Rare Diseases: Discussion

I welcome the witnesses to our meeting. They will present on their concerns about improving the lives of those affected by rare diseases and their families. We are joined by Ms Vicky McGrath, CEO, Rare Diseases Ireland; Ms Avril Daly, CEO, Retina International, and vice president, EURORDIS - Rare Diseases Europe; and Dr. Sally Ann Lynch, consultant clinical geneticist, Children's Health Ireland, Crumlin hospital.

Before we hear their opening statement, I need to point out to them that there is uncertainty as to whether parliamentary privilege will apply to their evidence if given from a location outside of the parliamentary precincts of Leinster House. Therefore, if I direct a witness to cease giving evidence relating to a particular matter, the witness must respect that direction.

I call Ms McGrath to make her opening remarks. She has five minutes to do so and she is very welcome.

Ms Vicky McGrath

I am the CEO of Rare Diseases Ireland. We are the national alliance for voluntary, patient-led organisations for people affected by or at risk of developing rare diseases. Our vision at RDI is equitable access to diagnosis, treatment, health, social care and opportunity. I thank all members very much for the opportunity to speak to them on the topic of improving the lives of those affected by rare diseases and their families. I am joined by Dr. Sally Ann Lynch, consultant clinical geneticist at Children's Health Ireland, Crumlin, and Ms Avril Daly, CEO of Retina International and vice president at EURORDIS - Rare Diseases Europe. Ms Daly also has first-hand experience of living with a rare condition.

The challenges of living with a rare condition are acknowledged in the programme for Government, published in June 2020:

[M]any rare conditions are complex, and their impacts are severe on the patients living with them. At times, it can be difficult to access appropriate medications and technology.

Today we are asking for the committee's support to press for delivery on the promises made to the rare disease community in the programme for Government, in particular those promises relating to genetics and genomics and an updated national rare diseases plan. Almost one year on from its publication, there has been no progress on these promises. As a priority, we must see allocation of resources at the Department of Health to bring leadership and accountability to these commitments.

Before proceeding any further, however, let me provide some background data on rare diseases in Ireland. A rare disease is defined as a condition that affects less than one in every 2,000 people. This is the definition used in Europe. There are more than 6,000 individual rare diseases that we know of, with more being described daily. It is estimated that 300,000 people are living with rare conditions in Ireland - 300,000 people, individually rare but collectively common. This compares with 170,000 people living with or recovered from cancer. A total of 300,000 people living with a rare condition amount to a little over 6% of the population. More than one in every 20 people in Ireland is living with a rare condition, with 4% of children receiving a diagnosis of a rare condition by the time they reach 16 years of age. Let us consider that of the 61,500 18-year-olds in their leaving certificate year this year, 2,500 have been diagnosed with a rare condition. Paediatric rare conditions have an enormous impact with 58.6% of deaths in those under the age of 16 are due to an underlying rare condition.

Rare conditions are characterised by a wide diversity of symptoms and signs that vary not only from condition to condition but also from person to person with the same condition. They are chronic, progressive, degenerative and often life-threatening. While many people with rare conditions live with disabilities such as motor, sensory or intellectual impairments, others show no visible external signs that they are living with a rare condition. In many cases, however, the burden of living with an invisible rare condition is as challenging as the burden faced by those with visible disabilities. Planning and managing care and medical appointments, managing household chores, accessing education and employment opportunities, social interaction and building relationships are all challenges for people living with rare conditions.

People living with rare conditions are often described as having complex medical needs. Complex medical needs are not an excuse for poor and disorganised provision of care and support. Complex medical needs are the challenges that are driving enormous innovation in this area today. Be it whole genome sequencing, orphan medicines, gene therapies, digital living spaces or artificial intelligence, much innovative work is being undertaken today across the globe to address the needs of the rare community. One might think that Ireland should be a global leader in this space. After all, we have a huge industrial footprint in pharma, medtech and ICT. Innovation in the rare disease area is not just about therapies and treatments; innovation is also about how and where care is delivered, and pooling resources across Europe to ensure the best outcomes for all citizens of the EU living with rare conditions. As citizens of not just Ireland but also the EU, is it unreasonable for us to expect to have access to the same care, treatment and opportunities as our fellow EU citizens in countries such as France, Germany and Denmark?

The national rare disease plan, originally published in 2014, must be updated and overhauled to account of the transformations that have taken place in rare disease care and delivery over the past eight to ten years. The revised plan must also take account of Sláintecare, a transformation programme that was not even under consideration in 2014. As a matter of urgency, we are seeking a commitment from the Department of Health to prioritise people living with rare conditions as we emerge from the coronavirus pandemic. People living with rare conditions deserve to benefit from the enhancements in community care spoken of in Sláintecare. It is no longer acceptable to think that the rare community can wait. There are 300,000 people living with rare conditions who must be prioritised. If we can build a healthcare system that meets the needs of the most vulnerable in our society, it will be a system that meets the needs of everyone in the country.

One of the greatest challenges for people living with a rare condition in Ireland today is the diagnostic journey. Diagnosis is often delayed for many years and involves multiple specialists.

The diagnostic journey is associated with significant hardship for patients and families alike, with unnecessary appointments, referrals, tests and interventions, loss of income and education or career prospects and delayed opportunities for the correct treatment. Would we accept delayed diagnosis and treatment in other specialties? We all know what a delayed diagnosis for cancer patients means, yet it is accepted as normal for a rare diagnosis to take several years.

Some 72% of rare conditions are genetic in origin. Genetic testing, genetic consultation and genetic counselling are thus the fundamental building blocks for diagnoses of rare conditions. In spite of this, in Ireland, we have a hugely underresourced genetics infrastructure. The clinical genetics service in Children’s Health Ireland, CHI, at Crumlin provides a diagnostic, counselling and clinical genetic testing service for children and adults affected by or at risk of a genetic condition. The service is the sole provider of general genetic service to the population of Ireland. The service cares for and manages families with genetic conditions.

The HSE’s review of the clinical genetics medical workforce in Ireland, published in 2019, reveals that there is a lack of a co-ordinated genetic testing service in Ireland, due primarily to funding issues. There has been no significant investment in the service in the intervening period. Lack of a co-ordinated genetic testing service has led to poor practice in terms of testing requests and also poor-quality foreign laboratories handling Irish samples. There is an inherent risk in this. Additionally, some people, including those without symptoms, have taken it upon themselves to have testing conducted at private laboratory facilities, sometimes without even a referral from their own doctors. They are desperate to understand what the future may hold for them.

With normal attrition due to retirement and sick leave and difficulties attracting and hiring qualified personnel, there are currently just three genetic consultants in position in CHI at Crumlin. The HSE’s 2019 review indicates that there should be 15. The most visible knock-on effect is growing waiting lists. As of March 2021, there were 3,999 people on the waiting lists for clinical medical genetics, up from 3,052 just one year earlier. Of these, 1,392 are children under the age of 16. Typically, the priority waiting list is between 15 and 18 months. Routine referrals wait over two years to be seen. As of March, there were 941 people on the waiting list for over 18 months, of which 657 were under the age of 16. Our health service is failing the children of Ireland.

Genetic counsellors see patients with known genetic disorders, under the direction of a genetic consultant. The British Clinical Genetics Society, CGS, recommends eight genetic counsellors per 1 million of population. The department of clinical genetics in CHI at Crumlin currently has approximately six whole-time equivalent genetic counsellors for the entire population of Ireland. We cannot over-emphasise the critical need for genetic services in Ireland. Day-to-day management of people living with rare conditions, and the health system as a whole, would benefit from early accurate diagnosis. There are huge risks in the current system. People are sitting on waiting lists unnecessarily as they seek a diagnosis. There is a potential for unqualified personnel to provide diagnoses and treatment based upon difficult to interpret results, and patients taking matters into their own hands seeking testing and diagnosis outside of the normal healthcare environment. There are also enormous opportunities being missed. People living with rare conditions are missing out on early access to new therapies and potentially on enrolment in clinical trials for novel therapies.

In the short term we must think creatively about addressing some of the bottlenecks that exist in genetic services today, with a view to building a best-in-class, robust genetics service for future generations. Genetics are not just the future of healthcare, they are here now. We need genetic services today that will allow the Irish people to benefit from innovations that are with us now and that prepare us for those that will be with us in the years ahead.

In summary, we are asking for your support today to ensure that the Government delivers on its promises in the programme for Government. The very first step, we believe, is allocation of resources at the Department of Health to bring leadership and accountability, to update and develop a new national rare disease plan for Ireland and the delivery of world-class genetic and genomic services. In the past, we have seen the Department of Health provide the leadership necessary to deliver on cancer strategies and plans for the country. It is not unreasonable to expect a similar commitment to the 300,000 people living with rare conditions and their families and friends.

I thank the witness. I call first on Deputy Durkan, who has ten minutes.

I thank the witness for her presentation. It is stark and alarming, as it should be, because it brings to our attention in sharp focus the ever-growing, pressing need for investment in that area. Can I ask the opinion of Rare Diseases Ireland? To my mind, it looks as if a centre of excellence is required to deal with this particular issue. Laboratory facilities should be available here, rather than referring them overseas, with consequent delays. What is their preferred option in that area?

Ms Vicky McGrath

A centre of excellence is certainly one of the models to which we would look. We are open to how this will be addressed. Clearly, there is a shortage of genetic consultants and counsellors on a global basis. We may, therefore, need joined-up thinking around how we can get access to the services that we need, and to the people that we need. One of the options that should be on the table, as far as we are concerned, is some type of cross-Border initiative. There are many more genetic consultants and counsellors in Northern Ireland than there are in the Republic of Ireland. This could be a way of shortcutting, particularly through waiting lists, and building a system that works for everybody on the island.

Why have they so many more people involved in the area? Obviously, we have not kept pace with them. Is there any particular reason? Have they been more advanced in their research, genetics and so on and so forth? Is that traditional or is it something that has emerged over the past number of years?

Ms Vicky McGrath

It has emerged over the last number of years. They have put in place the 100,000 Genomes Project, which is a strategy and plan to screen for genetic conditions in the UK. That is delivering for them. They recognise the need for geneticists and have built the infrastructure. They have been building it over the last number of years. That infrastructure has carried over to all of the nations in the United Kingdom. It is just something that we are clearly lacking in this country.

What are the things that we need to avail of------

Excuse me, Deputy, Dr. Lynch would like to come in on your last question.

Dr. Sally Ann Lynch

With regards to why Northern Ireland has more, it is important to acknowledge that it set up a training scheme and really supported it for clinical geneticists. All the geneticists that work up there trained in Northern Ireland, because it is extremely difficult to recruit from abroad. I set up the training scheme in the Republic, but I was blocked by the Medical Practitioners Act 2007 for about seven years. We were not allowed set up anything new. That has had a knock-on effect. Our training was hugely delayed. In the end, it was delayed by a decade. We are getting a new person in July to start training. However, there have been so few, it is so difficult to recruit from abroad, and there is an ageing consultant workforce, so it is currently a critical issue.

What about the European focus? To what extent has Rare Diseases Ireland or CHI at Crumlin liaised with the rest of Europe, with a view to co-ordinating our efforts? This goes back to the Single Market. I have always held the view that we are part of Europe. We are, therefore, entitled to the same services as those available in the rest of Europe at the same time, not some years later. Therefore, how do the witnesses think we will gain from the close association with Europe, and is it likely to happen?

Dr. Sally Ann Lynch

I have published a paper on inequity across Europe. Ireland does poorly in comparison with other EU countries. We are members of the European Society of Human Genetics, ESHG. Ms Daly can discuss this from the Eurordis point of view. They will say that it is up to Ireland and the Department of Health to provide for its citizens. We cannot, therefore, expect Europe to mop up what is our responsibility.

However, if we want to develop a strategy, would it not be beneficial to have the full support of our European colleagues? Like Ireland, the rest of Europe is also entitled to the best available practice in dealing with rare diseases.

Dr. Sally Ann Lynch

That is already in place. There are developments of European reference networks. There are many different centres of excellence, including our own, which are trying to join different European reference networks.

There is a lot of work on this area in Europe. It is very difficult for us to give as good a service to Irish patients compared to the Netherlands. It is probably the best example I can give. The Netherlands, Belgium, Finland and Sweden have very good infrastructure but we just have not invested in it. There are lots of initiatives across Europe that we are trying to aspire to be as good as, but it is extremely difficult when the interest or the focus is not there.

Ms Avril Daly

It is a very important point that has been raised. The reality is that we have 6,000 different rare diseases and one country is not going to solve the problem. Over the past 30 years European action has led to the development of the first national plan. We had the European Commission call in 2009, which led to the development of national plans for rare diseases. A lot of work started on that 13 years ago, so one can imagine that in such a dynamic area things have moved on enormously. What has happened recently is that over the years we have developed expertise not only in the patient community but also in clinical research and among policymakers to look at what has happened previously in rare diseases and what is about to happen.

The European Commission initiated a foresight study two years ago called Rare 2030 to look at what are going to be the necessary actions for the rare diseases community in Europe in the next ten years. We had 200 experts across Europe working very hard on this. We had some representatives from Ireland involved. There are eight sensible recommendations to look at developing a framework for rare diseases not only in Europe but in each member state. They are very simple recommendations. The first is to develop a new policy framework that will guide us in the implementation of rare disease strategies. The second is to look at earlier, faster and more accurate diagnoses for rare diseases, which remains one of the most critical challenges for patients and healthcare providers across Europe. The third recommendation looks at a highly specialised healthcare ecosystem looking at the issue of financial and technical support at European and national levels that leaves no person with a rare disease behind. Recommendation 4 looks at the guaranteed integration of people living with rare diseases into society. Recommendation 5 looks at a culture of encouraging meaningful participation and engagement and leadership of people with a rare disease both in the public and private sectors. Recommendation 6 looks at rare disease research maintenance as a priority for innovation across Europe. This is something that we can add to in Ireland because we have significant expertise in research and development. Recommendation 7 also looks at the issue of data and using data to their maximum to improve the health and well-being of people living with a rare disease in Europe. Recommendation 8 looks to improve the availability, accessibility and affordability of rare disease treatment by attracting investment, fostering innovation and collaboration across countries to address the inequalities.

Members can see these are very sensible approaches but, as Ms McGrath stated earlier, we must have proper genetic services or a situation where patients can access genetic testing, which is fundamental not only in the delivery of care for patients who have genetic disease but also leads to innovation because if one has a genetic test one can get on a register and then it can improve access to clinical trials. One can improve the outcome of clinical trials by monitoring patients and their gene, how it manifests and keeping records of that and understanding how one can improve patient-reported outcome measures. Ultimately, that creates the infrastructure to deliver innovative genetic and cell therapies that are curative in many cases so we can eliminate the disease. It all starts at the very beginning. There is a process to all of this and without the basics in care and diagnosis we cannot have that innovation.

With regard to a centre of expertise, in fact, we do have a lot of the expertise, but we are missing the infrastructure. That is really critical. One cannot have one without the other. As sensible as these recommendations are, without the basics and the basic understanding of rare diseases and genetics and where genetics play such a critical part in society, we will not be able to address this framework in Ireland.

I am not sure who wants to take the first question, but it relates to waiting lists and backlogs of people who might be seeking a diagnosis for a rare disease. What type of waiting list or backlogs are we faced with? Perhaps Ms Daly could respond.

Ms Avril Daly

Dr. Lynch had some very good data on waiting lists.

Dr. Sally Ann Lynch

Unfortunately, we have approximately 1,800 people waiting. It will be more than that because the IT systems are down at the moment. Approximately 1,900 are waiting to see a consultant and another 800 or 900 are waiting to see genetic counsellors. The genetic counsellor waiting list is better than the consultant waiting list. We do have some patients waiting up to three years, which is shocking. We spend our time trying to validate the waiting lists. We get 3,900 or so referrals per year but we also know that is less than half of the equivalent NHS service. I did a publication with Belfast, Edinburgh, Glasgow, Manchester, and Cardiff two years ago and they were getting an average of two referrals per 1,000 people per year whereas we are only getting 0.84. The reason we are getting that is because we put up road blocks to try to manage our waiting lists. We no longer see people with this, that or the other. We try to get the common genetic diseases managed by other specialists. It is quite difficult to get on our waiting list. We have to be really strict about it because if the waiting list gets to be so bad it is just unmanageable, and it becomes a risk in itself. It is difficult to get to see us in the first place and we are not providing a service compared to our NHS colleagues. We keep doing our best. We deal with 6% to 7% by information letter as opposed to appointments. We are trying to be innovative in that way and with Covid many consultations now are on the telephone or via video. That is working quite well. We spend our time doing capacity plans and trying to ameliorate the issues, but it is impossible.

One of my three colleagues came back from a unit where the population was fewer than 3 million and there were 12 consultants. She has had a baptism of fire where we are just trying to put out fires all the time, as it were, because the risks are so huge and there are so few of us. It is very difficult to forward plan. We do not have the time to do that. We are considered a centre of expertise. We do annual clinical quality assessments, which we always do well at. The tiny number of us who are there do our best to maintain the quality and we participate in the clinical quality assessments within Europe, and Britain is part of it too. We try to keep up to international standards, but it is just not possible to do what my colleagues in the NHS are doing because there are five of them compared to one of me.

Ms Daly mentioned the need for more holistic genetic services and having a clear pathway from testing right through to therapy. What I think she was saying is that we need to have access to genetic testing and that, in turn, can lead to clinical trials, which, in turn, can lead to therapies and treatments. That plays a major role in relation to not just the diagnosis but also the treatments at the end of the process and obviously we must have all of that right. I want to ask what happens when somebody is diagnosed. It is unacceptable that in some cases people are waiting for more than three years.

There is a need for additional capacity, whether that is in the form of consultants or otherwise, and we can have a look at that. Our guests might send some recommendations to the committee on how we can improve diagnostics in this area and where the shortcomings are.

What sort of care pathways are in place from diagnosis to treatment? Where are the challenges in that area for patients who have been diagnosed?

Ms Avril Daly

To take the example of my own circumstances, I have received a genetic test. I was diagnosed with an inherited retinal degeneration, a rare form of sight loss, in 1998, when I was 23 years old. I knew at that point that it was genetic in origin and that I probably had a recessive condition, meaning it had skipped a generation and popped up in me. I did not know how the condition was going to progress, because no one else in my family had it, but I knew there were 300 different gene types, so I had to have a genetic test to understand mine.

In 2017, I received a genetic test and a diagnosis through Target 5000, a genetic testing and research study funded by a small Irish charity called Fighting Blindness. This was undertaken by its clinical and research partners at Trinity College Dublin and the Mater Hospital. I was able to understand my prognosis because of that diagnosis. I was able to be told what research was being conducted on my gene and I could contribute to the research effort, not only nationally but globally if I wanted to go on a register, which I did. Moreover, if a clinical trial arrived, I knew they would know where to find me. A genetic counsellor explained to me on the day of my diagnosis that I did not have a recessive gene but rather a de novo gene, meaning it had started in me. I cannot begin to explain the relief that gave me to know it was not going to affect me or my family. I knew I had a mild disease and it could be managed, and I was given a care plan by my consultant at the Mater. That is critical. In the absence of treatment, a care pathway is incredibly important.

This is all very actionable stuff. It should not be incumbent on a small Irish charity to develop a world-class service such as this simply because it can and it has the ability to fundraise for it. There are patients living in this country, and parents with children with life-limiting diseases, who cannot set up a charity to fundraise to get access to these genetic therapies and all the processes involved. They are finding out, if they ever do, much too late that their child could have been part of a clinical trial. They are missing life-changing and potentially life-saving treatments. I got a genetic test after 20 years through a charity. Care pathways are sensible and very possible to provide.

Finally, will our guests comment on the importance of genome sequencing and the role it plays in rare diseases? Separately, if they were devising a new rare diseases plan or strategy, what would be their priorities?

Ms Vicky McGrath

I might come in on the plan or strategy and ask Dr. Lynch to respond to the genome sequencing question. In any plan or strategy, we need to look at the person in his or her entirety. We developed a plan in 2014 that looked just at the health aspects. It is clear from what Ms Daly said that the impact is on the entire person and his or her family. It is not just about the medical needs of the individual but also about his or her ability to partake in education and employment and live independently. We need a plan, therefore, that encompasses all these elements of the person.

Ms Daly eloquently provided details from the European study, Rare 2030, which is looking forward to 2030 and considering the priorities. None of those priorities has been resolved in this country, and that is where we need to go. We need to look at the entire system and how we can integrate with Europe and develop a system that meets the needs of the entire rare disease person, not just his or her health needs.

Dr. Sally Ann Lynch

On genome sequencing, the new diagnostic tests are fantastic but they come with a caveat. I will outline some numbers for the committee. Everyone listening to the debate is a human being. All of us have 4 billion to 5 billion letters in our genome, but each of us has between 2 million and 3 million changes in our DNA compared with that of the average human being. That is important to note because people can find it difficult to analyse DNA sequences. All of us have so many changes in our DNA that when we see a change, it can be difficult to work out whether the change is causing the disease or whether it is a benign finding.

There are risks of misinterpretation of the DNA that are known about internationally and cause those of us working in this field a great deal of anxiety, with much of our time spent analysing reports and ensuring we are giving the patient the correct diagnosis. As one can imagine, if we were putting Ms Daly, for example, in a clinical trial, we would have to ensure it was the correct clinical trial and the correct diagnosis.

Medicolegally, there have been cases in Norway where women were told they had a breast cancer gene. Subsequently, data emerged that suggested the change in the genes was not causing breast cancer, but people had gone for prophylactic surgery unnecessarily.

Genome technology is fantastic and helps make diagnoses, but because so much of our DNA is different from that of the "normal human", it takes a long time and it is important to have the correct structures in place in a country to ensure there is safety over the interpretation of the tests and the wrong diagnosis is not made.

I thank our guests for their fascinating contributions. In the absence of comprehensive genetic testing, how can we sure about the number of rare diseases? It might sound like a stupid question but surely there could be many more such diseases than our guests have outlined.

Ms Vicky McGrath

Is the Deputy talking about the figure of 300,000 and the fact that there are potentially many more people in the country with rare conditions?

Ms Vicky McGrath

We take that figure from data from throughout Europe. A system in Europe called Orphanet provides information and collects all the data throughout Europe on the incidence and prevalence of various conditions. We take that figure as the average from a European standpoint, which is between 6% and 8%, and we have lobbed ourselves towards the lower end.

Realistically, all conditions will become rare conditions in the long run as a further understanding of how genes play a role in different "common" conditions is elucidated in future. We no longer talk about cancer, for example, but rather cancer of different organs and specific types of cancer, such as the BRCA mutation and so on. Slowly but surely, our understanding of conditions will build. The definition of rare conditions as those whose incidence we describe as occurring in fewer than one in 2,000 people is just a benchmark. It is a line in the sand that we use to try to understand how many people are living with rare conditions and what is going on with them.

How could the Government best harness the combined talents of the pharmaceutical and technology sectors in Ireland to assist in this space?

Ms Vicky McGrath

Once a very good genetic screening or testing system has been established, the next step would involve getting registries in place.

This is where the technology and pharmaceutical sectors can come together and help us to build these types of systems. Clearly, we are all a little bit wary of electronic information and electronic data at present but it is the future and we cannot pretend it is not going to happen. We have to persist with it. This will then allow us to understand where people are living and what opportunities might be available for people with various rare conditions and genetic diagnoses. We rely on the pharmaceutical industry. Even today, the pharmaceutical sector in particularly has been quite involved in establishing some of the registries we have in the country. It does follow-on testing and in phase 4, once a product has been approved, they monitor patients on an ongoing basis. It is happening today in a very piecemeal fashion in this country. It is about getting joined-up thinking. This is where a rare disease plan would give us an opportunity to provide this joined up thinking and put it all together to make sure we all benefit from the resources, knowledge, skills and expertise available in the country.

Ms Avril Daly

If we are going to talk about innovation, it is very important to understand that pharmaceutical companies will become cell and gene therapy companies within the next ten years. This is the way it is going and moving. It is critical for us to get our house in order for this. It will require a little bit of joined-up thinking in interdepartmental work. We can send the committee some interesting examples from other European countries with similar demographics and population sizes. The FinnGen project in Finland is interesting. It looks at how Finland has approached this with similar pockets of population in an urban centre and disparate populations externally. It was able to put together an impressive system by having healthcare work not only with departments of innovation but also with social care across the board. It is set up because of this. It is a good model and there are good models throughout Europe we can certainly look to.

I thank the witnesses for their presentations. Ms McGrath spoke about the need for a comprehensive plan and wraparound services to address all of a person's needs. What is the number one ask at this point from the Department of Health or the Minister? Is it full implementation of the 2014 plan or a new plan? What engagement has she had with either the Minister or departmental officials?

Ms Vicky McGrath

The 2014 to 2018 plan was assessed by the Department in 2019. Publication of the outcomes of the assessment would be helpful to understand where we are today and where the gaps lie in the existing plan. Realistically, if we are going to take the whole person we need to look at a major overhaul of the existing plan. We also need to do a major overhaul of the existing plan to account for the innovation that has happened in the intervening period.

From our perspective, a group of us met the Minister at the end of March and a commitment was given that somebody would be identified in the Department to take the lead on this. We still have not heard anything in this regard. It is a starting point. We need somebody who will take ownership and leadership of this. This is not going to happen outside of the Department or the health service. We need all players in the room, and to do this we need somebody to take the lead. To be blunt, at present Rare Diseases Ireland is just me part time. I do not have the resources to take the lead on this. I would love to say that patients will grab it and push it forward but we just do not have the resources. We need the resources brought to bear on this.

As I said in my opening statement, we have seen where leadership from the Department in other areas has led to change, improved outcomes and the provision of better services and we are looking for something similar. We need to take this on at political, leadership and policy level and drive the changes that are needed. It is only with this do we feel we will reach the goals of Rare 2030 and there is joined-up thinking across the board.

To clarify, the 2014 to 2018 plan was reviewed but Ms McGrath has not seen the review.

Ms Vicky McGrath

No, we had one meeting with the Department. We used to have regular meetings with the Department but the person assigned to undertake the review was moved on to other areas in the Department and is no longer our primary contact point. We know the review was conducted but we have never seen a detailed report or output from the review to understand where the Department sees the gaps and where we might see the gaps.

This is certainly an area in which the committee can have a role with regard to making contact with the Department, which we can discuss later. With regard to the shocking waiting lists that Ms McGrath has quoted, are they for public health services? Is there a private health service aspect to this? Is the problem that we do not have qualified people providing public or private services?

Dr. Sally Ann Lynch

I can answer this. With regard to private services, there is somebody who works in the public sector who does cancer genetics privately in the Hermitage Medical Clinic. The person was in the Blackrock Clinic but is not there any more. I am not too sure whether the person is in the Mater Private Hospital. We believe somebody will start doing clinical genetics privately in Blackrock in June. Apart from this, if people want clinical genetics for rare diseases, it is in the public domain. The three of us working in it do not do private practice. I do not do private practice and neither do my two colleagues. There really is nowhere people can go. They can try the treatment abroad scheme or cross-border care but it is very difficult for people who have disabled children to try to travel, never mind with Covid. We are more than happy for them to travel because the waiting lists are unacceptable. There is not huge provision. Because each case is so complex we cannot turn over patients quickly. They need the time. When the private provider starts up in Blackrock, I do not know how much he will be able to mop up.

I am curious to know whether we are training enough counsellors and consultants in this area. If the Department were to say in the morning it would approve X number of posts are those people available here? Would we be speaking about going abroad to source people?

Dr. Sally Ann Lynch

No, they are not available here. We do not train up genetic counsellors. There is no training programme in Ireland for genetic counsellors although we can access those trained in the UK or elsewhere. With regard to consultants it is very difficult. We are trying to get locums. I have been emailing every contact throughout Europe, Australia, the US and Canada. I have been emailing anybody I know from meetings. We really struggle to get anybody. Language is a barrier in Europe. Many people who have the same training as me and who have good English would feel uncomfortable trying to discuss things with patients. People need a command of English that makes them very comfortable in these circumstances.

This morning, I have been emailing human resources in Crumlin because the chair of the British Society for Genetic Medicine has offered to put an advertisement for another locum on its website. We are desperate. They are just not in Ireland, forget it. This is why linking with Northern Ireland is so important. We must remember that every one of the six geneticists in Northern Ireland trained there. This is why it has six. We did not train because it is an enormous effort to set up a training scheme and it is slow because it takes four years to train. We have trained three. One remains abroad and one is coming back to Holles Street so there might be a fourth person by the end of the year. It is very difficult to recruit.

I thank the witnesses.

I thank the witnesses for coming before the committee.

It is incredibly distressing to hear about the reality of conditions for the 300,000 people living with rare conditions, and their access, or lack thereof, to essential services and supports. We know there are major shortcomings in our health system. The witnesses have touched on this, but in what ways has the Covid crisis affected not only delivery of care and services for patients with rare conditions but also genetic testing? The witnesses' statement referenced an exhausted and under-resourced system.

It was mentioned that despite the HSE indicating there should be 15, only three genetic consultants are in Crumlin. Crumlin is the sole provider of genetic testing and consultation in the country. It sounds like the Government failed to ring-fence money for genetic services. Is it due to internal disorganisation that our health system fails to recognise the importance of such services for rare conditions? It goes without saying the committee should write to the Department to flag this fatal shortcoming in our health system and demand we address and respond to it urgently.

Ms Vicky McGrath

I might jump in. Dr. Lynch might speak a little about genetic issues specifically and the impact of coronavirus on genetic services. We conducted a study last year on coronavirus and its impact on patients. It was mind-boggling. A person living with a rare condition might be the only one in the country with it, so there is a lack of knowledge about different rare conditions. It is not the fault of any particular consultant or doctor. It is just the nature of rare conditions. They are complex and not many people have them so it is very difficult to have a full understanding. When coronavirus arrived, patients worried about their underlying rare condition now had an unknown virus lumped in on top of them. It was terrifying them. Many people cocooned of their own volition. They were not asked by the Department or the public health system to cocoon but were doing it of their volition as they were so scared and worried.

Things have now moved on. We have moved into the world of vaccinations. After much lobbying from various patient organisations in the country, some changes were made to the prioritisation and many people with rare conditions were moved right up the list. There is still much concern for people, and families, with young children who are living with rare conditions. We have previously asked for carers to be prioritised. At this stage, the vaccination is rolling out so we hope that people will remain safe and people with vulnerable children will feel safe over the weeks ahead. It has been hugely impactful, psychologically.

Regarding services, many of those people have missed out on their day care and community services. People were moved into the public health system, and track and trace and so on, willy-nilly. Some of these services have still not reopened. Adults living with rare conditions, who possibly have mental health deficiencies, are still not getting their daily care services. There are families with 20- or 25-year-olds still at home wondering when they will ever get back to services. Those who are back in services are only back part time. These are people who need structure and daily routines. Many families feel they have been completely thrown under the bus. I ask Dr. Lynch to come in specifically on the genetics waiting list and coronavirus.

Dr. Sally Ann Lynch

I should first clarify that the majority of genetic testing in Ireland is not done by clinical geneticists. That is fine because there is a system called mainstreaming. When mainstreaming occurred in the NHS, major controls were put in place in terms of education and complex genetic test reports. That has not happened in Ireland. For example, when a new antenatal test was brought in by the NHS, it had approximately seven different subgroups and one major steering group before it was introduced across the NHS. That did not happen in Ireland, but the foetal medicine specialists were medically and legally obliged to offer these new tests. They were just offered without any support, or minimal support, from clinical geneticists because we do not have the capacity. There were no steering groups or subgroups, nothing. That is really where the issue is.

Many tests can be done by other specialists but they are better done in a safe, controlled environment with service level agreements with the laboratories that do them, which ends up offering cheaper tests anyway. There should also be proper consent because informed consent is meant to be taken from patients for these tests. There are significant concerns because whenever tests are brought in internationally, within Europe, all these controls will look at every single different aspect before they are offered to populations. This is so the safest test is offered in a good quality laboratory with supports when a result comes back that might be a little complex, so the patient is not left with an "Oh look, not sure what is going on here" response. Not every genetic test is clear-cut. They are not always black and white. They can be muddy shades of grey that can be very difficult to interpret.

Not everything has to be done in Ireland. Some conditions are very rare and we will probably always send some samples to a laboratory abroad that would have knowledge of a particular gene. Scientists working in laboratories also build up knowledge of their area. One very much depends on scientists in this area. Have I answered the Senator's question?

That is perfect. I thank Dr. Lynch. My time is up. I apologise but I have to leave the meeting early. I thank all our witnesses.

I want to stick to the area of testing for a moment. It is great that Ms Daly finally got her test, but I suspect that once she did, her experience was very different from that of most people. I want to unpack a little the experience of families dealing with this issue. What is the average experience in Ireland at the moment? My understanding is that when a medical professional suspects a particular diagnosis, he or she tests for it. Is that correct? Maybe that is a question for Dr. Lynch.

Dr. Sally Ann Lynch

Yes, but the testing now is broader. It was safer in olden days when a specific gene was tested for. Oftentimes, there is one different clinical picture. I will use Ms Daly as an example. She mentioned 300 different genes could explain her clinical issue so the cheapest method now is to check all of them, sometimes checking all 23,000 genes for one specific gene. Going back to what I said about how much DNA variation each of us has, the problem is if an exome test looking at just 2% of the DNA is done, each of us has 18,000 variants. We go with the European advice, which is that the genes targeted are those of interest to what the patient has and the laboratory is told to just look at that piece of DNA.

There are not enough of us to explain the European situation and the problem is the American guidelines, which are now saying to target. For example, if the eye genes for a child with an eye disorder are targeted, in America they are also obliged when doing that sort of broad test to inform the patient about alterations in certain cancer or cardiac sudden death genes. That is the American stance. The European stance is quite different. We are saying just look at the genes relating to the clinical query in the first place and do not look otherwise. I very much agree with the European stance.

Okay. Where the testing is unsuccessful in reaching a conclusion, is there a significant population of people experiencing rare diseases who are living with an incomplete diagnosis or-----

Dr. Sally Ann Lynch

Yes, for sure. It is approximately 60%. A diagnosis can probably be made in 40% of cases with the latest test. That is 40% of children with significant problems.

If one is seeing a child with a milder clinical picture, it will drop down to perhaps approximately 20%. A higher percentage will not have a diagnosis despite testing.

Okay, exactly. That is what I was trying to get to. I know they are not in place yet but I refer to access to particular registers, which may open the door to treatments or certain trials, or particularly, genetic counselling. I am mindful, particularly for families with small children, that genetic counselling often has on impact on the choices they will make, perhaps about having more children. Where there is not a full diagnosis, does that still all kick into place?

Dr. Sally Ann Lynch

One would not have access to specific treatment because one would not know the diagnosis.

Dr. Sally Ann Lynch

And one would not have access to a specific targeted test in a pregnancy. Sometimes we can give empiric recurrence risks, however. We are quite used to that. We can give what we call empiric recurrence risks to families and based on the clinical phenotype, we could give an estimate.

If something in that child could be picked up antenatally on an MRI scan of the mum, we would offer that. Very often, however, there is not anything. There are very soft markers. One could not, therefore, offer any definite test.

Do they have access to counselling?

Dr. Sally Ann Lynch

Yes, that would be me. The counselling, however, is telling someone about the empiric recurrence risk and what we can offer, and that perhaps a woman's obstetrician could do a detailed scan looking for this on the next pregnancy. If the child did not have anything structural, however, there is very little one can offer. One can just give the recurrence risk.

Where that diagnosis is not full, is whole genome sequencing offered in that case?

Dr. Sally Ann Lynch

From my point of view on the latest technology, different commercial companies will boast about how wonderful they are. I will do what is called exome sequencing, which looks at the active parts of the gene. Genome sequencing looks at the other 98%. There are huge issues with that, however. One generally gets more problems than actual diagnoses.

A recent paper suggested that if moving on to do the next test, that is, the genome sequencing, diagnoses would be picked up in 29%. There have been a flurry of letters back to the European Journal of Human Genetics, however. I had an email conversation with the editor of that journal. It caused a storm on Twitter because many other laboratories in Europe totally disagreed with this commercial company. Of course, the commercial company is looking for money. It will say that one test is negative and for someone to go on to do another test. Actually, there was no excess increase in diagnosis. I, therefore, stick with one that is safe.

I understand. I will try to get one quick question in because my time is almost up. We are talking about private companies and we have mentioned a little about the new frontier of science and medicine being genetic treatments. I know some very important work and research is being done, particularly in the area of retinal research and certainly, some treatments seem to work. That is incredibly exciting.

What are the witnesses' estimation or thoughts on how the HSE navigates new treatments, particularly in the area of genetics? What are their thoughts on the timing of when it accepts treatments and the process by which it does that? How we can encourage it?

In terms of the FinnGen project, about which Ms Daly spoke, there is a real focus on supporting and working with the biomedical community. It is an opportunity for them and for pharmaceutical companies. How could we, as a country, encourage pharmaceutical companies to develop unique treatments?

Although I am critical of it in some ways, the US has that orphan drug scenario where particular priority is given to drugs or treatments that will not necessarily impact a large portion of the community. In that area, how are those new genetic treatments navigated? How do we get them into the HSE and what is the timing of that?

Ms Avril Daly

From the perspective of treatment, and certainly with my disease in the retinal space, we are aware that our neighbours in Europe, and patients we know, are getting access to therapies that we are not now after two years. Much of the difficulty is in the data because we are dealing with small populations. We are dealing with a situation many of us are familiar with now in the context of vaccines for Covid-19. We are learning as the treatment is rolled out. We do not have the registers to monitor that, which is a challenge for the HSE. One can understand where that challenge is. We are also not sure how many people in the country can avail of this because of lack of genetic testing. There are, therefore, many problems.

It tends to go back to having the infrastructure to deliver a therapy. We talk a lot about cost and value. If we do not have the system set up, however, we are going to further delay. People's hands are tied in that sense. There are, therefore, many issues at play here. It is really going back to the fundamentals of the delivery of care for the future. As we said, the time is now. These are the challenges and big conversations need to happen. The reality is that patients engaging with this can create situations where they can provide real world evidence as to how these conditions or therapies can impact them as they go on. They have a lot of information and they need to be listened to.

Ms Vicky McGrath

Perhaps I can also jump in there. A report was published yesterday, which is conducted on an annual basis, on access to medicines. This is hot of the presses. Of the 47 orphan medicines that were approved by the European Medicines Agency, EMA, in the four years 2016 to 2019, eight of them are available in Ireland today. They are, therefore, on the reimbursement list in Ireland today. Some 96% of them are available in Germany, 85% are available in Denmark and 72% in England in the UK. In Scotland, a similar country to our own, the figure is 47%.

Our system is hindering access. I know that we talk an awful lot about reimbursements of medicines and pricing and so on. The system fundamentally does not work for orphan medicines, however. We are being left behind. Our patients are the last ones to receive these therapies in many cases. I am aware of this new retinal drug and gene therapy that is available. Children who have been diagnosed with this condition in the past year, or who will be diagnosed in the next year or two, may not have access to something that is potentially curative, and will enable them to attend school like any other child and see the blackboard, whiteboard, TV or whatever is used today.

Our system just is not fit for purpose when it comes to orphan medicines. It never has been; it is an ongoing challenge. This is where we, as a country, need far more to look to Europe. We do not have the numbers of people who are required to do all this assessment. We need to piggyback on what is happening in Europe and look at how people are doing it there. We need to be far more critical of our own systems and ask why we are denying people access to therapies that are available in different countries across Europe.

I thank Deputy Hourigan. Deputy Gino Kenny is next.

I thank everybody for their statements. It is a fascinating debate, which was prevalent in the previous Dáil with regard to access to orphan drugs, particularly scenarios where families were campaigning to get access to these transformative medications.

Other Deputies and I got to know organisations, particularly those families campaigning for the drug Kuvan to treat phenylketonuria, PKU, Orkambi for cystic fibrosis, CF, and Spinraza for spinal muscular atrophy, SMA. All these families campaigned hard, for years in some cases, in difficult circumstances. They obtained the medication eventually through much hard work and many hard years of lobbying with regard to the criteria, which are quite stringent.

It is my understanding that the National Centre for Pharmacoeconomics gave the price structure for some of these orphan drugs, which are sometimes made in Ireland. These medications can be at very high cost, however. The pharmaceutical companies probably do not see where they can make a lot of money on these cases, which they can in most instances. That needs to be looked at with regard to the cost of orphan drugs, particularly in respect of the National Centre for Pharmacoeconomics.

I am aware that many of the families stated that the criteria around the reimbursement was very protracted and went on for years in some cases. My question is underpinned by the 2013 legislation, which is the Health (Pricing and Supply of Medical Goods) Act 2013. Other members who were Deputies in the previous Dáil have said that this Act needs to be amended to be cognisant of orphan drugs that need to be accessible to those rare conditions. The narrative, which was very prevalent and true, is that these drugs were transformative. The great thing about modern medicine is that these medications can be life-changing yet, at the same time, people cannot gain access to them. I find it very difficult to comprehend that there is a medication out there that could be of great benefit but it cannot be obtained because of price. We do not live in a civilised society if a child cannot get a medication because of price. That needs to be looked at and medications like that need to be accessible. Is it any easier now to gain access to orphan drugs? My feeling is that it is not. What are our witnesses' views on the National Centre for Pharmacoeconomics’s criteria for the pricing of orphan drugs?

Ms Avril Daly

The most recent national plan for rare diseases recommended the establishment of a review committee with patients on it that would look at orphan therapies that failed the process at the drugs committee and that needed more information, where we could look, for example, at real world evidence and the reality of what it would mean to a person to get access to this therapy as opposed to not, and what the costs would be if one did not administer these therapies. Often, if someone waits a long time for these therapies to be administered because he or she is looking to alleviate cost, then this is a false economy because this patient is going through this odyssey of different types of what are perhaps often inappropriate interventions or ones that are no longer suitable for them because they are now immune to those therapies. There are many different complexities around this. I draw the attention of the Deputy in the context of again being practical about this to looking at where we can potentially work with our European partners to address an issue that is common to many countries. The eighth recommendation of the Rare 2030: Foresight in Rare Disease Policy study, states that we need to improve the three "As", availability, accessibility, and affordability, of rare disease treatments by attracting investment, fostering innovation and collaboration across countries. We are not going to solve this problem on our own and we need to work together. There are initiatives coming out of Europe and looking at this right now.

Once a therapy is approved by the EMA for safety and efficacy, it comes to 70 different agencies across Europe, including our own, where we have to reassess based on health technology and value assessments . Perhaps there are ways that we can work together with our European partners, instead of having all of these individual processes, which are very different from each other, towards having a uniform process that could allow us to get better and cheaper access to these therapies. These are incentives that we need to be involved with as a small country and from which we could benefit. It is within those recommendations and it is something that the Government very much need to review, in the context of and going back to previous points about the national plan that was published in 2014. We have moved on and we need to review these with a new lens based upon where we are right now. We are in a State where we have curative therapies for children and for adults and we are missing out.

Dr. Sally Ann Lynch

I will also give a small example, which is very important and wraps up with the issues of registries. Approximately five to six years ago a new CF drug came on the market. That new drug has ended up being cost-saving because people can attend school and work. At the time the Government bought the drug, it said that 5% of the population had the specific mutation that would allow them to be treated because the treatment is specific to a certain mutation. We did a paper last year and although the Government believed it was 5% based on UK data, in actual fact 15% of the Irish population carry that mutation. We would have done a different deal and have received a cheaper rate if we had our data. That goes back to registries. We may be talking about everything as being rare but often we find that if we simply get the data and the infrastructure to simply count and have a registry, there is a greater number of patients and we will then get a cheaper drug. There are fundamental infrastructure issues here and we could have bought that CF drug a great deal cheaper because there are 15% of people with that specific CF mutation in Ireland.

I thank Deputy Kenny and I call Deputy Burke.

I thank our guests very much for their presentations. An issue that I have had a concern about for a great number of years and which is still ongoing is the time it takes to assess orphan drugs. While the EMA is in place, it is still taking us on average more than 1,000 days before we are signing off on it here. My understanding is a report was commissioned and made available back in January 2020. It was prepared by Mazars, cost €86,000, but does not appear to have been made public and taken on board. Are the witnesses aware of the up-to-date position on this report and what are they are hearing from the Department on it? The report was about the entire HSE reimbursement system. What is the status of the report and has the Department given an indication on when it intends to deal with it at this stage?

Ms Vicky McGrath

I can speak to that for the Deputy and I thank him very much for asking. That report was commissioned in 2019 and I, along with some colleagues in other rare condition and disease organisations, met with Mazars and provided our input. The scope of the report was around how the systems are working within the HSE and the governance structures in place. None of us have had sight of the results of the report so it is difficult to determine whether any recommendations that might have been provided have been acted upon. We know that some of the personnel involved have changed in the intervening period and we do not know whether that was simply time to move on or was a recommendation from Mazars. It is quite galling to think that €80,000 plus was spent on a report-----

It was €86,000.

Ms Vicky McGrath

Yes, €86,000 and yet we do not know what recommendations were made and if changes were made. From the perspective of the patient, Ms Daly has mentioned the technology review committee where we have patient involvement in providing real lived experiences of living with rare conditions and what effect a particular therapy might have. This has greatly enhanced the role of patients in the process. There still remains what we would call the black box within the HSE. While patients are providing their expertise to the technology review committee and, more often than not, the committee is recommending reimbursement of the particular therapy, it can still take weeks, months or years for a product to come through the HSE. We do not know what is happening internally. We are not getting access and we do not see it.

On that point, I mentioned that it is now taking 1,000 days on average to sign off on quite a large number of drugs, which are for a small number of people.

How do the witnesses recommend dealing with that issue? I have been a member of the committee for several years and I recall discussing this issue with Ms Daly previously. It seems that no progress has been made on it in the past five years. What should the committee do regarding this issue?

Ms Vicky McGrath

We need to push for a risk-based assessment. As gene therapies come along, it will force us to re-evaluate how we pay for medicines and what we will pay upfront as compared with staged payments. This may be something at which we need to look across the board. We have to leverage Europe. When one considers that more than 90% of orphan drugs are available in Germany but we are down at 16% or 17%, it is absolute madness. It is very frustrating for people living in Ireland to see other EU citizens getting access to these medicines. The dominating force in the current legislation is around pricing and saving money, but one must ask on whose behalf the money is being saved. It is potentially saving the health service money but that is not of benefit to society. We can pinch pennies within the health service budget but that does not necessarily lead to better outcomes for people and families and it does not allow children to be educated properly. Many other considerations must be included in this regard. A major overhaul of the system in the short term is needed. We need to look at how other countries in Europe are doing this and what we can do. We may end up spending a bit more money in some areas but we will make savings in others. It is ludicrous that it is purely, dare I say, a black-and-white issue of money and pricing that is driving these delays in access to medicines in this country.

From a European point of view, what does Ms Daly consider should be done differently on this issue?

Ms Avril Daly

As Ms McGrath said, it is frustrating for our patients here, who are connected to patients in Europe. One must bear in mind that rare disease patients in Ireland, because of the fact they are small in number, are connected very much to their colleagues in Europe. Their frustrations are enormous. There are systems and discussions about a multiple-country approach to a health technology assessment process that would be uniform across Europe, speed things up and allow us to have our voice along with other countries, which is very important.

It goes back to the infrastructure. The infrastructure here is a problem from the very basics. We do not have the registers. There is a lot of talk about registers but there is no policy initiative stating that registers are a priority in this country. As I stated, we are relying on charitable organisations and ad hoc situations that may not be sustainable because they rely on various mechanisms to keep them funded. That really is not something that we, as a modern society, should condone. Our citizens do not deserve it. They want access to innovation and they want it quickly. The longer we delay, the more patients will develop further complications to their disease that will cost the country significantly more, so it is a completely false economy, as Ms McGrath stated.

As regards new recommendations, plans, strategies and frameworks for rare diseases, good and solid recommendations will come out of this if we all get involved in the discussion and making those changes, but it is also about transparency. It is very difficult for us, as patients, to see certain groups get access while others do not. We do not know why that is the case or on what the decisions are based. That is a challenge for us. What we see working in the rare disease community through Rare Diseases Ireland is that the various patients, from people who have a more common rare disease to those who have an ultra rare disease, are just completely lost. How are they supposed to campaign in respect of the way things are right now in this country and be the squeaky wheel when they are looking after their kids? We need a much more transparent and fairer system. It comes back to the basics of the infrastructure. If we get the infrastructure right, we will be in a much better position and engage much more effectively with our European partners and colleagues, which would speed things up enormously for us.

I thank the witnesses for their opening statements. I was jumping between two meetings, so my apologies if any of my questions have been asked. The committee has previously discussed consultants, hiring, staffing and so on. The witnesses mentioned that there are just three genetic consultants in CHI, for example, but that there is a need for 15 of them. Is there capacity within the service to achieve that? My understanding is that consultants need years of training and so on. What needs to be done to get to that stage? Are consultant posts coming down the line? Is there any movement on trying to get people trained up to fill those posts? Consultants do not appear overnight; it takes them years of training. How far away are we from getting to the 15 genetic consultants we need? Has there been any move by the Government to put funding into training posts or anything like that or are we still years away because there just has not been investment in that area?

Dr. Sally Ann Lynch

I partly answered that question but I am happy to repeat my response. To provide an example, two posts were advertised in 2019 and we managed to recruit one person. We have been trying to get a locum for God knows how long but just cannot do so. It is so difficult. I will keep trying until I am dead.

The setting up of the training scheme was delayed as a result of the Medical Practitioners Act 2007. No new training was allowed to be set up, so that delayed the start of our training programme by seven years, which was critical time lost. I was the person who set up the training scheme and it was difficult to get buy-in from the HSE and the Royal College of Physicians of Ireland, RCPI, because small specialties tend to get squashed by the larger specialties. To get to the goal of 15 consultants, it is important to recruit and train locally because one just cannot recruit from abroad. For example, as I mentioned, there are six consultants in Northern Ireland. All of them, as well as three consultants who have now retired, trained in Northern Ireland, apart from the original person. The health service there knows it cannot recruit either, so it has put big efforts into training locally. That is what we have to do. We have one post and are hoping to be given a second but as there is such a small mass of consultants, one cannot have too many trainees. One would need more consultants to accommodate more trainees because it is not fair on the trainee if he or she never sees the consultant because he or she is too busy. It is a serious issue. Many of us will be retiring quite soon.

I thank Dr. Lynch for addressing the issue a second time. My apologies for bringing it up again. I always throw the net out when there is a topic coming up for discussion at the committee. I spoke to a couple of people who have rare diseases. I spoke to a person who has myalgic encephalomyelitis, ME, and explained the situation. Approximately 14,000 people in Ireland have this neurological disease but it is not recognised here. The person to whom I spoke told me about the lack of support from his or her GP, who said the condition does not exist and was not supportive and so on. Would it be fair to say that is not a stand-alone situation in terms of people with rare diseases struggling in the context of not being able access disability benefit because of the approach taken by their GPs? My impression from what the witnesses have said is that it is not a stand-alone circumstance, given the complexities around rare diseases, even though such a high number of people suffer from a rare disease, with 6% of the population affected, as was stated. It is about these smaller things. What does the committee need to do or what otherwise needs to be done to get buy-in - that is probably the wrong word - from GPs or a recognition by them of some of these rare diseases such that people do not have to rely on Chinese whispers that they will be believed by a particular GP or that another GP recognises this disease?

How can we move on from this kind of Chinese whispers process regarding who to see and arrive at a more comprehensive and generalised recognition by GPs of some of these rare diseases?

Ms Vicky McGrath

I can jump in here. This is an interesting question. The biggest challenge we face in this regard is general awareness and we have made some progress in this area. A fabulous campaign is run in the US to raise awareness of rare diseases. It uses the symbol of a zebra to highlight that a galloping sound does not always signify a horse. One of our biggest challenges, therefore, is to make our GP community and healthcare providers more generally think about the possibility of rare diseases and realise that it is not always a common condition that is manifesting and that it is necessary to keep rare diseases in mind as well.

Realistically, however, with 6,000 rare conditions in existence, most GPs during their careers will only ever see a handful of patients with rare conditions, never mind someone from each of the categories. A patient, however, might be unfortunate enough to have a condition suffered by only 50 people globally. Recognition is a battle in that context. I do not fault our healthcare providers. They do not always have the time or opportunity to think about these rare conditions because they are very complex and that is where we need joined-up thinking in a European context. A person with a set of unusual symptoms could then start to access expertise across Europe and further afield internationally. It does sometimes happen.

One challenge that families in this situation typically face in the context of young children who have what may appear to be developmental delays is what they would describe as being fobbed off. The child will be fine in many cases, but, in some instances, that will not be the outcome. What is required is a match between a worried parent and a healthcare provider who will be able to determine whether the issues in question are real or provide reassurance that what is being experienced is perfectly normal. It is an interesting aspect, and I have seen this from a personal perspective with my child who has a minor issue. We do not know quite what it is and some five years later we are still trying to work out the answer. Parents reassure one another regarding these situations, however, and they are great at doing that.

More children being involved in the early childhood care and education schemes means they are now being seen by professionals who are very familiar with children and who may notice things that may seem a bit unusual. We must be able to build on that and ensure that parents are not left alone in a situation where it might seem they are just being overly worried. They must be able to have conversations with other professionals and parents. It is an ongoing battle and it will continue to be a battle for a long time, until such time as our doctors are able to know everything about all our conditions, which is never going to happen. This will always be an issue, but by building awareness we at least make our healthcare providers think of rare diseases and that is the first step. If they are thinking of rare conditions, there is at least the possibility of moving on more quickly.

I thank Ms McGrath for that answer. I had a conversation with a person who suffers from a rare disease and who feels the only way it is possible to describe the situation at present is that there is a price on life in this country. The experience of the health system has left the person feeling that way. No treatment is currently available for the condition in question, but there may be in a few years. It will cost a great deal of money, though, and the person does not have much confidence that the money required will be forthcoming. I speak to such individuals to try to get a perspective on issues and I do not want to create the impression that this is how it is for everyone.

It was remarked earlier, however, that a cost, and a cost-benefit analysis, is attached to everything. Does Ms McGrath think perhaps there is a price on life in our health service? We say there never is. Ultimately, however, if people are unable to get the treatments they require, and, as has been stated, if only 16% of orphan treatments are available in Ireland compared with 90% in Germany, then that statistic tells me that some sort of price must be being put on well-being, care and life. I find it hard to hear that. It is really frustrating that there are people in Ireland who feel that a price has been put on their lives and the Government is not willing to pay it.

Ms Vicky McGrath

I would like to say that there is not. We have ended up with a narrative concerning access to medicines and drug reimbursements that attracts much media coverage. It is not a pretty conversation and that is what has brought people to lean towards the view that a price is being applied. People in the health system dealing with their consultants and GPs, or whomever it might be, have a very different view. The best care the system can deliver will be received. There are blockages in the system and limitations on what can be done because of the infrastructure in our healthcare system. We cannot offer people access to clinical trials because we do not even know if a person is eligible for a particular trial. These are system-wide blockages, which need to be removed. Part of the problem in this regard involves the budget, but to a large extent it can also be a case of the time required and the difficulty involved. We must all say that we are going to step forward and start making the required changes.

It worries me that people think it is all about the price of a drug; it is not. There are so many other elements. Many people are living with rare conditions that will never see a therapy devised and they are seeking supports in the community to allow them to lead the best life that is possible for them and their families. We cannot put all the aspects involved down to there just being a price. There is not. We need a system. We heard Dr. Lynch talk about the role of training geneticists. That should not be an issue. We have similar problems with healthcare providers and supports in other areas, such as in psychotherapy, for example. Some psychotherapists and other specialists may be reluctant to deal with people living with rare conditions they do not know about or understand. They are concerned that the result of their intervention might be more harmful than beneficial. We must create the requisite knowledge, awareness and understanding in such areas and show people we are willing to give them the best lives possible, notwithstanding the fact that a therapy may not be available. Where therapies are available, we require a system that will provide them as quickly as possible.

I thank Ms McGrath again for her answer. I am looking at my notes, and I see that another person to whom I spoke also told me a treatment that may be available in a few years will potentially cost nearly €500,000 as well. I do not know if that is a generalised figure given to people. I spoke to nine or ten different people with rare diseases ahead of this meeting and it struck me as sad that they felt the way they did in this regard. The responsibility for that being the case lies with those of us in the political system. I refer to a situation where it is known that a treatment for a condition may be available and the people with the condition are willing to do whatever is required because their lives are being affected, and yet they feel that the required political or medical support will not be forthcoming.

I cannot imagine what it would be like to live with that feeling of facing an uphill battle to get support. Ms McGrath spoke eloquently throughout this session about these uphill battles that people face in trying to get recognition and support, or just to be believed. It struck me that it is not good enough that we have people who feel that even if a treatment were to become available, they will not be able to avail of it because of the lack of structural support in Ireland. I apologise for having talked at the witness for this past while. The person whom I mentioned that I had spoken to earlier was extremely supportive of some of the work being done by Rare Diseases Ireland and agreed with its policies. I just wanted the witnesses to know that.

Ms Vicky McGrath

I thank the Senator very much.

Deputy Hourigan has another question she wants to ask.

I thank the Chair for letting me back in. I am mindful that while many areas within the remit of this committee are just emerging from an extraordinary time that upset many of our normal, day-to-day services and processes and stalled the progress we would have liked to have seen achieved in 2020, we are also now moving into a new period where, hopefully, we will see Sláintecare fully realised and implemented.

One of the issues that will come up in that new era of what I hope will be a more community-driven model for healthcare is the importance of the cross-disciplinary team and what types of staff members are important for rare diseases. Ms McGrath stated that physiotherapists or occupational therapists might not know about a particular rare disease or have the full complement of education on it but my experience relates to dieticians. My child has a rare disease and I have a real difficulty with them in regard to that sensory issue. The hierarchy of how those community teams work is going to be incredibly important in terms of who knows what and who is in charge of what. What are the priorities from the perspective of the witnesses both in terms of the pathway to accessing genetic testing, care and counselling and on the other side once a person has the diagnosis accessing the correct soft supports? The question is for both Dr. Lynch and Ms McGrath.

Ms Vicky McGrath

The multidisciplinary team would be a godsend. It would provide one-stop shopping for the patient and see patient-centred care beginning to be realised. It is not always easy to achieve but it would be useful and would enable patients to know that their healthcare providers are talking to one another and can see the whole person again, that it is not just their sensory issues or whatever the issue might be. It also provides a patient and a family with one point of contact.

We have a system that is transitioning towards patient-based needs and that is what is needed. People with the same diagnosis and the same genetic condition will have different challenges. They will have different needs and we must make sure that we are listening to the patient and that we are addressing the specific needs of patients and that it is not a box-ticking exercise but is customised for individual patients.

One of the issues I found when we were looking at the effect of coronavirus on the rare disease community relates to the use of telemedicine and consultations online. Some patients really liked it and others did not. It is down to that kind of level of personalised preferences being allowed and the fact that today I like telemedicine but next week I might not. I know it makes the system a little more complex to run but it needs to be done because this is how we ensure that the most vulnerable in society are being listened to, are being heard and are having their needs met. If we continue to require that everybody does things in the exact same way it just does not work for lots of people, in particular those in the rare disease community.

That sounds like a case for personalised budgets and a scheme that would allow people to adapt the services they receive to their particular needs.

Ms Vicky McGrath

Yes. I have not given a huge amount of thought to personalised budgets so I am not sure if I would go that far. As an example, I know that some families would like to provide more care in their homes for their children. They would like to be trained on different things but they are not allowed to be because the system says "No". One could ask if that is a good use of the system. To me, that is a blockage if there are things that parents and families can do in their homes that mean children do not have to go to a hospital. We must ask whether that makes sense. That is thinking about the individuals and their families and what they can do.

I have one follow-up question for Dr. Lynch. I am aware that genetics is a very specialised discipline. I assume that what is involved in the programme for Government is a centre of excellence, but is there a need for regional points of knowledge within the system so that they can be directed towards the centre of excellence? How would that work?

Dr. Sally Ann Lynch

Most clinical genetic services in Europe work as a kind of hub-and-spoke model. Most of us have a big hub with outreach clinics. We used to do outreach clinics in Galway, Limerick and Cork and they have all stopped now because of staffing levels, which is a shame.

When did they stop?

Dr. Sally Ann Lynch

The ones in Cork and Limerick stopped last year and the one in Galway stopped a couple of years ago.

Was is partly because of Covid?

Dr. Sally Ann Lynch

No, it was purely due to staffing issues and nothing to do with Covid. That is a shame. In the NHS every centre does outreach clinics. One of my registrars has done a survey on all the queries coming in to us recently and most of them come from outside CHI. We see adults as well and we do foetal medicine. Most of the queries are coming in to us from adult physicians or foetal medicine physicians but we cannot do those peripheral clinics any more. Every person trying to access that type of care now needs to travel, as there is no regional access. We provide telephone and video appointments. The only thing is that it can be difficult for us to collect samples if we need them. Covid has messed up trying to get blood samples from patients who do not have a clinical appointment. It is not as easy as it sounds.

In terms of education, I have approximately 11 little animation videos on simple things to do with genetics for parents, healthcare professionals and everybody. We do our bit. I have a little microslide for GPs. One of my colleagues, Eileen Treacy, did a study with a number of GPs last year that was published to try to improve education about rare diseases and to emphasise the use of Orphanet, which is a great website for GPs and healthcare professionals. There is loads of stuff online but there is only so much people can capture from online. Online will be the way forward. If there were more of us we would be able to avail of more educational opportunities. I lecture medical students and my colleagues do too because that is going to be critical. None of us are lecturing nurses as we just do not have the facility to broaden that. Hub and spoke would probably be the preferred model because it is a subspecialty, but it would be nice to be able to-----

Is there any expectation post Covid that the regional clinics would open up again?

Dr. Sally Ann Lynch

The Cork one might.

That is shocking. I thank Dr. Lynch.

I thank the Deputy. I also thank the witnesses. As we have the time, I have a couple of questions before they go. Before the meeting I did some research myself online on some of the challenges we face. To be honest, I had never heard of most of the rare diseases. People said motor neurone is a rare disease, but it was not on the list, although 350 people are diagnosed with it every year. Many of the diseases I am aware of did not seem to be on the list. I saw a shocking figure indicating that 30% of children will die before their fifth birthday from a rare disease. I presume that is a worldwide figure. Reference was made to 6% of the population in Ireland or 300,000 who have a rare disease and 30 million in the EU so it makes sense that we would take an EU-wide approach. I am interested in the witnesses coming back to us to outline how they would see that roll-out and what we as a committee could do regarding it.

It was stated that a major overhaul of the existing plan needs to be done. The previous report talked about timely access to diagnosis, treatment, care through all stages of life and a clinical care pathway programme. What I heard this morning is that it is clearly not coming through for many people with rare diseases in Ireland. It was also said that the witnesses have not had sight nor sound of the review itself.

We, as a committee, will ask for that review and try to get it. It does not make sense that when a report is done, it would not be made available. Likewise, in regard to orphan drugs, if a report has been done on that issue, the committee will follow through on it. Again, it does not make sense that such a report, if there is one, would not be released.

On the question of co-operation between the North and the South, we are hoping to meet with our committee counterpart in the North of Ireland. It would be helpful in this regard if the witnesses could come back to us on what aspects of co-operation could be improved, not only in terms of engagement between geneticists but also other areas of co-operation. It makes sense that systems of co-operation between experts on the island should be developed as much as possible. I expect that both the administrations in the North and in this State would be very much in favour of rolling out that type of engagement.

I listened with interest to what the witnesses said about people missing out on clinical trials. The key point I am taking is that a delayed diagnosis means the follow-up does not happen.

Reference was made to big pharma in Ireland and the fact we have attracted so many pharmaceutical companies, as well as IT companies. There is a debate to be had about how we could use that to benefit people. We did not have time to get into this particular issue but it is frustrating for many of us to hear about the cyberattacks that have taken places, knowing there are so many IT companies in Ireland. There does not seem to be a system whereby we could call on that expertise and those resources. There is a similar frustration in regard to big pharma and not only the development but also the pricing of drugs. The point was made that, in some cases, the development of orphan drugs and their roll-out is not about the associated cost but the greed of the pharmaceutical companies in terms of the amount they are looking to charge health services for them. There must be a responsibility on legislators in that regard. I understand there has been considerable lobbying by a number of pharmaceutical companies, which involved contacting people to try to get them to put pressure on Oireachtas Members in terms of rolling out certain drugs. We all accept there is a problem in regard to the orphan drugs being cleared and so on. If the witnesses have some suggestions in that regard, we would be glad to hear them.

Much of what is said about saving money is nonsense. We have had people before the committee who told us about the impact of certain diseases on their quality of life. In the long term, it is costing the health service and the Exchequer a lot more if people need to stay longer in the health system.

We did not have time this morning to get into the area of artificial intelligence and the role it could play in developing a testing programme for rare diseases. This is probably something that needs to be discussed with geneticists. The testing programme I am familiar with is the heel test that is performed on newborns. Do the witnesses see that as a possible way forward in identifying other diseases that children may be born with? Realistically, how do they see a programme being rolled out to test the entire population in terms of DNA, genetics and so on? Should such testing be confined, for example, to young couples and expectant women? There has been some testing going on regarding bowel cancer, which has been quite successful. How would the witnesses see that type of testing being rolled out to identify rare diseases? Are there simple things that could be done better than how they are currently being done?

Reference was made to innovation in how care is delivered. I am sure we are all in favour of that. There is clearly a way forward in respect of telemedicine. We are all having to think differently in how we operate and the health service probably needs to take that on board, particularly given there are so few geneticists in the country. We will probably have to look at new ways of rolling out supports and diagnoses through telemedicine and other means.

It has been very useful to hear from the witnesses this morning and I appreciate their contributions. If they feel there were issues we did not have time to cover during the meeting, I ask that they write to the committee with suggestions in that regard. We certainly will take those suggestions on board and put them through the system. Would Ms McGrath like to comment?

Ms Vicky McGrath

The Chairman mentioned that the committee is hoping to meeting with colleagues from the North. Does he have timing on that? Is it something the committee will do in the next couple of weeks or before the end of the year? Perhaps we could have a discussion offline about what we might suggest in terms of moving forward that engagement.

We have approximately three minutes left, if Deputy Cathal Crowe would like to come in. I will also allow Deputy Colm Burke in if there is enough time remaining.

I thank the Chairman. I confirm that I am in the precincts of Leinster House. I had another meeting that meant I missed a large part of this discussion, but I have followed as much of it as I can. Some of the points that were raised draw parallels with the response to the cyberattack some days ago. We are being told repeatedly that there is information and knowledge in other countries but there is not always co-operation i sharing that information.

I understand people in Ireland have a genetic predisposition to CF. The witnesses have drawn our attention to other ailments that may not be on everyone's radar but that are suffered by people in this country. I am conscious that the clock is running down and, as such, I only have one question, which is for Ms McGrath. Do the educational programmes provided by the Royal College of Surgeons in Ireland, UCD and the other colleges where people undertake training in medicine deal too much with mainstream medicine and not sufficiently with rare diseases?

Ms Vicky McGrath

The short answer is "Yes". There is very limited structured coursework on rare conditions available through the universities. A consideration of the type of education that is needed is part of the need for joined-up thinking around the delivery of a new plan. Certainly, more education on rare diseases needs to be provided. As Dr. Lynch mentioned, even simply alerting nursing students to the existence of genetic conditions would be helpful. Many of their patients will have such conditions but they are not being provided with the skills to enable them to understand what exactly is going on. There definitely is a lot of work to be done on the education system.

There is time for one quick question from Deputy Burke.

I referred to the Mazars report that was furnished to the Department in January 2020. Perhaps we should write to the Department to find out whether that report can be made available to the committee.

We will follow up on that.

The State has spent money on the report and it is wrong that it has been left sitting in the Department, with no action taken on it.

We will try to pursue the matter. The Deputy knows the difficulty we are having in getting information from the Department.

I fully accept that.

I agree that the report should be published.

I thank the witnesses for their contributions this morning. We really appreciate their taking the time out to attend the meeting. I appeal to them to take up our suggestion of writing to the committee with any ideas and suggestions they have on this whole area or to raise any issues that were not covered this morning.

The joint committee adjourned at 11.30 a.m. until 9.30 a.m. on Wednesday, 2 June 2021.