Leo Varadkar (Dublin West, Fine Gael) | Oireachtas source

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 assess 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.

See this speech in context