This landmark clinical study aimed to ensure that women with newly diagnosed epithelial ovarian cancer (the most common form of ovarian cancer, around 90 per cent of diagnoses) receive the appropriate genetic counselling both before and after genetic testing for BRCA gene mutations.
Testing women who are diagnosed with ovarian cancer for gene mutations allows other family members to seek vital help and information if they find out they have a familial risk, resulting in either prevention (if family members opt for preventative surgery) or earlier diagnosis (through increased awareness). However it is essential that women are supported with qualified genetic counselling throughout the process, especially as testing becomes more widespread and routine
Over 200 women in the East Anglia region with newly diagnosed epithelial ovarian cancer took part in the study. It showed that streamlined genetic counselling alongside genetic testing was indeed cost-effective, feasible and acceptable.
This model has already been rolled out to benefit women and their families across East Anglia, has been published in the Journal of Medical Genetics. A new protocol, Delivering improved access to genetic testing in epithelial ovarian cancer, has been published by Cambridge University Hospitals. This will allow other NHS providers to help set up similar models and services in their regions, benefiting even more women with ovarian cancer and their families.
This research has directly impacted in providing women with ovarian cancer improved access to genetic testing. A wider impact will also be that the results will help provide better outcomes for women from the use of more targeted treatments for those with BRCA mutations.
Researcher: Dr Marc Tischkowitz
Institution: University of Cambridge
Project dates: June 2012 to December 2015
Funding awarded: £175,300
Project status: complete
Plaskocinska I, Shipman H, Drummond J, Thompson E, Buchanan V, Newcombe B, et al, New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study, Journal of Medical Genetics, 2016, 53(10):655-61, DOI: http://dx.doi.org/10.1136/jmedgenet-2016-103902
Shipman H, Flynn S, MacDonald-Smith CF, Brenton J, Crawford R, Tischkowitz M, et al, Universal BRCA1/BRCA2 testing for ovarian cancer patients is welcomed, but with care: how women and staff contextualize experiences of expanded access, Journal of Genetic Counselling, 2017, 26(6), 1280-91, DOI: https://doi.org/10.1007/s10897-017-0108-5