Ovarian cancer is the fifth commonest cause of cancer-related mortality in women, with over 7000 women diagnosed with the disease in the UK each year. A proportion of cases (around 15-20%) are caused by inherited mutations, with mutations in th e BRCA1 and BRCA2 genes being the most common. Knowledge of a woman’s mutation status can inform treatment options as certain classes of drugs are particularly effective in patients who carry a BRCA1 or BRCA2 mutation. The results of genetic testing may also be used to help unaffected relatives make a decision with regard to genetic testing, and mutation-positive women may then consider increased surveillance or risk-reducing options such as drugs or surgery.

Opportunities for improvement

Therefore, access to BRCA1 / BRCA2 testing is critical to providing the best care for women with the disease, and for their unaffected relatives. Traditionally, BRCA1 / BRCA2 testing has been offered on the basis of risk assessment carried out by the clinical genetics service. However, a significant proportion of women with ovarian cancer and BRCA1 / BRCA2 mutations are not identified through this approach because of variability in referral rates for testing and because the tools used to assess the likelihood of being a mutation carrier, based on family history, can be poor discriminators of risk. A desire to improve access to testing, coupled with a number of other factors including greater awareness amongst clinicians and patients of the therapeutic benefits of testing, lowering costs of Next Generation Sequencing (NGS) testing methods, and greater acceptance of telephone / internet based interaction in a clinical context, has driven initiatives to explore alternative approaches to offering testing.

A new model for testing

With these drivers in mind, the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study pioneered a new clinical genetics-coordinated model of testing in the East Anglia region to assess the feasibility and acceptability of offering BRCA1 / BRCA2 testing to all women with newly diagnosed epithelial ovarian cancer without an initial assessment of risk in the clinical genetics department. This created the challenge of how best to incorporate this approach into routine oncological practice, while at the same time maintaining the necessary support and counselling for affected individuals and their families. Women were offered a telephone consultation with the genetic counsellor / nurse but did not receive face to face genetic counselling and were only seen by the clinical genetics team if a mutation or variant of unknown significance was identified. This allowed faster and easier access to testing for women, and increased the service’s capacity to offer genetic testing more widely.

The GTEOC study recruited women with newly diagnosed epithelial ovarian cancer from June 2013 - June 2015 and showed that such a service could be offered within appropriate turnaround times, with a diagnostic yield of 8% for all women (unselected on the basis of family history or age) and 12% in women under the age of 70. Healthcare professionals were satisfied with being able to offer genetic testing to a greater proportion of their patients, and patients reported no significant additional distress arising from genetic testing.

When testing is confined to women under the age of 70 years (in whom 94% of the mutations were found) the study showed that the overall costs are comparable to the original testing pathway and, with a trajectory of falling test prices, the GTEOC approach becomes even more efficient in health economic terms. With automatic referral for testing from oncologists, this clinical genetics-coordinated approach maintained the benefits of clinical genetics involvement, in terms of access to information and support for patients, and oversight of the service, but also improved the efficiency of the service.

Conclusions and actions

Based on the findings from the GTEOC research study, we therefore implemented an NHS GTEOC service in our region. In order to optimise detection rates, the NHS service offers BRCA1 / BRCA2 testing to all women with epithelial ovarian cancer under the age of 70 years, and to patients aged over 70 years who also had a significant family history of breast or ovarian cancer. The NHS service has now been running successfully since June 2015, and during that time has offered testing to over 150 patients. We continue to evaluate the service model, but we found setting up the NHS service was relatively straightforward: the financial impact was contained within a single directorate budget and due to the relatively small numbers of patients involved, the changes have not had significant resource implications. 

We feel the GTEOC approach brings key benefits in terms of improved access to genetic testing for this group of patients, increasing the diagnostic yield and therefore improving care for patients and their families. We are keen to share our experience with other service providers in the UK and internationally, and we hope that our experiences of implementing the NHS service outlined in the report will serve as a useful example for others considering setting up such a service.

Inga Plaskocinska is a Genetics Research Nurse and Study Coordinator at University of Cambridge.

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