Results delay as breast cancer gene tests rise

There has been a 73% increase in Irish people seeking genetic tests after a family member is diagnosed with cancer, according to the National Cancer Control Programme (NCCP).

But women who fear they are carrying the breast cancer gene, that caused actress, Angelina Jolie to have a preventative mastectomy, are being forced to wait eight months to access tests.

The Irish Cancer Society has said early detection of the gene is vital as it gives patients time to think about options such as preventative mastectomy or ovary removal.

Jolie provoked an international discussion around genetic testing when she revealed she had been diagnosed with a key genetic marker for breast cancer. Her own mother had died from breast cancer.

Up to 200-300 Irish women are given this BRCA1 or BRCA2 diagnosis each year which means they have an 85% risk of developing breast or ovarian cancer due to faulty genes.

These gene markers are directly linked to between 5% and 10% of all breast cancer diagnoses worldwide.

The NCCP says it wants to improve access to hereditary cancer assessment and testing “as a priority” by rolling out hereditary clinics at cancer hospitals nationwide but “this will however necessitate a considerable additional investment”.

Last year, 1,625 samples were tested for genetic cancer markers compared to 927 in 2010.

The blood samples for genetic breast and ovarian cancer testing are taken at the National Centre for Medical Genetics at Our Lady’s Hospital, Crumlin but are sent to the UK for analysis.

The Mercy Foundation charity at Cork’s Mercy University Hospital would like to provide a genetic counselling service at its planned €1m Cancer Support Centre.

Doctors at the hospital want to develop genetic cancer testing at the city centre hospital and genetic counselling could be offered at the Sheare Street centre alongside the planned general counselling, coffee shop and quiet rooms for cancer patients and their families.

Under the current system, healthy women who believe they may be carrying the “faulty” genes are asked to contact their GP, who after examining their family history may refer them to one of Ireland’s eight cancer centres of excellence.

After checks to discover whether there is an unusually high rate of breast cancer in the patient’s family — generally described as two or more “first degree” relatives who have developed the condition — the woman involved can be assessed at the National Centre for Medical Genetics at Crumlin or at clinics at Cork University Hospital or Galway University Hospital.

The NCCP is also supporting genetic clinics at St James and the Mater Hospital.

Ireland has one of the lowest levels of clinical genetic consultants and genetic counsellors in Europe.

There are only four consultants, or 1 per 1,150,000 people, compared to 1 consultant per 400,000 in France, 1 per 300,000 in Northern Ireland, and 1 per 200,000 in Finland. This means that patient samples are regularly sent abroad as their testing facilities are more up to date.

In the UK, the Department of Health has an entire division to manage genetic services.

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