‘Families waiting more than a year for genetic services’

Hundreds of families are waiting more than a year to access genetic services in Ireland, it has emerged.

A conference on rare diseases held in Dublin Castle yesterday heard that genetic services are critically under-resourced.

Head of the Rare Disease Task Force, Philip Watt, said many of the recommendations of the National Rare Disease Plan, launched in 2014, have not been implemented.

Mr Watt pointed out that current clinical genetics staffing levels in Ireland are among the worst in Europe.

They are up to 80% below those recommended by the Royal College of Physicians in London.

“By way of stark illustration, in a survey of 14 European countries, Ireland came last in terms of the number of genetic consultants per head of population, while Northern Ireland was ranked in sixth place,” he said.

“Right now, my understanding is there are several hundred families sitting on critically-long genetics waiting lists for over 15 months.”

It is estimated that the lives of more than 300,000 children and adults are impacted by rare diseases and four out of five are thought to be genetic.

Chairwoman of the Genetic and Rare Disorders Organisation, Avril Daly, said people with undiagnosed rare and genetic diseases are unable to benefit from new treatments and therapies coming on-stream.

Rachel Martin, 35, from Limerick who has a rare connective tissue disorder, called Loeys-Dietz Syndrome (LDS) was only genetically diagnosed with the condition eight years ago. Ms Martin, a patient advocate with the Marfan Syndrome Support Group Ireland, had to give up her job as a residential property manager because of ongoing health problems.

She said the delays of more than 15 months was to see a geneticist — it could take up to a year for the results of the genetic tests.

“It is a long process and not everyone has that time, unfortunately,” she said.

The conference marking International Rare Diseases Day was organised by the Genetic and Rare Disorders Organisation, the Medical Charities Research Group and the Irish Platform for Patient Organisations, Science and Industry.