Press release
Minister for Health marks Rare Disease Day 2024
From Department of Health
Published on
Last updated on
From Department of Health
Published on
Last updated on
The Minister for Health Stephen Donnelly is today highlighting the significant work underway to reduce the impact of rare diseases in Ireland.
Ahead of an event hosted by Rare Diseases Ireland (RDI) and Northern Ireland Rare Disease Partnership (NIRDP) to mark Rare Disease Day 2024, the Minister outlined progress on a number of important initiatives including:
Speaking this morning, the Minister reaffirmed his commitment to supporting the enhancement of care and treatment of the estimated 300,000 people in Ireland living with a rare disease.
Minister Donnelly said:
"As we mark Rare Disease Day, I’m delighted to be attending a conference that brings together people living with rare diseases, advocates, care providers, policy makers, clinicians and industry.
"The theme for the day ‘Looking to the future for rare diseases’ is an opportunity for us to reflect on the achievements to date while focussing on the next steps.
"We have made great strides in recent years with significant investment in orphan drugs and the expansion of our NBS programme, and we’re responding to patients’ desire for transparency by introducing a tracker so that they can monitor the progress of new medicine applications.
"I’m confident that the work underway to develop the new National Rare Disease Plan will be greatly enhanced by the contribution of the newly established Patient Forum. This will lay strong foundations for better services to meet the needs of the estimated 300,000 people in Ireland living with a rare disease."
Work on the development of an application tracker for medicine reimbursement applications is now at an advanced stage. The online tool, which will be available on the Health Service Executive website, is projected to go live in the coming months.
Screening is an important tool in reducing the impact of rare diseases. Earlier this month, Minister Donnelly announced an additional €700,000 of funding to the NBS Programme, commonly known as the ‘heel-prick’ test for newborns, bringing the total additional funding for 2024 to €1.4 million. This increased budget will support implementation of screening programmes for two new conditions: Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA). It follows the introduction in 2022 of testing for ADA-SCID.
Over the past three years, 39 medicines with an orphan designation have been approved for funding by the HSE, supported by €98 million of additional investment. An additional €30 million has been allocated for new medicines in 2024.
Ireland’s new National Rare Disease Plan is currently being developed by the National Rare Disease Steering Group. It includes patient representatives, as well as representatives from advocacy groups, clinicians, the HSE and Department of Health.
Ensuring that the voices of patients, carers and their loved ones are considered, a Patient Forum has been established that will feed directly into the Steering Group.
The new National Rare Disease Plan will set out the vision for rare disease services in Ireland and will outline the actions required to achieve this.
A rare disease is defined in Europe as a disease having a prevalence of fewer than 5 cases for every 10,000 persons. There are currently up to 8,000 described rare diseases. Collectively, these diseases affect around 6% of the population (accounting for an estimated 300,000 individuals in Ireland).
The new National Rare Disease Plan will seek to:
The National Screening Advisory Committee (NSAC) is an independent committee of experts tasked with considering proposals for new or changes to existing screening programmes. It issues recommendations to the Minister for Health following consideration of evidence reviews or Health Technology Assessments (HTAs) carried out by the Health Information and Quality Authority (HIQA). Minister Donnelly recently announced the allocation of additional resources to increase the capacity of HIQA to take on more HTA processes simultaneously.