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dc.contributor.authorKemp, Z
dc.contributor.authorTurnbull, A
dc.contributor.authorYost, S
dc.contributor.authorSeal, S
dc.contributor.authorMahamdallie, S
dc.contributor.authorPoyastro-Pearson, E
dc.contributor.authorWarren-Perry, M
dc.contributor.authorEccleston, A
dc.contributor.authorTan, M-M
dc.contributor.authorTeo, SH
dc.contributor.authorTurner, N
dc.contributor.authorStrydom, A
dc.contributor.authorGeorge, A
dc.contributor.authorRahman, N
dc.date.accessioned2020-06-08T14:36:39Z
dc.date.issued2019-05-03
dc.identifier.citationJAMA network open, 2019, 2 (5), pp. e194428 - ?
dc.identifier.issn2574-3805
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3701
dc.identifier.eissn2574-3805
dc.identifier.doi10.1001/jamanetworkopen.2019.4428
dc.description.abstractImportance Increasing BRCA1 and BRCA2 (collectively termed herein as BRCA) gene testing is required to improve cancer management and prevent BRCA-related cancers.Objective To evaluate mainstream genetic testing using cancer-based criteria in patients with cancer.Design, setting, and participants A quality improvement study and cost-effectiveness analysis of different BRCA testing selection criteria and access procedures to evaluate feasibility, acceptability, and mutation detection performance was conducted at the Royal Marsden National Health Service Foundation Trust as part of the Mainstreaming Cancer Genetics (MCG) Programme. Participants included 1184 patients with cancer who were undergoing genetic testing between September 1, 2013, and February 28, 2017.Main outcomes and measures Mutation rates, quality-adjusted life-years (QALYs), and incremental cost-effectiveness ratios were the primary outcomes.Results Of the 1184 patients (1158 women [97.8%]) meeting simple cancer-based criteria, 117 had a BRCA mutation (9.9%). The mutation rate was similar in retrospective United Kingdom (10.2% [235 of 2294]) and prospective Malaysian (9.7% [103 of 1061]) breast cancer studies. If traditional family history criteria had been used, more than 50% of the mutation-positive individuals would have been missed. Of the 117 mutation-positive individuals, 115 people (98.3%) attended their genetics appointment and cascade to relatives is underway in all appropriate families (85 of 85). Combining with the equivalent ovarian cancer study provides 5 simple cancer-based criteria for BRCA testing with a 10% mutation rate: (1) ovarian cancer; (2) breast cancer diagnosed when patients are 45 years or younger; (3) 2 primary breast cancers, both diagnosed when patients are 60 years or younger; (4) triple-negative breast cancer; and (5) male breast cancer. A sixth criterion-breast cancer plus a parent, sibling, or child with any of the other criteria-can be added to address family history. Criteria 1 through 5 are considered the MCG criteria, and criteria 1 through 6 are considered the MCGplus criteria. Testing using MCG or MCGplus criteria is cost-effective with cost-effectiveness ratios of $1330 per discounted QALYs and $1225 per discounted QALYs, respectively, and appears to lead to cancer and mortality reductions (MCG: 804 cancers, 161 deaths; MCGplus: 1020 cancers, 204 deaths per year over 50 years). Use of MCG or MCGplus criteria might allow detection of all BRCA mutations in patients with breast cancer in the United Kingdom through testing one-third of patients. Feedback questionnaires from 259 patients and 23 cancer team members (12 oncologists, 8 surgeons, and 3 nurse specialists) showed acceptability of the process with 100% of patients pleased they had genetic testing and 100% of cancer team members confident to approve patients for genetic testing. Use of MCGplus criteria also appeared to be time and resource efficient, requiring 95% fewer genetic consultations than the traditional process.Conclusions and relevance This study suggests that mainstream testing using simple, cancer-based criteria might be able to efficiently deliver consistent, cost-effective, patient-centered BRCA testing.
dc.formatElectronic
dc.format.extente194428 - ?
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectBRCA1 Protein
dc.subjectBRCA2 Protein
dc.subjectRetrospective Studies
dc.subjectProspective Studies
dc.subjectAdult
dc.subjectAged
dc.subjectAged, 80 and over
dc.subjectMiddle Aged
dc.subjectCost-Benefit Analysis
dc.subjectState Medicine
dc.subjectFemale
dc.subjectPractice Guidelines as Topic
dc.subjectEarly Detection of Cancer
dc.subjectGenetic Testing
dc.subjectUnited Kingdom
dc.titleEvaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.
dc.typeJournal Article
rioxxterms.versionofrecord10.1001/jamanetworkopen.2019.4428
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2019-05-03
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfJAMA network open
pubs.issue5
pubs.notesNot known
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/Breast Cancer Research/Molecular Oncology
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
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/Breast Cancer Research/Molecular Oncology
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.publication-statusPublished
pubs.volume2
pubs.embargo.termsNot known
icr.researchteamMolecular Oncologyen_US
icr.researchteamGenetic Susceptibilityen_US
dc.contributor.icrauthorTurner, Nicholasen
dc.contributor.icrauthorRahman, Saberaen


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