Crumlin genetics review finds no evidence of any further transcription errors

Hospital says patients should have no cause for concern over accuracy of test results

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

No further errors have emerged from the review by Our Lady’s Children’s Hospital in Crumlin of 335 women who tested positive for a faulty gene, it has said.

The review was sparked by the revelation that one woman’s test result had been relayed to her as negative following a transcription error.

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. She has since been diagnosed with an aggressive form of ovarian cancer and is understood to be very ill.

This week, the hospital checked the paperwork relating to about 335 other women who tested positive for the BRCA gene in case other transcription errors had occurred.

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The review covered the records of patients who had attended a consultant geneticist or genetic counsellor at the hospital’s department of clinical genetics and had a positive test result.

“This review was to ensure the BRCA test result was correctly communicated to the patients’ referring consultant,” the hospital said on Friday evening.

“This review is now complete. No further discrepancy was identified in communicating the correct result to a patient’s referring consultant.”

The review was supervised by two senior experienced consultants to provide clinical oversight of the process, a spokeswoman added.

“We want to offer reassurance to all patients who have undergone genetic consultation at the hospital that there is no concern regarding the accuracy in communicating the correct result of their positive diagnostic genetic BRCA test.”

“We wish to reiterate that there is no concern regarding the accuracy of the BRCA test itself, regrettably the error occurred in communicating the test result.”

The hospital now plans to review over 3,000 negative test results to ensure no errors were made in communicating these results to patients.

Patients with concerns are advised to contact a dedicated genetics helpline at Crumlin at 01 409 6219, which is manned from Monday to Friday from 9am-5.30pm.

Paul Cullen

Paul Cullen

Paul Cullen is a former heath editor of The Irish Times.