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.

Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real‐life experience

“…The concept of pre-test counselling being provided by non-geneticists in order to streamline the process so that the genetics team are able to focus on mutation carriers rather than a cohort of patients, many of whom will not carry a mutation, is gathering general acceptance, with other studies demonstrating high levels of patient satisfaction. 31 Previous studies have identified higher mutation rates in patients with ovarian cancer than were identified in the east of Scotland, 19,26,32 but broadly similar to those in the west of Scotland. Many of these previous studies recruited patients retrospectively, however, and were based in tertiary referral centres that were not the sole providers of ovarian cancer care in their geographical location.…”

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

“…For example, genetic testing may be ordered directly by oncologists and the oncology team, with support from clinical genetics. This model, often referred to as ‘mainstreaming’, was popularised by the Mainstreaming Cancer Genetics Programme in the UK 38. In the UK, implementation of the mainstreaming model resulted in a 100% genetic testing rate for women with non-mucinous ovarian cancer, with high patient and clinician satisfaction and reduced patient wait-times 38.…”

Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation

“…However, the Mainstreaming Cancer Genetics programme has operated successfully including only one post-test counselling session for index individuals found to have a pathogenic BRCA mutation, one pretest counselling session for relatives and one post-test counselling session for relatives with the mutation. 190,191 Such a regime would reduce costs further, as generally half or fewer of those tested for LS mutations are found to have a pathogenic MMR mutation.…”