Dr. John Devlin:

A great number of issues have been raised. I agree completely with the sentiment that rare diseases are, in fact, common. That is very much part of our thinking. I likewise agree with what Senator Crown said regarding clinical focus. It struck us very early on that there was a lack of clinical focus with regard to rare diseases. In the case of cancers, a number of very prominent cancer specialists like Senator Crown were able to take the initiative and from that we got a cancer programme. We had the setting up of things like the clinical research network, iCore, and so on. That type of focus was lacking when it came to rare diseases. This was clear to us very early on, as I said, and we did not really want to wait to publish a plan. We decided one of the first things we had to do was to establish a clinical programme on rare diseases, and that led to the appointment of Professor Eileen Treacy. We talked to the then clinical director of the Health Service Executive, Dr. Barry White, and he agreed to do it. It was very important to achieve that clinical focus which was lacking. It was not that patients were not being treated, but no common themes were emerging and what was being done was happening in isolation in hospitals and so on. We did not consider that a good thing.

In terms of how we moved things on from there, we can talk about structures and all the rest of it, but our key priority initially was to start making things happen. While we did not have an oversight committee, we did have a number of meetings with the HSE, particularly around the establishment of the office. We considered this a priority to get us going. To do that, we needed to take several actions. First, we needed to secure and tie down the funding from the EU and then match it. That was the basis for the proposal Ms Byrne has outlined today, and it sets out the requirement for further staff and so on.

Deputy Kelleher asked about collaboration. That is very relevant because this is a pan-European issue. Mr. McCormack and I are members of the European Union Committee of Experts on Rare Diseases, EUCERD, where all these issues are debated. They are very practical issues around the development of the European reference networks, how we will tie into them, what the quality criteria for our centres of expertise will be and so on. That work has been a little slower to progress than we expected, but we should be in a position by the end of the year where countries like Ireland will be able to start designating centres. That is reflected in the work Ms Byrne has outlined regarding the three national centres for medical genetics, inherited metabolic diseases and hereditary haemochromatosis. We may be in a position to designate them into Europe.

Regarding training and medical schools, that is dealt with in some detail in our report. It is not that these conditions are not part of the medical curriculum, because they are, but we need to do a bit more. We need more information on rare diseases. Deputy Ó Caoláin referred to registers. Our report lists 40 different sources of information we had to reference to in order to build up a compendium of cases of rare diseases. Within that, there are some ten or 12 registers. Some of them are familiar resources which operate under a particular code of governance and standards, such as the National Cancer Registry and the Cystic Fibrosis Registry of Ireland, while other registers are less developed. We also have a very strong congenital anomaly registry, EUROCAT, in this country. We had a discussion among our group about the best thing to do in terms of bringing all these sources together, whether by establishing a single national register or something else. We concluded that it was probably more important, in the first instance, to develop a network of registers in order that we can apply common standards of governance and ways of working across those registers rather than simply moving straight into a national register for rare diseases without having all those standards agreed.

That is very much part of our thinking and it is one of the functions of the office. Of course, our staff are not the only ones who will contribute to this. Behind the other registers are other personnel and we fully expect they will contribute to the work, including National Cancer Registry staff, EUROCAT staff and so on. It will also require the support of the patient organisations, which have also developed registers. Legislation is important too, and some of it has been enacted or will soon be enacted. The Health Identifiers Act 2014, for instance, will help us out. Even more important will be the health information Bill, which is intended to provide an opportunity for registers to be prescribed. Once that happens, the registers can operate in accordance with common operating procedures and standards, which will make things much easier.

The delegates from the HSE might be better able to answer the question about the national centre for medical genetics. When we are talking about designating national centres, the work that is happening, the mapping of care pathways through the national clinical programme and so on, will bring us to a better understanding of what we need, what that particular centre might look like and how it will operate within a European context. My colleagues from the HSE might wish to say more about that.

I am sorry to tell Deputy McLellan that we do not have the information she requested regarding cystic fibrosis medication. We will see if we can secure it for her.

I will conclude by referring to research. A good amount of money is going into rare disease research. Indeed, approximately €6.8 million came from the Health Research Board, HRB, alone from 2010 to 2014. The research covers a variety of different rare diseases. Last November the Minister for Health announced a further €1.9 million in funding for rare disease research through the HRB in co-operation with non-governmental organisations. That is very welcome, but there is more to do in this space. Ireland will not be able to solve the problem of rare disease research on its own. It is very much about being part of those larger European networks like the European Clinical Research Infrastructures Network, ECRIN, the European Research Infrastructure Consortium, ERIC, and collaborating on bio-banking. The very nature of these rare diseases, with some of them being ultra rare, means there is a requirement for pan-European research. Once the centres of expertise are designated and the clinicians can take a lead on this, we would be very much supportive of their coming together, forming a network and making applications as part of a broader European network infrastructure.