Dr. John Devlin:

On behalf of the Department of Health, I thank the Oireachtas Joint Committee on Health and Children for providing us with the first opportunity to discuss our response to tackling rare diseases, particularly in the context of the upcoming national rare disease day.

I recall that when we started work on the national plan for rare diseases, which is only a couple of years ago, a number of issues stood out, namely, the diagnostic odyssey or the journey through no-man's land that patients and families had endured, and access to appropriate medicines and technologies. We have tried to keep these issues at the centre of our plan.

Ireland is no different from many other countries when it comes to rare diseases. The original European Council Decision 2009/C15/02 on rare diseases recommended that countries like Ireland should develop national plans and estimated that there were between 5,000 and 8,000 rare diseases. That meant there was often a limited number of patients with a specific disease and, probably more importantly, a scarcity of relevant knowledge and expertise. We know that rare diseases, when added together are relatively common and affect between 6% and 8% of the population. We also know that many of these conditions are complex, severe and debilitating.

In terms of developing a national plan, we held two national conferences as well as online public consultation to discuss what might feed into the development of a plan. It proved helpful to us and highlighted issues we were not particularly aware of at the time. For example, the role of carers who play a vital part in the overall care provided. I thank the patient organisations for all of their help, not just in their contributions they made but also in helping us to plan these days and for the feedback they provided.

I am chair of the national steering group set up by the Department to develop the plan. I wish to acknowledge the help and input from the patient groups that are members of the national steering group. Many of them are here today and will talk later.

The plan was published in July 2014 and we have made copies available for the joint committee. The plan is meant to operate over five years and will define our priority actions. In all, there are 48 recommendations and I shall outline some of them and the progress we are making to the committee.

The relevant areas include the identification of centres of expertise, access to medication and technology, research and access to clinical trials and the empowerment of patient organisations. In European terms, Ireland is a relatively small country. We have significant capacity and a good number of treatment reference centres. We will also have to co-ordinate with other countries as there are up to 8,000 conditions of which many are very uncommon. At EU level, work has started on developing European reference networks and countries like Ireland are playing a key role in this work already. Countries will have to nominate their references centre which will form part of these ERNs. If it is clinically needed, patient care could be shared across reference centres so patients or expertise may travel.

This work does not happen in a vacuum. We need to develop care pathways, greater use of protocols, better access to new technologies and, most importantly and what the initiative will deliver, better outcomes for patients and families. Access to clinical trials is also very important as is the need for a supportive environment for research and to promote clinical trials in Ireland. Our report also acknowledges the key role of information and disease registers.

The plan has also recommended the development of a national office for rare diseases. Its purpose would be to facilitate the co-ordination and timely access to centres of expertise for rare diseases, both nationally and internationally. The office will also act as a national point of reference on services, diagnostics, care pathways and on information regarding rare diseases. The HSE has commenced work on establishing the office. Half-year funding for 2015 of €100,000 with €200,000, on a recurring basis in 2016, has been provided with a €2,000 once-off start-up non-pay cost. Staffing will include an information scientist, genetic counsellor and administrative support.

As the committee will know, the HSE has also established a national clinical programme for rare diseases. The programme aims to improve and standardise patient care for individuals affected with rare diseases in Ireland, by increasing detection and prevention, facilitating early timely diagnosis, co-ordination of care and providing better information and support.

The report also acknowledges the key role of patient organisations and what we need to do more of to empower patients and their families. As I said earlier, there is also a big EU dimension to this work. Recently, the EU rare disease committee has been reconstituted. It is setting new priorities for best practice guidelines, information, research and the establishment of the ERNs. All of this has a bearing on Irish centres of expertise and we are happy to talk about this later.

We also have a good working relationship with our colleagues in Northern Ireland. Prior to the publication of the plan, and subsequently, we have met our colleagues from Northern Ireland on a number of occasions, to discuss practical ways to provide better care and the sharing of information and promotion of research.

The launch of the plan completes this stage of our work and the HSE is now working towards its implementation. There is a lot more we need to do over the next five years. We are happy to answer any questions the committee has on our work.