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dc.contributor.authorGeorge, A
dc.contributor.authorRiddell, D
dc.contributor.authorSeal, S
dc.contributor.authorTalukdar, S
dc.contributor.authorMahamdallie, S
dc.contributor.authorRuark, E
dc.contributor.authorCloke, V
dc.contributor.authorSlade, I
dc.contributor.authorKemp, Z
dc.contributor.authorGore, M
dc.contributor.authorStrydom, A
dc.contributor.authorBanerjee, S
dc.contributor.authorHanson, H
dc.contributor.authorRahman, N
dc.date.accessioned2016-10-26T16:45:33Z
dc.date.issued2016-07-13
dc.identifier.citationScientific reports, 2016, 6 pp. 29506 - ?
dc.identifier.issn2045-2322
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/192
dc.identifier.eissn2045-2322
dc.identifier.doi10.1038/srep29506
dc.description.abstractAdvances 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.
dc.formatElectronic
dc.format.extent29506 - ?
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectHumans
dc.subjectNeoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectBRCA1 Protein
dc.subjectBRCA2 Protein
dc.subjectMutation
dc.subjectModels, Organizational
dc.subjectAdult
dc.subjectAged
dc.subjectAged, 80 and over
dc.subjectMiddle Aged
dc.subjectCost-Benefit Analysis
dc.subjectProgram Development
dc.subjectPatient Satisfaction
dc.subjectPatient-Centered Care
dc.subjectFemale
dc.subjectYoung Adult
dc.subjectGenetic Testing
dc.subjectSurveys and Questionnaires
dc.titleImplementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.
dc.typeJournal Article
dcterms.dateAccepted2016-06-17
rioxxterms.versionofrecord10.1038/srep29506
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2016-07-13
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfScientific reports
pubs.notesNo embargo
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Genetic Susceptibility
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Genetic Susceptibility
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.publication-statusPublished
pubs.volume6
pubs.embargo.termsNo embargo
icr.researchteamGenetic Susceptibilityen_US
dc.contributor.icrauthorRuark, Eliseen
dc.contributor.icrauthorStrydom, Annen
dc.contributor.icrauthorTalukdar, Sabrinaen
dc.contributor.icrauthorRahman, Saberaen
dc.contributor.icrauthorGore, Martinen
dc.contributor.icrauthorBanerjee, Susanaen


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