Making a difference for patients at UCLH

Extending genetic testing for ovarian cancer patients

We funded a pilot programme to extend genetic testing for ovarian cancer patients to identify if further family members are at risk of developing the disease. Previously, genetic testing for the cancer susceptible gene, BRCA, was offered only to patients who have family history of the disease.

Home Case studies Extending genetic testing for ovarian cancer patients

What was achieved? 

All eligible ovarian cancer patients at UCLH were offered testing for the gene abnormality over the period of 12 months. As anticipated, 15% of patients tested positive for a BRCA abnormality. As we had hoped, our NHS commissioners have given funding to continue this genetic testing.

Reducing the risks for relatives

Ovarian cancer of the fifth most common cancer amongst women in the UK, and accounts for more deaths than all the other gynaecological cancers combined. 

The disease is usually diagnosed late as early stage symptoms are difficult to identify and survival rates remain low, despite new treatments. 

Research indicates that up to 17% of women with the most common type of ovarian cancer carry a BRCA mutation, but have little or no family history. NICE recommended BRCA gene testing in these women, but the commissioners had not agreed to funding. UCLH started genetic testing with thanks to a UCLH Charity for funding for one year.

The pilot project tested approximately forty women for the gene abnormality over a period of 12 months and as expected 15% were tested positive. These findings meant that genetic testing became standard provisions for all ovarian patients at UCLH.

The outcome – UCLH ovarian cancer patients and their families benefit from the knowledge of their BRCA genetic status. This helps identify women who will respond to a new treatment PARP inhibitors.  Family members at risk can be offered testing so that if they carry the gene as well they can be offered risk reducing surgery or regular screening to increase the chance of early detection.

Dr Tim Mould, consultant gynaecological oncologist commented, “The initiation of genetic testing went very well. Our predictions were proven accurate, and we are very pleased that the NHS will fund continuation of testing for the future. These measures really will save lives, and show a strong UCLH/UCLH Charity commitment to prevent future generations from harm”.

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