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Health | Meeting the challenges of rare diseases

To ask the Minister for Health the extent to which efforts are being made to meet the challenges of rare diseases, early diagnosis and the requirement for rare/orphan disease drugs; and if he will make a statement on the matter.


A disease or disorder is defined as rare in Europe when it affects less than 1 in 2000 people.  There are approximately 8,000 known rare diseases; 80% of rare diseases are of genetic origin and are often chronic and life-threatening.  Up to 1 person in 12 in Ireland may have a rare disease at some stage in their life.  Approximately 300,000 persons in Ireland are living with a rare disease.

Many of the recommendations of the National Rare Disease Plan for Ireland (2014 – 2018) have already been implemented including the establishment of a National Rare Disease Office (NRDO) and HSE National Clinical Programme for Rare Diseases which has now been  operationalised and incorporated into the NRDO which is the main contact point and driver for National HSE rare disease projects and initiatives.

The National Rare Disease Plan elaborates on Ireland’s participation in European Reference Networks (ERN).  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.  These links are emphasized in the Plan to address the care of patients with rare diseases at both National and European levels.  Significant progress has been made with regard to participation in ERNs with Ireland’s 15 applications for entry to ERNs recently being 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.

In order to ensure that the input and the voice of the patient is represented in the ongoing work in relation to Rare Diseases, in 2021 I met with the HSE, NRDO and the Rare Diseases Task force which comprises the main rare disease advocacy groups; Rare Disease Ireland (RDI), the Medical Research Charities Group (MRCP), and  the Irish Platform for Patient Organisations, Science and Industry (IPPPOSI). At this meeting priority areas for the future were discussed with a view to building further on the significant progress made to date in implementing the Rare Disease Plan. A number, of priority areas for the coming period were agreed including; patient awareness, European Reference Networks, research and registries, access to services, access to medicines, diagnosis, education, legislation and policy.

The fundamental challenge that applies to consideration of almost all new medicines in Ireland is their price and affordability in a budget-limited health service. The principal factors in determining the speed of reimbursement are therefore the price at which a manufacturer applies for the reimbursement of a product, the outcome of the HSE’s rigorous assessment process as to its clinical and cost-effectiveness, and the availability of Exchequer funding.

This Government is committed to providing timely access to new and innovative medicines to all patients, including for the treatment of rare diseases, as quickly as possible. Budget 2021 allocated €50 million for the reimbursement of new drugs. This enabled the HSE to approve fifty-two new medicines, nineteen of which were for the treatment of rare diseases. Budget 2022 allocated a further €30 million for the reimbursement of new medicines and as of 26 May the HSE has approved thirty new drugs in 2022,including three for the treatment of rare diseases.


Dept of Health

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