Frank Feighan (Sligo-Leitrim, Fine Gael) | Oireachtas source

I thank the Deputy for the opportunity to update the House on this important matter. The Minister and myself are 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 those families and children. Advances in technology and treatment for many of these rare, but serious, conditions are continually emerging, which is very welcome for the families and carers of these children.

Newborn bloodspot screening, or the heel prick test as it is more commonly known, can identify some of these treatable, rare conditions in infants. The expansion of the national newborn bloodspot screening programme, which aims to add more conditions to the heel prick test, is a priority for the Minister for Health. I am pleased to report that progress is being made on the expansion of newborn screening, with the recent addition of a ninth condition, ADA-SCID, in May 2022.

Work on further expansion, and the assessment of evidence for the addition of further conditions, is under way by the National Screening Advisory Committee. This independent, expert committee makes recommendations to the Minister and the Department of Health on population screening in Ireland. The assessment of the evidence for making changes to screening programmes is a thorough process, done in line with internationally accepted criteria and with scientific rigour. In addition to the scientific and technological information required to make evidence-based decisions, there are ethical, legal and societal issues that arise when planning an enduring population-based screening programme of this nature. The committee works closely with the HSE, HIQA, clinicians and patient advocates in its approach to the expansion of screening programmes such as the newborn bloodspot programme. HIQA is conducting a health technology assessment to look at the evidence for the addition of a tenth condition to the newborn bloodspot programme. This is due to be finalised in the near future and the National Screening Advisory Committee hopes to make a recommendation to the Minister before the end of this year. The committee will also publish its full work programme, including its work plans on further expansion of newborn screening, shortly.

Spinal muscular atrophy, or SMA, is a rare genetic condition causing progressive muscle wasting and weakness leading to loss of movement. This may affect walking and upper body movement, breathing and swallowing. A new innovative gene therapy treatment called onasemnogene abeparvovec, brand name Zolgensma, was granted EU marketing authorisation for treating SMA in May 2020. Following the first joint agreement on the price of the drug between Belgium, Ireland and the Netherlands, the HSE approved Zolgensma for reimbursement in the treatment of SMA for patients who meet the specified criteria in October 2021. This was a welcome and significant development for the State as it is the first time Ireland has agreed to fund a drug for rare diseases in partnership with other countries, as part of the BeNeLuxA initiative. In light of all this, I trust the public can be assured of the Minister's ongoing commitment to further progress in this important area. I again thank the Deputy for raising this important issue.

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