About 15 to 20 per cent of cases of ovarian cancer are caused by a genetic mutation and the most common gene mutations are those in either the BRCA1 or BRCA2 genes. Women in the general population have a two per cent risk of developing ovarian cancer; for women with a BRCA1 mutation this rises to 30 to 50 per cent and for women with a BRCA2 mutation it rises to 10 to25 per cent. A mutation in the BRCA genes can also increase the risk of developing breast cancer, in both men and women. It’s important to remember that a BRCA mutation can be passed down by both male and female family members.
Both National Institute for Health and Care Excellence and NHS England guidelines mean that all women with non-mucinous ovarian cancer should now have access to genetic testing. If testing finds a genetic mutation, this then allows other family members to be tested and to explore options for monitoring or prevention. It can also affect how women respond to treatment and the appropriate treatment pathway for them.
However, finding a genetic mutation also has significant implications for both women with ovarian cancer, who discover they also carry a heightened risk of developing breast cancer, and their wider family. For these reasons Target Ovarian Cancer believes that it is vital that women with ovarian cancer should always be offered genetic counselling by a specialist centre in advance of deciding whether to be tested so they can make an informed decision and feel prepared for the possible results.
Our latest Pathfinder found that 86 per cent of women with ovarian cancer feel that all women with the disease who are offered genetic testing should be offered counselling before deciding whether to go ahead with the test. In contrast, of those offered genetic testing, only 61 per cent were given counselling ahead of being tested.
As genetic testing becomes routine it is vital that it is always accompanied by genetic counselling delivered through the appropriate specialist centres. The genetic testing in epithelial ovarian cancer (GTEOC) study, funded by Target Ovarian Cancer, explored a more streamline model of genetic counselling alongside testing for BRCA1 and BRCA2 mutations. Led by Dr Marc Tischkowitz the team found that this was cost-effective, feasible and acceptable while still offering pre-test counselling through specialist genetic services.
We are thrilled that this model has already been rolled out to benefit women and their families across East Anglia. A new protocol has been published to allow other NHS providers to help set up similar models and services in their regions and we hope to see all women diagnosed with ovarian cancer offered this service in the future.
The impact on women with ovarian cancer of deciding to undergo testing and discovering a genetic mutation cannot be underestimated. Women face discovering not only the cause of their own diagnosis, but that of their siblings, children and grandchildren may also be at risk of developing the disease. It is therefore vital that all women with ovarian cancer can access high-quality counselling delivered by specialist genetic services prior to deciding whether to be tested. There is no second chance to get this right.