Seán Crowe (Dublin South West, Sinn Fein) | Oireachtas source

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?