The Health Information and Quality Authority (HIQA) has published a review of national rare disease strategies in selected countries. This review was requested by the Department of Health to support the development of a new national rare disease strategy for Ireland. 

A rare disease is defined by the European Commission as a condition that affects fewer than 5 in 10,000 people. There are more than 6,000 known rare diseases, which in total are estimated to affect approximately 6% of Europeans, or approximately 300,000 Irish people.

HIQA reviewed the national rare disease strategies of 12 countries: Austria, Australia, Denmark, England, Finland, France, Germany, the Netherlands, Northern Ireland, Portugal, Scotland and Wales. The review described key aspects of the strategies, including their aims, themes and priorities, and compared them to Ireland’s previous national rare disease strategy, the National Rare Disease Plan for Ireland 2014 – 2018.

Improving treatment and coordination of care was an overall aim for most countries. All 12 countries outlined themes of screening and diagnosis, access to healthcare and coordination of services, rare disease research, and patient representation and empowerment. Ireland’s previous strategy included similar aims and themes. Themes not addressed in that strategy were health workforce education and training, and access to mental health and psychology services. 

The review also described the actions planned and how countries aimed to support strategy implementation. Many countries, including Ireland, implemented their strategy using a combination of new and existing structures in their health services, with oversight from the department or ministry for health. 

Most countries outlined funding sources for some or all aspects of their strategies. For countries that did not describe funding sources, or, like Ireland, did not outline a dedicated budget for the strategy, lack of funding was identified as a challenge to strategy implementation. 

Michelle O’Neill, HIQA’s Deputy Director of Health Technology Assessment, said: “Rare diseases pose unique challenges, particularly in relation to timely and accurate diagnosis, and access to specialised treatment. A country’s national rare disease strategy aims to reduce the burden of rare diseases, and improve the quality of care for people with rare diseases. This review provides insights into what other countries identified as issues of importance in their national rare disease strategies, the actions undertaken, and how they supported strategy implementation.”  

The full report and protocol can be found at www.hiqa.ie. 

ENDS

Further information: 

Marty Whelan, Head of Communications and Stakeholder Engagement
085 805 5202 / mwhelan@hiqa.ie

Notes to Editor:

• HIQA has today published the following documents to inform the development of a new national rare disease strategy for Ireland: 
  • Review of national rare disease strategies in selected countries
  • Protocol for review of national rare disease strategies in selected countries
• In February 2023, the Minister for Health announced a commitment to developing a new National Rare Disease Plan, in line with the Programme for Government. This was followed by the establishment of Ireland’s National Rare Disease Steering Group in December 2023, which is tasked with developing this new plan. Find out more here.