People who require genetic services in the Republic of Ireland can be left waiting for up to two years, compared to a three-month wait in Northern Ireland, Rare Diseases Ireland (RDI) has said.

It has just launched a new campaign - Get Rare Aware – which aims to highlight the challenges people with rare diseases face in Ireland.

As part of the campaign, RDI has published a new report, Ending the Wait, which notes that staffing issues in core clinical genetic services are having a major impact on waiting lists.

Currently, there are 4.3 staff per one million of the population here, which is far lower than many other areas. For example, Northern Ireland has 8.4 staff per one million, while western Norway has 19 staff per one million.

This has a direct impact on waiting lists. In Northern Ireland, the waiting time for a first clinical appointment is three months, while in western Norway, it is five months. In Ireland, it is 24 months.

A disease is considered rare if it affects fewer than one in 2,000 people. There are more than 6,000 types of rare disease and while the number of people affected by individual diseases may be small, the number of people affected by rare diseases overall in Ireland currently stands at around 300,000, or one in 17.

The report suggests a number of actions that can be taken to reduce waiting lists for genetic services, the first of which is “expanding the target workforce size and accelerating recruitment”. It acknowledged that recruitment is a major challenge currently, but warned that “delay with recruitment is the greatest risk to the development of the service”.

Other recommendations include:

-Reducing the amount of paper-based administration by providing frontline teams with access to technology solutions

-Investigating the potential benefits of cross-border collaboration as this may increase total service capacity on the island of Ireland.

The Get Rare Aware campaign is calling on politicians to take action and pressure the government to deliver on its promise in the Programme for Government to “support the medical genetics service” at Children’s Health Ireland (CHI) Crumlin by accelerating the allocation of resources in order to reduce the waiting list for routine genetic services.

“We are asking politicians to take urgent action to address the problems in Ireland’s health service negatively impacting the 300,000 people in the country living with rare diseases, their family members and the healthcare professionals providing their care. Genetic services are massively under-resourced causing long waiting lists and adding to delays in diagnosis,” commented RDI chief executive, Vicky McGrath.

She pointed to a 2022 RDI report, Rare Reality, which found that 37% of people wait over five years for a diagnosis, while 73% are seeing three or more different specialist consultants while seeking a diagnosis.

She described the road to getting a diagnosis as “a long and tortuous journey” that is often wasteful of resources within the healthcare system.

“We are calling for additional resources for the Department of Clinical Genetics at CHI to at least cut in half the waiting list for genetic services for people living with rare diseases in the next one to two years.

“The impact of an under-resourced genetics service is that without the capacity to see people referred to the service, they are added to waiting lists and they are treated for diseases they do not have. They also miss the opportunity to receive the most appropriate treatment and their health continues to deteriorate,” Ms McGrath explained.

The Get Rare Aware campaign will see RDI hosting information events for each of the country’s six new regional health areas (RHAs) over the next three months. The events will bring together political representatives, medical experts and those living with rare diseases to highlight the challenges people face when seeking a diagnosis for a rare disease.

These information events will all take place online and they are open to the public. The first is for people living in RHA B, which covers Longford, Westmeath, Offaly, Laois, Kildare, west Dublin and west Wicklow. It is taking place at 12.00 noon on Monday, March 27. Over 62,000 people in RHA B are estimated to be living with a rare disease.

For more information about RDI and the Get Rare Aware campaign, click here. For further information about the online information events, including how to register to attend, visit www.rdi.ie/gra/.

The report, Ending the Wait, can be viewed here.