Woman given ‘incorrect’ diagnosis for breast cancer gene now seriously ill

High Court told mother (52) has late stage ovarian cancer with poor prognosis

The woman has sued Our Lady’s Childrens Hospital, Crumlin, Dublin which provides genetic testing at its Genetics Department. Photograph: Google Street View

The woman has sued Our Lady’s Childrens Hospital, Crumlin, Dublin which provides genetic testing at its Genetics Department. Photograph: Google Street View

 

A woman who claims she was given the incorrect ‘normal’ diagnosis for a breast cancer gene test eight years ago and is now seriously ill with ovarian cancer has sued in the High Court.

The 52-year-old woman, a health care professional who lives in the Dublin area found out last August she has late stage ovarian cancer. She is currently undergoing treatment but the High Court was told the prognosis is poor.

After developing and recovering from breast cancer in 2004, she later learned members of her family had a significant history of breast cancer and she had a genetic test in November 2009 for the BRCA 1 or BRCA 2 mutation gene which is linked to breast cancer.

The report from the testing laboratory it is claimed showed a pathogenic change of the BRCA 1 gene.

It is alleged that, in a letter sent to the woman and her treating doctor on January 27th 2010, it was incorrectly stated the breast cancer gene was normal.

The woman, whose youngest child is aged 10, claims she has suffered a loss of chance and the opportunity to take and seek medical advice to mitigate her risk of developing cancer.

Had she been made aware of the mutation and pathogenic change of the BRCA 1 gene, in January 2010, she claims she would have taken all and any steps necessary to eliminate the possibility of cancer in the future.

The woman has sued Our Lady’s Childrens Hospital, Crumlin, Dublin which provides genetic testing at its Genetics Department and was formerly known as the National Centre for Medical Genetics , Cooley Road, Crumlin, Dublin.

On Wednesday, Richard Kean SC for the woman told the court liability has been admitted by the hospital but causation was still at issue in the case. He said the woman is very seriously ill and the prognosis is very poor.

He said the case will take four or five days and asked that it be specially fixed for a date in 2019. Mr Justice Kevin Cross set May 29th for the hearing.

It is claimed the hospital had a duty of care to the woman and in particular in relation to the reporting, diagnosing and communication of the finding of November 17th 2009 of the mutated and pathogenic change in the BRCA 1 gene.

The woman contends the result she received on January 27th 2010 from her November 2009 genetic test was miscommunication and misdiagnosed.

The woman was diagnosed in February 2004 with breast cancer, had a lumpectomy followed by chemotherapy and radiotherapy and made a full recovery.

Around 2007/2008 she became aware a member of her family had a significant history of breast cancer and it was decided she should be referred to Our Lady’s Childrens Hospital,Crumlin and the former National Centre for Medical Genetic Testing to see if she had the BRCA 1 or BRCA 2 cancer linked gene.

If she had the gene mutation it is contended certain treatment including a hysterectomy would have to be considered.

She had the genetic test and it was sent to a laboratory in Birmingham.

It is claimed the lab report came back with a result which it said was consistent with the clinical diagnosis of familial breast and / or ovarian cancer.

On January 27th 2010, she got a letter in relation to the genetic testing which stated that “no alteration was identified”, referring to the BRCA gene, but the laboratory report was not sent to the woman or her treating doctors.

In May 2018 the woman experienced a deterioration in her health, was losing weight and had a loss of appetite. In August 2018 she had pain in her left side and a CT scan showed up a 5cm ovarian tumour.

On August 11th she received the diagnosis she had extensive late stage cancer and urgent treatment was required. She was also advised her overall chances of survival were in the low percentage regions.

This shock diagnosis and prognosis caused the woman and her family severe profound and extreme psychological stress, distress and trauma, it is claimed.

In October of this year, the woman’s medical team sought all records in relation to her genetic testing, including the lab report of November 2009.

It is claimed she then discovered for the first time the reporting, diagnosis and communication in the January 2010 letter to the effect there was not mutation and/or pathogenic change in the BRCA gene was allegedly manifestly incorrect, wrong and false.