Pauline Tully (Cavan-Monaghan, Sinn Fein)
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712. To ask the Minister for Health if spinal muscular atrophy is a condition under consideration for addition to the conditions tested for in the new-born heel prick; if so, when that decision will be made; if not, if he will now place it under consideration; and if he will make a statement on the matter. [39034/22]

Stephen Donnelly (Wicklow, Fianna Fail)
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The expansion of the National Newborn Bloodspot (NBS) Programme is a priority for me, and the National Screening Advisory Committee (NSAC) has been progressing work on this expansion.

The NSAC is an independent, expert committee which makes recommendations to me and the Department on the introduction of new screening programmes or changes to existing programmes relating to a number of conditions such as cancer, non-cancer and newborn conditions, based on international processes and best practice.

The NSAC has been working closely with HIQA, clinicians and other stakeholders, including patient advocates, in setting out the best approach for Ireland in relation to the further expansion of newborn screening.

I am pleased to report recent progress in expanding newborn screening with a ninth condition, ADA-SCID (Adenosine Deaminase Deficiency Severe Combined Immunodeficiency), being added to the NBS programme on 23 May 2022. The NSAC has commissioned HIQA to undertake a Health Technology Assessment (HTA) looking at the addition of other SCID types to the NBS programme. This HTA is underway and I am looking forward to receiving a recommendation from the Committee on this condition after the HTA process is finalised later this year.

The NSAC is now well established and recently published its second annual report which detailed significant progress in 2021. The Committee's first Annual Call for proposals for new screening programmes or changes to our existing programmes, received a significant response with a total of 53 submissions received, including on newborn screening. Submissions were received from various sources and are now undergoing consideration by the committee. The NSAC intends to publish its full work programme later this year once it has considered all proposals submitted.

Given that this is a complex area, careful consideration must be given to the expansion of the NBS programme and these things can take time, however, it is important that decisions are made based on internationally accepted criteria and scientific rigour.

I am aware of how difficult it is for parents whose children have received a diagnosis of a rare disease, and how challenging daily life can be for them, their families and their children. It can be an overwhelming situation and can be very isolating for many families because of the significant work that is involved when a rare disease is diagnosed. I am committed to the further expansion of newborn screening in Ireland and in identifying opportunities for future additions to it.