Dáil debates

Wednesday, 6 July 2022

Saincheisteanna Tráthúla - Topical Issue Debate

Health Services

8:27 pm

Photo of Pauline TullyPauline Tully (Cavan-Monaghan, Sinn Fein)
Link to this: Individually | In context | Oireachtas source

Last Tuesday, 28 June, marked world newborn screening day. I initially submitted this Topical Issue matter last week to coincide with that date after a parent who has two children with spinal muscular atrophy, SMA, contacted me and asked me to ask the Minister for Health a very simple question: why is there a continued delay in adding spinal muscular atrophy to the conditions tested for in the newborn heel prick test? We need progress on this important issue without further delay.

Each year in Ireland, an average of six babies are born with the neuromuscular condition, SMA. This degenerative condition means that most who are affected will never walk. Left untreated, 95% of children with the severest form do not live past 24 months. There are different levels of severity of the condition. We should be thankful that there have been significant advances in drug treatments for SMA over the past five years and that these medicines have the potential to dramatically alter the prognosis for those who receive them. They represent a significant step forward for the treatment of SMA in Ireland. Clinical data prove that the earlier a patient receives treatment for SMA, the better the outcome will be. Many children born with the disease do not present with symptoms until the age of 12 months or later. Regrettably, it is often the case that, by the time an accurate diagnosis is made, significant neuromuscular damage has been done. Receiving one of the SMA medicines makes a significant difference but, again, the earlier it is administered, the greater that difference will be.

A simple PCR test can diagnose SMA with near perfect accuracy from a spot of blood. Each year, approximately 60,000 babies are born in Ireland and each of these receives the heel prick test for a small number of serious medical conditions. It is possible to add SMA to this list for an additional cost of just €5 per individual. Ireland led the way in newborn screening when it introduced the heel prick test in the 1960s but in the years that have followed we have unfortunately failed to keep up with our European peers and now trail in the newborn screening league tables.

In December 2021, SMA Ireland, the representative group for people affected by spinal muscular atrophy in Ireland, wrote to the newborn screening advisory committee to ask for SMA to be screened for in the heel prick test. This submission was looked upon favourably but six months later the group is still waiting for SMA to be formally included. The HSE has clearly signalled that SMA is a condition that should be treated. Considerable resources are directed towards this endeavour every year. However, as a result of SMA not being added to the heel prick test, children are not being diagnosed at the earliest possible opportunity. Precious months are being lost. The medicine is eventually administered but it would be much more effective if each child received it at the very beginning. The status quo makes no sense ethically or financially. I ask that SMA be immediately added to the list of conditions tested for as part of the heel prick test.

Photo of Frank FeighanFrank Feighan (Sligo-Leitrim, Fine Gael)
Link to this: Individually | In context | 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.

8:37 pm

Photo of Pauline TullyPauline Tully (Cavan-Monaghan, Sinn Fein)
Link to this: Individually | In context | Oireachtas source

I welcome the Minister of State's response and his statement that it is a priority for the Minister for Health. He also said the National Screening Advisory Committee is considering adding a tenth condition, but he did not say if it would be SMA specifically. I ask him to clarify that. Is the tenth condition to be added to the testing SMA? SMA Ireland represents children already diagnosed but it wants to ensure the best possible treatment for children going forward, so all children born with the condition receive treatment at the earliest possible opportunity. We are talking about approximately €300,000 per year. It is not huge money. It makes financial sense. It also makes moral sense because there would be better outcomes for children going forward but if someone was just looking at it from a financial point of view, which unfortunately the HSE and the Department of Health tend to do, it would make sense in that regard as well.

The Minister of State mentioned different treatments that are coming on stream. Other treatments that have already come on stream have made a huge difference. I acknowledge that. The earlier a child is diagnosed and gets treatment, the better the outcome for the child, and the better the financial outcome for the Department of Health and the HSE. I ask the Minister of State to provide that clarification. Is the tenth condition SMA or is it just that the committee is considering a number of conditions and SMA might be one of them?

Photo of Frank FeighanFrank Feighan (Sligo-Leitrim, Fine Gael)
Link to this: Individually | In context | Oireachtas source

I will get those criteria for the Deputy and I will ask the Minister's office to follow up on that. I reiterate that the expansion of the national newborn bloodspot screening programme is a priority for the Minister for Health and this work has been ongoing since the establishment of the National Screening Advisory Committee. The work in this important area is continual and is evidenced by the addition of a ninth condition to the programme in May 2022. As I said, work is under way on consideration of the addition of a tenth condition. I will try to clarify that for the Deputy. The Minister is committed to the further expansion of newborn screening in Ireland and to identifying opportunities for future additions to it in accordance with internationally accepted criteria and best practice.