Professor Eileen Treacy:

I think a number of issues have been addressed but I would like to speak on three issues.

First, information for GPs is critical as this is the point of care for all patients. Members may know of a survey in 2008 which found that 73% of GPs do not know where to get that information. This is crucial. We are one of the very few member states in Europe that do not have a central information office linked to Orphanet. This is not a difficult target to meet. This central information source can provide the necessary information by a phone call or e-mail to a GP and to all providers as well as patients and families. It is a false economy to say we do not have money for this service. The service would be highly cost effective and I am amazed that money is not put forward in this programme for prevention. However, no economic evaluations has been done.

We hear about the patient journey, a patient that can have ten consultations. Out of 330,000 patients, all it would cost to provide this service is the cost of 100 consultations per year if it is financed and funded through a service delivery such as a hospital. This is something that we think would be highly cost effective.

Education is totally feasible. I am pleased to see Dr. Paula Byrne is in the Gallery. Dr. Paula Byrne is leading out on a UCD module for teaching GPs. A number of people lecture in this module which is supported by iPosi. We would hope that all students and trainees would get teaching and education on rare diseases. I know from the medical students that they do not know about rare diseases. Learning about rare diseases has not been prioritised and it has not been funded. On the issue of training for the future, I am pleased to say that the royal college and the HSE medical education and training office under Professor McGovern has set up a review and a module to look at further needs. There is a call for more funding for genetic specialists and providers in this area. We can make recommendations. What we need is implementation and financing from the Government. The recommendation will not be implemented unless there is funding.

There must be appropriate and quality information provided through the office and governed so that patients are not put on the wrong journeys and put on inappropriate clinical trials. In addition, I fully support the fact that the patient organisations and helpline have to be funded and supported. This is one of the calls for the key indicators for the programme, across member states. That could be linked to the central information office and we would fully support that function.

Deputies Kelleher and Ó Caoláin asked quite a lot of questions. The last issue that must be addressed is our role in the European reference network. This comes back to the question of research as well about clinical cross-border care. I was asked what we can do in terms of research in Ireland. We have certain champions in Ireland and we have wonderful opportunities with the new projects, the RDEC, to develop pharma and research. We cannot work on every rare disease. We know from the EURORDIS survey that the three main indicators of success in research are patient empowerment, working with patients, second, having registries and the third major issue is collaborating in a reference network. We collaborate with a group of investigators in different countries and this would be facilitated by the reference networks.

We are working on a number of projects in this area. That is the European position that we must move forward on.

The last question that I must address is the issue of treatment abroad. We have heard from a number of families that there are difficulties in gaining access to the scheme and hope to be able to address the matter through the clinical care programme.

One issue that I wish to raise is the fact that we urgently need centres mapped out and designated. We also need to know if they meet the quality criteria and whether there is a reference centre or a centre in Europe. I believe that a patient should be referred to the appropriate specialist centre in Ireland to see whether we have the expertise but that is not something that can be done in a Department. It is the clinicians and specialists who would know whether they are competent enough to provide a treatment. There might only be one case of a particularly rare disorder every five years so we would not have the expertise. Clinicians should have the responsibility to say "Yes, this patient should have access". I hope the initiative will be developed with the national contact point but the person has only recently been appointed. Training must proceed and we will also work with the HSE and the individual to improve that pathway. I thank the committee for their attention and hand over to my colleagues who wish to make a few points.