Dáil Éireann Debate, Thursday - 31 March 2022
388. Deputy Bernard J. Durkan asked the Minister for Health the extent to which it is expected that rare diseases are likely to become treatable in the short to medium term; and if he will make a statement on the matter. [17181/22]
View answerA ‘rare disease’ is defined in Europe as a life-threatening or chronically debilitating disease affecting no more than 5 people per 10,000. There are an estimated 6-8,000 known rare diseases affecting up to 6% of the total EU population, (at least 30 million Europeans), and perhaps up to 300,000 Irish people during their lives.
It can be a challenge to provide highly specialised treatment or care for patients who have complex conditions. This is especially true when the prevalence of such conditions is low, as is the case for rare diseases. This challenge is due to both the scarcity of expertise and to the scattering of small patient populations across the EU, sometimes in isolated locations where expertise does not exist or cannot be accessed.
The National Rare Disease Plan for Ireland (2014-2018) is a generic policy framework on the development and delivery of services and care for people with rare diseases. Many of the recommendations of the Plan have already been implemented including the establishment of a HSE National Clinical Programme for Rare Diseases and a National Rare Disease Office (NRDO). Meetings have taken place regularly with the HSE, NRDO and the Rare Diseases Taskforce and priority areas for the future (patient awareness, European Reference Networks, research and registries, access to services, access to medicines, diagnosis, education, legislation and policy) have been agreed with a view to building further on the significant progress made to date in implementing the Rare Disease Plan. The HSE is also working on proposals to implement the appropriate Rare Diseases coding system in Irish health care coding systems (Orphacodes). This will support the collation and reporting of rare disease data in the future.
European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe where the networking of knowledge and expertise through reference centres and teams of experts takes place. The National Rare Disease Plan elaborates on Ireland’s participation in European Reference Networks. These links are emphasized in the report to address the care of patients with rare diseases at both national and European levels.
ERNs facilitate discussion on complex and rare diseases that require highly specialised treatment and concentrated knowledge and resources. ERNs also create a clear governance structure for knowledge sharing and care coordination across the EU to improve access to diagnosis and treatment, as well as the provision of high-quality healthcare for patients.
In November 2021, Ireland’s 15 applications for entry to these ERNs were approved from 5 academic hospitals. Entry to these networks commenced on 1 January 2022 and represents a significant achievement for the Irish Health Service which will drive innovation, training and clinical research for highly specialised care. It is also a very positive development for individuals and families affected with rare diseases.
The implementation and integration of ERNs to the Irish health system is strategically aligned with the ‘Programme for Government: Our Shared Future’, which provided commitment to increase focus on rare diseases through the established of ERNs, in addition to Ireland’s first ‘National Plan for Rare Diseases (2014-2018)’ and the 2019 HSE ‘Model of Care for Rare Diseases’.
The Department has a long track record in supporting rare disease research through the Health Research Board (HRB). In the last 10 years alone, the HRB has invested €14m in rare disease research. Increased focus and investment in this research is making a difference to rare disease patients and their families. Great advances have been made in diagnosis, prognosis and prevention of rare diseases.
The pipeline of new medicines coming to market remains strong and the Department is committed to funding access to new and innovative therapies, including those for rare diseases. I want to secure faster access to medicines for the most vulnerable of our patients and am committed to making sure all patients with rare diseases get the treatment they need.
