New genetic testing service will help diagnose rare diseases

Carol and Danny Molloy at home near Drangan, Co Tipperary: We don’t know what the outlook is for him, we haven’t got a clue. We don’t know what to expect in the future because we don’t have a diagnosis.' Picture: Denis Minihane

Ireland’s first strategy for genetic and genomic medicine was launched on Tuesday, with plans for a patient-centred national service to help people with rare diseases.

These plans were welcomed by one Tipperary mother who is paying privately for genetic testing, having been told there is a 30-month waiting list for the public service.

The plan includes a new national office, workforce planning and changes to laboratories. The HSE also expects this specialised care to become more accessible for families.

Carol Molloy’s son Danny is eight, and while he is being treated for a number of health conditions at his local hospital and in Dublin, he does not have an overall diagnosis yet.

“We don’t know what the outlook is for him, we haven’t got a clue,” she said. “We don’t know what to expect in the future because we don’t have a diagnosis.” 

She rang the public service recently hoping for a cancellation to move up the testing list, but she said: “Thirty months is the waiting time at the moment. Danny will be 11 by then.” 

Hiring more geneticists would help families, she said. 

“We definitely need something done, it really is desperate what people are going through,” she said.

HSE chief clinical officer Dr Colm Henry said: “It will allow for increased disease prevention, better diagnostics, more targeted treatments, and better patient and family outcomes.”  

The strategy will make this care more routine, with access from different parts of the country, not just Dublin, and will include GPs, he said. 

National Genetics and Genomics Strategy Steering Group chair Dr Mark Bale said: “I have every confidence that Ireland will rise to this occasion, beginning with implementation in early 2023.” 

Health minister Stephen Donnelly previously committed €2.7m in funding through the budget. 

“These first steps will begin to pave the way to a new era of a modern, nationally led genetic and genomic service in Ireland,” he said.