People with rare diseases being ‘left behind’ by Irish health system

Access to genetic testing and orphan drugs are major issues, Oireachtas committee told

People with rare diseases are being left behind by the Irish healthcare system, an Oireachtas committee has heard.

The joint committee on health met on Wednesday to discuss improving the lives of those affected by rare diseases and their families.

The committee heard that people with rare conditions struggle to access genetic testing and Irish patients have less access to new drugs compared to other European citizens.

Witnesses at the committee also said the health system needs to train more genetic consultants as a matter of urgency due to severe staff shortages.


A rare disease is a condition that affects less than one person in every 2,000.

According to Rare Diseases Ireland, there are roughly 300,000 people living with rare conditions in Ireland.

Vicky McGrath, CEO of Rare Diseases Ireland, said that diagnosis for people with a rare condition is often delayed for many years. “Would we accept delayed diagnosis and treatment in other specialities? We all know what a delayed diagnosis for cancer patients means, yet it is accepted as ‘normal’ for a rare diagnosis to take several years,” she said.

Ms McGrath added 72 per cent of rare conditions are genetic in origin, but genetic testing, genetic consultation and genetic counselling is difficult to access in Ireland.

“The Clinical Genetics service in Children’s Health Ireland (CHI) at Crumlin provides a diagnostic, counselling and clinical genetic testing service for children and adults affected by or at risk of a genetic condition. This service is the sole provider to the population of Ireland.”

Ms McGrath said the HSE’s Review of the Clinical Genetics Medical Workforce in 2019 revealed the extent of the issue.

“There are currently just three genetic consultants in position in CHI at Crumlin. The HSE’s 2019 Review indicates that there should be 15. The most visible knock-on effect is growing waiting lists.”

As of March 2021, there were 3,999 people on the waiting lists for clinical (medical) genetics, up from 3,052 just one year earlier; 1,392 of these are children under the age of 16.

“Typically, the priority waiting list is between 15 and 18 months and routine referrals wait over two years to be seen. As of March, there were 941 people on the waiting list for over 18 months, and 657 of these were under the age of 16,” said Ms McGrath.

Access to drugs is another issue. “There was a report published yesterday [on Tuesday] around access to medicines. Of the 47 orphan medicines that were approved by the European Medicines Agency between 2016-2019, eight of them were available in Ireland for reimbursement.

“Ninety-six per cent of them are available in Germany, 85 per cent in Denmark, 72 per cent in England; Scotland, a similar country to our own, has 47 per cent of them available. Our system is hindering access... we are being left behind.”

Dr Sally Ann Lynch, consultant clinical geneticist from CHI said that in Ireland, the training programme for genetic consultants was delayed for a decade.

“I set up the training scheme in the Republic, but it was blocked by the Medical Practitioner’s Act for about seven years, we weren’t allowed to set up any new training schemes. It’s also very difficult to recruit from abroad... I’ve been trying to get a locum and will keep trying until the day I die.”

The situation in Northern Ireland is far better than in the south, according to Dr Lynch. They currently have six geneticists, who were all trained in the North. “They set up a training scheme, and really supported it.”

However, Ms McGrath said because the North has more services, there could be an opportunity for cross-border co-operation, to reduce waiting lists.