Charity calls for confidential breast cancer information to be shared

A professor conducting research on behalf of Genesis Appeal, the UK's only charity dedicated to the prevention of breast cancer, has called for doctors to be allowed to inform patients that they are carriers of mutations in the BRCA1 or BRCA2 genes, thus making them aware of the higher risk that they may develop breast cancer. Under current UK confidentiality laws, only family members are allowed to tell their relatives that they could possess the gene.

Professor Gareth Evans conducted the research at the Genesis Prevention Centre in Manchester. He offered genetic testing to 100 members of five families spanning two generations known to carry the high-risk BRCA1 gene. When told directly that they were in the high risk group, many of Professor Evans' subjects requested a genetic test. The results showed a significant increase in the uptake of genetic testing; 50 per cent more women and double the amount of men requested testing. Evans cites this as good reasoning that a more direct approach would reach a wider audience.

Roughly one in 500 people carry the BRCA gene mutation, which has been identified as an indication of an 85 per cent increased risk of developing breast cancer at some point in the carrier's life.

At present, between 50 and 60 per cent of women who discover that they are carriers or could be carriers of these gene mutations opt to have preventative surgery. The confidentiality laws preventing doctors from informing patients that they carry the BRCA gene mutations mean that women estranged from their families are ignorant of the risks they may face. Breast cancer is the most common form of cancer affecting women today; one in ten women will develop the disease, and five to ten per cent of those cases are linked to the BRCA genes.

Others have acknowledged the potential benefits of 'offering help to remove barriers which may discourage patients from sharing genetic risk information'. Speaking at the British Society for Human Genetics (BSHG) annual conference in York last September, Dr Samantha Leonard, a Specialist Registrar at St Michael's Hospital, Bristol, expressed her feelings that a 'more proactive role in helping patients to contact their at-risk relatives would be practically and ethically justifiable'.