Oireachtas Joint and Select Committees

Wednesday, 22 June 2022

Joint Oireachtas Committee on Health

Rare Diseases: Discussion (Resumed)

Dr. Ciara Martin:

The Cathaoirleach is right. The Italians brought in their 40 tests on their dried blood spot screening. Around that time, in 2019, the EU Parliament called for a European-wide approach and for all of us to look at that Italian model. As yet, there is no harmonised system across all of Europe. When one looks at what one can test for on those heel pricks, one sees that 35 to 40 conditions can be done with the biochemical test.

As part of the process which surrounds that, one has to ensure that each of those tests has good quality assurance. That is the most important thing in order that we know we are not finding more positives and, on that basis, treating people who do not need to be treated for diseases. Many criteria go into having a good screening model. Across Europe, everybody is looking at it to try to increase it as best they can. It varies greatly. France checks for one, we check for nine, the UK checks for nine and Italy checks for 40. Everywhere else is somewhere in the middle. I read recently that we need to have the breadth of the Italian experience but we also need the rigour which our own process puts these tests through. This is also the case in the NHS in the UK and in Sweden. We must ensure that we have a test we can stand over and that we are not testing people and telling them they are positive or negative when they are not. We must also ensure that we have a good treatment for every single one of those diseases and that we can stand over it. We are in that process since 2019 with the standing up of the committee. It is slow but I think we are on track. We are not alone across Europe in making this journey.

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