Oireachtas Joint and Select Committees

Wednesday, 26 May 2021

Joint Oireachtas Committee on Health

Rare Diseases: Discussion

Photo of David CullinaneDavid Cullinane (Waterford, Sinn Fein) | Oireachtas source

Ms Daly mentioned the need for more holistic genetic services and having a clear pathway from testing right through to therapy. What I think she was saying is that we need to have access to genetic testing and that, in turn, can lead to clinical trials, which, in turn, can lead to therapies and treatments. That plays a major role in relation to not just the diagnosis but also the treatments at the end of the process and obviously we must have all of that right. I want to ask what happens when somebody is diagnosed. It is unacceptable that in some cases people are waiting for more than three years.

There is a need for additional capacity, whether that is in the form of consultants or otherwise, and we can have a look at that. Our guests might send some recommendations to the committee on how we can improve diagnostics in this area and where the shortcomings are.

What sort of care pathways are in place from diagnosis to treatment? Where are the challenges in that area for patients who have been diagnosed?

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