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.