dc.contributor.author | Torr, B | |
dc.contributor.author | Jones, C | |
dc.contributor.author | Choi, S | |
dc.contributor.author | Allen, S | |
dc.contributor.author | Kavanaugh, G | |
dc.contributor.author | Hamill, M | |
dc.contributor.author | Garrett, A | |
dc.contributor.author | MacMahon, S | |
dc.contributor.author | Loong, L | |
dc.contributor.author | Reay, A | |
dc.contributor.author | Yuan, L | |
dc.contributor.author | Valganon Petrizan, M | |
dc.contributor.author | Monson, K | |
dc.contributor.author | Perry, N | |
dc.contributor.author | Fallowfield, L | |
dc.contributor.author | Jenkins, V | |
dc.contributor.author | Gold, R | |
dc.contributor.author | Taylor, A | |
dc.contributor.author | Gabe, R | |
dc.contributor.author | Wiggins, J | |
dc.contributor.author | Lucassen, A | |
dc.contributor.author | Manchanda, R | |
dc.contributor.author | Gandhi, A | |
dc.contributor.author | George, A | |
dc.contributor.author | Hubank, M | |
dc.contributor.author | Kemp, Z | |
dc.contributor.author | Evans, DG | |
dc.contributor.author | Bremner, S | |
dc.contributor.author | Turnbull, C | |
dc.coverage.spatial | England | |
dc.date.accessioned | 2022-09-27T09:54:27Z | |
dc.date.available | 2022-09-27T09:54:27Z | |
dc.date.issued | 2022-07-22 | |
dc.identifier | jmg-2022-108655 | |
dc.identifier.citation | Journal of Medical Genetics, 2022, pp. jmedgenet-2022-108655 - | |
dc.identifier.issn | 0022-2593 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/5502 | |
dc.identifier.eissn | 1468-6244 | |
dc.identifier.eissn | 1468-6244 | |
dc.identifier.doi | 10.1136/jmg-2022-108655 | |
dc.description.abstract | BACKGROUND: Germline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing are clinician-intensive and only a minority of breast cancer cases access testing. METHODS: We designed a rapid, digital pathway, supported by a genetics specialist hotline, for delivery of germline testing of BRCA1/BRCA2/PALB2 (BRCA-testing), integrated into routine UK NHS breast cancer care. We piloted the pathway, as part of the larger BRCA-DIRECT study, in 130 unselected patients with breast cancer and gathered preliminary data from a randomised comparison of delivery of pretest information digitally (fully digital pathway) or via telephone consultation with a genetics professional (partially digital pathway). RESULTS: Uptake of genetic testing was 98.4%, with good satisfaction reported for both the fully and partially digital pathways. Similar outcomes were observed in both arms regarding patient knowledge score and anxiety, with <5% of patients contacting the genetics specialist hotline. All progression criteria established for continuation of the study were met. CONCLUSION: Pilot data indicate preliminary demonstration of feasibility and acceptability of a fully digital pathway for BRCA-testing and support proceeding to a full powered study for evaluation of non-inferiority of the fully digital pathway, detailed quantitative assessment of outcomes and operational economic analyses. TRIAL REGISTRATION NUMBER: ISRCTN87845055. | |
dc.format | Print-Electronic | |
dc.format.extent | jmedgenet-2022-108655 - | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | BMJ PUBLISHING GROUP | |
dc.relation.ispartof | Journal of Medical Genetics | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.subject | genetic counseling | |
dc.subject | genetic predisposition to disease | |
dc.subject | genetic testing | |
dc.subject | genetics | |
dc.subject | health care facilities, manpower, and services | |
dc.title | A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2022-07-03 | |
dc.date.updated | 2022-09-27T09:46:14Z | |
rioxxterms.version | VoR | |
rioxxterms.versionofrecord | 10.1136/jmg-2022-108655 | |
rioxxterms.licenseref.uri | http://creativecommons.org/licenses/by/4.0/ | |
rioxxterms.licenseref.startdate | 2022-07-22 | |
rioxxterms.type | Journal Article/Review | |
pubs.author-url | https://www.ncbi.nlm.nih.gov/pubmed/35868849 | |
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/Molecular Pathology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Translational Genomics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Translational Genomics/Translational Genomics (hon.) | |
pubs.organisational-group | /ICR/Students | |
pubs.organisational-group | /ICR/Students/PhD and MPhil | |
pubs.organisational-group | /ICR/Students/PhD and MPhil/19/20 Starting Cohort | |
pubs.organisational-group | /ICR/Students/PhD and MPhil/20/21 Starting Cohort | |
pubs.publication-status | Published online | |
pubs.publisher-url | http://dx.doi.org/10.1136/jmg-2022-108655 | |
icr.researchteam | Translational Genetics | |
dc.contributor.icrauthor | Pemberton - Whiteley, Bethany | |
dc.contributor.icrauthor | Allen, Sophie | |
dc.contributor.icrauthor | Garrett, Alice | |
dc.contributor.icrauthor | Turnbull, Clare | |
icr.provenance | Deposited by Mr Arek Surman on 2022-09-27. Deposit type is initial. No. of files: 1. Files: jmg-2022-108655.full.pdf | |