Working together in the Genomics Era – Lessons from the GTEOC study 

Marc Tischkowitz1

1University of Cambridge, Cambridge, UK


The introduction of Next Generation Sequencing over the last five years has resulted in cheaper and faster genetic testing for hereditary cancers. The challenge we now face is how best to incorporate these advances into routine oncological practice, while at the same time maintaining the necessary support and counselling for affected individuals and their families. In this presentation I will use results from The Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study to highlight how such integration might be achieved. From 1st July 2013 to 30th June 2015 women newly diagnosed with EOC were recruited though 6 sites in East Anglia for BRCA1/2 testing. Eligibility was irrespective of patient age and family history of cancer. Consent for genetic testing was obtained by the research team after participants reviewed the study information sheet. The psychosocial arm of the study utilised quantitative questionnaires and qualitative interviews. 233 women were recruited and testing has now been completed in 186. The mean age at diagnosis was 65 years (range 30-90). 13 mutations were detected (9 in BRCA1, 4 in BRCA2) giving a yield of 7%. The mutation yield was 10.5% in unselected women <70 (11/105) and 2.5% in unselected women 70+ (2/81).  Preliminary analysis of the first 81 completed questionnaire responses showed that IES and DASS scores in response to genetic testing were significantly lower than equivalent scores of IES and DASS in response to cancer diagnosis (p<.001). Based on these results it seems that population-based genetic testing is acceptable to newly diagnosed patients with cancer and is less resource-intensive than current standard practice where all patients have a full assessment by the genetics team prior to testing. The study necessitated a close working relationship between cancer genetics and oncology and is feasible within existing NHS resources and infrastructure.