want to be clear that it is up to us to be disciplined in our processes, but it is also the responsibility of the pharmaceutical companies who have developed these medicines to come and make the applications to us, to make them in a timely way, and to make them in a complete way so that people know that we are able to assess them. That is not always the case. Sometimes the fault is on our side, sometimes it is on their side, but what we are trying to do is make sure that our processes are as robust and as tight as possible in every way to make sure that we are discharging our obligation and responsibility to get the medicines that we can get, that are evidence-based and that we can sustain for people who need them. The framework agreement that we reached does the early access commitment to the move towards a 180-day reimbursement timeline, one where partnership and urgency from all parties can translate into faster, fairer access to orphan medicines for those who need them most. These are exceptionally important to me, to my department, and I know to every person in this house. I am very, very conscious of the advocacy of individuals and families whose lives have been affected by rare diseases, and some of those have been very topical and in the news because of European Medicine Agency approval for certain drugs. So many of those drugs are not available right across Europe at the moment, and it is very much a country-by-country experience at the moment. I'm conscious in particular of those people whose lives are affected by Friedrich's ataxia, a rare genetic neurological condition. I know that many deputies may raise access to this condition today, and I want to respond carefully and respectfully. I did meet many of the families, many of the people suffering from Friedrich's ataxia, both privately and in the AV room briefing, and I was very glad to have the opportunity to meet those patients, as I have had the opportunity to meet other patients. Skyclaris has been authorized at European level for Friedrich's ataxia. In Ireland, as with other medicines, any decision on reimbursement must follow the statutory pricing and reimbursement process that I've just described. The National Centre for Pharmaeconomics carried out a rapid review and recommended a full health technology assessment to consider the clinical effectiveness and cost-effectiveness of the medicine. That application remains under active consideration by the HSE, and the discussions and the information received, the timing, all of that I know is of real interest. Of course it is, to all of the patients and their families. And again, I would reference my earlier comments about the need for both parties to be providing all of the information that's relevant at an early stage. The application remains under active considerations, and I cannot discuss commercial negotiations which are confidential to the state and would prejudice all of us were I to do so. So please forgive me that I'm not able to go further in my remarks than this. So I do want to emphasize, as Minister for Health, I don't have a role in pricing and reimbursement decisions necessarily. We have created our political institutions as being robust and independent. We have given protection to scientists making these decisions in our collective interest. We have increased access to medicines because of the processes that we have put our confidence in. And that is going to generate many good days, and that may also generate difficult days. But we have to continue to believe in a system, I believe, that is based on science and has served us well so far. But I do, the decisions are made by the HSE under the 2013 Act that you're familiar with, driven by clinical, economic, and other relevant considerations, and no decision yet has been made on SkyClaris. I do really understand, for families, this sort of process language can feel very distant from the reality of living with a progressive condition. I also understand the frustration when a medicine has been authorized at European level but not yet completed national reimbursement process. And I've discussed this with my colleagues in Luxembourg just on Tuesday of this week about the difficulties that many countries, particularly small countries, are facing in this regard. This is not a drug that is authorized right across or available right across the EU, it is different in every country. But the issue more broadly about access to drugs, about companies making applications for drugs that have been approved by the EMA, and to be able to be the sort of market that can attract applications and fund them, is something that is really difficult for many of us. I still feel that many of the European countries are working not against each other, deliberately not against each other as such, but in a vacuum of information that, because of the confidential pricing structure, that in many cases gives all of the information to the company and not to the European states who might work better in partnership, and this is something that we really need to reflect upon. Authorization, as I said, and reimbursement are at different stages right across Europe in relation to this medication and also other medications. I have asked my officials to continue to engage very closely with the HSE on the progression of all rare diseases medicines through the reimbursement pathway while respecting the statutory independence of the HSE's decision-making process and protecting the independence of the scientists involved. I do fully understand the extreme difficulty for families in relation to this. That is why the wider Programme for Government commits on orphan medicines, reimbursement timelines and early access. That's why those commitments are so important. It has to be to improve access responsibly, fairly and transparently while ensuring that decisions are still evidence-based, science-based and sustainable for the health service as a whole. We are beginning, though, to see tangible progress in individual conditions, and one example is Duchenne muscular dystrophy, a rare, progressive and life-limiting condition that affects boys and young men for which families have advocated and, again, I'm so pleased to have the opportunity to meet some of the patients and families who were waiting for a reimbursement decision following an EMA approval last June. I am pleased to say that the medicine Juvenistat has now been recently recommended for reimbursement by the HSE's drug group and has now been approved by the HSE's senior leadership team just this week. It represents a positive step forward, not only for those directly affected but also for what it demonstrates more broadly. I really do want to thank the HSE for the speed with which they acted in relation to this, both at HTA level, the rapid review level, at every stage of this process, where the decision was with the HSE or where the process was with the HSE, they acted with real speed. And, again, I would speak to the need for, you know, this was in order to get this application made in Ireland, I had to ask the Italian health minister not once but twice to encourage the Italian company to make the application in Ireland, the Taoiseach had to ask Prime Minister Maloney to encourage the Italian company to make the application in Ireland. What I'm saying is real, it's a real barrier and we are trying to do our best within it. So I hope that that is reflected, honestly, to patients both with Juvenistat but also with the current other medication with Skyclaris, the genuine efforts that we are making, trying to make within the constraints of people, of companies making applications within Ireland. But it does show what the drive and resolve of the HSE in terms of making these decisions very quickly and not adding to the time that it takes to get access to important medicines. I do want to just reflect, though, that we are seeing important developments at European level that will help shape access to medicines for people with diseases, but rare diseases in particular. The reform of the EU pharmaceutical legislation, often referred to as the EU pharma package, is the most significant overhaul of the sector in 20 years and it really has a clear focus on access to safe, effective, affordable medicines and we are trying, as I said to you, to actively see how do we partner with other Member States to make us a more attractive market for pharmaceutical companies for new and innovative drugs. For orphan medicines, we are trying to strengthen incentives for innovation while encouraging faster and more consistent availability of treatments. That complements wider European work on critical medicines, biotechnology, life sciences and clinical trials, reinforces our own national efforts. Of course, with the European Presidency, I will be President of the European Health Council and we, Ireland, will hold the pen in relation to making as much progress with medical devices regulations but biotechnology, the Biotechnology Act, as possible, as well as progressing the trilogues with the European Parliament on the Biotech Directive. I've just come with Peter Burke from four hours this morning with the life sciences pharmaceutical sector to work out how we can do better about bringing the innovation that is developed in Ireland to patients in Ireland through the life sciences strategy and other ways and we really are trying but it is important that people understand that by virtue of our small market size, Ireland is not always prioritised by pharmaceutical companies in launching new medicines and we do benefit from working with like-minded states such as the Beneluxa Initiative. This now plays a role in Member States' shared priority of securing access to high-cost innovative treatments in an affordable way while respecting the national competences in relation to pricing and reimbursement. We really have been working closely in the initiative on horizon scanning, health technology assessments, information sharing, policy exchanges but I do think that there is a great deal more that we can do in streamlining European processes. We have had some success through the Beneluxa Initiative already made for the reimbursement of, I'm sorry I just can't pronounce this, Libmeldi, I'm sorry that word is too hard. We will continue to progress that. I do want to speak to, we can speak later to research but look internationally this is a day that this is increasingly recognised as a core health policy. We have had the World Health Assembly adopted its first ever resolution on rare diseases in 2025. Ireland is supportive of that. We do need a much stronger European environment drawing together all of the different aspects of the EU health and life sciences plan. This can help us get drugs to people who need it but again I started with people and I want to end in the last few seconds with people. We are, and all of my officials, all of the people in the HSE, are all just people as well, cognisant of the impact of the decisions and the access and the speed with which we work on the lives of people with rare diseases and we are here to try to do everything we can to maintain our science and sustainability based system and to deliver for the people whom we know need the help that we can try to get them. Thank you.