Lead researcher:Dr Marc Tischkowitz
Location: University of Cambridge
Research strand: Prevention and Early diagnosis
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. The team wanted to see if a more streamlined model of genetic counselling alongside testing for BRCA1 and BRCA2 mutations was cost effective, feasible and acceptable to women.
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, and a protocol will soon be published to help other regions in the UK to roll out the improved genetic testing pathway, benefitting women and families across the UK.
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.
This project funding is now completed.
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Watch Dr Marc Tischkowitz talking about this research project