Overhaul needed for genetic screening services

ANALYSIS: Medical Correspondent Dr Muiris Houston examines the state of our genetic services

ANALYSIS: Medical Correspondent Dr Muiris Houston examines the state of our genetic services

The inadequacies in our national genetic screening services revealed by internal correspondence from the National Centre for Medical Genetics (NCMG) and the official Department of Health response to questions on the matter reveal an unacceptable attitude to health service planning in the State.

Last month, it was announced that a laboratory attached to the National University of Ireland Galway (NUIG) had provided patients with incorrect test results for Fragile X Syndrome.

Patients were told their genetic test results were normal when, for at least one of 52 people affected, this was not the situation.

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The Irish Times has learned since that a Tipperary woman, who had been told by the Galway laboratory that her Fragile X test was normal, had a further test in the NCMG, Our Lady's Hospital for Sick Children, Crumlin, which showed she was in fact carrying an abnormal gene for the condition.

The woman, it is understood, had sought genetic testing after her sister had a child with the syndrome, which causes intellectual disability and facial deformity.

Based on the Galway results, she embarked on a pregnancy, which ended in miscarriage. It was after this occurred that a further sample was sent to the NCMG in Crumlin that she found she was indeed a carrier of the Fragile X chromosome and was at risk of having an affected child.

A major review is being undertaken into the activities of the Galway centre.

Experts from the National Genetics Reference Laboratory in Manchester have almost completed their inquiries.

In the meantime, testing for Fragile X at NUIG has ceased and a spokeswoman for the university said it planned to discontinue all human genetic testing at the earliest date possible.

A key question that must be asked is: why was the Galway centre - a private laboratory - still operating independently seven years after the NCMG was set up at Our Lady's Hospital for Sick Children in Crumlin, Dublin?

Why have people in the Republic, west of a line from Cork to Belfast been denied full access to the national centre at Our Lady's in Crumlin?

And why was funding for a national facility channelled through the Eastern Regional Health Authority (ERHA) and not the Department of Health?

Correspondence seen by The Irish Times acknowledges that a two-tier system exists for patients seeking genetic testing in the State.

Prof Andrew Green, director of the National Centre for Medical Genetics, in response to questions on this matter, said he accepted the service had not achieved all of the targets he would have wished.

And while he outlined the gradual expansion of the National Centre since 1997, he noted in reference to samples from mid-west patients continuing to be sent to Galway that "the ideal solution would have been that all tests be carried out in NCMG, but the NCMG has not the resources to be able to do such tests".

Crucially, he added: "The 2003 service plan and previous service plans for the NCMG requested resources to extend constitutional cytogenetic service to more hospitals nationally which were not then served.

"This plan was sent to the ERHA and the Department of Health and Children... Although requested, funds for additional staff extending constitutional cytogenetic services to more hospitals were not forthcoming."

According to the ERHA, an additional €1.28 million has been provided to the NCMG over the past three years as part of its phased development.

"The additional €400,000 provided this year is to support a national cancer genetic service and the provision of a national cytogenetic service for people with leukaemia," an ERHA spokeswoman said.

However, Prof Green said that despite this level of funding, it had not been possible to provide a dedicated service for people at risk of hereditary breast cancer "because of a cap on staff appointments in Our Lady's Hospital".

This is further evidence of the "two steps forward - one step back" approach to funding and managing our health service.

Having argued for funding at two levels - the ERHA and the Department of Health - the NCMG is unable to effect an improvement because of a system-wide staff embargo.

Such a Kafkaesque modus operandi will have to change when the Health Service Executive takes over the running of the health service early next year.

Nor is it acceptable for the Department of Health to wash its hands of a service being provided on a private basis.

Wasn't the Galway centre plugging a gap which the NCMG was unable to fill because of a lack of funding that denied it the opportunity to provide an equitable countrywide service to patients?

As Prof Houghton, the head of the Galway facility, has pointed out; it provided a high quality and efficient service to Irish hospitals, "when other services were not available or were of a limited capacity".

Equally, he noted: "On a number of occasions, Prof Green has made, either directly or to one of the doctors using the Galway service, comments and recommendations about the wording of reports [ for example, making it clear that DNA testing of minors for genetic haemochromatosis was not acceptable etc].

"I always acted on these comments and, where possible, implemented these recommendations," Prof Houghton said.

A spokesman for the Minister for Health, Ms Harney, acknowledged: "Any public body contracting for private services has a responsibility to ensure that the quality of those services adhere to acceptable and verifiable standards."