Oireachtas Joint and Select Committees

Wednesday, 22 June 2022

Joint Oireachtas Committee on Health

Rare Diseases: Discussion (Resumed)

Dr. Ciara Martin:

The committee was set up relatively recently, in 2019. At that stage, there was a new recommendation going through, which came to the bloodspot screening in May this year. We now screen for nine conditions on that bloodspot screening. The committee has been set up. As we stated, it has gone to the public and to clinical professionals to ask for nominations to be considered for screening. To my knowledge, it has received more than 50 recommendations and will be going through that procedure. The committee is independent and will be following international guidelines. It will be making recommendations in respect of policy to the Department of Health and in respect of operation to us. It is hoped that we will expand the national newborn screening to include more inherited and other conditions.

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