Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

Abstract

Advances in DNA sequencing have made genetic testing fast and affordable, but limitations of testing processes are impeding realisation of patient benefits. Ovarian cancer exemplifies the potential value of genetic testing and the shortcomings of current pathways to access testing. Approximately 15% of ovarian cancer patients have a germline BRCA1 or BRCA2 mutation which has substantial implications for their personal management and that of their relatives. Unfortunately, in most countries, routine implementation of BRCA testing for ovarian cancer patients has been inconsistent and largely unsuccessful. We developed a rapid, robust, mainstream genetic testing pathway in which testing is undertaken by the trained cancer team with cascade testing to relatives performed by the genetics team. 207 women with ovarian cancer were offered testing through the mainstream pathway. All accepted. 33 (16%) had a BRCA mutation. The result informed management of 79% (121/154) women with active disease. Patient and clinician feedback was very positive. The pathway offers a 4-fold reduction in time and 13-fold reduction in resource requirement compared to the conventional testing pathway. The mainstream genetic testing pathway we present is effective, efficient and patient-centred. It can deliver rapid, robust, large-scale, cost-effective genetic testing of BRCA1 and BRCA2 and may serve as an exemplar for other genes and other diseases.

Figure 1. Mainstream pathway for BRCA testing in ovarian cancer patients.

Figure 2. Patient flow through mainstream pathway.

Figure 3. Comparison of time and appointment savings of UK-wide implementation of mainstream and traditional BRCA testing pathways.

About 6,500 new patients are diagnosed with non-mucinous ovarian cancer in UK each year and are eligible for testing. (a) In the mainstream pathway the testing can be completed in 3–4 weeks at existing cancer clinic appointments and only women with a mutation (~1000) have genetics follow-up. (b) In the traditional pathway all 6,500 patients have two genetics appointments for testing leading to substantial increases in the time and resources required.