NUIG laboratory: Concerns about the quality of genetic tests carried out by a laboratory in Galway were expressed by the director of the National Centre for Medical Genetics, Prof Andrew Green, as far back as 2002, it has emerged from correspondence seen by The Irish Times.
The laboratory attached to NUI Galway carries out tests for hundreds of patients to determine if they are at risk of having a child with a particular genetic disease. Prof Green also acknowledged the existence of a two-tier system of genetic analysis in the Republic, depending on where one lives.
The Diagnostic Testing Centre at NUI Galway (NUIG), which is the subject of a major internal review, suspended testing for a syndrome called Fragile X in October, after it was found to have reported inaccurate test results on a number of patients.
Some 52 patients from five different health boards who underwent testing in Galway as a result of having a family history of Fragile X Syndrome are being retested and counselled by the National Centre for Medical Genetics at Our Lady's Hospital for Sick Children in Crumlin, Dublin. Fragile X is the commonest inheritable form of intellectual disability in males.
In a letter to a fellow consultant in April 2002, Prof Green, director of the National Centre for Medical Genetics (NCMG), said: "Like you, I have significant reservations over the quality of analysis and reporting from this [ NUIG] laboratory." Noting the NCMG had not been given the resources to provide a full national cytogenetic service, he said the shortfall had been highlighted in annual service plans presented by the NCMG to the hospital [ Our Lady's in Crumlin] and to the Eastern Regional Health Authority [ ERHA]. "However, sufficient resources have not been forthcoming, despite our demands.
"There is, therefore, a two-tier system in place in Ireland in regard to cytogenetic analysis, as you so rightly point out. I very much regret this unsatisfactory situation, and see the remedy as requiring significantly more cytogenetic staff and equipment."
The reference to a two-tier system is an acknowledgement that patients and doctors in the east, north east and south-east of the State have access to genetic testing by the public health system at the NCMG, while those in the midlands, north-west, west and south west must use a private facility at NUIG. However, individual health boards in the western half of the Republic reimburse the cost of genetic testing at the Galway laboratory.
However, Prof James Houghton, head of the Department of Microbiology at NUIG, told The Irish Times he was not aware of the services reservations that Prof Green had about the quality of its genetic service. "I have served on several national committees and boards with Prof Green but his general concerns about the quality of the Galway service were not expressed to me," he said.
Pointing out that the laboratory in Galway had always worked conscientiously to provide a high quality service to Irish hospitals, Prof Houghton said: "I am not medically qualified and so I do not feel that it would be appropriate that I should make clinical interpretations of scientific reports that are issued by my laboratory."
But Prof Green told The Irish Times, "I brought these issues to Prof Houghton's [ the head of the laboratory] attention in 2000 and encouraged him to participate in genetic external quality assurance schemes and make interpretations of the genetic findings."
However, Prof Green said he was not aware of any systematic laboratory error at NUIG. He confirmed he had not notified the Department of Health of his concerns, as it "has no role in regulating private laboratories".
Prof Green also acknowledged the service offered by the NCMG had not achieved all the targets he would have wished. "The aim of the NCMG is to provide a quality genetic service nationwide, and the NCMG has moved significantly towards achieving that goal," he said.
In a statement the Department of Health said the Galway centre was not part of the public health service. Asked about its stance concerning a private laboratory that supplied a service to public patients in lieu of the NCMG, a spokesman said: "The current situation is unsatisfactory, insofar as there is any loss of confidence in diagnostic testing. Any public body, contracting for private services, has a responsibility to ensure the quality of those services adhere to acceptable and verifiable standards."