Crumlin hospital to check genetic test results of 335 women

Paperwork relating to about 335 women who tested positive for a faulty gene is being checked by Our Lady’s Children’s Hospital, Crumlin following controversy over the mis-transcribing of one woman’s test result.

Minister for Health Simon Harris has said the case of the woman who was incorrectly told she did not have a gene that put her at increased risk of cancer was caused by "human error in transcribing the result of the test".

Citing the view of the Children’s Hospital Group on the case, he said it appeared to be “an isolated incident”.

The incident has prompted the hospital to re-examine about 3,500 genetic tests carried out in the UK to see if a similar transcription error occurred. The review will focus particularly on about 335 tests which were found to be positive, to see if this result was correctly relayed to the patient.

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The woman was told by the hospital in 2009 that she did not carry the BRCA1 gene – which can suggest a patient has a higher risk of developing cancer – but subsequently discovered she had been misinformed.

The hospital, which says there had been a “transcription error” of the genetic test result, is currently reviewing all transcriptions of BRCA tests to ensure the results were recorded correctly.

Genetic services

Crumlin, though best known as a children’s hospital, also provides genetic services nationally for both adults and children.

Mr Harris said on Monday this review would be completed early this week.

He said the aim of the review was to provide reassurance to women who had been through the service.

“I think that’s the right and proper thing to do. They have been very clear that this shouldn’t be a cause of alarm and concern.

“As of now it is the view of the Children’s Hospital Group that this is a very tragic but isolated incident where there was a transcription error.”

The patient has since been diagnosed with what was described as an aggressive form of ovarian cancer and is understood to be very ill.

In a statement, the Children’s Hospital Group apologised to the woman at the centre of what it said was a transcription error. It said it regretted “the series of events that led to her current difficult situation”.

“We want to offer reassurance to all patients who have undergone BRCA testing at OLCHC that there is no concern regarding the accuracy of the result of the BRCA test,” it said.