Denis Naughten (Roscommon-Galway, Independent) | Oireachtas source

I echo the comments by colleagues on access to drugs, expansion of the heel prick test and the implementation plan for rare diseases. It is one thing having a plan but having it implemented is something different. The surprising thing about rare diseases is that despite their name, they are collectively quite common, affecting at least one in 17 people in Ireland, equating to approximately 300,000 people the length and breadth of this country. This figure is likely to be an underestimation, with the true prevalence of rare conditions probably higher. In a small country like ours, it is likely that each and every one of us has encountered someone affected by a rare disease. As colleagues said, the path to an accurate diagnosis is fraught with challenges. The lack of specific knowledge and expertise often leads to significant delays in receiving proper treatment, placing a heavy burden on families and carers. The anguish of being ill without diagnosis or witnessing a child suffering without recognition is profound. Thus, securing an accurate and swift diagnosis is of critical importance.

Turning to the point Deputy Shortall made, genome sequencing and access to it is vitally important. Last week a number of us attended at Farmleigh where there was an all-island conference on rare diseases. One of the discussions referred to a review article that has just been published in npj Genomic Medicine. It is reviewing the use of first line genome sequencing to diagnose rare diseases and disorders. It is research that has been conducted in the US and it is a review article of research around the globe. The paper points out that genome sequencing can help overcome the disparities in healthcare access and outcomes that are a persistent issue, and can provide a unique opportunity to bridge the gaps by providing equitable access to advanced genetic diagnosis. Implementing policies that promote genome sequencing accessibility can mitigate these disparities, and ensure all patients regardless of socioeconomic status or geographic location will have access to state-of-the-art genetic testing. This approach not only enhances patient care but also promotes fairness and equity within our healthcare services. The report goes on to highlight that the initial costs of genome sequencing are balanced by its comprehensive diagnostic capability, potentially reducing the need for multiple and sequential genetic testing.

By adopting genome sequencing as a first-line test, we can optimise resource allocation and reduce long-term health costs through more efficient diagnosis and management of genetic disorders. We need to consider the long-term benefits of this and not just look at it for acute or exceptional cases. It should be available far more broadly in our healthcare system. That review article makes the economic as well as the healthcare case. That is of importance and cannot be ignored.

Some 37% of patients endure a gruelling five year quest to get diagnoses. Irish research reveals that children with rare diseases occupy hospital beds 25 times more than their peers; yet, our efforts to harness the potential through a national genomic strategy for genetics and genomic medicine has been hampered by the recruitment process, the embargo on the recruitment of staff and the absence of a designated home for a new central genetics and genomic laboratory. No provision has been made for it in the new children's hospital as of now. I ask the Minister to develop the site that will be decanted in Crumlin as the centre of excellence for genomics medicines, put the resources there and provide access not only for people with rare conditions, but more broadly as part of a diagnostic healthcare tool because it will save our health service, provide rapid diagnosis and ensure far more people get the care they need in a timely manner.

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