Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.
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Date
2016-07-13ICR Author
Author
George, A
Riddell, D
Seal, S
Talukdar, S
Mahamdallie, S
Ruark, E
Cloke, V
Slade, I
Kemp, Z
Gore, M
Strydom, A
Banerjee, S
Hanson, H
Rahman, N
Type
Journal Article
Metadata
Show full item recordAbstract
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.
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Subject
Humans
Neoplasms
Genetic Predisposition to Disease
BRCA1 Protein
BRCA2 Protein
Mutation
Models, Organizational
Adult
Aged
Aged, 80 and over
Middle Aged
Cost-Benefit Analysis
Program Development
Patient Satisfaction
Patient-Centered Care
Female
Young Adult
Genetic Testing
Surveys and Questionnaires
Research team
Genetic Susceptibility
Language
eng
Date accepted
2016-06-17
License start date
2016-07-13
Citation
Scientific reports, 2016, 6 pp. 29506 - ?
Publisher
NATURE PORTFOLIO