A number of patients who underwent genetic testing to determine if they were at risk of having a child with a particular form of intellectual disability may have received inaccurate test results from a centre in Galway, it has emerged. Eithne Donnellan, Health Correspondent, reports.
The 52 patients, men and women, and one of whom is understood to be pregnant, are to be contacted in coming days by the Diagnostic Testing Centre at the National University of Ireland Galway.
They will now be offered new testing and counselling by the National Centre for Medical Genetics at Our Lady's Hospital for Sick Children in Crumlin, Dublin.
The patients come from five different health board areas and underwent the testing as a result of having a family history of a syndrome called Fragile X, an intellectual disability and the most common known cause of autism.
The patients were told by the Galway centre that their test results were normal and that there was no danger of them having a child with the disability.
However it has emerged now that the test used by the centre was not as sensitive as it should have been and some people may have subsequently got wrong test results.
A major internal review began at NUIG after the problem was discovered and Fragile X testing, which began in Galway around 1994, has since been suspended.
The problem was uncovered when a patient, who had been told by the Galway centre that her test results were normal, had a further test in Crumlin and got a different result. There she was told her test result was abnormal.
The testing was provided by NUIG for individual doctors but now the college is considering abandoning the service altogether.
Prof Martin Cormican, professor of bacteriology at NUIG and a member of a special incident team set up to review what happened, said NUIG realised it had a problem when it was contacted by Crumlin.
He said NUIG was almost ready to contact the doctors who ordered tests on the 52 patients to inform them the patients should be retested in Crumlin.
The patients, he said, would have been tested "over a period of years and may already have had children".
The outcome now could have major implications for NUIG.
Prof Cormican said an expert from the UK has been asked to review what happened.
Acknowledging it is a worrying time for patients, he said: "It's very upsetting that this ever happened."
A special helpline will be open from 10 a.m. today for anyone concerned about these developments. The helpline number is 091-494500.