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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.

Original publication

DOI

10.1038/srep29506

Type

Journal article

Journal

Sci Rep

Publication Date

13/07/2016

Volume

6

Keywords

Adult, Aged, Aged, 80 and over, BRCA1 Protein, BRCA2 Protein, Cost-Benefit Analysis, Female, Genetic Predisposition to Disease, Genetic Testing, Humans, Middle Aged, Models, Organizational, Mutation, Neoplasms, Patient Satisfaction, Patient-Centered Care, Program Development, Surveys and Questionnaires, Young Adult