Last week, I attended the launch of the I Am Number 17 campaign, a determined initiative by 17 change-makers who shared their stories thereby shedding light on the realities faced by patients with rare diseases in Ireland. They are committed to enhancing our understanding of rare diseases and demonstrating that such conditions are more common than any of us believe. Rare diseases include cystic fibrosis, Duchenne muscular dystrophy and Huntington's disease, alongside most cancers, especially those affecting children. Rare diseases are collectively common and affect at least one in 17 people in Ireland, which equates to at least 300,000 people. This figure very likely underestimates the true prevalence when considering rare disorders. In a nation as small as ours, it is almost certain that we know or have encountered someone affected by a rare disease yet 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, thereby placing a heavy burden on families and carers. Many rare diseases emerge early in life with a staggering 30% of the children affected passing away before their fifth birthday although many cases are not identified until much later.

The anguish of being ill without a diagnosis or witnessing a child suffering without recognition is profound. Thus, securing an accurate and swift diagnosis is critical. However, 37% of patients endure a gruelling five-year quest for a diagnosis, often after being treated for unrelated conditions due to the complex nature of diseases. Irish research reveals that children with rare diseases occupy hospital beds 25 times more than other children, not to mention the significant care and cost burdens placed on adults with rare diseases.

The potential of genomics in addressing these challenges is immense. It offers hope for quicker, more precise diagnoses yet our efforts to harness this potential through a national strategy for genetics and genomics medicine have been hampered by recruitment issues and the absence of a designated home for the new central genetics and genomics laboratory. That laboratory is vital for the future of genetic testing in Ireland yet plans for its relocation from CHI Crumlin when the new children's hospital opens remain unclear, with no alternative site identified. This oversight jeopardises the effectiveness of our health service, leaving a crucial component of our national strategy in limbo and exacerbating existing inequalities.

I implore the Taoiseach to personally address this critical issue. Let us ensure that the I Am Number 17 campaign leads to meaningful and lasting change, improving the lives of those affected by rare diseases in Ireland.

At the outset, I thank Deputy Naughten for raising this important issue and I know rare diseases are a cause the Deputy has championed for many years. I know the effect that rare diseases can have on many patients living with them and, at times, it can be difficult to access the appropriate medicines, technologies and diagnostic tools. We made commitments in the programme for Government to ensure increased focus on rare diseases and people living with them and we are now developing a new rare diseases strategy, which will renew that focus. A rare diseases policy unit has been established in the Department of Health and a national rare diseases steering group was also established in December and has met three times since. The development of a new strategy will look to the future and the needs of those patients and families living with rare diseases and diagnoses. We expect to have the new plan ready well before the end of this year. The voices of patients and families will be central to the development of this policy and a patient forum has been established to ensure exactly that.

In regard to the specific issue of the national laboratory capacity for genetic testing, we are fully committed to advancing genetic and genomic medicine in Ireland and building a national service. The central theme of the national strategy for accelerating genetic and genomic medicine in Ireland is to strengthen infrastructure and drive advances in genetics and genomics. This includes actions in regard to laboratory capacity. In particular, the National Genetics and Genomics Office is working to enhance existing laboratory infrastructure to promote the development and use of innovative technologies for testing, sample tracking and reporting. A national centre of excellence in genomic testing and bioinformatics will be established as a single entity and that will sit under the governance of the HSE. The national centre will work in collaboration with relevant clinical specialties and existing laboratory capacity in alignment with the new health regions. A genomics laboratory operating model is now being developed and, as part of this, for 2024, there is the development of a national genomic test directory for rare and inherited diseases.

Last year, the Minister for Health allocated €2.7 million to kickstart the national strategy for genomics and genetic medicine, aiming to bolster our health services capacity in genomics. However, progress has been stymied by recruitment shortfalls. At the last count, only ten of the 18 roles have been recruited under last year's allocation. The eight outstanding roles will not be appointed and have been merged into five roles planned for recruitment in 2024. Therefore, by the end of 2024, there will be 15 new hires under the strategy rather than the planned 23. If the failure to recruit staff was not bad enough, as I say, there is no plan in place for where we are going to house the new main laboratory for genetic testing in Ireland when CHI Crumlin is relocated. Will they be left wandering the halls of an empty Crumlin hospital after everything else has moved out? We need answers, we need action and we need them now.

I understand that some of the posts that were approved in 2023 were affected by the temporary pause on new recruitment. A new workforce plan for 2024 is being developed by the HSE and it will be able to increase its total staffing levels by between 2,000 and 3,000 over the course of this year. This will include genetic counsellors and the development of the genomic resource associate role to help patients navigate the genetic and genomic care pathway and improve the co-ordination of care. The €2.7 million provided to fund the implementation of the national strategy for genetics and genomics included the establishment of the national office of genomics and the appointment of key staff. In regard to the location of the new laboratory and whether it remains in Crumlin or not, I do not have a satisfactory answer for the Deputy today but I will discuss it with the Minister for Health and come back to him as soon as I can.