Rare disease steering group favours registry

Members of the rare diseases steering group have backed the creation of a national rare disease registry, this newspaper understands.

At its meeting in September 2024, the group agreed that a centralised registry would be the “most effective and appropriate option” for gathering “high-level, organised, and mappable” data on rare conditions.

The steering group, chaired by Prof Cecily Kelleher, was established in December 2023 to develop a new national strategy for rare diseases.

According to meeting minutes, members also stressed that the registry’s purpose must be “clearly defined” and should “work in conjunction” with existing disease-specific registries and consortia.

The group last met in November and has since signed off on the strategy, a Department of Health spokesperson told the Medical Independent.

The document has been presented to the Chief Medical Officer for consideration. It will then be provided to the Minister for Health. The Department spokesperson said it was not possible to give a definitive date for publication at this time.

The steering group considered a number of areas within their recommendations, including data, health information systems, and registries, and “specific recommendations have been made by the group relating to these important areas”.

Availability and ease of access to information are crucial for improving the lived experience of people with a rare disease, added the spokesperson.

“Recommendations relating to data, health information systems, and registries seek to ensure that accurate rare disease data can be used as an essential tool for service planning, delivery, and evaluation, enabling the development of guidelines and standards, and assessing how Irish health services compare with international benchmarks.”