East Anglian women have been the first to benefit from clinical research undertaken by a consultant clinical geneticist from CUH Addenbrooke’s.
Ovarian cancer study paves the way for personalised medicine
Dr Marc Tischkowitz will be presenting the findings from the Genetic Testing in Epithelial Ovarian Cancer study (GTEOC) at the National Cancer Research Institute (NCRI) Cancer Conference today.
The clinical study, funded by charity Target Ovarian Cancer, has been assessing the acceptability, feasibility and cost effectiveness of streamlining genetic testing and counselling whilst maintaining the oversight of specialist genetic services.
232 women from East Anglia took part in the study during the past two years, and the recommendations for women with ovarian cancer across the UK have already been rolled out in East Anglia are being made at today’s conference.
Dr Marc Tischkowitz said: “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.
“Testing women who are diagnosed with ovarian cancer for gene mutations will allow other family members to seek vital help and information in a timely manner and will become essential if the promise of personalised medicine is to be fulfilled in the future.
“With this increased demand for testing it is essential that women have access to qualified genetic counselling throughout the process to ensure they are fully supported through a decision that can have far-reaching implications.”
The GTEOC Study has piloted a new way for women with ovarian cancer to access genetic testing. A real strength was to use the existing network of hospitals in East Anglia to provide comprehensive access to all women in the region.
Marc continued: “Based on our findings we have already adopted this new approach into our regional NHS genetics service and are sharing our experience with other centres in the UK.
“This type of translational research takes advantage of the excellent research-clinical interface in Cambridge and East Anglia which means that new developments can be rapidly and seamlessly introduced into routine care.”
Today’s presentation to the wider research community is a step towards rolling out across the UK the recommendations that all women with ovarian cancer are given genetic testing, alongside appropriate counselling, within a year of diagnosis. The presentation will also touch on how the approach could benefit patients with breast and bowel cancer.
The results demonstrate the evidence that genetic testing should be offered to women with ovarian cancer, and that this can be coordinated by genetics services in conjunction with the woman’s clinician. The study recommends using a less resource intensive form of genetics team-led counselling than is currently available, meaning a faster and more efficient service for women, which would have increased capacity to be able to offer the service more widely than is currently available.
A major advantage of this approach is the use of the regional “hub and spoke’ model of genetic services across the UK, meaning findings from the GTEOC can easily be rolled out across the country, dramatically widening access to genetic testing. It is this model that has enabled the women across all of East Anglia to participate in the research trial, not just those treated at Addenbrooke’s.
Annwen Jones, Chief Executive of Target Ovarian Cancer, said: “It's vital that all women diagnosed with ovarian cancer have access to genetic counselling and testing. I am pleased that these preliminary findings demonstrate how this can be achieved in practice and that women in East Anglia are already benefitting from the work completed so far.”
From 1st July 2013 to 30th June 2015, women newly diagnosed with epithelial ovarian cancer were recruited though six sites in East Anglia for BRCA1/2 testing. In most of us the gene tells cells to make a protein that helps repair damage to DNA. People who inherit a faulty copy are less able to repair damage that accumulates in their DNA over time and so they’re at higher risk of cancer.
Eligibility was irrespective of patient age and family history of cancer. The psychosocial arm of the study utilised quantitative questionnaires and qualitative interviews. 232 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.
Cambridge University Hospitals is one of the largest and best known trusts in the country. As the local hospital for our community we deliver care through Addenbrooke’s and the Rosie hospitals.